Orphanet classification: Rare developmental defect during embryogenesis (ORPHA:93890)
Disorder type: Category
Subcategories and diseases:
Name: Hydrops fetalis
OrphaCode: 1041
DisorderType: Malformation syndrome
Children: Name: Non-immune hydrops fetalis
OrphaCode: 363999
DisorderType: Clinical subtype
Name: Immune hydrops fetalis
OrphaCode: 364013
DisorderType: Clinical subtype
Name: Renal or urinary tract malformation
OrphaCode: 93545
DisorderType: Category
Children: Name: Non-syndromic renal or urinary tract malformation
OrphaCode: 93546
DisorderType: Category
Children: Name: Multicystic dysplastic kidney
OrphaCode: 1851
DisorderType: Morphological anomaly
Children: Name: Unilateral multicystic dysplastic kidney
OrphaCode: 97363
DisorderType: Clinical subtype
Name: Bilateral multicystic dysplastic kidney
OrphaCode: 97364
DisorderType: Clinical subtype
Name: Exstrophy-epispadias complex
OrphaCode: 322
DisorderType: Malformation syndrome
Children: Name: Isolated epispadias
OrphaCode: 93928
DisorderType: Clinical subtype
Name: Cloacal exstrophy
OrphaCode: 93929
DisorderType: Clinical subtype
Name: Bladder exstrophy
OrphaCode: 93930
DisorderType: Clinical subtype
Name: Renal tubular dysgenesis
OrphaCode: 3033
DisorderType: Malformation syndrome
Children: Name: Renal tubular dysgenesis due to twin-twin transfusion
OrphaCode: 97367
DisorderType: Etiological subtype
Name: Drug-related renal tubular dysgenesis
OrphaCode: 97368
DisorderType: Etiological subtype
Name: Renal tubular dysgenesis of genetic origin
OrphaCode: 97369
DisorderType: Etiological subtype
Name: Medullary sponge kidney
OrphaCode: 1309
DisorderType: Morphological anomaly
Name: Oligomeganephronia
OrphaCode: 2260
DisorderType: Morphological anomaly
Name: Duplication of urethra
OrphaCode: 237
DisorderType: Morphological anomaly
Name: Congenital primary megaureter
OrphaCode: 617
DisorderType: Morphological anomaly
Children: Name: Primary megaureter, adult-onset form
OrphaCode: 238642
DisorderType: Clinical subtype
Name: Congenital primary megaureter, obstructed form
OrphaCode: 238646
DisorderType: Clinical subtype
Name: Congenital primary megaureter, refluxing form
OrphaCode: 238650
DisorderType: Clinical subtype
Name: Congenital primary megaureter, nonrefluxing and unobstructed form
OrphaCode: 238654
DisorderType: Clinical subtype
Name: Congenital primary megaureter, refluxing and obstructed form
OrphaCode: 544578
DisorderType: Clinical subtype
Name: Renal hypoplasia
OrphaCode: 93101
DisorderType: Morphological anomaly
Children: Name: Renal hypoplasia, unilateral
OrphaCode: 97361
DisorderType: Clinical subtype
Name: Renal hypoplasia, bilateral
OrphaCode: 97362
DisorderType: Clinical subtype
Name: Renal dysplasia
OrphaCode: 93108
DisorderType: Morphological anomaly
Children: Name: Renal dysplasia, unilateral
OrphaCode: 93172
DisorderType: Clinical subtype
Name: Renal dysplasia, bilateral
OrphaCode: 93173
DisorderType: Clinical subtype
Name: Congenital megacalycosis
OrphaCode: 93109
DisorderType: Morphological anomaly
Children: Name: Unilateral congenital megacalycosis
OrphaCode: 93176
DisorderType: Clinical subtype
Name: Congenital bilateral megacalycosis
OrphaCode: 93177
DisorderType: Clinical subtype
Name: Megacystis-megaureter syndrome
OrphaCode: 238637
DisorderType: Disease
Name: Renal agenesis
OrphaCode: 411709
DisorderType: Morphological anomaly
Children: Name: Renal agenesis, bilateral
OrphaCode: 1848
DisorderType: Clinical subtype
Name: Renal agenesis, unilateral
OrphaCode: 93100
DisorderType: Clinical subtype
Name: Fetal lower urinary tract obstruction
OrphaCode: 435365
DisorderType: Clinical group
Children: Name: Prune belly syndrome
OrphaCode: 2970
DisorderType: Malformation syndrome
Name: Atresia of urethra
OrphaCode: 105
DisorderType: Morphological anomaly
Name: Posterior urethral valve
OrphaCode: 93110
DisorderType: Morphological anomaly
Name: Anterior urethral valve
OrphaCode: 435372
DisorderType: Morphological anomaly
Name: Congenital urachal anomaly
OrphaCode: 435743
DisorderType: Category
Children: Name: Urachal cyst
OrphaCode: 488
DisorderType: Morphological anomaly
Name: Patent urachus
OrphaCode: 431341
DisorderType: Morphological anomaly
Name: Urachal sinus
OrphaCode: 431344
DisorderType: Morphological anomaly
Name: Urachal diverticulum
OrphaCode: 431347
DisorderType: Morphological anomaly
Name: Familial vesicoureteral reflux
OrphaCode: 289365
DisorderType: Malformation syndrome
Name: Non-syndromic supernumerary kidneys
OrphaCode: 652528
DisorderType: Morphological anomaly
Name: Syndromic renal or urinary tract malformation
OrphaCode: 93547
DisorderType: Category
Children: Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: 22q11.2 deletion syndrome
OrphaCode: 567
DisorderType: Malformation syndrome
Name: Rubinstein-Taybi syndrome
OrphaCode: 783
DisorderType: Malformation syndrome
Children: Name: Rubinstein-Taybi syndrome due to CREBBP mutations
OrphaCode: 353277
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
OrphaCode: 353281
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
OrphaCode: 353284
DisorderType: Etiological subtype
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: BOR syndrome
OrphaCode: 107
DisorderType: Malformation syndrome
Name: Cat-eye syndrome
OrphaCode: 195
DisorderType: Malformation syndrome
Name: Alagille syndrome
OrphaCode: 52
DisorderType: Malformation syndrome
Children: Name: Alagille syndrome due to 20p12 microdeletion
OrphaCode: 261600
DisorderType: Etiological subtype
Name: Alagille syndrome due to a JAG1 point mutation
OrphaCode: 261619
DisorderType: Etiological subtype
Name: Alagille syndrome due to a NOTCH2 point mutation
OrphaCode: 261629
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome
OrphaCode: 116
DisorderType: Malformation syndrome
Children: Name: Beckwith-Wiedemann syndrome due to 11p15 microduplication
OrphaCode: 96076
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
OrphaCode: 96193
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
OrphaCode: 231117
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to CDKN1C mutation
OrphaCode: 231120
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion
OrphaCode: 231127
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
OrphaCode: 231130
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to NSD1 mutation
OrphaCode: 238613
DisorderType: Etiological subtype
Name: Meckel syndrome
OrphaCode: 564
DisorderType: Malformation syndrome
Name: Ellis Van Creveld syndrome
OrphaCode: 289
DisorderType: Malformation syndrome
Name: Trisomy 13
OrphaCode: 3378
DisorderType: Malformation syndrome
Name: Trisomy 18
OrphaCode: 3380
DisorderType: Malformation syndrome
Name: VACTERL/VATER association
OrphaCode: 887
DisorderType: Malformation syndrome
Name: Simpson-Golabi-Behmel syndrome
OrphaCode: 373
DisorderType: Malformation syndrome
Name: Caudal regression syndrome
OrphaCode: 3027
DisorderType: Malformation syndrome
Name: Fraser syndrome
OrphaCode: 2052
DisorderType: Malformation syndrome
Name: Hajdu-Cheney syndrome
OrphaCode: 955
DisorderType: Malformation syndrome
Name: Acrorenal syndrome
OrphaCode: 971
DisorderType: Malformation syndrome
Name: Aniridia-renal agenesis-psychomotor retardation syndrome
OrphaCode: 1064
DisorderType: Malformation syndrome
Name: AREDYLD syndrome
OrphaCode: 1133
DisorderType: Malformation syndrome
Name: Axial mesodermal dysplasia spectrum
OrphaCode: 1834
DisorderType: Malformation syndrome
Name: EEC syndrome
OrphaCode: 1896
DisorderType: Malformation syndrome
Name: Faciocardiorenal syndrome
OrphaCode: 1973
DisorderType: Malformation syndrome
Name: Hydrocephalus-blue sclerae-nephropathy syndrome
OrphaCode: 2186
DisorderType: Malformation syndrome
Name: Hypoparathyroidism-sensorineural deafness-renal disease syndrome
OrphaCode: 2237
DisorderType: Malformation syndrome
Name: Megacystis-microcolon-intestinal hypoperistalsis syndrome
OrphaCode: 2241
DisorderType: Malformation syndrome
Name: Fibulo-ulnar hypoplasia-renal anomalies syndrome
OrphaCode: 2256
DisorderType: Malformation syndrome
Name: Pallister-Hall syndrome
OrphaCode: 672
DisorderType: Malformation syndrome
Name: Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
OrphaCode: 2278
DisorderType: Malformation syndrome
Name: Nephrosis-deafness-urinary tract-digital malformations syndrome
OrphaCode: 2669
DisorderType: Malformation syndrome
Name: Renal coloboma syndrome
OrphaCode: 1475
DisorderType: Malformation syndrome
Name: Neurofaciodigitorenal syndrome
OrphaCode: 2673
DisorderType: Malformation syndrome
Name: Arthrogryposis-renal dysfunction-cholestasis syndrome
OrphaCode: 2697
DisorderType: Malformation syndrome
Name: Urofacial syndrome
OrphaCode: 2704
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: Multicentric carpo-tarsal osteolysis with or without nephropathy
OrphaCode: 2774
DisorderType: Malformation syndrome
Name: Spastic paraplegia-nephritis-deafness syndrome
OrphaCode: 2820
DisorderType: Clinical syndrome
Name: Mayer-Rokitansky-Küster-Hauser syndrome
OrphaCode: 3109
DisorderType: Malformation syndrome
Children: Name: Mayer-Rokitansky-Küster-Hauser syndrome type 2
OrphaCode: 2578
DisorderType: Clinical subtype
Name: Mayer-Rokitansky-Küster-Hauser syndrome type 1
OrphaCode: 247775
DisorderType: Clinical subtype
Name: Schinzel-Giedion syndrome
OrphaCode: 798
DisorderType: Malformation syndrome
Name: Holoprosencephaly-radial heart renal anomalies syndrome
OrphaCode: 3186
DisorderType: Malformation syndrome
Name: Thomas syndrome
OrphaCode: 3316
DisorderType: Malformation syndrome
Name: Thymic-renal-anal-lung dysplasia
OrphaCode: 3326
DisorderType: Malformation syndrome
Name: Thyrocerebrorenal syndrome
OrphaCode: 3327
DisorderType: Malformation syndrome
Name: Ulbright-Hodes syndrome
OrphaCode: 3404
DisorderType: Malformation syndrome
Name: Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
OrphaCode: 1192
DisorderType: Malformation syndrome
Name: Double uterus-hemivagina-renal agenesis syndrome
OrphaCode: 3411
DisorderType: Malformation syndrome
Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: HNF1B-related autosomal dominant tubulointerstitial kidney disease
OrphaCode: 93111
DisorderType: Clinical subtype
Name: BNAR syndrome
OrphaCode: 217266
DisorderType: Malformation syndrome
Name: Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
OrphaCode: 439897
DisorderType: Malformation syndrome
Name: Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
OrphaCode: 444069
DisorderType: Malformation syndrome
Name: Cystic hamartoma of lung and kidney
OrphaCode: 2111
DisorderType: Disease
Name: Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
OrphaCode: 500135
DisorderType: Malformation syndrome
Name: Renal nutcracker syndrome
OrphaCode: 71273
DisorderType: Disease
Name: Renal caliceal diverticuli-deafness syndrome
OrphaCode: 2838
DisorderType: Malformation syndrome
Name: Tall stature-intellectual disability-renal anomalies syndrome
OrphaCode: 500095
DisorderType: Malformation syndrome
Name: 8q24.3 microdeletion syndrome
OrphaCode: 508488
DisorderType: Malformation syndrome
Name: Menke-Hennekam syndrome
OrphaCode: 592574
DisorderType: Malformation syndrome
Name: Congenital vertebral-cardiac-renal anomalies syndrome
OrphaCode: 521438
DisorderType: Malformation syndrome
Name: NPHP3-related Meckel-like syndrome
OrphaCode: 3032
DisorderType: Malformation syndrome
Name: SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
OrphaCode: 597743
DisorderType: Malformation syndrome
Name: PBX1-related congenital anomalies of kidney and urinary tract syndrome
OrphaCode: 656130
DisorderType: Disease
Name: Rare surgical cardiac disease
OrphaCode: 97965
DisorderType: Category
Children: Name: Rare congenital non-syndromic heart malformation
OrphaCode: 88991
DisorderType: Category
Children: Name: Rare congenital anomaly of ventricular septum
OrphaCode: 474347
DisorderType: Clinical group
Children: Name: Laubry-Pezzi syndrome
OrphaCode: 99094
DisorderType: Morphological anomaly
Name: Interventricular septum aneurysm
OrphaCode: 99092
DisorderType: Morphological anomaly
Name: Congenital Gerbode defect
OrphaCode: 99095
DisorderType: Morphological anomaly
Name: Congenital pericardium anomaly
OrphaCode: 2846
DisorderType: Category
Children: Name: Congenital complete agenesis of pericardium
OrphaCode: 99129
DisorderType: Morphological anomaly
Name: Congenital partial agenesis of pericardium
OrphaCode: 99130
DisorderType: Morphological anomaly
Name: Pleuro-pericardial cyst
OrphaCode: 99131
DisorderType: Morphological anomaly
Name: Coronary artery congenital malformation
OrphaCode: 1081
DisorderType: Category
Children: Name: Coronary arterial fistula
OrphaCode: 2041
DisorderType: Morphological anomaly
Name: Congenital coronary artery aneurysm
OrphaCode: 95491
DisorderType: Morphological anomaly
Name: Anomalous aortic origin of coronary artery
OrphaCode: 541478
DisorderType: Clinical group
Children: Name: Anomalous aortic origin of the left coronary artery
OrphaCode: 541443
DisorderType: Morphological anomaly
Name: Anomalous aortic origin of the right coronary artery
OrphaCode: 541454
DisorderType: Morphological anomaly
Name: Anomalous origin of coronary artery from the pulmonary artery
OrphaCode: 541507
DisorderType: Morphological anomaly
Name: Anomaly of the coronary ostia
OrphaCode: 542822
DisorderType: Clinical group
Children: Name: Coronary ostial stenosis or atresia
OrphaCode: 99087
DisorderType: Morphological anomaly
Name: Abnormal number of coronary ostia
OrphaCode: 99089
DisorderType: Morphological anomaly
Name: Malposition of a coronary ostium
OrphaCode: 99090
DisorderType: Morphological anomaly
Name: Cardiac diverticulum
OrphaCode: 1686
DisorderType: Morphological anomaly
Name: Criss-cross heart
OrphaCode: 1461
DisorderType: Morphological anomaly
Name: Univentricular cardiopathy
OrphaCode: 95483
DisorderType: Category
Children: Name: Hypoplastic left heart syndrome
OrphaCode: 2248
DisorderType: Morphological anomaly
Name: Univentricular heart
OrphaCode: 1464
DisorderType: Morphological anomaly
Name: Hypoplastic right heart syndrome
OrphaCode: 98723
DisorderType: Clinical group
Children: Name: Pulmonary atresia-intact ventricular septum syndrome
OrphaCode: 1208
DisorderType: Morphological anomaly
Name: Isolated right ventricular hypoplasia
OrphaCode: 439
DisorderType: Morphological anomaly
Name: Heart position anomaly
OrphaCode: 98716
DisorderType: Category
Children: Name: Heterotaxia
OrphaCode: 450
DisorderType: Category
Children: Name: Dextrocardia
OrphaCode: 1666
DisorderType: Morphological anomaly
Name: Levocardia
OrphaCode: 95854
DisorderType: Morphological anomaly
Name: Right sided atrial isomerism
OrphaCode: 97548
DisorderType: Malformation syndrome
Name: Situs inversus totalis
OrphaCode: 101063
DisorderType: Morphological anomaly
Name: Situs ambiguus
OrphaCode: 157769
DisorderType: Morphological anomaly
Name: Left sided atrial isomerism
OrphaCode: 566862
DisorderType: Malformation syndrome
Name: Mesocardia
OrphaCode: 95443
DisorderType: Morphological anomaly
Name: Transposition of the great arteries and conotruncal cardiac anomaly
OrphaCode: 98717
DisorderType: Category
Children: Name: Conotruncal heart malformations
OrphaCode: 2445
DisorderType: Category
Children: Name: Tetralogy of Fallot
OrphaCode: 3303
DisorderType: Malformation syndrome
Name: Common arterial trunk
OrphaCode: 3384
DisorderType: Morphological anomaly
Children: Name: Common arterial trunk with pulmonary dominance and interrupted aortic arch
OrphaCode: 665058
DisorderType: Clinical subtype
Name: Common arterial trunk with aortic dominance
OrphaCode: 665044
DisorderType: Clinical subtype
Name: Pulmonary valve agenesis
OrphaCode: 982
DisorderType: Clinical group
Children: Name: Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome
OrphaCode: 99048
DisorderType: Malformation syndrome
Name: Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
OrphaCode: 101206
DisorderType: Malformation syndrome
Name: Abnormal origin of the pulmonary artery
OrphaCode: 1138
DisorderType: Clinical group
Children: Name: Isolated pulmonary artery sling
OrphaCode: 658574
DisorderType: Morphological anomaly
Name: Pulmonary artery coming from patent ductus arteriosus
OrphaCode: 99049
DisorderType: Morphological anomaly
Name: Abnormal origin of right or left pulmonary artery from the aorta
OrphaCode: 99050
DisorderType: Morphological anomaly
Name: Pulmonary atresia with ventricular septal defect
OrphaCode: 1207
DisorderType: Morphological anomaly
Name: Congenital aortopulmonary window
OrphaCode: 2037
DisorderType: Morphological anomaly
Name: Double outlet right ventricle
OrphaCode: 3426
DisorderType: Morphological anomaly
Children: Name: Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis
OrphaCode: 99043
DisorderType: Clinical subtype
Name: Double outlet right ventricle with subpulmonary ventricular septal defect
OrphaCode: 99045
DisorderType: Clinical subtype
Name: Double outlet right ventricle with non-committed subpulmonary ventricular septal defect
OrphaCode: 99046
DisorderType: Clinical subtype
Name: Double outlet right ventricle with subaortic or doubly committed ventricular septal defect
OrphaCode: 423693
DisorderType: Clinical subtype
Name: Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy
OrphaCode: 423712
DisorderType: Clinical subtype
Name: Double outlet left ventricle
OrphaCode: 3427
DisorderType: Morphological anomaly
Name: Aortic malformation
OrphaCode: 98718
DisorderType: Category
Children: Name: Supravalvular aortic stenosis
OrphaCode: 3193
DisorderType: Morphological anomaly
Name: Aorta coarctation
OrphaCode: 1457
DisorderType: Morphological anomaly
Name: Aortic arch interruption
OrphaCode: 2299
DisorderType: Morphological anomaly
Name: Fixed subaortic stenosis
OrphaCode: 3092
DisorderType: Morphological anomaly
Children: Name: Discrete fixed membranous subaortic stenosis
OrphaCode: 99051
DisorderType: Clinical subtype
Name: Discrete fibromuscular subaortic stenosis
OrphaCode: 99052
DisorderType: Clinical subtype
Name: Tunnel subaortic stenosis
OrphaCode: 99053
DisorderType: Clinical subtype
Name: Congenital aortic valve stenosis
OrphaCode: 3093
DisorderType: Morphological anomaly
Children: Name: Congenital aortic valve atresia
OrphaCode: 95448
DisorderType: Clinical subtype
Name: Congenital aortic valve dysplasia
OrphaCode: 101043
DisorderType: Clinical subtype
Name: Familial bicuspid aortic valve
OrphaCode: 402075
DisorderType: Morphological anomaly
Name: Middle aortic syndrome
OrphaCode: 1456
DisorderType: Morphological anomaly
Name: Quadricuspid aortic valve
OrphaCode: 542568
DisorderType: Morphological anomaly
Name: Pulmonary artery or pulmonary branch anomaly
OrphaCode: 98719
DisorderType: Category
Children: Name: Pulmonary atresia-intact ventricular septum syndrome
OrphaCode: 1208
DisorderType: Morphological anomaly
Name: Pulmonary valve agenesis
OrphaCode: 982
DisorderType: Clinical group
Children: Name: Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome
OrphaCode: 99048
DisorderType: Malformation syndrome
Name: Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
OrphaCode: 101206
DisorderType: Malformation syndrome
Name: Absence of the pulmonary artery
OrphaCode: 980
DisorderType: Morphological anomaly
Name: Congenital pulmonary valvar stenosis
OrphaCode: 3189
DisorderType: Morphological anomaly
Children: Name: Subpulmonary stenosis
OrphaCode: 3190
DisorderType: Clinical subtype
Name: Supravalvular pulmonary stenosis
OrphaCode: 3192
DisorderType: Clinical subtype
Name: Valvular pulmonary stenosis
OrphaCode: 99054
DisorderType: Clinical subtype
Name: Idiopathic pulmonary artery dilatation
OrphaCode: 1676
DisorderType: Disease
Name: Pulmonary artery hypoplasia
OrphaCode: 99083
DisorderType: Morphological anomaly
Name: Peripheral pulmonary stenosis
OrphaCode: 99084
DisorderType: Morphological anomaly
Name: Transposition of the great arteries
OrphaCode: 216675
DisorderType: Category
Children: Name: Congenitally uncorrected transposition of the great arteries
OrphaCode: 860
DisorderType: Morphological anomaly
Children: Name: Congenitally uncorrected transposition of the great arteries with coarctation
OrphaCode: 99042
DisorderType: Clinical subtype
Name: Isolated congenitally uncorrected transposition of the great arteries
OrphaCode: 216718
DisorderType: Clinical subtype
Name: Congenitally uncorrected transposition of the great arteries with cardiac malformation
OrphaCode: 216729
DisorderType: Clinical subtype
Name: Congenitally corrected transposition of the great arteries
OrphaCode: 216694
DisorderType: Morphological anomaly
Name: Atrioventricular valve anomaly
OrphaCode: 98720
DisorderType: Category
Children: Name: Congenital mitral malformation
OrphaCode: 2447
DisorderType: Category
Children: Name: Congenital mitral valve insufficiency and/or stenosis
OrphaCode: 95464
DisorderType: Category
Children: Name: Familial mitral valve prolapse
OrphaCode: 741
DisorderType: Morphological anomaly
Name: Mitral atresia
OrphaCode: 1205
DisorderType: Morphological anomaly
Name: Congenital mitral stenosis
OrphaCode: 99057
DisorderType: Morphological anomaly
Name: Hypoplasia of the mitral valve annulus
OrphaCode: 99058
DisorderType: Morphological anomaly
Name: Congenital supravalvular mitral ring
OrphaCode: 99059
DisorderType: Morphological anomaly
Name: Congenital unguarded mitral orifice
OrphaCode: 99060
DisorderType: Morphological anomaly
Name: Accessory mitral valve tissue
OrphaCode: 99061
DisorderType: Morphological anomaly
Name: Mitral valve agenesis
OrphaCode: 99062
DisorderType: Morphological anomaly
Name: Shone complex
OrphaCode: 99063
DisorderType: Malformation syndrome
Name: Anomaly of the mitral subvalvular apparatus
OrphaCode: 101932
DisorderType: Morphological anomaly
Name: Cleft mitral valve
OrphaCode: 95465
DisorderType: Morphological anomaly
Children: Name: Double-orifice mitral valve
OrphaCode: 95474
DisorderType: Clinical subtype
Name: Straddling and/or overriding mitral valve
OrphaCode: 99064
DisorderType: Clinical subtype
Name: Congenital tricuspid malformation
OrphaCode: 98721
DisorderType: Category
Children: Name: Congenital tricuspid stenosis
OrphaCode: 95459
DisorderType: Morphological anomaly
Name: Straddling or overriding tricuspid valve
OrphaCode: 95461
DisorderType: Morphological anomaly
Name: Accessory tricuspid valve tissue
OrphaCode: 95462
DisorderType: Morphological anomaly
Name: Anomaly of the tricuspid subvalvular apparatus
OrphaCode: 95463
DisorderType: Category
Children: Name: Congenital anomaly of the tricuspid valve chordae
OrphaCode: 99055
DisorderType: Morphological anomaly
Name: Parachute tricuspid valve
OrphaCode: 99056
DisorderType: Morphological anomaly
Name: Congenital tricuspid valve dysplasia
OrphaCode: 555874
DisorderType: Morphological anomaly
Name: Ebstein malformation of the tricuspid valve
OrphaCode: 1880
DisorderType: Morphological anomaly
Name: Tricuspid atresia
OrphaCode: 1209
DisorderType: Morphological anomaly
Name: Tricuspid valve agenesis
OrphaCode: 95457
DisorderType: Morphological anomaly
Name: Atrioventricular septal defect
OrphaCode: 98722
DisorderType: Clinical group
Children: Name: Complete atrioventricular septal defect
OrphaCode: 1329
DisorderType: Morphological anomaly
Children: Name: Complete atrioventricular septal defect without ventricular hypoplasia
OrphaCode: 576227
DisorderType: Clinical subtype
Name: Complete atrioventricular septal defect with ventricular hypoplasia
OrphaCode: 99067
DisorderType: Clinical subtype
Name: Complete atrioventricular septal defect-tetralogy of Fallot
OrphaCode: 99068
DisorderType: Clinical subtype
Name: Partial atrioventricular septal defect
OrphaCode: 1330
DisorderType: Morphological anomaly
Children: Name: Partial atrioventricular septal defect with ventricular hypoplasia
OrphaCode: 576232
DisorderType: Clinical subtype
Name: Partial atrioventricular septal defect without ventricular hypoplasia
OrphaCode: 576235
DisorderType: Clinical subtype
Name: Intermediate atrioventricular septal defect
OrphaCode: 576242
DisorderType: Morphological anomaly
Name: FLNA-related X-linked myxomatous valvular dysplasia
OrphaCode: 555877
DisorderType: Morphological anomaly
Name: Congenital anomaly of the great arteries
OrphaCode: 98724
DisorderType: Category
Children: Name: Aortic arch defects
OrphaCode: 1132
DisorderType: Category
Children: Name: Encircling double aortic arch
OrphaCode: 99075
DisorderType: Morphological anomaly
Name: Persistent fifth aortic arch
OrphaCode: 99076
DisorderType: Morphological anomaly
Name: Kommerell diverticulum
OrphaCode: 99077
DisorderType: Morphological anomaly
Name: Neuhauser anomaly
OrphaCode: 99078
DisorderType: Morphological anomaly
Name: Cervical aortic arch
OrphaCode: 99079
DisorderType: Morphological anomaly
Name: Right aortic arch
OrphaCode: 99081
DisorderType: Morphological anomaly
Name: Dysphagia lusoria
OrphaCode: 99082
DisorderType: Morphological anomaly
Name: Scimitar syndrome
OrphaCode: 185
DisorderType: Malformation syndrome
Name: Arterial duct anomaly
OrphaCode: 95485
DisorderType: Category
Children: Name: Premature closure of the arterial duct
OrphaCode: 95486
DisorderType: Morphological anomaly
Name: Congenital patent ductus arteriosus aneurysm
OrphaCode: 99072
DisorderType: Morphological anomaly
Name: Familial patent arterial duct
OrphaCode: 466729
DisorderType: Morphological anomaly
Name: Aortic malformation
OrphaCode: 98718
DisorderType: Category
Children: Name: Supravalvular aortic stenosis
OrphaCode: 3193
DisorderType: Morphological anomaly
Name: Aorta coarctation
OrphaCode: 1457
DisorderType: Morphological anomaly
Name: Aortic arch interruption
OrphaCode: 2299
DisorderType: Morphological anomaly
Name: Fixed subaortic stenosis
OrphaCode: 3092
DisorderType: Morphological anomaly
Children: Name: Discrete fixed membranous subaortic stenosis
OrphaCode: 99051
DisorderType: Clinical subtype
Name: Discrete fibromuscular subaortic stenosis
OrphaCode: 99052
DisorderType: Clinical subtype
Name: Tunnel subaortic stenosis
OrphaCode: 99053
DisorderType: Clinical subtype
Name: Congenital aortic valve stenosis
OrphaCode: 3093
DisorderType: Morphological anomaly
Children: Name: Congenital aortic valve atresia
OrphaCode: 95448
DisorderType: Clinical subtype
Name: Congenital aortic valve dysplasia
OrphaCode: 101043
DisorderType: Clinical subtype
Name: Familial bicuspid aortic valve
OrphaCode: 402075
DisorderType: Morphological anomaly
Name: Middle aortic syndrome
OrphaCode: 1456
DisorderType: Morphological anomaly
Name: Quadricuspid aortic valve
OrphaCode: 542568
DisorderType: Morphological anomaly
Name: Pulmonary artery or pulmonary branch anomaly
OrphaCode: 98719
DisorderType: Category
Children: Name: Pulmonary atresia-intact ventricular septum syndrome
OrphaCode: 1208
DisorderType: Morphological anomaly
Name: Pulmonary valve agenesis
OrphaCode: 982
DisorderType: Clinical group
Children: Name: Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome
OrphaCode: 99048
DisorderType: Malformation syndrome
Name: Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
OrphaCode: 101206
DisorderType: Malformation syndrome
Name: Absence of the pulmonary artery
OrphaCode: 980
DisorderType: Morphological anomaly
Name: Congenital pulmonary valvar stenosis
OrphaCode: 3189
DisorderType: Morphological anomaly
Children: Name: Subpulmonary stenosis
OrphaCode: 3190
DisorderType: Clinical subtype
Name: Supravalvular pulmonary stenosis
OrphaCode: 3192
DisorderType: Clinical subtype
Name: Valvular pulmonary stenosis
OrphaCode: 99054
DisorderType: Clinical subtype
Name: Idiopathic pulmonary artery dilatation
OrphaCode: 1676
DisorderType: Disease
Name: Pulmonary artery hypoplasia
OrphaCode: 99083
DisorderType: Morphological anomaly
Name: Peripheral pulmonary stenosis
OrphaCode: 99084
DisorderType: Morphological anomaly
Name: Ascending aorta anomaly
OrphaCode: 98725
DisorderType: Category
Children: Name: Aneurysm of sinus of Valsalva
OrphaCode: 1054
DisorderType: Morphological anomaly
Name: Congenital aortic valve stenosis
OrphaCode: 3093
DisorderType: Morphological anomaly
Children: Name: Congenital aortic valve atresia
OrphaCode: 95448
DisorderType: Clinical subtype
Name: Congenital aortic valve dysplasia
OrphaCode: 101043
DisorderType: Clinical subtype
Name: Aorto-ventricular tunnel
OrphaCode: 3400
DisorderType: Morphological anomaly
Children: Name: Aorto-right ventricular tunnel
OrphaCode: 99070
DisorderType: Clinical subtype
Name: Aorto-left ventricular tunnel
OrphaCode: 99071
DisorderType: Clinical subtype
Name: Rare atrial defect and interatrial communication
OrphaCode: 98727
DisorderType: Category
Children: Name: Interatrial communication
OrphaCode: 1478
DisorderType: Morphological anomaly
Children: Name: Atrial septal defect, ostium secundum type
OrphaCode: 99103
DisorderType: Clinical subtype
Name: Atrial septal defect, coronary sinus type
OrphaCode: 99104
DisorderType: Clinical subtype
Name: Atrial septal defect, sinus venosus type
OrphaCode: 99105
DisorderType: Clinical subtype
Name: Atrial septal defect, ostium primum type
OrphaCode: 99106
DisorderType: Clinical subtype
Name: Triatrial heart
OrphaCode: 1463
DisorderType: Clinical group
Children: Name: Cor triatriatum dexter
OrphaCode: 99098
DisorderType: Morphological anomaly
Name: Cor triatriatum sinister
OrphaCode: 99099
DisorderType: Morphological anomaly
Name: Familial idiopathic dilatation of the right atrium
OrphaCode: 1677
DisorderType: Morphological anomaly
Name: Atrial appendage anomaly
OrphaCode: 95510
DisorderType: Category
Children: Name: Juxtaposition of the atrial appendages
OrphaCode: 99100
DisorderType: Morphological anomaly
Name: Ectasia of the right atrial appendage
OrphaCode: 99101
DisorderType: Morphological anomaly
Name: Ectasia of the left atrial appendage
OrphaCode: 99102
DisorderType: Morphological anomaly
Name: Atrial septal aneurysm
OrphaCode: 99107
DisorderType: Morphological anomaly
Name: EPHB4-related lymphatic-related hydrops fetalis
OrphaCode: 568065
DisorderType: Disease
Name: Congenital anomaly of the great veins
OrphaCode: 363189
DisorderType: Category
Children: Name: Congenital systemic veins anomaly
OrphaCode: 3091
DisorderType: Category
Children: Name: Congenital anomaly of superior vena cava
OrphaCode: 95498
DisorderType: Category
Children: Name: Primary superior vena cava aneurysm
OrphaCode: 652668
DisorderType: Malformation syndrome
Name: Persistent left superior vena cava connecting through coronary sinus to left-sided atrium
OrphaCode: 99109
DisorderType: Morphological anomaly
Name: Right superior vena cava connecting to left-sided atrium
OrphaCode: 99110
DisorderType: Morphological anomaly
Name: Persistent left superior vena cava connecting to the roof of left-sided atrium
OrphaCode: 99111
DisorderType: Morphological anomaly
Name: Absence of innominate vein
OrphaCode: 99112
DisorderType: Morphological anomaly
Name: Subaortic course of innominate vein
OrphaCode: 99113
DisorderType: Morphological anomaly
Name: Agenesis of the superior vena cava
OrphaCode: 99114
DisorderType: Morphological anomaly
Name: Congenital anomaly of the inferior vena cava
OrphaCode: 95499
DisorderType: Category
Children: Name: Primary inferior vena cava aneurysm
OrphaCode: 652678
DisorderType: Morphological anomaly
Name: Right inferior vena cava connecting to left-sided atrium
OrphaCode: 99119
DisorderType: Morphological anomaly
Name: Persistent eustachian valve
OrphaCode: 99120
DisorderType: Morphological anomaly
Name: Azygos continuation of the inferior vena cava
OrphaCode: 99121
DisorderType: Morphological anomaly
Name: Congenital stenosis of the inferior vena cava
OrphaCode: 99122
DisorderType: Morphological anomaly
Name: Inferior vena cava interruption without azygos continuation
OrphaCode: 99123
DisorderType: Morphological anomaly
Name: Congenital anomaly of the coronary sinus
OrphaCode: 95500
DisorderType: Category
Children: Name: Coronary sinus stenosis
OrphaCode: 99117
DisorderType: Morphological anomaly
Name: Coronary sinus atresia
OrphaCode: 99118
DisorderType: Morphological anomaly
Name: Congenital anomaly of hepatic vein
OrphaCode: 95507
DisorderType: Morphological anomaly
Name: Congenital portosystemic shunt
OrphaCode: 480531
DisorderType: Morphological anomaly
Name: Congenital pulmonary veins anomaly
OrphaCode: 98729
DisorderType: Category
Children: Name: Congenital pulmonary venous return anomaly
OrphaCode: 3090
DisorderType: Clinical group
Children: Name: Congenital partial pulmonary venous return anomaly
OrphaCode: 99124
DisorderType: Morphological anomaly
Name: Congenital total pulmonary venous return anomaly
OrphaCode: 99125
DisorderType: Morphological anomaly
Name: Scimitar syndrome
OrphaCode: 185
DisorderType: Malformation syndrome
Name: Congenital pulmonary veins atresia or stenosis
OrphaCode: 3188
DisorderType: Clinical group
Children: Name: Congenital pulmonary vein atresia
OrphaCode: 99126
DisorderType: Morphological anomaly
Name: Primary pulmonary vein stenosis
OrphaCode: 642071
DisorderType: Disease
Name: Ectopia cordis
OrphaCode: 448270
DisorderType: Morphological anomaly
Name: Congenital left ventricular aneurysm
OrphaCode: 1055
DisorderType: Malformation syndrome
Name: Rare syndrome with cardiac malformations
OrphaCode: 156532
DisorderType: Category
Children: Name: Transketolase deficiency
OrphaCode: 488618
DisorderType: Malformation syndrome
Name: Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
OrphaCode: 467176
DisorderType: Disease
Name: White forelock with malformations
OrphaCode: 2475
DisorderType: Malformation syndrome
Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: 22q11.2 deletion syndrome
OrphaCode: 567
DisorderType: Malformation syndrome
Name: Williams syndrome
OrphaCode: 904
DisorderType: Malformation syndrome
Name: Alagille syndrome
OrphaCode: 52
DisorderType: Malformation syndrome
Children: Name: Alagille syndrome due to 20p12 microdeletion
OrphaCode: 261600
DisorderType: Etiological subtype
Name: Alagille syndrome due to a JAG1 point mutation
OrphaCode: 261619
DisorderType: Etiological subtype
Name: Alagille syndrome due to a NOTCH2 point mutation
OrphaCode: 261629
DisorderType: Etiological subtype
Name: Ellis Van Creveld syndrome
OrphaCode: 289
DisorderType: Malformation syndrome
Name: Holt-Oram syndrome
OrphaCode: 392
DisorderType: Malformation syndrome
Name: Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
OrphaCode: 1352
DisorderType: Malformation syndrome
Name: Microcephaly-cardiac defect-lung malsegmentation syndrome
OrphaCode: 2516
DisorderType: Malformation syndrome
Name: TARP syndrome
OrphaCode: 2886
DisorderType: Malformation syndrome
Name: Atrial septal defect-atrioventricular conduction defects syndrome
OrphaCode: 1479
DisorderType: Malformation syndrome
Name: Thomas syndrome
OrphaCode: 3316
DisorderType: Malformation syndrome
Name: PHACE syndrome
OrphaCode: 42775
DisorderType: Malformation syndrome
Name: Bosley-Salih-Alorainy syndrome
OrphaCode: 69737
DisorderType: Malformation syndrome
Name: Brain malformation-congenital heart disease-postaxial polydactyly syndrome
OrphaCode: 75389
DisorderType: Malformation syndrome
Name: Cardiac anomalies-heterotaxy syndrome
OrphaCode: 137628
DisorderType: Malformation syndrome
Name: Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
OrphaCode: 217026
DisorderType: Malformation syndrome
Name: Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
OrphaCode: 228190
DisorderType: Malformation syndrome
Name: Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
OrphaCode: 228410
DisorderType: Malformation syndrome
Children: Name: 6q25.1 microdeletion syndrome
OrphaCode: 664404
DisorderType: Etiological subtype
Name: Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation
OrphaCode: 664401
DisorderType: Etiological subtype
Name: Cardiac-valvular Ehlers-Danlos syndrome
OrphaCode: 230851
DisorderType: Disease
Name: Familial retinal arterial macroaneurysm
OrphaCode: 284247
DisorderType: Malformation syndrome
Name: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
OrphaCode: 369891
DisorderType: Malformation syndrome
Name: Congenital disorder of glycosylation with cardiac malformation as a major feature
OrphaCode: 371183
DisorderType: Category
Children: Name: Peters plus syndrome
OrphaCode: 709
DisorderType: Malformation syndrome
Name: Musculocontractural Ehlers-Danlos syndrome
OrphaCode: 2953
DisorderType: Disease
Name: CHIME syndrome
OrphaCode: 3474
DisorderType: Malformation syndrome
Name: MGAT2-CDG
OrphaCode: 79329
DisorderType: Disease
Name: COG7-CDG
OrphaCode: 79333
DisorderType: Disease
Name: Larsen-like syndrome, B3GAT3 type
OrphaCode: 284139
DisorderType: Malformation syndrome
Name: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
OrphaCode: 444077
DisorderType: Malformation syndrome
Name: Noonan syndrome and Noonan-related syndrome
OrphaCode: 98733
DisorderType: Category
Children: Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Costello syndrome
OrphaCode: 3071
DisorderType: Malformation syndrome
Name: Noonan syndrome with multiple lentigines
OrphaCode: 500
DisorderType: Malformation syndrome
Name: Cardiofaciocutaneous syndrome
OrphaCode: 1340
DisorderType: Malformation syndrome
Name: Noonan syndrome-like disorder with loose anagen hair
OrphaCode: 2701
DisorderType: Malformation syndrome
Name: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
OrphaCode: 363972
DisorderType: Malformation syndrome
Name: Neurofibromatosis-Noonan syndrome
OrphaCode: 638
DisorderType: Malformation syndrome
Name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
OrphaCode: 453499
DisorderType: Malformation syndrome
Children: Name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
OrphaCode: 352665
DisorderType: Etiological subtype
Name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
OrphaCode: 453504
DisorderType: Etiological subtype
Name: Subaortic stenosis-short stature syndrome
OrphaCode: 3191
DisorderType: Malformation syndrome
Name: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
OrphaCode: 457193
DisorderType: Malformation syndrome
Name: TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome
OrphaCode: 562569
DisorderType: Malformation syndrome
Name: Down syndrome
OrphaCode: 870
DisorderType: Malformation syndrome
Name: Microcephaly-seizures-intellectual disability-heart disease syndrome
OrphaCode: 2519
DisorderType: Malformation syndrome
Name: Congenital vertebral-cardiac-renal anomalies syndrome
OrphaCode: 521438
DisorderType: Malformation syndrome
Name: Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
OrphaCode: 496693
DisorderType: Malformation syndrome
Name: Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
OrphaCode: 508476
DisorderType: Malformation syndrome
Name: 8q24.3 microdeletion syndrome
OrphaCode: 508488
DisorderType: Malformation syndrome
Name: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
OrphaCode: 508498
DisorderType: Malformation syndrome
Name: Heart defects-limb shortening syndrome
OrphaCode: 1354
DisorderType: Malformation syndrome
Name: Lethal brain and heart developmental defects
OrphaCode: 580933
DisorderType: Malformation syndrome
Name: Spondylometaphyseal dysplasia-corneal dystrophy syndrome
OrphaCode: 589435
DisorderType: Malformation syndrome
Name: TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
OrphaCode: 592570
DisorderType: Malformation syndrome
Name: SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
OrphaCode: 597743
DisorderType: Malformation syndrome
Name: Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome
OrphaCode: 664438
DisorderType: Malformation syndrome
Name: Cranial malformation
OrphaCode: 98038
DisorderType: Category
Children: Name: Hunter-McAlpine syndrome
OrphaCode: 97340
DisorderType: Malformation syndrome
Name: Cole-Carpenter syndrome
OrphaCode: 2050
DisorderType: Malformation syndrome
Name: Cleidocranial dysplasia
OrphaCode: 1452
DisorderType: Malformation syndrome
Name: Craniosynostosis
OrphaCode: 1531
DisorderType: Category
Children: Name: Non-syndromic craniosynostosis
OrphaCode: 139390
DisorderType: Clinical group
Children: Name: Non-syndromic unisutural craniosynostosis
OrphaCode: 620096
DisorderType: Clinical group
Children: Name: Non-syndromic unicoronal craniosynostosis
OrphaCode: 620102
DisorderType: Morphological anomaly
Name: Non-syndromic unilambdoid craniosynostosis
OrphaCode: 620113
DisorderType: Morphological anomaly
Name: Non-syndromic unifrontosphenoidal craniosynostosis
OrphaCode: 620139
DisorderType: Morphological anomaly
Name: Non-syndromic unisquamosal craniosynostosis
OrphaCode: 620146
DisorderType: Morphological anomaly
Name: Non-syndromic metopic craniosynostosis
OrphaCode: 3366
DisorderType: Morphological anomaly
Name: Non-syndromic sagittal craniosynostosis
OrphaCode: 35093
DisorderType: Morphological anomaly
Name: Non-syndromic multisutural craniosynostosis
OrphaCode: 620152
DisorderType: Clinical group
Children: Name: Non-syndromic non-specific multisutural craniosynostosis
OrphaCode: 620158
DisorderType: Morphological anomaly
Name: Non-syndromic bilambdoid craniosynostosis
OrphaCode: 620178
DisorderType: Morphological anomaly
Name: Non-syndromic unicoronal and sagittal craniosynostosis
OrphaCode: 620186
DisorderType: Morphological anomaly
Name: Non-syndromic metopic and sagittal craniosynostosis
OrphaCode: 620192
DisorderType: Morphological anomaly
Name: Non-syndromic bicoronal and metopic craniosynostosis
OrphaCode: 620198
DisorderType: Morphological anomaly
Name: Non-syndromic bicoronal and sagittal craniosynostosis
OrphaCode: 620205
DisorderType: Morphological anomaly
Name: Non-syndromic pansynostosis
OrphaCode: 620212
DisorderType: Morphological anomaly
Name: Non-syndromic bicoronal craniosynostosis
OrphaCode: 35099
DisorderType: Morphological anomaly
Name: Non-syndromic bilambdoid and sagittal craniosynostosis
OrphaCode: 1516
DisorderType: Malformation syndrome
Name: Syndromic craniosynostosis
OrphaCode: 139393
DisorderType: Category
Children: Name: Crouzon syndrome
OrphaCode: 207
DisorderType: Malformation syndrome
Name: C syndrome
OrphaCode: 1308
DisorderType: Malformation syndrome
Name: Apert syndrome
OrphaCode: 87
DisorderType: Malformation syndrome
Name: Antley-Bixler syndrome
OrphaCode: 83
DisorderType: Malformation syndrome
Children: Name: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
OrphaCode: 63269
DisorderType: Clinical subtype
Name: Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis
OrphaCode: 596008
DisorderType: Clinical subtype
Name: Baller-Gerold syndrome
OrphaCode: 1225
DisorderType: Malformation syndrome
Name: Cranioectodermal dysplasia
OrphaCode: 1515
DisorderType: Malformation syndrome
Name: Craniosynostosis, Philadelphia type
OrphaCode: 1527
DisorderType: Malformation syndrome
Name: Craniotelencephalic dysplasia
OrphaCode: 1528
DisorderType: Malformation syndrome
Name: Jackson-Weiss syndrome
OrphaCode: 1540
DisorderType: Malformation syndrome
Name: Curry-Jones syndrome
OrphaCode: 1553
DisorderType: Malformation syndrome
Name: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
OrphaCode: 1555
DisorderType: Malformation syndrome
Name: Craniosynostosis, Herrmann-Opitz type
OrphaCode: 2145
DisorderType: Malformation syndrome
Name: Holoprosencephaly-craniosynostosis syndrome
OrphaCode: 2163
DisorderType: Malformation syndrome
Name: Lowry-MacLean syndrome
OrphaCode: 2409
DisorderType: Malformation syndrome
Name: Shprintzen-Goldberg syndrome
OrphaCode: 2462
DisorderType: Malformation syndrome
Name: Cardiocranial syndrome, Pfeiffer type
OrphaCode: 2872
DisorderType: Malformation syndrome
Name: SCARF syndrome
OrphaCode: 3134
DisorderType: Malformation syndrome
Name: FGFR2-related bent bone dysplasia
OrphaCode: 313855
DisorderType: Disease
Name: Trigonocephaly-broad thumbs syndrome
OrphaCode: 3365
DisorderType: Malformation syndrome
Name: Trigonocephaly-short stature-developmental delay syndrome
OrphaCode: 3369
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-plagiocephaly syndrome
OrphaCode: 2898
DisorderType: Malformation syndrome
Name: Craniosynostosis, Boston type
OrphaCode: 1541
DisorderType: Malformation syndrome
Name: Craniomicromelic syndrome
OrphaCode: 1524
DisorderType: Malformation syndrome
Name: Craniosynostosis-intracranial calcifications syndrome
OrphaCode: 52054
DisorderType: Malformation syndrome
Name: Muenke syndrome
OrphaCode: 53271
DisorderType: Malformation syndrome
Name: Infantile hypophosphatasia
OrphaCode: 247651
DisorderType: Clinical subtype
Name: Craniosynostosis-anal anomalies-porokeratosis syndrome
OrphaCode: 85199
DisorderType: Malformation syndrome
Name: Crouzon syndrome-acanthosis nigricans syndrome
OrphaCode: 93262
DisorderType: Malformation syndrome
Name: Cloverleaf skull-multiple congenital anomalies syndrome
OrphaCode: 93267
DisorderType: Malformation syndrome
Name: Prenatal benign hypophosphatasia
OrphaCode: 247638
DisorderType: Clinical subtype
Name: Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
OrphaCode: 100978
DisorderType: Malformation syndrome
Name: Familial scaphocephaly syndrome
OrphaCode: 169163
DisorderType: Category
Children: Name: Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
OrphaCode: 1538
DisorderType: Malformation syndrome
Name: Familial scaphocephaly syndrome, McGillivray type
OrphaCode: 168624
DisorderType: Malformation syndrome
Name: Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
OrphaCode: 171839
DisorderType: Malformation syndrome
Name: Osteosclerosis-developmental delay-craniosynostosis syndrome
OrphaCode: 178377
DisorderType: Malformation syndrome
Name: Acrocephalopolydactyly
OrphaCode: 221054
DisorderType: Malformation syndrome
Name: Craniosynostosis-dental anomalies
OrphaCode: 284149
DisorderType: Malformation syndrome
Name: Lethal occipital encephalocele-skeletal dysplasia syndrome
OrphaCode: 293925
DisorderType: Malformation syndrome
Name: Childhood-onset hypophosphatasia
OrphaCode: 247667
DisorderType: Clinical subtype
Name: 3MC syndrome
OrphaCode: 293843
DisorderType: Malformation syndrome
Name: Mucopolysaccharidosis
OrphaCode: 79213
DisorderType: Category
Children: Name: Mucopolysaccharidosis type 6
OrphaCode: 583
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 6, rapidly progressing
OrphaCode: 276212
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 6, slowly progressing
OrphaCode: 276223
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 7
OrphaCode: 584
DisorderType: Disease
Name: Mucopolysaccharidosis type 2
OrphaCode: 580
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 2, severe form
OrphaCode: 217085
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 2, attenuated form
OrphaCode: 217093
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 1
OrphaCode: 579
DisorderType: Disease
Children: Name: Hurler syndrome
OrphaCode: 93473
DisorderType: Clinical subtype
Name: Scheie syndrome
OrphaCode: 93474
DisorderType: Clinical subtype
Name: Hurler-Scheie syndrome
OrphaCode: 93476
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 3
OrphaCode: 581
DisorderType: Disease
Children: Name: Sanfilippo syndrome type A
OrphaCode: 79269
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type B
OrphaCode: 79270
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type C
OrphaCode: 79271
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type D
OrphaCode: 79272
DisorderType: Etiological subtype
Name: Mucopolysaccharidosis type 4
OrphaCode: 582
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 4B
OrphaCode: 309310
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 4A
OrphaCode: 309297
DisorderType: Clinical subtype
Name: Hyaluronidase deficiency
OrphaCode: 67041
DisorderType: Disease
Name: Mucopolysaccharidosis type 10
OrphaCode: 662216
DisorderType: Disease
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Osteoglosphonic dysplasia
OrphaCode: 2645
DisorderType: Malformation syndrome
Name: Williams syndrome
OrphaCode: 904
DisorderType: Malformation syndrome
Name: Radioulnar synostosis-developmental delay-hypotonia syndrome
OrphaCode: 3270
DisorderType: Malformation syndrome
Name: Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
OrphaCode: 369837
DisorderType: Malformation syndrome
Name: Craniofrontonasal dysplasia
OrphaCode: 1520
DisorderType: Malformation syndrome
Name: Carpenter syndrome
OrphaCode: 65759
DisorderType: Malformation syndrome
Name: Thanatophoric dysplasia
OrphaCode: 2655
DisorderType: Disease
Children: Name: Thanatophoric dysplasia type 1
OrphaCode: 1860
DisorderType: Clinical subtype
Name: Thanatophoric dysplasia type 2
OrphaCode: 93274
DisorderType: Clinical subtype
Name: Pycnodysostosis
OrphaCode: 763
DisorderType: Disease
Name: Coffin-Siris syndrome
OrphaCode: 1465
DisorderType: Malformation syndrome
Name: Acrocallosal syndrome
OrphaCode: 36
DisorderType: Malformation syndrome
Name: Dubowitz syndrome
OrphaCode: 235
DisorderType: Malformation syndrome
Name: Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome
OrphaCode: 647681
DisorderType: Malformation syndrome
Name: Craniosynostosis-microretrognathia-severe intellectual disability syndrome
OrphaCode: 565858
DisorderType: Malformation syndrome
Name: Craniosynostosis-facial dysmorphism-brachydactyly syndrome
OrphaCode: 672979
DisorderType: Malformation syndrome
Name: Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome
OrphaCode: 672985
DisorderType: Malformation syndrome
Name: KBG syndrome
OrphaCode: 2332
DisorderType: Malformation syndrome
Name: Koolen-De Vries syndrome
OrphaCode: 96169
DisorderType: Malformation syndrome
Children: Name: 17q21.31 microdeletion syndrome
OrphaCode: 363958
DisorderType: Etiological subtype
Name: Koolen-De Vries syndrome due to a point mutation
OrphaCode: 363965
DisorderType: Etiological subtype
Name: Bohring-Opitz syndrome
OrphaCode: 97297
DisorderType: Malformation syndrome
Name: Fetal valproate spectrum disorder
OrphaCode: 1906
DisorderType: Malformation syndrome
Name: Pfeiffer syndrome
OrphaCode: 710
DisorderType: Malformation syndrome
Children: Name: Pfeiffer syndrome type 1
OrphaCode: 93258
DisorderType: Clinical subtype
Name: Pfeiffer syndrome type 2
OrphaCode: 93259
DisorderType: Clinical subtype
Name: Pfeiffer syndrome type 3
OrphaCode: 93260
DisorderType: Clinical subtype
Name: Saethre-Chotzen syndrome
OrphaCode: 794
DisorderType: Malformation syndrome
Name: Acalvaria
OrphaCode: 945
DisorderType: Malformation syndrome
Name: Craniodiaphyseal dysplasia
OrphaCode: 1513
DisorderType: Malformation syndrome
Name: Hypomandibular faciocranial dysostosis
OrphaCode: 1790
DisorderType: Malformation syndrome
Name: Delayed membranous cranial ossification
OrphaCode: 3034
DisorderType: Malformation syndrome
Name: Enlarged parietal foramina
OrphaCode: 60015
DisorderType: Malformation syndrome
Name: Morgagni-Stewart-Morel syndrome
OrphaCode: 77296
DisorderType: Malformation syndrome
Name: Parietal foramina with clavicular hypoplasia
OrphaCode: 251290
DisorderType: Malformation syndrome
Name: Aplasia cutis congenita
OrphaCode: 1114
DisorderType: Malformation syndrome
Name: Adams-Oliver syndrome
OrphaCode: 974
DisorderType: Malformation syndrome
Name: Craniometaphyseal dysplasia
OrphaCode: 1522
DisorderType: Malformation syndrome
Name: Frontometaphyseal dysplasia
OrphaCode: 1826
DisorderType: Disease
Name: Osteopathia striata-cranial sclerosis syndrome
OrphaCode: 2780
DisorderType: Malformation syndrome
Name: Osteocraniostenosis
OrphaCode: 2763
DisorderType: Malformation syndrome
Name: Digestive tract malformation
OrphaCode: 98039
DisorderType: Category
Children: Name: Esophageal malformation
OrphaCode: 88993
DisorderType: Category
Children: Name: Non-syndromic esophageal malformation
OrphaCode: 108959
DisorderType: Category
Children: Name: Esophageal atresia
OrphaCode: 1199
DisorderType: Morphological anomaly
Name: Duplication of the esophagus
OrphaCode: 91357
DisorderType: Clinical group
Children: Name: Esophageal duplication cyst
OrphaCode: 100047
DisorderType: Morphological anomaly
Name: Tubular duplication of the esophagus
OrphaCode: 100048
DisorderType: Morphological anomaly
Name: Congenital esophageal diverticulum
OrphaCode: 91358
DisorderType: Morphological anomaly
Name: Congenital esophageal stenosis
OrphaCode: 645749
DisorderType: Morphological anomaly
Name: Laryngotracheoesophageal cleft
OrphaCode: 2004
DisorderType: Morphological anomaly
Children: Name: Laryngotracheoesophageal cleft type 1
OrphaCode: 93938
DisorderType: Clinical subtype
Name: Laryngotracheoesophageal cleft type 2
OrphaCode: 93939
DisorderType: Clinical subtype
Name: Laryngotracheoesophageal cleft type 3
OrphaCode: 93940
DisorderType: Clinical subtype
Name: Laryngotracheoesophageal cleft type 4
OrphaCode: 93941
DisorderType: Clinical subtype
Name: Laryngotracheoesophageal cleft type 0
OrphaCode: 280205
DisorderType: Clinical subtype
Name: Isolated tracheoesophageal fistula
OrphaCode: 454750
DisorderType: Morphological anomaly
Name: Syndromic esophageal malformation
OrphaCode: 108961
DisorderType: Category
Children: Name: VACTERL/VATER association
OrphaCode: 887
DisorderType: Malformation syndrome
Name: Triple A syndrome
OrphaCode: 869
DisorderType: Disease
Name: Achalasia-microcephaly syndrome
OrphaCode: 929
DisorderType: Malformation syndrome
Name: Feingold syndrome
OrphaCode: 1305
DisorderType: Malformation syndrome
Children: Name: Feingold syndrome type 1
OrphaCode: 391641
DisorderType: Clinical subtype
Name: Feingold syndrome type 2
OrphaCode: 391646
DisorderType: Clinical subtype
Name: Anophthalmia/microphthalmia-esophageal atresia syndrome
OrphaCode: 77298
DisorderType: Malformation syndrome
Name: Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome
OrphaCode: 514352
DisorderType: Malformation syndrome
Name: Anorectal malformation
OrphaCode: 96346
DisorderType: Category
Children: Name: Non-syndromic anorectal malformation
OrphaCode: 557
DisorderType: Clinical group
Children: Name: Non-syndromic anorectal malformation with perineal fistula
OrphaCode: 600952
DisorderType: Morphological anomaly
Name: Non-syndromic anorectal malformation with rectourethral fistula
OrphaCode: 600961
DisorderType: Morphological anomaly
Children: Name: Non-syndromic anorectal malformation with rectourethral fistula, bulbar type
OrphaCode: 600966
DisorderType: Clinical subtype
Name: Non-syndromic anorectal malformation with rectourethral fistula, prostatic type
OrphaCode: 600975
DisorderType: Clinical subtype
Name: Non-syndromic anorectal malformation with rectovesical fistula
OrphaCode: 600984
DisorderType: Morphological anomaly
Name: Non-syndromic anorectal malformation with vestibular fistula
OrphaCode: 600993
DisorderType: Morphological anomaly
Name: Non-syndromic cloacal malformation
OrphaCode: 600998
DisorderType: Morphological anomaly
Name: Non-syndromic anorectal malformation without fistula
OrphaCode: 601002
DisorderType: Morphological anomaly
Name: Non-syndromic anorectal malformation with anal stenosis
OrphaCode: 601008
DisorderType: Morphological anomaly
Name: Non-syndromic anorectal malformation with pouch colon
OrphaCode: 601013
DisorderType: Morphological anomaly
Name: Non-syndromic anorectal malformation with rectal atresia
OrphaCode: 601018
DisorderType: Morphological anomaly
Name: Non-syndromic anorectal malformation with rectal stenosis
OrphaCode: 601023
DisorderType: Morphological anomaly
Name: Non-syndromic anorectal malformation with rectovaginal fistula
OrphaCode: 601028
DisorderType: Morphological anomaly
Name: Non-syndromic anorectal malformation with H-type fistula
OrphaCode: 601033
DisorderType: Morphological anomaly
Name: Syndromic anorectal malformation
OrphaCode: 117573
DisorderType: Category
Children: Name: 22q11.2 deletion syndrome
OrphaCode: 567
DisorderType: Malformation syndrome
Name: Townes-Brocks syndrome
OrphaCode: 857
DisorderType: Malformation syndrome
Name: Cat-eye syndrome
OrphaCode: 195
DisorderType: Malformation syndrome
Name: Trisomy 13
OrphaCode: 3378
DisorderType: Malformation syndrome
Name: Trisomy 18
OrphaCode: 3380
DisorderType: Malformation syndrome
Name: Tetrasomy 12p
OrphaCode: 884
DisorderType: Malformation syndrome
Name: VACTERL/VATER association
OrphaCode: 887
DisorderType: Malformation syndrome
Name: Fraser syndrome
OrphaCode: 2052
DisorderType: Malformation syndrome
Name: Currarino syndrome
OrphaCode: 1552
DisorderType: Malformation syndrome
Name: Distal deletion 13q
OrphaCode: 1590
DisorderType: Malformation syndrome
Name: Baller-Gerold syndrome
OrphaCode: 1225
DisorderType: Malformation syndrome
Name: Cataract-intellectual disability-anal atresia-urinary defects syndrome
OrphaCode: 1381
DisorderType: Malformation syndrome
Name: X-linked skeletal dysplasia-intellectual disability syndrome
OrphaCode: 1436
DisorderType: Malformation syndrome
Name: Caudal duplication
OrphaCode: 1756
DisorderType: Malformation syndrome
Name: Axial mesodermal dysplasia spectrum
OrphaCode: 1834
DisorderType: Malformation syndrome
Name: Pallister-Hall syndrome
OrphaCode: 672
DisorderType: Malformation syndrome
Name: Johanson-Blizzard syndrome
OrphaCode: 2315
DisorderType: Malformation syndrome
Name: Kabuki syndrome
OrphaCode: 2322
DisorderType: Malformation syndrome
Name: Lowe-Kohn-Cohen syndrome
OrphaCode: 2408
DisorderType: Malformation syndrome
Name: Microphthalmia with linear skin defects syndrome
OrphaCode: 2556
DisorderType: Malformation syndrome
Name: Mayer-Rokitansky-Küster-Hauser syndrome type 2
OrphaCode: 2578
DisorderType: Clinical subtype
Name: 46,XX difference of sex development-anorectal anomalies syndrome
OrphaCode: 2973
DisorderType: Malformation syndrome
Name: Ulnar-mammary syndrome
OrphaCode: 3138
DisorderType: Malformation syndrome
Name: VACTERL with hydrocephalus
OrphaCode: 3412
DisorderType: Malformation syndrome
Name: Opitz GBBB syndrome
OrphaCode: 2745
DisorderType: Malformation syndrome
Name: Axenfeld-Rieger syndrome
OrphaCode: 782
DisorderType: Malformation syndrome
Name: 6q terminal deletion syndrome
OrphaCode: 75857
DisorderType: Malformation syndrome
Name: LUMBAR syndrome
OrphaCode: 83628
DisorderType: Malformation syndrome
Name: Short rib-polydactyly syndrome, Verma-Naumoff type
OrphaCode: 93271
DisorderType: Malformation syndrome
Name: Okihiro syndrome
OrphaCode: 93293
DisorderType: Malformation syndrome
Children: Name: Okihiro syndrome due to 20q13 microdeletion
OrphaCode: 261638
DisorderType: Etiological subtype
Name: Okihiro syndrome due to a point mutation
OrphaCode: 261647
DisorderType: Etiological subtype
Name: Cloacal exstrophy
OrphaCode: 93929
DisorderType: Clinical subtype
Name: Ring chromosome 13 syndrome
OrphaCode: 96176
DisorderType: Malformation syndrome
Name: Maternal uniparental disomy of chromosome 16
OrphaCode: 96185
DisorderType: Malformation syndrome
Name: Syndactyly-telecanthus-anogenital and renal malformations syndrome
OrphaCode: 140952
DisorderType: Malformation syndrome
Name: BNAR syndrome
OrphaCode: 217266
DisorderType: Malformation syndrome
Name: Caudal regression-sirenomelia spectrum
OrphaCode: 444941
DisorderType: Clinical group
Children: Name: Sirenomelia
OrphaCode: 3169
DisorderType: Malformation syndrome
Name: Caudal regression syndrome
OrphaCode: 3027
DisorderType: Malformation syndrome
Name: Familial caudal dysgenesis
OrphaCode: 1768
DisorderType: Malformation syndrome
Name: EVEN-plus syndrome
OrphaCode: 496751
DisorderType: Malformation syndrome
Name: FG syndrome type 1
OrphaCode: 93932
DisorderType: Disease
Name: Down syndrome
OrphaCode: 870
DisorderType: Malformation syndrome
Name: Isolated Klippel-Feil syndrome
OrphaCode: 2345
DisorderType: Malformation syndrome
Name: Oculogastrointestinal-neurodevelopmental syndrome
OrphaCode: 611201
DisorderType: Malformation syndrome
Name: Feingold syndrome
OrphaCode: 1305
DisorderType: Malformation syndrome
Children: Name: Feingold syndrome type 1
OrphaCode: 391641
DisorderType: Clinical subtype
Name: Feingold syndrome type 2
OrphaCode: 391646
DisorderType: Clinical subtype
Name: Short rib-polydactyly syndrome, Saldino-Noonan type
OrphaCode: 93270
DisorderType: Malformation syndrome
Name: Gastroduodenal malformation
OrphaCode: 97944
DisorderType: Category
Children: Name: Non-syndromic gastroduodenal malformation
OrphaCode: 108963
DisorderType: Category
Children: Name: Gastric duplication
OrphaCode: 662376
DisorderType: Morphological anomaly
Name: Pyloric duplication
OrphaCode: 662405
DisorderType: Morphological anomaly
Name: Duodenal atresia
OrphaCode: 1203
DisorderType: Morphological anomaly
Name: Congenital microgastria
OrphaCode: 199293
DisorderType: Morphological anomaly
Name: Syndromic gastroduodenal malformation
OrphaCode: 108965
DisorderType: Category
Children: Name: Feingold syndrome
OrphaCode: 1305
DisorderType: Malformation syndrome
Children: Name: Feingold syndrome type 1
OrphaCode: 391641
DisorderType: Clinical subtype
Name: Feingold syndrome type 2
OrphaCode: 391646
DisorderType: Clinical subtype
Name: Microgastria-limb reduction defect syndrome
OrphaCode: 2538
DisorderType: Malformation syndrome
Name: Intestinal malformation
OrphaCode: 97945
DisorderType: Category
Children: Name: Non-syndromic intestinal malformation
OrphaCode: 108967
DisorderType: Category
Children: Name: Rectal duplication
OrphaCode: 171220
DisorderType: Morphological anomaly
Name: Multiple intestinal atresia
OrphaCode: 2300
DisorderType: Morphological anomaly
Name: Congenital short bowel syndrome
OrphaCode: 2301
DisorderType: Morphological anomaly
Name: Small bowel atresia
OrphaCode: 1201
DisorderType: Morphological anomaly
Name: Colonic atresia
OrphaCode: 1198
DisorderType: Morphological anomaly
Name: Small intestine duplication
OrphaCode: 662456
DisorderType: Morphological anomaly
Children: Name: Duodenal duplication
OrphaCode: 662473
DisorderType: Clinical subtype
Name: Jujeno-ileal duplication
OrphaCode: 662480
DisorderType: Clinical subtype
Name: Familial intestinal malrotation
OrphaCode: 508410
DisorderType: Morphological anomaly
Name: Colonic duplication
OrphaCode: 662392
DisorderType: Morphological anomaly
Name: Duodenal atresia
OrphaCode: 1203
DisorderType: Morphological anomaly
Name: Syndromic intestinal malformation
OrphaCode: 108969
DisorderType: Category
Children: Name: Rare disorder with Hirschsprung disease as a major feature
OrphaCode: 557866
DisorderType: Category
Children: Name: Bardet-Biedl syndrome
OrphaCode: 110
DisorderType: Disease
Name: Goldberg-Shprintzen megacolon syndrome
OrphaCode: 66629
DisorderType: Malformation syndrome
Name: Haddad syndrome
OrphaCode: 99803
DisorderType: Malformation syndrome
Name: Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
OrphaCode: 163746
DisorderType: Disease
Name: Waardenburg-Shah syndrome
OrphaCode: 897
DisorderType: Disease
Name: Hirschsprung disease-type D brachydactyly syndrome
OrphaCode: 2150
DisorderType: Malformation syndrome
Name: Mowat-Wilson syndrome
OrphaCode: 2152
DisorderType: Malformation syndrome
Children: Name: Mowat-Wilson syndrome due to monosomy 2q22
OrphaCode: 261537
DisorderType: Etiological subtype
Name: Mowat-Wilson syndrome due to a ZEB2 point mutation
OrphaCode: 261552
DisorderType: Etiological subtype
Name: Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
OrphaCode: 2153
DisorderType: Malformation syndrome
Name: Hirschsprung disease-deafness-polydactyly syndrome
OrphaCode: 2155
DisorderType: Malformation syndrome
Name: Marfanoid syndrome, De Silva type
OrphaCode: 2464
DisorderType: Malformation syndrome
Name: Thoraco-abdominal enteric duplication
OrphaCode: 1759
DisorderType: Malformation syndrome
Name: Umbilical cord ulceration-intestinal atresia syndrome
OrphaCode: 3405
DisorderType: Malformation syndrome
Name: Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
OrphaCode: 293864
DisorderType: Malformation syndrome
Name: Combined immunodeficiency-enteropathy spectrum
OrphaCode: 436252
DisorderType: Disease
Name: Diaphragmatic hernia-short bowel-asplenia syndrome
OrphaCode: 527468
DisorderType: Malformation syndrome
Name: Stromme syndrome
OrphaCode: 506307
DisorderType: Malformation syndrome
Name: Visceral malformation of the liver, biliary tract, pancreas or spleen
OrphaCode: 98041
DisorderType: Category
Children: Name: Non-syndromic visceral malformation
OrphaCode: 108971
DisorderType: Category
Children: Name: Congenital respiratory-biliary fistula
OrphaCode: 2040
DisorderType: Morphological anomaly
Name: Partial pancreatic agenesis
OrphaCode: 2805
DisorderType: Morphological anomaly
Name: Annular pancreas
OrphaCode: 675
DisorderType: Morphological anomaly
Name: Accessory pancreas
OrphaCode: 674
DisorderType: Morphological anomaly
Name: Isolated biliary atresia
OrphaCode: 30391
DisorderType: Morphological anomaly
Name: Caroli disease
OrphaCode: 53035
DisorderType: Malformation syndrome
Name: Familial isolated congenital asplenia
OrphaCode: 101351
DisorderType: Morphological anomaly
Name: Isolated splenogonadal fusion
OrphaCode: 457083
DisorderType: Morphological anomaly
Name: Situs ambiguus
OrphaCode: 157769
DisorderType: Morphological anomaly
Name: Situs inversus totalis
OrphaCode: 101063
DisorderType: Morphological anomaly
Name: Gallbladder duplication
OrphaCode: 662388
DisorderType: Morphological anomaly
Name: Syndromic visceral malformation
OrphaCode: 108973
DisorderType: Category
Children: Name: Renal-hepatic-pancreatic dysplasia
OrphaCode: 294415
DisorderType: Malformation syndrome
Name: Alagille syndrome
OrphaCode: 52
DisorderType: Malformation syndrome
Children: Name: Alagille syndrome due to 20p12 microdeletion
OrphaCode: 261600
DisorderType: Etiological subtype
Name: Alagille syndrome due to a JAG1 point mutation
OrphaCode: 261619
DisorderType: Etiological subtype
Name: Alagille syndrome due to a NOTCH2 point mutation
OrphaCode: 261629
DisorderType: Etiological subtype
Name: Meckel syndrome
OrphaCode: 564
DisorderType: Malformation syndrome
Name: Splenogonadal fusion-limb defects-micrognathia syndrome
OrphaCode: 2063
DisorderType: Malformation syndrome
Name: Biliary atresia with splenic malformation syndrome
OrphaCode: 244283
DisorderType: Malformation syndrome
Name: Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
OrphaCode: 293864
DisorderType: Malformation syndrome
Name: Right sided atrial isomerism
OrphaCode: 97548
DisorderType: Malformation syndrome
Name: Diaphragmatic hernia-short bowel-asplenia syndrome
OrphaCode: 527468
DisorderType: Malformation syndrome
Name: Pancreatic agenesis-holoprosencephaly syndrome
OrphaCode: 556955
DisorderType: Disease
Name: Diaphragmatic or abdominal wall malformation
OrphaCode: 98043
DisorderType: Category
Children: Name: Non-syndromic diaphragmatic or abdominal wall malformation
OrphaCode: 108977
DisorderType: Category
Children: Name: Congenital diaphragmatic hernia
OrphaCode: 2140
DisorderType: Morphological anomaly
Name: Omphalocele
OrphaCode: 660
DisorderType: Morphological anomaly
Name: Exstrophy-epispadias complex
OrphaCode: 322
DisorderType: Malformation syndrome
Children: Name: Isolated epispadias
OrphaCode: 93928
DisorderType: Clinical subtype
Name: Cloacal exstrophy
OrphaCode: 93929
DisorderType: Clinical subtype
Name: Bladder exstrophy
OrphaCode: 93930
DisorderType: Clinical subtype
Name: Gastroschisis
OrphaCode: 2368
DisorderType: Morphological anomaly
Name: Omphalomesenteric cyst
OrphaCode: 490
DisorderType: Morphological anomaly
Name: Syndromic diaphragmatic or abdominal wall malformation
OrphaCode: 108979
DisorderType: Category
Children: Name: Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
OrphaCode: 496693
DisorderType: Malformation syndrome
Name: Wolf-Hirschhorn syndrome
OrphaCode: 280
DisorderType: Malformation syndrome
Name: Cornelia de Lange syndrome
OrphaCode: 199
DisorderType: Malformation syndrome
Name: Trisomy 13
OrphaCode: 3378
DisorderType: Malformation syndrome
Name: Trisomy 18
OrphaCode: 3380
DisorderType: Malformation syndrome
Name: Tetrasomy 12p
OrphaCode: 884
DisorderType: Malformation syndrome
Name: Classical Ehlers-Danlos syndrome
OrphaCode: 287
DisorderType: Disease
Name: Simpson-Golabi-Behmel syndrome
OrphaCode: 373
DisorderType: Malformation syndrome
Name: Pentalogy of Cantrell
OrphaCode: 1335
DisorderType: Malformation syndrome
Name: Fryns syndrome
OrphaCode: 2059
DisorderType: Malformation syndrome
Name: Diaphragmatic defect-limb deficiency-skull defect syndrome
OrphaCode: 2141
DisorderType: Malformation syndrome
Name: Donnai-Barrow syndrome
OrphaCode: 2143
DisorderType: Malformation syndrome
Name: Kabuki syndrome
OrphaCode: 2322
DisorderType: Malformation syndrome
Name: Limb body wall complex
OrphaCode: 2369
DisorderType: Malformation syndrome
Name: Matthew-Wood syndrome
OrphaCode: 2470
DisorderType: Malformation syndrome
Name: Lethal omphalocele-cleft palate syndrome
OrphaCode: 2736
DisorderType: Malformation syndrome
Name: Pericardial and diaphragmatic defect
OrphaCode: 2847
DisorderType: Malformation syndrome
Name: Omphalocele syndrome, Shprintzen-Goldberg type
OrphaCode: 3164
DisorderType: Malformation syndrome
Name: Cutis laxa
OrphaCode: 209
DisorderType: Clinical group
Children: Name: Geroderma osteodysplastica
OrphaCode: 2078
DisorderType: Malformation syndrome
Name: De Barsy syndrome
OrphaCode: 2962
DisorderType: Disease
Children: Name: ALDH18A1-related De Barsy syndrome
OrphaCode: 35664
DisorderType: Etiological subtype
Name: PYCR1-related De Barsy syndrome
OrphaCode: 293633
DisorderType: Etiological subtype
Name: SCARF syndrome
OrphaCode: 3134
DisorderType: Malformation syndrome
Name: Arterial tortuosity syndrome
OrphaCode: 3342
DisorderType: Malformation syndrome
Name: Occipital horn syndrome
OrphaCode: 198
DisorderType: Disease
Name: Autosomal dominant cutis laxa
OrphaCode: 90348
DisorderType: Disease
Name: Autosomal recessive cutis laxa type 1
OrphaCode: 90349
DisorderType: Disease
Name: Autosomal recessive cutis laxa type 2
OrphaCode: 90350
DisorderType: Clinical group
Children: Name: Autosomal recessive cutis laxa type 2A
OrphaCode: 357058
DisorderType: Disease
Children: Name: Wrinkly skin syndrome
OrphaCode: 2834
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2, classic type
OrphaCode: 357074
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2B
OrphaCode: 357064
DisorderType: Disease
Name: RIN2 syndrome
OrphaCode: 217335
DisorderType: Malformation syndrome
Name: Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
OrphaCode: 221145
DisorderType: Malformation syndrome
Name: Craniofaciofrontodigital syndrome
OrphaCode: 363705
DisorderType: Disease
Name: Lethal arteriopathy syndrome due to fibulin-4 deficiency
OrphaCode: 314718
DisorderType: Disease
Name: Emanuel syndrome
OrphaCode: 96170
DisorderType: Malformation syndrome
Name: Classical-like Ehlers-Danlos syndrome type 1
OrphaCode: 230839
DisorderType: Disease
Name: Familial omphalocele syndrome with facial dysmorphism
OrphaCode: 280403
DisorderType: Malformation syndrome
Name: Spigelian hernia-cryptorchidism syndrome
OrphaCode: 314432
DisorderType: Malformation syndrome
Name: Lethal hydranencephaly-diaphragmatic hernia syndrome
OrphaCode: 480528
DisorderType: Malformation syndrome
Name: Diaphragmatic hernia-short bowel-asplenia syndrome
OrphaCode: 527468
DisorderType: Malformation syndrome
Name: Central nervous system malformation
OrphaCode: 98044
DisorderType: Category
Children: Name: Non-syndromic central nervous system malformation
OrphaCode: 108989
DisorderType: Category
Children: Name: Congenital hydrocephalus
OrphaCode: 2185
DisorderType: Malformation syndrome
Children: Name: Congenital communicating hydrocephalus
OrphaCode: 269505
DisorderType: Clinical subtype
Name: Congenital non-communicating hydrocephalus
OrphaCode: 269510
DisorderType: Clinical subtype
Name: Neural tube defect
OrphaCode: 3388
DisorderType: Category
Children: Name: Neural tube closure defect
OrphaCode: 268357
DisorderType: Category
Children: Name: Spina bifida and other spinal dysraphisms
OrphaCode: 823
DisorderType: Category
Children: Name: Open spinal dysraphism
OrphaCode: 268369
DisorderType: Clinical group
Children: Name: Open spinal dysraphism with a posterior meningocele
OrphaCode: 645270
DisorderType: Clinical group
Children: Name: Myelic limited dorsal malformation
OrphaCode: 645378
DisorderType: Morphological anomaly
Name: Open spinal dysraphism with a myelomeningocele
OrphaCode: 93969
DisorderType: Morphological anomaly
Children: Name: True myelomeningocele
OrphaCode: 645383
DisorderType: Clinical subtype
Name: Hemi-myelomeningocele
OrphaCode: 645388
DisorderType: Clinical subtype
Name: Myeloschisis
OrphaCode: 645398
DisorderType: Morphological anomaly
Children: Name: True myeloschisis
OrphaCode: 645401
DisorderType: Clinical subtype
Name: Hemi-myeloschisis
OrphaCode: 645393
DisorderType: Clinical subtype
Name: Spinal dysraphism with a posterior meningocele
OrphaCode: 268744
DisorderType: Clinical group
Children: Name: Isolated posterior meningocele
OrphaCode: 268810
DisorderType: Morphological anomaly
Name: Myelocystocele
OrphaCode: 268813
DisorderType: Clinical group
Children: Name: Terminal myelocystocele
OrphaCode: 645337
DisorderType: Morphological anomaly
Name: Non-terminal myelocystocele
OrphaCode: 645340
DisorderType: Morphological anomaly
Name: Saccular spinal dysraphism with a stalk to the dome
OrphaCode: 645319
DisorderType: Clinical group
Children: Name: Saccular limited dorsal myeloschisis
OrphaCode: 645354
DisorderType: Morphological anomaly
Name: Myelic limited dorsal malformation
OrphaCode: 645378
DisorderType: Morphological anomaly
Name: Terminal myelocystocele
OrphaCode: 645337
DisorderType: Morphological anomaly
Name: Open spinal dysraphism with a posterior meningocele
OrphaCode: 645270
DisorderType: Clinical group
Children: Name: Myelic limited dorsal malformation
OrphaCode: 645378
DisorderType: Morphological anomaly
Name: Open spinal dysraphism with a myelomeningocele
OrphaCode: 93969
DisorderType: Morphological anomaly
Children: Name: True myelomeningocele
OrphaCode: 645383
DisorderType: Clinical subtype
Name: Hemi-myelomeningocele
OrphaCode: 645388
DisorderType: Clinical subtype
Name: Closed spinal dysraphism
OrphaCode: 645202
DisorderType: Clinical group
Children: Name: Split cord malformation
OrphaCode: 573278
DisorderType: Clinical group
Children: Name: Split cord malformation type II
OrphaCode: 573253
DisorderType: Morphological anomaly
Name: Split cord malformation type I
OrphaCode: 1671
DisorderType: Morphological anomaly
Name: Split cord malformation, composite type
OrphaCode: 633076
DisorderType: Morphological anomaly
Name: Isolated posterior meningocele
OrphaCode: 268810
DisorderType: Morphological anomaly
Name: Myelocystocele
OrphaCode: 268813
DisorderType: Clinical group
Children: Name: Terminal myelocystocele
OrphaCode: 645337
DisorderType: Morphological anomaly
Name: Non-terminal myelocystocele
OrphaCode: 645340
DisorderType: Morphological anomaly
Name: Segmental spinal dysgenesis
OrphaCode: 656126
DisorderType: Disease
Name: Dysraphic spinal cord lipoma
OrphaCode: 645273
DisorderType: Clinical group
Children: Name: Dorsal spinal cord lipoma
OrphaCode: 645362
DisorderType: Morphological anomaly
Name: Conus spinal cord lipoma
OrphaCode: 645367
DisorderType: Clinical group
Children: Name: Chaotic conus spinal cord lipoma
OrphaCode: 645285
DisorderType: Morphological anomaly
Name: Extramedullary conus spinal cord lipoma
OrphaCode: 645297
DisorderType: Morphological anomaly
Children: Name: Transitional extramedullary conus spinal cord lipoma
OrphaCode: 645291
DisorderType: Clinical subtype
Name: Terminal extramedullary conus spinal cord lipoma
OrphaCode: 645288
DisorderType: Clinical subtype
Name: Posterior extramedullary conus spinal cord lipoma
OrphaCode: 645294
DisorderType: Clinical subtype
Name: Caudal regression syndrome
OrphaCode: 3027
DisorderType: Malformation syndrome
Name: Dysraphism with stalk
OrphaCode: 645193
DisorderType: Clinical group
Children: Name: Retained medullary cord
OrphaCode: 645334
DisorderType: Morphological anomaly
Name: Spinal dermal sinus
OrphaCode: 645188
DisorderType: Morphological anomaly
Name: Limited dorsal myeloschisis
OrphaCode: 645196
DisorderType: Clinical group
Children: Name: Non-saccular limited dorsal myeloschisis
OrphaCode: 645343
DisorderType: Morphological anomaly
Children: Name: Fibroneural non-saccular limited dorsal myeloschisis
OrphaCode: 645310
DisorderType: Histopathological subtype
Name: Lipomatous non-saccular limited dorsal myeloschisis
OrphaCode: 645300
DisorderType: Histopathological subtype
Name: Saccular spinal dysraphism with a stalk to the dome
OrphaCode: 645319
DisorderType: Clinical group
Children: Name: Saccular limited dorsal myeloschisis
OrphaCode: 645354
DisorderType: Morphological anomaly
Name: Myelic limited dorsal malformation
OrphaCode: 645378
DisorderType: Morphological anomaly
Name: Terminal myelocystocele
OrphaCode: 645337
DisorderType: Morphological anomaly
Name: Anomaly of the filum
OrphaCode: 645282
DisorderType: Clinical group
Children: Name: Fibrolipomatous filum anomaly
OrphaCode: 645279
DisorderType: Clinical group
Children: Name: Isolated filum lipoma
OrphaCode: 645325
DisorderType: Morphological anomaly
Name: Isolated transitional filum lipoma
OrphaCode: 645322
DisorderType: Morphological anomaly
Name: Retained medullary cord
OrphaCode: 645334
DisorderType: Morphological anomaly
Name: Spinal cord lipoma
OrphaCode: 645276
DisorderType: Clinical group
Children: Name: Intramedullary non-dysraphic spinal cord lipoma
OrphaCode: 645359
DisorderType: Morphological anomaly
Name: Dysraphic spinal cord lipoma
OrphaCode: 645273
DisorderType: Clinical group
Children: Name: Dorsal spinal cord lipoma
OrphaCode: 645362
DisorderType: Morphological anomaly
Name: Conus spinal cord lipoma
OrphaCode: 645367
DisorderType: Clinical group
Children: Name: Chaotic conus spinal cord lipoma
OrphaCode: 645285
DisorderType: Morphological anomaly
Name: Extramedullary conus spinal cord lipoma
OrphaCode: 645297
DisorderType: Morphological anomaly
Children: Name: Transitional extramedullary conus spinal cord lipoma
OrphaCode: 645291
DisorderType: Clinical subtype
Name: Terminal extramedullary conus spinal cord lipoma
OrphaCode: 645288
DisorderType: Clinical subtype
Name: Posterior extramedullary conus spinal cord lipoma
OrphaCode: 645294
DisorderType: Clinical subtype
Name: Malformation of the neurenteric canal, spinal cord and column
OrphaCode: 268843
DisorderType: Category
Children: Name: Craniorachischisis
OrphaCode: 63260
DisorderType: Morphological anomaly
Name: Isolated anencephaly/exencephaly
OrphaCode: 1048
DisorderType: Morphological anomaly
Children: Name: Isolated anencephaly
OrphaCode: 563609
DisorderType: Clinical subtype
Name: Isolated exencephaly
OrphaCode: 563612
DisorderType: Clinical subtype
Name: Iniencephaly
OrphaCode: 63259
DisorderType: Morphological anomaly
Children: Name: Open iniencephaly
OrphaCode: 268363
DisorderType: Clinical subtype
Name: Closed iniencephaly
OrphaCode: 268366
DisorderType: Clinical subtype
Name: Cephalocele
OrphaCode: 268817
DisorderType: Clinical group
Children: Name: Isolated encephalocele
OrphaCode: 199647
DisorderType: Morphological anomaly
Children: Name: Parietal encephalocele
OrphaCode: 268826
DisorderType: Clinical subtype
Name: Basal encephalocele
OrphaCode: 268829
DisorderType: Clinical subtype
Name: Frontal encephalocele
OrphaCode: 1931
DisorderType: Clinical subtype
Name: Nasal encephalocele
OrphaCode: 141118
DisorderType: Clinical subtype
Name: Occipital encephalocele
OrphaCode: 268823
DisorderType: Clinical subtype
Name: Cranial meningocele
OrphaCode: 268820
DisorderType: Morphological anomaly
Name: Split cord malformation
OrphaCode: 573278
DisorderType: Clinical group
Children: Name: Split cord malformation type II
OrphaCode: 573253
DisorderType: Morphological anomaly
Name: Split cord malformation type I
OrphaCode: 1671
DisorderType: Morphological anomaly
Name: Split cord malformation, composite type
OrphaCode: 633076
DisorderType: Morphological anomaly
Name: Segmental spinal dysgenesis
OrphaCode: 656126
DisorderType: Disease
Name: Caudal regression syndrome
OrphaCode: 3027
DisorderType: Malformation syndrome
Name: Lateral meningocele syndrome
OrphaCode: 2789
DisorderType: Malformation syndrome
Name: Primary syringomyelia
OrphaCode: 99856
DisorderType: Morphological anomaly
Children: Name: Idiopathic syringomyelia
OrphaCode: 99858
DisorderType: Clinical subtype
Name: Familial syringomyelia
OrphaCode: 370034
DisorderType: Clinical subtype
Name: Primary tethered cord syndrome
OrphaCode: 268861
DisorderType: Morphological anomaly
Name: Neurenteric cyst
OrphaCode: 268865
DisorderType: Morphological anomaly
Name: Isolated amyelia
OrphaCode: 268868
DisorderType: Morphological anomaly
Name: Arnold-Chiari malformation type I
OrphaCode: 268882
DisorderType: Morphological anomaly
Name: Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
OrphaCode: 397927
DisorderType: Malformation syndrome
Name: Cranial nerve and nuclear aplasia
OrphaCode: 98518
DisorderType: Category
Children: Name: Moebius syndrome
OrphaCode: 570
DisorderType: Disease
Name: Duane retraction syndrome
OrphaCode: 233
DisorderType: Malformation syndrome
Name: Isolated hereditary congenital facial paralysis
OrphaCode: 306527
DisorderType: Morphological anomaly
Name: Congenital hereditary facial paralysis-variable hearing loss syndrome
OrphaCode: 306530
DisorderType: Morphological anomaly
Name: Congenital achiasma
OrphaCode: 324353
DisorderType: Morphological anomaly
Name: Posterior fossa malformation
OrphaCode: 98519
DisorderType: Category
Children: Name: Non-syndromic pontocerebellar hypoplasia
OrphaCode: 98523
DisorderType: Clinical group
Children: Name: Pontocerebellar hypoplasia type 2
OrphaCode: 2524
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 1
OrphaCode: 2254
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 3
OrphaCode: 97249
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 4
OrphaCode: 166063
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 6
OrphaCode: 166073
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 7
OrphaCode: 284339
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 8
OrphaCode: 324569
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 9
OrphaCode: 369920
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 10
OrphaCode: 411493
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 12
OrphaCode: 611256
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 11
OrphaCode: 611247
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 13
OrphaCode: 613267
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 14
OrphaCode: 613274
DisorderType: Malformation syndrome
Name: Cerebellar malformation
OrphaCode: 182061
DisorderType: Category
Children: Name: Rhombencephalosynapsis
OrphaCode: 59315
DisorderType: Malformation syndrome
Name: Malformation of the cerebellar vermis
OrphaCode: 98514
DisorderType: Category
Children: Name: Joubert syndrome
OrphaCode: 475
DisorderType: Malformation syndrome
Name: Isolated cerebellar vermis hypoplasia
OrphaCode: 199630
DisorderType: Morphological anomaly
Name: Isolated cerebellar vermis agenesis
OrphaCode: 269203
DisorderType: Morphological anomaly
Children: Name: Isolated total cerebellar vermis agenesis
OrphaCode: 269206
DisorderType: Clinical subtype
Name: Isolated partial cerebellar vermis agenesis
OrphaCode: 269209
DisorderType: Clinical subtype
Name: Malformation of the cerebellar hemispheres
OrphaCode: 98516
DisorderType: Category
Children: Name: Isolated unilateral hemispheric cerebellar hypoplasia
OrphaCode: 269218
DisorderType: Morphological anomaly
Name: Isolated bilateral hemispheric cerebellar hypoplasia
OrphaCode: 269221
DisorderType: Morphological anomaly
Name: Global cerebellar malformation
OrphaCode: 269224
DisorderType: Category
Children: Name: Hydrocephaly-cerebellar agenesis syndrome
OrphaCode: 1397
DisorderType: Malformation syndrome
Name: Isolated cerebellar agenesis
OrphaCode: 1398
DisorderType: Morphological anomaly
Name: Pontine tegmental cap dysplasia
OrphaCode: 269229
DisorderType: Morphological anomaly
Name: Isolated Dandy-Walker malformation
OrphaCode: 217
DisorderType: Morphological anomaly
Children: Name: Isolated Dandy-Walker malformation with hydrocephalus
OrphaCode: 269212
DisorderType: Clinical subtype
Name: Isolated Dandy-Walker malformation without hydrocephalus
OrphaCode: 269215
DisorderType: Clinical subtype
Name: Mega-cisterna magna
OrphaCode: 97252
DisorderType: Morphological anomaly
Name: Blake pouch cyst
OrphaCode: 98922
DisorderType: Morphological anomaly
Name: Non-syndromic cerebral malformation
OrphaCode: 199633
DisorderType: Category
Children: Name: Sporadic fetal brain disruption sequence
OrphaCode: 1665
DisorderType: Malformation syndrome
Name: Megalencephaly
OrphaCode: 2477
DisorderType: Malformation syndrome
Children: Name: Isolated megalencephaly
OrphaCode: 268920
DisorderType: Clinical subtype
Name: Hemimegalencephaly
OrphaCode: 99802
DisorderType: Malformation syndrome
Name: Non-syndromic cerebral malformation due to abnormal neuronal migration
OrphaCode: 163209
DisorderType: Category
Children: Name: Nodular neuronal heterotopia
OrphaCode: 2149
DisorderType: Morphological anomaly
Children: Name: Periventricular nodular heterotopia
OrphaCode: 98892
DisorderType: Clinical subtype
Name: Sub-cortical nodular heterotopia
OrphaCode: 101029
DisorderType: Clinical subtype
Name: Subependymal nodular heterotopia
OrphaCode: 101030
DisorderType: Clinical subtype
Name: Polymicrogyria
OrphaCode: 35981
DisorderType: Clinical group
Children: Name: Bilateral polymicrogyria
OrphaCode: 268940
DisorderType: Morphological anomaly
Children: Name: Bilateral perisylvian polymicrogyria
OrphaCode: 98889
DisorderType: Clinical subtype
Name: Bilateral frontoparietal polymicrogyria
OrphaCode: 101070
DisorderType: Clinical subtype
Name: Bilateral parasagittal parieto-occipital polymicrogyria
OrphaCode: 208441
DisorderType: Clinical subtype
Name: Bilateral frontal polymicrogyria
OrphaCode: 208444
DisorderType: Clinical subtype
Name: Bilateral generalized polymicrogyria
OrphaCode: 208447
DisorderType: Clinical subtype
Name: Unilateral polymicrogyria
OrphaCode: 268943
DisorderType: Morphological anomaly
Children: Name: Unilateral hemispheric polymicrogyria
OrphaCode: 101071
DisorderType: Clinical subtype
Name: Unilateral focal polymicrogyria
OrphaCode: 268947
DisorderType: Clinical subtype
Name: Subcortical band heterotopia
OrphaCode: 99796
DisorderType: Morphological anomaly
Name: Cerebral cortical dysplasia
OrphaCode: 268950
DisorderType: Clinical group
Children: Name: Isolated focal cortical dysplasia
OrphaCode: 65683
DisorderType: Disease
Children: Name: Isolated focal cortical dysplasia type I
OrphaCode: 268961
DisorderType: Clinical subtype
Children: Name: Isolated focal cortical dysplasia type Ia
OrphaCode: 268973
DisorderType: Histopathological subtype
Name: Isolated focal cortical dysplasia type Ib
OrphaCode: 268980
DisorderType: Histopathological subtype
Name: Isolated focal cortical dysplasia type Ic
OrphaCode: 268987
DisorderType: Histopathological subtype
Name: Isolated focal cortical dysplasia type II
OrphaCode: 268994
DisorderType: Clinical subtype
Children: Name: Isolated focal cortical dysplasia type IIa
OrphaCode: 269001
DisorderType: Histopathological subtype
Name: Isolated focal cortical dysplasia type IIb
OrphaCode: 269008
DisorderType: Histopathological subtype
Name: Occipital pachygyria and polymicrogyria
OrphaCode: 280640
DisorderType: Malformation syndrome
Name: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
OrphaCode: 300570
DisorderType: Disease
Name: Autosomal recessive frontotemporal pachygyria
OrphaCode: 329329
DisorderType: Malformation syndrome
Name: Pachygyria-intellectual disability-epilepsy syndrome
OrphaCode: 2798
DisorderType: Malformation syndrome
Name: Isolated congenital microcephaly
OrphaCode: 199642
DisorderType: Malformation syndrome
Children: Name: Autosomal recessive primary microcephaly
OrphaCode: 2512
DisorderType: Etiological subtype
Name: Autosomal dominant primary microcephaly
OrphaCode: 2514
DisorderType: Etiological subtype
Name: Midline cerebral malformation
OrphaCode: 268926
DisorderType: Category
Children: Name: Holoprosencephaly
OrphaCode: 2162
DisorderType: Malformation syndrome
Children: Name: Lobar holoprosencephaly
OrphaCode: 93924
DisorderType: Clinical subtype
Name: Alobar holoprosencephaly
OrphaCode: 93925
DisorderType: Clinical subtype
Name: Midline interhemispheric variant of holoprosencephaly
OrphaCode: 93926
DisorderType: Clinical subtype
Name: Semilobar holoprosencephaly
OrphaCode: 220386
DisorderType: Clinical subtype
Name: Septopreoptic holoprosencephaly
OrphaCode: 280195
DisorderType: Clinical subtype
Name: Aprosencephaly cerebellar dysgenesis
OrphaCode: 1126
DisorderType: Malformation syndrome
Name: Duplication of the pituitary gland
OrphaCode: 314621
DisorderType: Morphological anomaly
Name: Microform holoprosencephaly
OrphaCode: 280200
DisorderType: Malformation syndrome
Name: Aprosencephaly/atelencephaly spectrum
OrphaCode: 566847
DisorderType: Morphological anomaly
Children: Name: Atelencephaly
OrphaCode: 566852
DisorderType: Clinical subtype
Name: Aprosencephaly
OrphaCode: 566857
DisorderType: Clinical subtype
Name: Isolated arhinencephaly
OrphaCode: 268936
DisorderType: Morphological anomaly
Name: Encephaloclastic disorder
OrphaCode: 269190
DisorderType: Clinical group
Children: Name: Schizencephaly
OrphaCode: 799
DisorderType: Disease
Children: Name: Acquired schizencephaly
OrphaCode: 485275
DisorderType: Etiological subtype
Name: Familial schizencephaly
OrphaCode: 481986
DisorderType: Etiological subtype
Name: Hydranencephaly
OrphaCode: 2177
DisorderType: Malformation syndrome
Name: Porencephaly
OrphaCode: 2940
DisorderType: Disease
Children: Name: Familial porencephaly
OrphaCode: 99810
DisorderType: Etiological subtype
Name: Acquired porencephaly
OrphaCode: 314697
DisorderType: Etiological subtype
Name: Diencephalic-mesencephalic junction dysplasia
OrphaCode: 319192
DisorderType: Morphological anomaly
Name: Isolated corpus callosum agenesis
OrphaCode: 200
DisorderType: Morphological anomaly
Name: Central nervous system cystic malformation
OrphaCode: 269194
DisorderType: Category
Children: Name: Arachnoid cyst
OrphaCode: 2356
DisorderType: Morphological anomaly
Name: Glioependymal/ependymal cyst
OrphaCode: 269197
DisorderType: Morphological anomaly
Name: Dermoid or epidermoid cyst of the central nervous system
OrphaCode: 530033
DisorderType: Morphological anomaly
Name: Syndrome with a central nervous system malformation as a major feature
OrphaCode: 108991
DisorderType: Category
Children: Name: Lissencephaly
OrphaCode: 48471
DisorderType: Category
Children: Name: Microlissencephaly
OrphaCode: 1083
DisorderType: Morphological anomaly
Children: Name: Lissencephaly syndrome, Norman-Roberts type
OrphaCode: 89844
DisorderType: Clinical subtype
Name: Cobblestone lissencephaly
OrphaCode: 51577
DisorderType: Clinical group
Children: Name: Cobblestone lissencephaly without muscular or ocular involvement
OrphaCode: 352682
DisorderType: Disease
Name: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
OrphaCode: 352687
DisorderType: Clinical group
Children: Name: Congenital muscular dystrophy, Fukuyama type
OrphaCode: 272
DisorderType: Malformation syndrome
Name: Walker-Warburg syndrome
OrphaCode: 899
DisorderType: Disease
Name: Muscle-eye-brain disease
OrphaCode: 588
DisorderType: Malformation syndrome
Name: Muscle-eye-brain disease with bilateral multicystic leucodystrophy
OrphaCode: 370997
DisorderType: Disease
Name: Lissencephaly with cerebellar hypoplasia
OrphaCode: 86823
DisorderType: Clinical group
Children: Name: Lissencephaly with cerebellar hypoplasia type A
OrphaCode: 100011
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type B
OrphaCode: 100012
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type C
OrphaCode: 100013
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type D
OrphaCode: 100014
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type E
OrphaCode: 100015
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type F
OrphaCode: 100016
DisorderType: Malformation syndrome
Name: Classic lissencephaly
OrphaCode: 102009
DisorderType: Clinical group
Children: Name: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
OrphaCode: 572013
DisorderType: Malformation syndrome
Name: Lissencephaly type 1 due to doublecortin gene mutation
OrphaCode: 2148
DisorderType: Disease
Name: Miller-Dieker syndrome
OrphaCode: 531
DisorderType: Malformation syndrome
Name: Isolated lissencephaly type 1 without known genetic defects
OrphaCode: 1084
DisorderType: Disease
Name: Lissencephaly due to LIS1 mutation
OrphaCode: 95232
DisorderType: Disease
Name: Other syndrome with lissencephaly as a major feature
OrphaCode: 102010
DisorderType: Category
Children: Name: Craniotelencephalic dysplasia
OrphaCode: 1528
DisorderType: Malformation syndrome
Name: Micro syndrome
OrphaCode: 2510
DisorderType: Malformation syndrome
Name: Baraitser-Winter cerebrofrontofacial syndrome
OrphaCode: 2995
DisorderType: Malformation syndrome
Name: X-linked lissencephaly with abnormal genitalia
OrphaCode: 452
DisorderType: Malformation syndrome
Name: Lissencephaly type 3
OrphaCode: 102011
DisorderType: Clinical group
Children: Name: Neu-Laxova syndrome
OrphaCode: 2671
DisorderType: Malformation syndrome
Children: Name: Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
OrphaCode: 583607
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
OrphaCode: 583612
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
OrphaCode: 583602
DisorderType: Etiological subtype
Name: Lissencephaly type 3-familial fetal akinesia sequence syndrome
OrphaCode: 86821
DisorderType: Malformation syndrome
Name: Lissencephaly type 3-metacarpal bone dysplasia syndrome
OrphaCode: 86822
DisorderType: Malformation syndrome
Name: Lissencephaly due to TUBA1A mutation
OrphaCode: 171680
DisorderType: Malformation syndrome
Name: Syndrome with corpus callosum agenesis/dysgenesis as a major feature
OrphaCode: 199639
DisorderType: Category
Children: Name: Microlissencephaly
OrphaCode: 1083
DisorderType: Morphological anomaly
Children: Name: Lissencephaly syndrome, Norman-Roberts type
OrphaCode: 89844
DisorderType: Clinical subtype
Name: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
OrphaCode: 83473
DisorderType: Malformation syndrome
Name: Aicardi syndrome
OrphaCode: 50
DisorderType: Disease
Name: Acrocallosal syndrome
OrphaCode: 36
DisorderType: Malformation syndrome
Name: Corpus callosum agenesis-neuronopathy syndrome
OrphaCode: 1496
DisorderType: Disease
Name: Vici syndrome
OrphaCode: 1493
DisorderType: Malformation syndrome
Name: Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
OrphaCode: 1495
DisorderType: Malformation syndrome
Name: Curry-Jones syndrome
OrphaCode: 1553
DisorderType: Malformation syndrome
Name: Temtamy syndrome
OrphaCode: 1777
DisorderType: Malformation syndrome
Name: Toriello-Carey syndrome
OrphaCode: 3338
DisorderType: Malformation syndrome
Name: Micro syndrome
OrphaCode: 2510
DisorderType: Malformation syndrome
Name: White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
OrphaCode: 3207
DisorderType: Malformation syndrome
Name: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
OrphaCode: 52055
DisorderType: Malformation syndrome
Name: Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
OrphaCode: 171703
DisorderType: Malformation syndrome
Name: L1 syndrome
OrphaCode: 275543
DisorderType: Malformation syndrome
Children: Name: Hydrocephalus with stenosis of the aqueduct of Sylvius
OrphaCode: 2182
DisorderType: Clinical subtype
Name: MASA syndrome
OrphaCode: 2466
DisorderType: Clinical subtype
Name: X-linked complicated corpus callosum dysgenesis
OrphaCode: 1497
DisorderType: Clinical subtype
Name: X-linked complicated spastic paraplegia type 1
OrphaCode: 306617
DisorderType: Clinical subtype
Name: ARX-related encephalopathy-brain malformation spectrum
OrphaCode: 423655
DisorderType: Clinical group
Children: Name: Corpus callosum agenesis-abnormal genitalia syndrome
OrphaCode: 2508
DisorderType: Malformation syndrome
Name: X-linked lissencephaly with abnormal genitalia
OrphaCode: 452
DisorderType: Malformation syndrome
Name: Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
OrphaCode: 459074
DisorderType: Malformation syndrome
Name: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
OrphaCode: 466688
DisorderType: Malformation syndrome
Name: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
OrphaCode: 457284
DisorderType: Malformation syndrome
Name: Tubulinopathy-associated dysgyria
OrphaCode: 467166
DisorderType: Disease
Name: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
OrphaCode: 500159
DisorderType: Malformation syndrome
Name: Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
OrphaCode: 447893
DisorderType: Clinical subtype
Name: Syndrome with a cerebellar malformation as a major feature
OrphaCode: 269523
DisorderType: Category
Children: Name: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
OrphaCode: 459070
DisorderType: Malformation syndrome
Name: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
OrphaCode: 466688
DisorderType: Malformation syndrome
Name: SLC39A8-CDG
OrphaCode: 468699
DisorderType: Disease
Name: Chudley-McCullough syndrome
OrphaCode: 314597
DisorderType: Malformation syndrome
Name: Vici syndrome
OrphaCode: 1493
DisorderType: Malformation syndrome
Name: NDE1-related microhydranencephaly
OrphaCode: 443162
DisorderType: Malformation syndrome
Name: Joubert syndrome with oculorenal defect
OrphaCode: 2318
DisorderType: Malformation syndrome
Name: Joubert syndrome with hepatic defect
OrphaCode: 1454
DisorderType: Disease
Name: Gómez-López-Hernández syndrome
OrphaCode: 1532
DisorderType: Malformation syndrome
Name: Cerebellar hypoplasia-tapetoretinal degeneration syndrome
OrphaCode: 2246
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Porencephaly-cerebellar hypoplasia-internal malformations syndrome
OrphaCode: 2941
DisorderType: Malformation syndrome
Name: Hoyeraal-Hreidarsson syndrome
OrphaCode: 3322
DisorderType: Disease
Name: XK aprosencephaly syndrome
OrphaCode: 3469
DisorderType: Malformation syndrome
Name: PHACE syndrome
OrphaCode: 42775
DisorderType: Malformation syndrome
Name: Lhermitte-Duclos disease
OrphaCode: 65285
DisorderType: Disease
Name: Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
OrphaCode: 65288
DisorderType: Malformation syndrome
Name: Endosteal sclerosis-cerebellar hypoplasia syndrome
OrphaCode: 85186
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-cerebellar hypoplasia syndrome
OrphaCode: 137831
DisorderType: Disease
Name: X-linked intellectual disability, Najm type
OrphaCode: 163937
DisorderType: Disease
Name: X-linked cerebral-cerebellar-coloboma syndrome
OrphaCode: 163961
DisorderType: Disease
Name: Joubert syndrome with ocular defect
OrphaCode: 220493
DisorderType: Malformation syndrome
Name: Joubert syndrome with renal defect
OrphaCode: 220497
DisorderType: Malformation syndrome
Name: Syndrome with a Dandy-Walker malformation as a major feature
OrphaCode: 269546
DisorderType: Category
Children: Name: Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
OrphaCode: 1538
DisorderType: Malformation syndrome
Name: 3C syndrome
OrphaCode: 7
DisorderType: Malformation syndrome
Name: Aase-Smith syndrome
OrphaCode: 916
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
OrphaCode: 1568
DisorderType: Malformation syndrome
Name: Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
OrphaCode: 1970
DisorderType: Malformation syndrome
Name: Cervical hypertrichosis-peripheral neuropathy syndrome
OrphaCode: 2218
DisorderType: Disease
Name: NPHP3-related Meckel-like syndrome
OrphaCode: 3032
DisorderType: Malformation syndrome
Name: Macrocephaly-short stature-paraplegia syndrome
OrphaCode: 2427
DisorderType: Malformation syndrome
Name: Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
OrphaCode: 73245
DisorderType: Malformation syndrome
Name: B4GALT1-CDG
OrphaCode: 79332
DisorderType: Disease
Name: Dandy-Walker malformation-postaxial polydactyly syndrome
OrphaCode: 1566
DisorderType: Malformation syndrome
Name: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
OrphaCode: 370022
DisorderType: Disease
Name: Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
OrphaCode: 397709
DisorderType: Malformation syndrome
Name: Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
OrphaCode: 401959
DisorderType: Malformation syndrome
Name: Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
OrphaCode: 439897
DisorderType: Malformation syndrome
Name: Cerebellar-facial-dental syndrome
OrphaCode: 444072
DisorderType: Malformation syndrome
Name: Polymicrogyria due to TUBB2B mutation
OrphaCode: 300573
DisorderType: Malformation syndrome
Name: Tubulinopathy-associated dysgyria
OrphaCode: 467166
DisorderType: Disease
Name: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
OrphaCode: 480898
DisorderType: Disease
Name: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
OrphaCode: 495875
DisorderType: Malformation syndrome
Name: Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
OrphaCode: 529665
DisorderType: Malformation syndrome
Name: Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
OrphaCode: 2703
DisorderType: Malformation syndrome
Name: Lethal brain and heart developmental defects
OrphaCode: 580933
DisorderType: Malformation syndrome
Name: EN1-related dorsoventral syndrome
OrphaCode: 611223
DisorderType: Malformation syndrome
Name: Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome
OrphaCode: 615954
DisorderType: Clinical syndrome
Children: Name: Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation
OrphaCode: 615983
DisorderType: Etiological subtype
Name: Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster
OrphaCode: 615986
DisorderType: Etiological subtype
Name: Syndrome with microcephaly as a major feature
OrphaCode: 269528
DisorderType: Category
Children: Name: SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
OrphaCode: 597743
DisorderType: Malformation syndrome
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome plus
OrphaCode: 572333
DisorderType: Malformation syndrome
Name: PYCR2-related microcephaly-progressive leukoencephalopathy
OrphaCode: 481152
DisorderType: Malformation syndrome
Name: Micro syndrome
OrphaCode: 2510
DisorderType: Malformation syndrome
Name: Bowen-Conradi syndrome
OrphaCode: 1270
DisorderType: Malformation syndrome
Name: Microcephaly-cardiomyopathy syndrome
OrphaCode: 2515
DisorderType: Malformation syndrome
Name: Microcephaly-cervical spine fusion anomalies syndrome
OrphaCode: 2522
DisorderType: Malformation syndrome
Name: Microcephaly-brain defect-spasticity-hypernatremia syndrome
OrphaCode: 2523
DisorderType: Malformation syndrome
Name: Microcephaly-lymphedema-chorioretinopathy syndrome
OrphaCode: 2526
DisorderType: Malformation syndrome
Name: Microcephaly-microcornea syndrome, Seemanova type
OrphaCode: 2528
DisorderType: Malformation syndrome
Name: Amish lethal microcephaly
OrphaCode: 99742
DisorderType: Malformation syndrome
Name: Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
OrphaCode: 293967
DisorderType: Malformation syndrome
Name: Microcephaly-capillary malformation syndrome
OrphaCode: 294016
DisorderType: Malformation syndrome
Name: Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
OrphaCode: 306558
DisorderType: Disease
Name: Jawad syndrome
OrphaCode: 313795
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism
OrphaCode: 324761
DisorderType: Clinical group
Children: Name: Seckel syndrome
OrphaCode: 808
DisorderType: Malformation syndrome
Name: Ear-patella-short stature syndrome
OrphaCode: 2554
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism, Toriello type
OrphaCode: 2643
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic primordial dwarfism types I and III
OrphaCode: 2636
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic primordial dwarfism type II
OrphaCode: 2637
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic dysplasia, Saul-Wilson type
OrphaCode: 85172
DisorderType: Disease
Name: Alazami syndrome
OrphaCode: 319671
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism, Dauber type
OrphaCode: 319675
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism due to ZNF335 deficiency
OrphaCode: 329228
DisorderType: Malformation syndrome
Name: Microcephalic cortical malformations-short stature due to RTTN deficiency
OrphaCode: 468631
DisorderType: Malformation syndrome
Name: DNMT3A-related microcephalic dwarfism
OrphaCode: 658595
DisorderType: Malformation syndrome
Name: DONSON-related microcephaly-short stature-limb abnormalities spectrum
OrphaCode: 572761
DisorderType: Malformation syndrome
Children: Name: Microcephaly-micromelia syndrome
OrphaCode: 572768
DisorderType: Clinical subtype
Name: Microcephaly-short stature-limb abnormalities syndrome
OrphaCode: 572773
DisorderType: Clinical subtype
Name: Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
OrphaCode: 329332
DisorderType: Malformation syndrome
Name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
OrphaCode: 391408
DisorderType: Disease
Name: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
OrphaCode: 402364
DisorderType: Malformation syndrome
Name: Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
OrphaCode: 404437
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 14
OrphaCode: 434179
DisorderType: Malformation syndrome
Name: Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
OrphaCode: 439897
DisorderType: Malformation syndrome
Name: NDE1-related microhydranencephaly
OrphaCode: 443162
DisorderType: Malformation syndrome
Name: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
OrphaCode: 477814
DisorderType: Malformation syndrome
Name: Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome
OrphaCode: 662762
DisorderType: Malformation syndrome
Name: Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome
OrphaCode: 662179
DisorderType: Malformation syndrome
Name: Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome
OrphaCode: 664923
DisorderType: Disease
Name: Rauch-Steindl syndrome
OrphaCode: 659642
DisorderType: Clinical subtype
Name: Intellectual disability-early-onset cataract-microcephaly syndrome
OrphaCode: 633035
DisorderType: Malformation syndrome
Name: Other syndrome with a central nervous system malformation as a major feature
OrphaCode: 269531
DisorderType: Category
Children: Name: Duane retraction syndrome with congenital deafness
OrphaCode: 529574
DisorderType: Malformation syndrome
Name: NDE1-related microhydranencephaly
OrphaCode: 443162
DisorderType: Malformation syndrome
Name: Lethal hydranencephaly-diaphragmatic hernia syndrome
OrphaCode: 480528
DisorderType: Malformation syndrome
Name: Polymicrogyria due to TUBB2B mutation
OrphaCode: 300573
DisorderType: Malformation syndrome
Name: FG syndrome type 1
OrphaCode: 93932
DisorderType: Disease
Name: Meckel syndrome
OrphaCode: 564
DisorderType: Malformation syndrome
Name: Horizontal gaze palsy with progressive scoliosis
OrphaCode: 2744
DisorderType: Disease
Name: Spina bifida-hypospadias syndrome
OrphaCode: 3176
DisorderType: Malformation syndrome
Name: Oculocerebrocutaneous syndrome
OrphaCode: 1647
DisorderType: Malformation syndrome
Name: Caudal duplication
OrphaCode: 1756
DisorderType: Malformation syndrome
Name: Galloway-Mowat syndrome
OrphaCode: 2065
DisorderType: Malformation syndrome
Name: Hydrocephaly-low insertion umbilicus syndrome
OrphaCode: 2184
DisorderType: Malformation syndrome
Name: Holoprosencephaly-craniosynostosis syndrome
OrphaCode: 2163
DisorderType: Malformation syndrome
Name: Holoprosencephaly-caudal dysgenesis syndrome
OrphaCode: 2165
DisorderType: Malformation syndrome
Name: Hydrolethalus
OrphaCode: 2189
DisorderType: Malformation syndrome
Name: Kousseff syndrome
OrphaCode: 2351
DisorderType: Malformation syndrome
Name: Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
OrphaCode: 2570
DisorderType: Malformation syndrome
Name: Septo-optic dysplasia spectrum
OrphaCode: 3157
DisorderType: Malformation syndrome
Name: Familial caudal dysgenesis
OrphaCode: 1768
DisorderType: Malformation syndrome
Name: Schisis association
OrphaCode: 63862
DisorderType: Malformation syndrome
Name: Cerebrooculonasal syndrome
OrphaCode: 66625
DisorderType: Malformation syndrome
Name: LUMBAR syndrome
OrphaCode: 83628
DisorderType: Malformation syndrome
Name: Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
OrphaCode: 171839
DisorderType: Malformation syndrome
Name: Macrocephaly-intellectual disability-autism syndrome
OrphaCode: 210548
DisorderType: Disease
Name: Fowler vasculopathy
OrphaCode: 221126
DisorderType: Malformation syndrome
Name: Progressive cerebello-cerebral atrophy
OrphaCode: 247198
DisorderType: Disease
Name: Polymicrogyria with optic nerve hypoplasia
OrphaCode: 250972
DisorderType: Malformation syndrome
Name: CK syndrome
OrphaCode: 251383
DisorderType: Malformation syndrome
Name: Porencephaly-microcephaly-bilateral congenital cataract syndrome
OrphaCode: 306547
DisorderType: Malformation syndrome
Name: Chudley-McCullough syndrome
OrphaCode: 314597
DisorderType: Malformation syndrome
Name: Cataract-congenital heart disease-neural tube defect syndrome
OrphaCode: 314993
DisorderType: Malformation syndrome
Name: SLC35A2-CDG
OrphaCode: 356961
DisorderType: Disease
Name: Ventriculomegaly-cystic kidney disease
OrphaCode: 443988
DisorderType: Disease
Name: Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
OrphaCode: 444069
DisorderType: Malformation syndrome
Name: Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
OrphaCode: 500135
DisorderType: Malformation syndrome
Name: Hartsfield syndrome
OrphaCode: 2117
DisorderType: Malformation syndrome
Name: Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
OrphaCode: 500144
DisorderType: Malformation syndrome
Name: Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
OrphaCode: 500150
DisorderType: Malformation syndrome
Name: Pancreatic agenesis-holoprosencephaly syndrome
OrphaCode: 556955
DisorderType: Disease
Name: Thoracic dysplasia-hydrocephalus syndrome
OrphaCode: 1861
DisorderType: Malformation syndrome
Name: PRUNE1-related neurological syndrome
OrphaCode: 544469
DisorderType: Malformation syndrome
Name: TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
OrphaCode: 592570
DisorderType: Malformation syndrome
Name: KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome
OrphaCode: 610569
DisorderType: Disease
Name: Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome
OrphaCode: 664410
DisorderType: Malformation syndrome
Children: Name: 5q14.3 microdeletion syndrome
OrphaCode: 228384
DisorderType: Etiological subtype
Name: Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation
OrphaCode: 664416
DisorderType: Etiological subtype
Name: Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome
OrphaCode: 662189
DisorderType: Malformation syndrome
Name: Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome
OrphaCode: 662207
DisorderType: Malformation syndrome
Name: Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome
OrphaCode: 659609
DisorderType: Disease
Name: Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
OrphaCode: 603448
DisorderType: Malformation syndrome
Name: Respiratory or mediastinal malformation
OrphaCode: 98045
DisorderType: Category
Children: Name: Non-syndromic respiratory or mediastinal malformation
OrphaCode: 108993
DisorderType: Category
Children: Name: Congenital pulmonary lymphangiectasia
OrphaCode: 2414
DisorderType: Disease
Name: Congenital pulmonary airway malformation
OrphaCode: 2444
DisorderType: Malformation syndrome
Children: Name: Congenital pulmonary airway malformation type 0
OrphaCode: 280827
DisorderType: Clinical subtype
Name: Congenital pulmonary airway malformation type 1
OrphaCode: 280832
DisorderType: Clinical subtype
Name: Congenital pulmonary airway malformation type 2
OrphaCode: 280840
DisorderType: Clinical subtype
Name: Congenital pulmonary airway malformation type 3
OrphaCode: 280847
DisorderType: Clinical subtype
Name: Congenital pulmonary airway malformation type 4
OrphaCode: 280854
DisorderType: Clinical subtype
Name: Tracheal agenesis
OrphaCode: 3346
DisorderType: Morphological anomaly
Name: Pulmonary agenesis
OrphaCode: 984
DisorderType: Morphological anomaly
Name: Congenital respiratory-biliary fistula
OrphaCode: 2040
DisorderType: Morphological anomaly
Name: Congenital lobar emphysema
OrphaCode: 1928
DisorderType: Morphological anomaly
Name: Laryngotracheoesophageal cleft
OrphaCode: 2004
DisorderType: Morphological anomaly
Children: Name: Laryngotracheoesophageal cleft type 1
OrphaCode: 93938
DisorderType: Clinical subtype
Name: Laryngotracheoesophageal cleft type 2
OrphaCode: 93939
DisorderType: Clinical subtype
Name: Laryngotracheoesophageal cleft type 3
OrphaCode: 93940
DisorderType: Clinical subtype
Name: Laryngotracheoesophageal cleft type 4
OrphaCode: 93941
DisorderType: Clinical subtype
Name: Laryngotracheoesophageal cleft type 0
OrphaCode: 280205
DisorderType: Clinical subtype
Name: Primary pulmonary hypoplasia
OrphaCode: 2257
DisorderType: Morphological anomaly
Name: Pulmonary arteriovenous malformation
OrphaCode: 2038
DisorderType: Morphological anomaly
Name: Congenital pulmonary sequestration
OrphaCode: 3161
DisorderType: Malformation syndrome
Children: Name: Intralobar congenital pulmonary sequestration
OrphaCode: 280802
DisorderType: Clinical subtype
Name: Extralobar congenital pulmonary sequestration
OrphaCode: 280811
DisorderType: Clinical subtype
Name: Communicating congenital bronchopulmonary-foregut malformation
OrphaCode: 280821
DisorderType: Clinical subtype
Name: Bronchopulmonary dysplasia
OrphaCode: 70589
DisorderType: Malformation syndrome
Name: Congenital tracheomalacia
OrphaCode: 95430
DisorderType: Morphological anomaly
Name: Williams-Campbell syndrome
OrphaCode: 411501
DisorderType: Morphological anomaly
Name: Bronchial malformation
OrphaCode: 649014
DisorderType: Clinical group
Children: Name: Non-syndromic bridging bronchus
OrphaCode: 648992
DisorderType: Morphological anomaly
Name: Non-syndromic congenital bronchial atresia
OrphaCode: 649010
DisorderType: Morphological anomaly
Name: Isolated left bronchial isomerism
OrphaCode: 649029
DisorderType: Morphological anomaly
Name: Bronchogenic cyst
OrphaCode: 2357
DisorderType: Morphological anomaly
Name: Isolated tracheoesophageal fistula
OrphaCode: 454750
DisorderType: Morphological anomaly
Name: Syndromic respiratory or mediastinal malformation
OrphaCode: 108995
DisorderType: Category
Children: Name: Fetal akinesia deformation sequence
OrphaCode: 994
DisorderType: Malformation syndrome
Name: Lung agenesis-heart defect-thumb anomalies syndrome
OrphaCode: 1120
DisorderType: Malformation syndrome
Name: Lethal congenital contracture syndrome type 1
OrphaCode: 1486
DisorderType: Malformation syndrome
Name: Laryngo-onycho-cutaneous syndrome
OrphaCode: 2407
DisorderType: Disease
Name: Matthew-Wood syndrome
OrphaCode: 2470
DisorderType: Malformation syndrome
Name: Growth delay-hydrocephaly-lung hypoplasia syndrome
OrphaCode: 3035
DisorderType: Malformation syndrome
Name: Opitz GBBB syndrome
OrphaCode: 2745
DisorderType: Malformation syndrome
Name: Aortic arch defects
OrphaCode: 1132
DisorderType: Category
Children: Name: Encircling double aortic arch
OrphaCode: 99075
DisorderType: Morphological anomaly
Name: Persistent fifth aortic arch
OrphaCode: 99076
DisorderType: Morphological anomaly
Name: Kommerell diverticulum
OrphaCode: 99077
DisorderType: Morphological anomaly
Name: Neuhauser anomaly
OrphaCode: 99078
DisorderType: Morphological anomaly
Name: Cervical aortic arch
OrphaCode: 99079
DisorderType: Morphological anomaly
Name: Right aortic arch
OrphaCode: 99081
DisorderType: Morphological anomaly
Name: Dysphagia lusoria
OrphaCode: 99082
DisorderType: Morphological anomaly
Name: Malformation syndrome with hamartosis
OrphaCode: 98196
DisorderType: Category
Children: Name: Von Hippel-Lindau disease
OrphaCode: 892
DisorderType: Disease
Name: Gorlin syndrome
OrphaCode: 377
DisorderType: Malformation syndrome
Name: Peutz-Jeghers syndrome
OrphaCode: 2869
DisorderType: Disease
Name: Hereditary hemorrhagic telangiectasia
OrphaCode: 774
DisorderType: Disease
Name: Dyskeratosis congenita
OrphaCode: 1775
DisorderType: Disease
Name: Angioosteohypertrophic syndrome
OrphaCode: 2346
DisorderType: Clinical group
Children: Name: Parkes Weber syndrome
OrphaCode: 90307
DisorderType: Disease
Name: Klippel-Trénaunay syndrome
OrphaCode: 90308
DisorderType: Disease
Name: Linear nevus sebaceus syndrome
OrphaCode: 2612
DisorderType: Disease
Name: Sturge-Weber syndrome
OrphaCode: 3205
DisorderType: Malformation syndrome
Name: Tuberous sclerosis complex
OrphaCode: 805
DisorderType: Disease
Name: Neurofibromatosis-Noonan syndrome
OrphaCode: 638
DisorderType: Malformation syndrome
Name: Noonan syndrome with multiple lentigines
OrphaCode: 500
DisorderType: Malformation syndrome
Name: Hereditary neurocutaneous malformation
OrphaCode: 1062
DisorderType: Disease
Name: Focal dermal hypoplasia
OrphaCode: 2092
DisorderType: Malformation syndrome
Name: Ollier disease
OrphaCode: 296
DisorderType: Disease
Name: Phakomatosis pigmentokeratotica
OrphaCode: 2874
DisorderType: Malformation syndrome
Name: Phakomatosis pigmentovascularis
OrphaCode: 2875
DisorderType: Disease
Children: Name: Phakomatosis cesioflammea
OrphaCode: 79483
DisorderType: Clinical subtype
Name: Phakomatosis cesiomarmorata
OrphaCode: 79484
DisorderType: Clinical subtype
Name: Phakomatosis spilorosea
OrphaCode: 79485
DisorderType: Clinical subtype
Name: Becker nevus syndrome
OrphaCode: 64755
DisorderType: Disease
Name: Gardner syndrome
OrphaCode: 79665
DisorderType: Clinical subtype
Name: Full schwannomatosis
OrphaCode: 93921
DisorderType: Disease
Name: Maffucci syndrome
OrphaCode: 163634
DisorderType: Disease
Name: Hemihyperplasia-multiple lipomatosis syndrome
OrphaCode: 276280
DisorderType: Malformation syndrome
Name: PTEN hamartoma tumor syndrome
OrphaCode: 306498
DisorderType: Clinical group
Children: Name: Lhermitte-Duclos disease
OrphaCode: 65285
DisorderType: Disease
Name: Cowden syndrome
OrphaCode: 201
DisorderType: Disease
Name: Bannayan-Riley-Ruvalcaba syndrome
OrphaCode: 109
DisorderType: Malformation syndrome
Name: Proteus-like syndrome
OrphaCode: 2969
DisorderType: Disease
Name: Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
OrphaCode: 137608
DisorderType: Malformation syndrome
Name: Developmental defect of the eye
OrphaCode: 98553
DisorderType: Category
Children: Name: Congenital primary aphakia
OrphaCode: 83461
DisorderType: Malformation syndrome
Name: Syndromic optic nerve hypoplasia
OrphaCode: 137905
DisorderType: Category
Children: Name: Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
OrphaCode: 603494
DisorderType: Malformation syndrome
Name: Septo-optic dysplasia spectrum
OrphaCode: 3157
DisorderType: Malformation syndrome
Name: Polymicrogyria with optic nerve hypoplasia
OrphaCode: 250972
DisorderType: Malformation syndrome
Name: Congenital optic disc excavation
OrphaCode: 519333
DisorderType: Category
Children: Name: Peripapillary staphyloma
OrphaCode: 519400
DisorderType: Morphological anomaly
Name: Optic disc pit
OrphaCode: 519404
DisorderType: Morphological anomaly
Name: Coloboma of optic disc
OrphaCode: 98947
DisorderType: Morphological anomaly
Name: Familial cavitary optic disc anomaly
OrphaCode: 464760
DisorderType: Morphological anomaly
Name: Morning glory disc anomaly
OrphaCode: 35737
DisorderType: Morphological anomaly
Name: Isolated megalopapilla
OrphaCode: 519402
DisorderType: Morphological anomaly
Name: Rare disorder with optic disc malformation
OrphaCode: 519345
DisorderType: Category
Children: Name: SRD5A3-CDG
OrphaCode: 324737
DisorderType: Disease
Name: Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
OrphaCode: 435930
DisorderType: Disease
Name: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
OrphaCode: 52055
DisorderType: Malformation syndrome
Name: Renal coloboma syndrome
OrphaCode: 1475
DisorderType: Malformation syndrome
Name: Rare palpebral disorder
OrphaCode: 98560
DisorderType: Category
Children: Name: Congenital malformation of the eyelid
OrphaCode: 98561
DisorderType: Category
Children: Name: Cryptophthalmia
OrphaCode: 98562
DisorderType: Category
Children: Name: Fraser syndrome
OrphaCode: 2052
DisorderType: Malformation syndrome
Name: Isolated cryptophthalmia
OrphaCode: 91396
DisorderType: Morphological anomaly
Children: Name: Congenital symblepharon
OrphaCode: 98948
DisorderType: Clinical subtype
Name: Complete cryptophthalmia
OrphaCode: 98949
DisorderType: Clinical subtype
Name: Partial cryptophthalmia
OrphaCode: 98950
DisorderType: Clinical subtype
Name: Microblepharon-ablephara syndrome
OrphaCode: 98563
DisorderType: Clinical group
Children: Name: Ablepharon macrostomia syndrome
OrphaCode: 920
DisorderType: Malformation syndrome
Name: Neu-Laxova syndrome
OrphaCode: 2671
DisorderType: Malformation syndrome
Children: Name: Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
OrphaCode: 583607
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
OrphaCode: 583612
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
OrphaCode: 583602
DisorderType: Etiological subtype
Name: Eyelid border anomaly
OrphaCode: 98564
DisorderType: Category
Children: Name: Isolated ankyloblepharon filiforme adnatum
OrphaCode: 91397
DisorderType: Morphological anomaly
Name: Syndromic ankyloblepharon filiforme adnatum
OrphaCode: 98565
DisorderType: Category
Children: Name: Popliteal pterygium syndrome
OrphaCode: 294963
DisorderType: Clinical group
Children: Name: Bartsocas-Papas syndrome
OrphaCode: 1234
DisorderType: Malformation syndrome
Name: Autosomal dominant popliteal pterygium syndrome
OrphaCode: 1300
DisorderType: Malformation syndrome
Name: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
OrphaCode: 1071
DisorderType: Malformation syndrome
Children: Name: Ankyloblepharon filiforme adnatum-cleft palate syndrome
OrphaCode: 1072
DisorderType: Clinical subtype
Name: Ankyloblepharon filiforme adnatum-imperforate anus syndrome
OrphaCode: 1074
DisorderType: Clinical subtype
Name: Frontofacionasal dysplasia
OrphaCode: 1791
DisorderType: Malformation syndrome
Name: Microphthalmia-ankyloblepharon-intellectual disability syndrome
OrphaCode: 85275
DisorderType: Malformation syndrome
Name: Syndromic eyelid coloboma
OrphaCode: 98566
DisorderType: Category
Children: Name: Treacher-Collins syndrome
OrphaCode: 861
DisorderType: Malformation syndrome
Name: Nager syndrome
OrphaCode: 245
DisorderType: Malformation syndrome
Name: Postaxial acrofacial dysostosis
OrphaCode: 246
DisorderType: Malformation syndrome
Name: Bartsocas-Papas syndrome
OrphaCode: 1234
DisorderType: Malformation syndrome
Name: Frontofacionasal dysplasia
OrphaCode: 1791
DisorderType: Malformation syndrome
Name: Nasopalpebral lipoma-coloboma syndrome
OrphaCode: 2399
DisorderType: Malformation syndrome
Name: Oculotrichoanal syndrome
OrphaCode: 2717
DisorderType: Malformation syndrome
Name: Coloboma of eyelid
OrphaCode: 98946
DisorderType: Morphological anomaly
Name: Congenital eyelid retraction
OrphaCode: 99176
DisorderType: Morphological anomaly
Name: Rare eyelid malposition disorder
OrphaCode: 98567
DisorderType: Category
Children: Name: Rare disorder with ptosis
OrphaCode: 98578
DisorderType: Category
Children: Name: X-linked centronuclear myopathy
OrphaCode: 596
DisorderType: Disease
Name: Dubowitz syndrome
OrphaCode: 235
DisorderType: Malformation syndrome
Name: Jacobsen syndrome
OrphaCode: 2308
DisorderType: Malformation syndrome
Name: Proximal myotonic myopathy
OrphaCode: 606
DisorderType: Disease
Name: Oculopharyngeal muscular dystrophy
OrphaCode: 270
DisorderType: Disease
Name: Oculogastrointestinal muscular dystrophy
OrphaCode: 1876
DisorderType: Disease
Name: Borjeson-Forssman-Lehmann syndrome
OrphaCode: 127
DisorderType: Malformation syndrome
Name: Camptodactyly-joint contractures-facial skeletal defects syndrome
OrphaCode: 1323
DisorderType: Malformation syndrome
Name: Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
OrphaCode: 1352
DisorderType: Malformation syndrome
Name: Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
OrphaCode: 2057
DisorderType: Malformation syndrome
Name: Acrootoocular syndrome
OrphaCode: 2980
DisorderType: Malformation syndrome
Name: Ptosis-vocal cord paralysis syndrome
OrphaCode: 2997
DisorderType: Malformation syndrome
Name: Ptosis-strabismus-ectopic pupils syndrome
OrphaCode: 2999
DisorderType: Malformation syndrome
Name: Baraitser-Winter cerebrofrontofacial syndrome
OrphaCode: 2995
DisorderType: Malformation syndrome
Name: Mitochondrial DNA-related progressive external ophthalmoplegia
OrphaCode: 663
DisorderType: Disease
Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: Mitochondrial neurogastrointestinal encephalomyopathy
OrphaCode: 298
DisorderType: Disease
Name: Congenital myasthenic syndrome
OrphaCode: 590
DisorderType: Disease
Children: Name: Postsynaptic congenital myasthenic syndromes
OrphaCode: 98913
DisorderType: Etiological subtype
Name: Presynaptic congenital myasthenic syndromes
OrphaCode: 98914
DisorderType: Etiological subtype
Name: Synaptic congenital myasthenic syndromes
OrphaCode: 98915
DisorderType: Etiological subtype
Name: Congenital myasthenic syndromes with glycosylation defect
OrphaCode: 353327
DisorderType: Etiological subtype
Name: Dopamine beta-hydroxylase deficiency
OrphaCode: 230
DisorderType: Disease
Name: Congenital fibrosis of extraocular muscles
OrphaCode: 45358
DisorderType: Disease
Name: Char syndrome
OrphaCode: 46627
DisorderType: Malformation syndrome
Name: Goldberg-Shprintzen megacolon syndrome
OrphaCode: 66629
DisorderType: Malformation syndrome
Name: Marcus-Gunn syndrome
OrphaCode: 91412
DisorderType: Disease
Children: Name: Inverse Marcus-Gunn phenomenon
OrphaCode: 98951
DisorderType: Clinical subtype
Name: Marin-Amat syndrome
OrphaCode: 101104
DisorderType: Clinical subtype
Name: Congenital Horner syndrome
OrphaCode: 91413
DisorderType: Disease
Name: Oculopharyngodistal myopathy
OrphaCode: 98897
DisorderType: Disease
Name: Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
OrphaCode: 228396
DisorderType: Malformation syndrome
Name: Steinert myotonic dystrophy
OrphaCode: 273
DisorderType: Disease
Children: Name: Childhood-onset Steinert myotonic dystrophy
OrphaCode: 589824
DisorderType: Clinical subtype
Name: Juvenile-onset Steinert myotonic dystrophy
OrphaCode: 589827
DisorderType: Clinical subtype
Name: Adult-onset Steinert myotonic dystrophy
OrphaCode: 589830
DisorderType: Clinical subtype
Name: Late-onset Steinert myotonic dystrophy
OrphaCode: 589833
DisorderType: Clinical subtype
Name: Congenital-onset Steinert myotonic dystrophy
OrphaCode: 589821
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 2
OrphaCode: 580
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 2, severe form
OrphaCode: 217085
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 2, attenuated form
OrphaCode: 217093
DisorderType: Clinical subtype
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Saethre-Chotzen syndrome
OrphaCode: 794
DisorderType: Malformation syndrome
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome
OrphaCode: 126
DisorderType: Malformation syndrome
Children: Name: Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
OrphaCode: 572354
DisorderType: Clinical subtype
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome type 2
OrphaCode: 572361
DisorderType: Clinical subtype
Name: Treacher-Collins syndrome
OrphaCode: 861
DisorderType: Malformation syndrome
Name: Cornelia de Lange syndrome
OrphaCode: 199
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome
OrphaCode: 293642
DisorderType: Clinical group
Children: Name: SMARCA2-related blepharophimosis-intellectual disability syndrome
OrphaCode: 637013
DisorderType: Malformation syndrome
Name: Distal deletion 3p
OrphaCode: 1620
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome, Ohdo type
OrphaCode: 2728
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome, SBBYS type
OrphaCode: 3047
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome, MKB type
OrphaCode: 293707
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome, Verloes type
OrphaCode: 293725
DisorderType: Malformation syndrome
Name: Congenital ptosis
OrphaCode: 91411
DisorderType: Disease
Name: Weiss-Kruszka Syndrome
OrphaCode: 502430
DisorderType: Malformation syndrome
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome plus
OrphaCode: 572333
DisorderType: Malformation syndrome
Name: Epiblepharon
OrphaCode: 99169
DisorderType: Morphological anomaly
Name: Euryblepharon
OrphaCode: 99172
DisorderType: Morphological anomaly
Name: Rare disorder with ectropion
OrphaCode: 519268
DisorderType: Category
Children: Name: Congenital ectropion
OrphaCode: 98570
DisorderType: Category
Children: Name: Blepharo-cheilo-odontic syndrome
OrphaCode: 1997
DisorderType: Malformation syndrome
Name: Kabuki syndrome
OrphaCode: 2322
DisorderType: Malformation syndrome
Name: Isolated congenital ectropion
OrphaCode: 99171
DisorderType: Morphological anomaly
Name: Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
OrphaCode: 357158
DisorderType: Disease
Name: Secondary ectropion
OrphaCode: 98571
DisorderType: Category
Children: Name: Down syndrome
OrphaCode: 870
DisorderType: Malformation syndrome
Name: Postaxial acrofacial dysostosis
OrphaCode: 246
DisorderType: Malformation syndrome
Name: Barber-Say syndrome
OrphaCode: 1231
DisorderType: Malformation syndrome
Name: Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
OrphaCode: 2269
DisorderType: Disease
Name: Xeroderma pigmentosum
OrphaCode: 910
DisorderType: Disease
Name: Xeroderma pigmentosum variant
OrphaCode: 90342
DisorderType: Disease
Name: Xeroderma pigmentosum-Cockayne syndrome complex
OrphaCode: 220295
DisorderType: Disease
Name: Autosomal recessive congenital ichthyosis
OrphaCode: 281097
DisorderType: Clinical group
Children: Name: Acral self-healing collodion baby
OrphaCode: 281127
DisorderType: Disease
Name: Self-improving collodion baby
OrphaCode: 281122
DisorderType: Disease
Name: Harlequin ichthyosis
OrphaCode: 457
DisorderType: Disease
Name: Congenital ichthyosiform erythroderma
OrphaCode: 79394
DisorderType: Disease
Name: Bathing suit ichthyosis
OrphaCode: 100976
DisorderType: Disease
Name: Lamellar ichthyosis
OrphaCode: 313
DisorderType: Disease
Name: Exfoliative ichthyosis
OrphaCode: 289586
DisorderType: Disease
Name: Rare disorder with entropion
OrphaCode: 519270
DisorderType: Category
Children: Name: Xeroderma pigmentosum
OrphaCode: 910
DisorderType: Disease
Name: Xeroderma pigmentosum variant
OrphaCode: 90342
DisorderType: Disease
Name: Tarsal kink syndrome
OrphaCode: 99170
DisorderType: Morphological anomaly
Name: Xeroderma pigmentosum-Cockayne syndrome complex
OrphaCode: 220295
DisorderType: Disease
Name: Isolated congenital entropion
OrphaCode: 519386
DisorderType: Morphological anomaly
Name: Isolated blepharochalasis
OrphaCode: 519390
DisorderType: Disease
Name: Ascher syndrome
OrphaCode: 1253
DisorderType: Malformation syndrome
Name: Mucous membrane pemphigoid
OrphaCode: 46486
DisorderType: Disease
Name: Syndromic epicanthus
OrphaCode: 98574
DisorderType: Category
Children: Name: Distal duplication 14q
OrphaCode: 1705
DisorderType: Malformation syndrome
Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: Down syndrome
OrphaCode: 870
DisorderType: Malformation syndrome
Name: Williams syndrome
OrphaCode: 904
DisorderType: Malformation syndrome
Name: Monosomy 5p
OrphaCode: 281
DisorderType: Malformation syndrome
Name: Monosomy 13q14
OrphaCode: 1587
DisorderType: Malformation syndrome
Name: Marinesco-Sjögren syndrome
OrphaCode: 559
DisorderType: Disease
Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: Congenital cataracts-facial dysmorphism-neuropathy syndrome
OrphaCode: 48431
DisorderType: Malformation syndrome
Name: Syndromic telecanthus
OrphaCode: 98575
DisorderType: Category
Children: Name: Opitz GBBB syndrome
OrphaCode: 2745
DisorderType: Malformation syndrome
Name: Waardenburg syndrome type 1
OrphaCode: 894
DisorderType: Clinical subtype
Name: Waardenburg syndrome type 3
OrphaCode: 896
DisorderType: Clinical subtype
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome
OrphaCode: 126
DisorderType: Malformation syndrome
Children: Name: Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
OrphaCode: 572354
DisorderType: Clinical subtype
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome type 2
OrphaCode: 572361
DisorderType: Clinical subtype
Name: Oculocerebrofacial syndrome, Kaufman type
OrphaCode: 2707
DisorderType: Malformation syndrome
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome plus
OrphaCode: 572333
DisorderType: Malformation syndrome
Name: Syndromic outer canthal malposition
OrphaCode: 98576
DisorderType: Category
Children: Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Down syndrome
OrphaCode: 870
DisorderType: Malformation syndrome
Name: Treacher-Collins syndrome
OrphaCode: 861
DisorderType: Malformation syndrome
Name: Nager syndrome
OrphaCode: 245
DisorderType: Malformation syndrome
Name: Noonan syndrome-like disorder with loose anagen hair
OrphaCode: 2701
DisorderType: Malformation syndrome
Name: Rare eyebrow/eyelash disorder
OrphaCode: 98594
DisorderType: Category
Children: Name: Lymphedema-distichiasis syndrome
OrphaCode: 33001
DisorderType: Malformation syndrome
Name: Isolated distichiasis
OrphaCode: 99177
DisorderType: Morphological anomaly
Name: Lacrimal drainage system anomaly
OrphaCode: 98605
DisorderType: Category
Children: Name: Nasolacrimal duct cyst
OrphaCode: 141083
DisorderType: Morphological anomaly
Name: Familial congenital nasolacrimal duct obstruction
OrphaCode: 451612
DisorderType: Morphological anomaly
Name: Syndromic lacrimal system disorder
OrphaCode: 519274
DisorderType: Category
Children: Name: Syndromic orbital border hypoplasia
OrphaCode: 98606
DisorderType: Malformation syndrome
Name: Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
OrphaCode: 228396
DisorderType: Malformation syndrome
Name: Dyskeratosis congenita
OrphaCode: 1775
DisorderType: Disease
Name: Structural developmental eye defect
OrphaCode: 519272
DisorderType: Category
Children: Name: Melnick-Needles syndrome
OrphaCode: 2484
DisorderType: Malformation syndrome
Name: Microphthalmia-anophthalmia-coloboma
OrphaCode: 98555
DisorderType: Category
Children: Name: Isolated microphthalmia-anophthalmia-coloboma
OrphaCode: 2542
DisorderType: Clinical group
Children: Name: Nanophthalmos
OrphaCode: 35612
DisorderType: Malformation syndrome
Name: Colobomatous microphthalmia
OrphaCode: 98938
DisorderType: Malformation syndrome
Name: Syndromic microphthalmia-anophthalmia-coloboma
OrphaCode: 202948
DisorderType: Category
Children: Name: Microphthalmia, Lenz type
OrphaCode: 568
DisorderType: Malformation syndrome
Name: Microphthalmia with limb anomalies
OrphaCode: 1106
DisorderType: Malformation syndrome
Name: COFS syndrome
OrphaCode: 1466
DisorderType: Clinical subtype
Name: Ectodermal dysplasia-blindness syndrome
OrphaCode: 1806
DisorderType: Malformation syndrome
Name: Matthew-Wood syndrome
OrphaCode: 2470
DisorderType: Malformation syndrome
Name: Micro syndrome
OrphaCode: 2510
DisorderType: Malformation syndrome
Name: Microphthalmia with linear skin defects syndrome
OrphaCode: 2556
DisorderType: Malformation syndrome
Name: Oculofaciocardiodental syndrome
OrphaCode: 2712
DisorderType: Malformation syndrome
Name: MMEP syndrome
OrphaCode: 3434
DisorderType: Malformation syndrome
Name: Anophthalmia/microphthalmia-esophageal atresia syndrome
OrphaCode: 77298
DisorderType: Malformation syndrome
Name: Microphthalmia-brain atrophy syndrome
OrphaCode: 77299
DisorderType: Malformation syndrome
Name: Microphthalmia-ankyloblepharon-intellectual disability syndrome
OrphaCode: 85275
DisorderType: Malformation syndrome
Name: Microphthalmia with brain and digit anomalies
OrphaCode: 139471
DisorderType: Malformation syndrome
Name: Oculoauricular syndrome, Schorderet type
OrphaCode: 157962
DisorderType: Malformation syndrome
Name: Syndromic microphthalmia type 5
OrphaCode: 178364
DisorderType: Malformation syndrome
Name: Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
OrphaCode: 251279
DisorderType: Disease
Name: Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
OrphaCode: 363741
DisorderType: Disease
Name: Colobomatous microphthalmia-rhizomelic dysplasia syndrome
OrphaCode: 424099
DisorderType: Malformation syndrome
Name: X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
OrphaCode: 431140
DisorderType: Malformation syndrome
Name: Macrosomia-microphthalmia-cleft palate syndrome
OrphaCode: 2432
DisorderType: Malformation syndrome
Name: Microphthalmia-microtia-fetal akinesia syndrome
OrphaCode: 2547
DisorderType: Malformation syndrome
Name: Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
OrphaCode: 603494
DisorderType: Malformation syndrome
Name: Oculogastrointestinal-neurodevelopmental syndrome
OrphaCode: 611201
DisorderType: Malformation syndrome
Name: Euthyroid Graves orbitopathy
OrphaCode: 466682
DisorderType: Disease
Name: Colobomatous macrophthalmia-microcornea syndrome
OrphaCode: 468672
DisorderType: Disease
Name: Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome
OrphaCode: 659904
DisorderType: Malformation syndrome
Name: Congenital cystic eye
OrphaCode: 519384
DisorderType: Morphological anomaly
Name: High myopia-sensorineural deafness syndrome
OrphaCode: 363396
DisorderType: Disease
Name: Anterior segment developmental anomaly
OrphaCode: 88632
DisorderType: Category
Children: Name: Anterior segment developmental anomaly without extraocular manifestations
OrphaCode: 98634
DisorderType: Category
Children: Name: Bilateral acute depigmentation of the iris
OrphaCode: 69736
DisorderType: Disease
Name: Axenfeld anomaly
OrphaCode: 98978
DisorderType: Morphological anomaly
Name: Isolated aniridia
OrphaCode: 250923
DisorderType: Morphological anomaly
Name: Autosomal recessive anterior segment dysgenesis
OrphaCode: 519388
DisorderType: Malformation syndrome
Name: Peters anomaly
OrphaCode: 708
DisorderType: Morphological anomaly
Name: Rieger anomaly
OrphaCode: 91483
DisorderType: Morphological anomaly
Name: Congenital microcoria
OrphaCode: 566
DisorderType: Malformation syndrome
Name: Congenital ectropion uveae
OrphaCode: 91491
DisorderType: Malformation syndrome
Name: Coloboma of iris
OrphaCode: 98944
DisorderType: Morphological anomaly
Name: Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
OrphaCode: 488197
DisorderType: Disease
Name: Isolated iridoschisis
OrphaCode: 519392
DisorderType: Disease
Name: Anterior segment developmental abnormality with extraocular manifestations
OrphaCode: 519276
DisorderType: Category
Children: Name: Peters plus syndrome
OrphaCode: 709
DisorderType: Malformation syndrome
Name: Axenfeld-Rieger syndrome
OrphaCode: 782
DisorderType: Malformation syndrome
Name: Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
OrphaCode: 139450
DisorderType: Malformation syndrome
Name: Uveal coloboma-cleft lip and palate-intellectual disability
OrphaCode: 1473
DisorderType: Malformation syndrome
Name: GMS syndrome
OrphaCode: 2090
DisorderType: Malformation syndrome
Name: Pierson syndrome
OrphaCode: 2670
DisorderType: Malformation syndrome
Name: SHORT syndrome
OrphaCode: 3163
DisorderType: Malformation syndrome
Name: Cat-eye syndrome
OrphaCode: 195
DisorderType: Malformation syndrome
Name: Distal deletion 6p
OrphaCode: 96125
DisorderType: Malformation syndrome
Name: Alagille syndrome
OrphaCode: 52
DisorderType: Malformation syndrome
Children: Name: Alagille syndrome due to 20p12 microdeletion
OrphaCode: 261600
DisorderType: Etiological subtype
Name: Alagille syndrome due to a JAG1 point mutation
OrphaCode: 261619
DisorderType: Etiological subtype
Name: Alagille syndrome due to a NOTCH2 point mutation
OrphaCode: 261629
DisorderType: Etiological subtype
Name: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
OrphaCode: 52055
DisorderType: Malformation syndrome
Name: Syndromic aniridia
OrphaCode: 98557
DisorderType: Category
Children: Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: Aniridia-cerebellar ataxia-intellectual disability syndrome
OrphaCode: 1065
DisorderType: Malformation syndrome
Name: Aniridia-renal agenesis-psychomotor retardation syndrome
OrphaCode: 1064
DisorderType: Malformation syndrome
Name: Aniridia-absent patella syndrome
OrphaCode: 1069
DisorderType: Malformation syndrome
Name: Aniridia-ptosis-intellectual disability-familial obesity syndrome
OrphaCode: 1067
DisorderType: Malformation syndrome
Name: Aniridia-intellectual disability syndrome
OrphaCode: 1068
DisorderType: Malformation syndrome
Name: Stromme syndrome
OrphaCode: 506307
DisorderType: Malformation syndrome
Name: Jung syndrome
OrphaCode: 2321
DisorderType: Malformation syndrome
Name: Early onset non-syndromic cataract
OrphaCode: 91492
DisorderType: Disease
Children: Name: Early-onset partial cataract
OrphaCode: 98992
DisorderType: Clinical subtype
Children: Name: Pulverulent cataract
OrphaCode: 98984
DisorderType: Clinical subtype
Name: Early-onset anterior polar cataract
OrphaCode: 98988
DisorderType: Clinical subtype
Name: Coralliform cataract
OrphaCode: 98990
DisorderType: Clinical subtype
Name: Early-onset posterior polar cataract
OrphaCode: 98993
DisorderType: Clinical subtype
Name: Early-onset zonular cataract
OrphaCode: 98995
DisorderType: Clinical subtype
Children: Name: Early-onset sutural cataract
OrphaCode: 98985
DisorderType: Clinical subtype
Name: Early-onset nuclear cataract
OrphaCode: 98991
DisorderType: Clinical subtype
Name: Early-onset lamellar cataract
OrphaCode: 441452
DisorderType: Clinical subtype
Name: Cerulean cataract
OrphaCode: 98989
DisorderType: Clinical subtype
Name: Early-onset posterior subcapsular cataract
OrphaCode: 441447
DisorderType: Clinical subtype
Name: Total early-onset cataract
OrphaCode: 98994
DisorderType: Clinical subtype
Name: Lens size anomaly
OrphaCode: 98652
DisorderType: Category
Children: Name: Syndromic microspherophakia
OrphaCode: 519294
DisorderType: Category
Children: Name: Microspherophakia-metaphyseal dysplasia syndrome
OrphaCode: 2551
DisorderType: Malformation syndrome
Name: Weill-Marchesani syndrome
OrphaCode: 3449
DisorderType: Malformation syndrome
Name: Spondylo-ocular syndrome
OrphaCode: 85194
DisorderType: Malformation syndrome
Name: Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
OrphaCode: 363992
DisorderType: Disease
Name: Autosomal dominant vitreoretinochoroidopathy
OrphaCode: 3086
DisorderType: Disease
Name: Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
OrphaCode: 2084
DisorderType: Malformation syndrome
Name: Isolated microspherophakia
OrphaCode: 519396
DisorderType: Morphological anomaly
Name: Lens position anomaly
OrphaCode: 98653
DisorderType: Category
Children: Name: Isolated ectopia lentis
OrphaCode: 1885
DisorderType: Malformation syndrome
Name: Syndromic ectopia lentis
OrphaCode: 519292
DisorderType: Category
Children: Name: Focal dermal hypoplasia
OrphaCode: 2092
DisorderType: Malformation syndrome
Name: Weill-Marchesani syndrome
OrphaCode: 3449
DisorderType: Malformation syndrome
Name: Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
OrphaCode: 231736
DisorderType: Malformation syndrome
Name: Marfan syndrome
OrphaCode: 558
DisorderType: Disease
Children: Name: Marfan syndrome type 1
OrphaCode: 284963
DisorderType: Clinical subtype
Name: Marfan syndrome type 2
OrphaCode: 284973
DisorderType: Clinical subtype
Name: Microspherophakia-metaphyseal dysplasia syndrome
OrphaCode: 2551
DisorderType: Malformation syndrome
Name: Blindness-scoliosis-arachnodactyly syndrome
OrphaCode: 171844
DisorderType: Malformation syndrome
Name: Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
OrphaCode: 412022
DisorderType: Malformation syndrome
Name: Aniridia-intellectual disability syndrome
OrphaCode: 1068
DisorderType: Malformation syndrome
Name: Blepharoptosis-myopia-ectopia lentis syndrome
OrphaCode: 1259
DisorderType: Disease
Name: Epidermolysis bullosa simplex with anodontia/hypodontia
OrphaCode: 2325
DisorderType: Malformation syndrome
Name: Homocystinuria due to cystathionine beta-synthase deficiency
OrphaCode: 394
DisorderType: Disease
Name: Encephalopathy due to sulfite oxidase deficiency
OrphaCode: 833
DisorderType: Disease
Children: Name: Isolated sulfite oxidase deficiency
OrphaCode: 99731
DisorderType: Clinical subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency
OrphaCode: 99732
DisorderType: Clinical subtype
Children: Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
OrphaCode: 308386
DisorderType: Etiological subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
OrphaCode: 308393
DisorderType: Etiological subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
OrphaCode: 308400
DisorderType: Etiological subtype
Name: Marshall syndrome
OrphaCode: 560
DisorderType: Malformation syndrome
Name: Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
OrphaCode: 2084
DisorderType: Malformation syndrome
Name: Lens shape anomaly
OrphaCode: 98655
DisorderType: Category
Children: Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: Rubinstein-Taybi syndrome
OrphaCode: 783
DisorderType: Malformation syndrome
Children: Name: Rubinstein-Taybi syndrome due to CREBBP mutations
OrphaCode: 353277
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
OrphaCode: 353281
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
OrphaCode: 353284
DisorderType: Etiological subtype
Name: Meckel syndrome
OrphaCode: 564
DisorderType: Malformation syndrome
Name: Microphthalmia, Lenz type
OrphaCode: 568
DisorderType: Malformation syndrome
Name: Alport syndrome
OrphaCode: 63
DisorderType: Disease
Children: Name: X-linked Alport syndrome
OrphaCode: 88917
DisorderType: Clinical subtype
Name: Autosomal dominant Alport syndrome
OrphaCode: 88918
DisorderType: Clinical subtype
Name: Autosomal recessive Alport syndrome
OrphaCode: 88919
DisorderType: Clinical subtype
Name: X-linked Alport syndrome-diffuse leiomyomatosis
OrphaCode: 1018
DisorderType: Clinical subtype
Name: Digenic Alport syndrome
OrphaCode: 653722
DisorderType: Clinical subtype
Name: Focal dermal hypoplasia
OrphaCode: 2092
DisorderType: Malformation syndrome
Name: Coloboma of eye lens
OrphaCode: 98943
DisorderType: Morphological anomaly
Name: Congenital cornea plana
OrphaCode: 53691
DisorderType: Morphological anomaly
Name: Corneodysgenesis
OrphaCode: 98635
DisorderType: Category
Children: Name: Isolated congenital megalocornea
OrphaCode: 91489
DisorderType: Morphological anomaly
Name: Isolated congenital sclerocornea
OrphaCode: 91490
DisorderType: Morphological anomaly
Name: Coloboma of choroid and retina
OrphaCode: 98942
DisorderType: Morphological anomaly
Name: Coloboma of macula-brachydactyly type B syndrome
OrphaCode: 1471
DisorderType: Malformation syndrome
Name: Macular coloboma-cleft palate-hallux valgus syndrome
OrphaCode: 91494
DisorderType: Malformation syndrome
Name: Coloboma of macula
OrphaCode: 98945
DisorderType: Morphological anomaly
Name: Primary early-onset glaucoma
OrphaCode: 156005
DisorderType: Clinical group
Children: Name: Congenital glaucoma
OrphaCode: 98976
DisorderType: Disease
Name: Juvenile glaucoma
OrphaCode: 98977
DisorderType: Disease
Name: Congenital malformation of the eye with glaucoma as a major feature
OrphaCode: 98631
DisorderType: Category
Children: Name: Coats disease
OrphaCode: 190
DisorderType: Disease
Name: Nanophthalmos
OrphaCode: 35612
DisorderType: Malformation syndrome
Name: Iridocorneal endothelial syndrome
OrphaCode: 64734
DisorderType: Disease
Children: Name: Chandler syndrome
OrphaCode: 98979
DisorderType: Clinical subtype
Name: Cogan-Reese syndrome
OrphaCode: 98980
DisorderType: Clinical subtype
Name: Essential iris atrophy
OrphaCode: 98981
DisorderType: Clinical subtype
Name: Neovascular glaucoma
OrphaCode: 94058
DisorderType: Particular clinical situation in a disease or syndrome
Name: Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
OrphaCode: 238763
DisorderType: Malformation syndrome
Name: X-linked retinoschisis
OrphaCode: 792
DisorderType: Malformation syndrome
Name: Anterior segment developmental anomaly without extraocular manifestations
OrphaCode: 98634
DisorderType: Category
Children: Name: Bilateral acute depigmentation of the iris
OrphaCode: 69736
DisorderType: Disease
Name: Axenfeld anomaly
OrphaCode: 98978
DisorderType: Morphological anomaly
Name: Isolated aniridia
OrphaCode: 250923
DisorderType: Morphological anomaly
Name: Autosomal recessive anterior segment dysgenesis
OrphaCode: 519388
DisorderType: Malformation syndrome
Name: Peters anomaly
OrphaCode: 708
DisorderType: Morphological anomaly
Name: Rieger anomaly
OrphaCode: 91483
DisorderType: Morphological anomaly
Name: Congenital microcoria
OrphaCode: 566
DisorderType: Malformation syndrome
Name: Congenital ectropion uveae
OrphaCode: 91491
DisorderType: Malformation syndrome
Name: Coloboma of iris
OrphaCode: 98944
DisorderType: Morphological anomaly
Name: Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
OrphaCode: 488197
DisorderType: Disease
Name: Isolated iridoschisis
OrphaCode: 519392
DisorderType: Disease
Name: Posterior polymorphous corneal dystrophy
OrphaCode: 98973
DisorderType: Disease
Name: Isolated optic nerve aplasia
OrphaCode: 637064
DisorderType: Morphological anomaly
Name: Isolated optic nerve hypoplasia
OrphaCode: 637061
DisorderType: Morphological anomaly
Name: Developmental anomaly of metabolic origin
OrphaCode: 139009
DisorderType: Category
Children: Name: Multiple sulfatase deficiency
OrphaCode: 585
DisorderType: Disease
Name: Fabry disease
OrphaCode: 324
DisorderType: Disease
Name: Hypophosphatasia
OrphaCode: 436
DisorderType: Disease
Children: Name: Perinatal lethal hypophosphatasia
OrphaCode: 247623
DisorderType: Clinical subtype
Name: Prenatal benign hypophosphatasia
OrphaCode: 247638
DisorderType: Clinical subtype
Name: Infantile hypophosphatasia
OrphaCode: 247651
DisorderType: Clinical subtype
Name: Childhood-onset hypophosphatasia
OrphaCode: 247667
DisorderType: Clinical subtype
Name: Adult hypophosphatasia
OrphaCode: 247676
DisorderType: Clinical subtype
Name: Odontohypophosphatasia
OrphaCode: 247685
DisorderType: Clinical subtype
Name: Homocystinuria due to cystathionine beta-synthase deficiency
OrphaCode: 394
DisorderType: Disease
Name: Zellweger syndrome
OrphaCode: 912
DisorderType: Disease
Name: Encephalopathy due to sulfite oxidase deficiency
OrphaCode: 833
DisorderType: Disease
Children: Name: Isolated sulfite oxidase deficiency
OrphaCode: 99731
DisorderType: Clinical subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency
OrphaCode: 99732
DisorderType: Clinical subtype
Children: Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
OrphaCode: 308386
DisorderType: Etiological subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
OrphaCode: 308393
DisorderType: Etiological subtype
Name: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
OrphaCode: 308400
DisorderType: Etiological subtype
Name: Infantile Refsum disease
OrphaCode: 772
DisorderType: Disease
Name: Sterol biosynthesis disorder
OrphaCode: 79195
DisorderType: Category
Children: Name: CHILD syndrome
OrphaCode: 139
DisorderType: Disease
Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: X-linked dominant chondrodysplasia punctata
OrphaCode: 35173
DisorderType: Disease
Name: Lathosterolosis
OrphaCode: 46059
DisorderType: Disease
Name: Mevalonate kinase deficiency
OrphaCode: 309025
DisorderType: Disease
Children: Name: Mevalonic aciduria
OrphaCode: 29
DisorderType: Clinical subtype
Name: Hyperimmunoglobulinemia D with periodic fever
OrphaCode: 343
DisorderType: Clinical subtype
Name: Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
OrphaCode: 488168
DisorderType: Malformation syndrome
Name: Greenberg dysplasia
OrphaCode: 1426
DisorderType: Disease
Name: Desmosterolosis
OrphaCode: 35107
DisorderType: Disease
Name: MEND syndrome
OrphaCode: 401973
DisorderType: Malformation syndrome
Name: CK syndrome
OrphaCode: 251383
DisorderType: Malformation syndrome
Name: Mucolipidosis
OrphaCode: 79212
DisorderType: Category
Children: Name: Mucolipidosis type II
OrphaCode: 576
DisorderType: Disease
Name: Mucolipidosis type III
OrphaCode: 577
DisorderType: Disease
Children: Name: Mucolipidosis type III alpha/beta
OrphaCode: 423461
DisorderType: Clinical subtype
Name: Mucolipidosis type III gamma
OrphaCode: 423470
DisorderType: Clinical subtype
Name: Mucolipidosis type IV
OrphaCode: 578
DisorderType: Disease
Name: Mucopolysaccharidosis
OrphaCode: 79213
DisorderType: Category
Children: Name: Mucopolysaccharidosis type 6
OrphaCode: 583
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 6, rapidly progressing
OrphaCode: 276212
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 6, slowly progressing
OrphaCode: 276223
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 7
OrphaCode: 584
DisorderType: Disease
Name: Mucopolysaccharidosis type 2
OrphaCode: 580
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 2, severe form
OrphaCode: 217085
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 2, attenuated form
OrphaCode: 217093
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 1
OrphaCode: 579
DisorderType: Disease
Children: Name: Hurler syndrome
OrphaCode: 93473
DisorderType: Clinical subtype
Name: Scheie syndrome
OrphaCode: 93474
DisorderType: Clinical subtype
Name: Hurler-Scheie syndrome
OrphaCode: 93476
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 3
OrphaCode: 581
DisorderType: Disease
Children: Name: Sanfilippo syndrome type A
OrphaCode: 79269
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type B
OrphaCode: 79270
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type C
OrphaCode: 79271
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type D
OrphaCode: 79272
DisorderType: Etiological subtype
Name: Mucopolysaccharidosis type 4
OrphaCode: 582
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 4B
OrphaCode: 309310
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 4A
OrphaCode: 309297
DisorderType: Clinical subtype
Name: Hyaluronidase deficiency
OrphaCode: 67041
DisorderType: Disease
Name: Mucopolysaccharidosis type 10
OrphaCode: 662216
DisorderType: Disease
Name: Sialidosis type 2
OrphaCode: 87876
DisorderType: Disease
Children: Name: Juvenile sialidosis type 2
OrphaCode: 93399
DisorderType: Clinical subtype
Name: Congenital sialidosis type 2
OrphaCode: 93400
DisorderType: Clinical subtype
Name: Pseudohypoparathyroidism
OrphaCode: 97593
DisorderType: Category
Children: Name: Pseudohypoparathyroidism without Albright hereditary osteodystrophy
OrphaCode: 457062
DisorderType: Clinical group
Children: Name: Pseudohypoparathyroidism type 1B
OrphaCode: 94089
DisorderType: Disease
Name: Pseudohypoparathyroidism type 2
OrphaCode: 94090
DisorderType: Disease
Name: Pseudohypoparathyroidism with Albright hereditary osteodystrophy
OrphaCode: 457059
DisorderType: Clinical group
Children: Name: Pseudohypoparathyroidism type 1A
OrphaCode: 79443
DisorderType: Disease
Name: Pseudohypoparathyroidism type 1C
OrphaCode: 79444
DisorderType: Disease
Name: Pseudopseudohypoparathyroidism
OrphaCode: 79445
DisorderType: Disease
Name: CADDS
OrphaCode: 369942
DisorderType: Disease
Name: Congenital disorder of glycosylation with developmental anomaly
OrphaCode: 371235
DisorderType: Category
Children: Name: Congenital muscular dystrophy, Fukuyama type
OrphaCode: 272
DisorderType: Malformation syndrome
Name: Walker-Warburg syndrome
OrphaCode: 899
DisorderType: Disease
Name: Muscle-eye-brain disease
OrphaCode: 588
DisorderType: Malformation syndrome
Name: B4GALT1-CDG
OrphaCode: 79332
DisorderType: Disease
Name: Multiple congenital anomalies-hypotonia-seizures syndrome
OrphaCode: 280633
DisorderType: Malformation syndrome
Name: Multiple congenital anomalies-hypotonia-seizures syndrome type 2
OrphaCode: 300496
DisorderType: Malformation syndrome
Name: SLC35A2-CDG
OrphaCode: 356961
DisorderType: Disease
Name: XYLT1-CDG
OrphaCode: 370930
DisorderType: Disease
Name: Autism spectrum disorder-epilepsy-arthrogryposis syndrome
OrphaCode: 370943
DisorderType: Disease
Name: Congenital disorder of glycosylation with cardiac malformation as a major feature
OrphaCode: 371183
DisorderType: Category
Children: Name: Peters plus syndrome
OrphaCode: 709
DisorderType: Malformation syndrome
Name: Musculocontractural Ehlers-Danlos syndrome
OrphaCode: 2953
DisorderType: Disease
Name: CHIME syndrome
OrphaCode: 3474
DisorderType: Malformation syndrome
Name: MGAT2-CDG
OrphaCode: 79329
DisorderType: Disease
Name: COG7-CDG
OrphaCode: 79333
DisorderType: Disease
Name: Larsen-like syndrome, B3GAT3 type
OrphaCode: 284139
DisorderType: Malformation syndrome
Name: Congenital disorder of glycosylation-related bone disorder
OrphaCode: 371195
DisorderType: Category
Children: Name: Autosomal recessive spondylocostal dysostosis
OrphaCode: 2311
DisorderType: Malformation syndrome
Name: Schneckenbecken dysplasia
OrphaCode: 3144
DisorderType: Malformation syndrome
Name: Multiple osteochondromas
OrphaCode: 321
DisorderType: Disease
Name: B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 75496
DisorderType: Clinical subtype
Name: Hyperphosphatasia-intellectual disability syndrome
OrphaCode: 247262
DisorderType: Disease
Name: CHST3-related skeletal dysplasia
OrphaCode: 263463
DisorderType: Disease
Name: COG1-CDG
OrphaCode: 263508
DisorderType: Disease
Name: Larsen-like syndrome, B3GAT3 type
OrphaCode: 284139
DisorderType: Malformation syndrome
Name: TMEM165-CDG
OrphaCode: 314667
DisorderType: Disease
Name: Autosomal recessive cutis laxa type 2A
OrphaCode: 357058
DisorderType: Disease
Children: Name: Wrinkly skin syndrome
OrphaCode: 2834
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2, classic type
OrphaCode: 357074
DisorderType: Clinical subtype
Name: Temtamy preaxial brachydactyly syndrome
OrphaCode: 363417
DisorderType: Malformation syndrome
Name: Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
OrphaCode: 369837
DisorderType: Malformation syndrome
Name: B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 536467
DisorderType: Clinical subtype
Name: Congenital disorder of glycosylation with deafness as a major feature
OrphaCode: 371212
DisorderType: Category
Children: Name: CHIME syndrome
OrphaCode: 3474
DisorderType: Malformation syndrome
Name: RFT1-CDG
OrphaCode: 244310
DisorderType: Disease
Name: Temtamy preaxial brachydactyly syndrome
OrphaCode: 363417
DisorderType: Malformation syndrome
Name: Rare bone development disorder
OrphaCode: 139012
DisorderType: Category
Children: Name: Primary bone dysplasia
OrphaCode: 364526
DisorderType: Category
Children: Name: Genetic inflammatory or rheumatoid-like osteoarthropathy
OrphaCode: 498445
DisorderType: Category
Children: Name: Progressive pseudorheumatoid arthropathy of childhood
OrphaCode: 1159
DisorderType: Disease
Name: Hyaline fibromatosis syndrome
OrphaCode: 498474
DisorderType: Disease
Children: Name: Juvenile hyaline fibromatosis
OrphaCode: 2028
DisorderType: Clinical subtype
Name: Infantile systemic hyalinosis
OrphaCode: 2176
DisorderType: Clinical subtype
Name: CINCA syndrome
OrphaCode: 1451
DisorderType: Disease
Name: Sterile multifocal osteomyelitis with periostitis and pustulosis
OrphaCode: 210115
DisorderType: Disease
Name: Familial tumoral calcinosis
OrphaCode: 53715
DisorderType: Disease
Children: Name: Familial normophosphatemic tumoral calcinosis
OrphaCode: 306658
DisorderType: Clinical subtype
Name: Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
OrphaCode: 306661
DisorderType: Clinical subtype
Name: Majeed syndrome
OrphaCode: 77297
DisorderType: Disease
Name: Overgrowth or tall stature syndrome with skeletal involvement
OrphaCode: 498448
DisorderType: Category
Children: Name: X-linked severe syndromic thoracic aortic aneurysm and dissection
OrphaCode: 622925
DisorderType: Malformation syndrome
Name: PRC-2 complex-related overgrowth spectrum
OrphaCode: 659387
DisorderType: Clinical group
Children: Name: Cohen-Gibson syndrome
OrphaCode: 659396
DisorderType: Malformation syndrome
Name: Weaver syndrome
OrphaCode: 3447
DisorderType: Malformation syndrome
Name: Imagawa-Matsumoto syndrome
OrphaCode: 659463
DisorderType: Malformation syndrome
Name: Marfan syndrome
OrphaCode: 558
DisorderType: Disease
Children: Name: Marfan syndrome type 1
OrphaCode: 284963
DisorderType: Clinical subtype
Name: Marfan syndrome type 2
OrphaCode: 284973
DisorderType: Clinical subtype
Name: Proteus syndrome
OrphaCode: 744
DisorderType: Malformation syndrome
Name: Sotos syndrome
OrphaCode: 821
DisorderType: Disease
Name: Marshall-Smith syndrome
OrphaCode: 561
DisorderType: Malformation syndrome
Name: CLOVES syndrome
OrphaCode: 140944
DisorderType: Malformation syndrome
Name: Congenital contractural arachnodactyly
OrphaCode: 115
DisorderType: Malformation syndrome
Name: Loeys-Dietz syndrome
OrphaCode: 60030
DisorderType: Malformation syndrome
Name: Overgrowth syndrome with 2q37 translocation
OrphaCode: 498488
DisorderType: Malformation syndrome
Name: Tall stature-long halluces-multiple extra-epiphyses syndrome
OrphaCode: 329191
DisorderType: Disease
Name: Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome
OrphaCode: 498485
DisorderType: Malformation syndrome
Name: Kosaki overgrowth syndrome
OrphaCode: 477831
DisorderType: Malformation syndrome
Name: Luscan-Lumish syndrome
OrphaCode: 597738
DisorderType: Malformation syndrome
Name: Primary bone dysplasia with micromelia
OrphaCode: 364536
DisorderType: Category
Children: Name: Achondroplasia
OrphaCode: 15
DisorderType: Disease
Name: Hypochondroplasia
OrphaCode: 429
DisorderType: Disease
Name: Diastrophic dysplasia
OrphaCode: 628
DisorderType: Disease
Name: Thanatophoric dysplasia
OrphaCode: 2655
DisorderType: Disease
Children: Name: Thanatophoric dysplasia type 1
OrphaCode: 1860
DisorderType: Clinical subtype
Name: Thanatophoric dysplasia type 2
OrphaCode: 93274
DisorderType: Clinical subtype
Name: Chondrodysplasia-difference of sex development syndrome
OrphaCode: 1422
DisorderType: Malformation syndrome
Name: Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
OrphaCode: 85165
DisorderType: Disease
Name: Otopalatodigital syndrome spectrum disorder
OrphaCode: 364541
DisorderType: Clinical group
Children: Name: Otopalatodigital syndrome type 2
OrphaCode: 90652
DisorderType: Malformation syndrome
Name: Frontometaphyseal dysplasia
OrphaCode: 1826
DisorderType: Disease
Name: Melnick-Needles syndrome
OrphaCode: 2484
DisorderType: Malformation syndrome
Name: Otopalatodigital syndrome type 1
OrphaCode: 90650
DisorderType: Malformation syndrome
Name: Frank-Ter Haar syndrome
OrphaCode: 137834
DisorderType: Disease
Name: Short stature-advanced bone age-early-onset osteoarthritis syndrome
OrphaCode: 435804
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
OrphaCode: 253
DisorderType: Clinical group
Children: Name: Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type
OrphaCode: 642099
DisorderType: Disease
Name: MGP-related spondyloepiphyseal dysplasia
OrphaCode: 664377
DisorderType: Malformation syndrome
Name: Hip dysplasia, Beukes type
OrphaCode: 2114
DisorderType: Disease
Name: Schwartz-Jampel syndrome
OrphaCode: 800
DisorderType: Disease
Name: Dyggve-Melchior-Clausen disease
OrphaCode: 239
DisorderType: Disease
Name: Marshall syndrome
OrphaCode: 560
DisorderType: Malformation syndrome
Name: Metatropic dysplasia
OrphaCode: 2635
DisorderType: Disease
Name: Stickler syndrome
OrphaCode: 828
DisorderType: Disease
Children: Name: Stickler syndrome type 1
OrphaCode: 90653
DisorderType: Clinical subtype
Name: Stickler syndrome type 2
OrphaCode: 90654
DisorderType: Clinical subtype
Name: Autosomal recessive Stickler syndrome
OrphaCode: 250984
DisorderType: Clinical subtype
Name: Progressive pseudorheumatoid arthropathy of childhood
OrphaCode: 1159
DisorderType: Disease
Name: Otospondylomegaepiphyseal dysplasia
OrphaCode: 1427
DisorderType: Disease
Name: Wolcott-Rallison syndrome
OrphaCode: 1667
DisorderType: Disease
Name: Schimke immuno-osseous dysplasia
OrphaCode: 1830
DisorderType: Disease
Name: Dyssegmental dysplasia, Silverman-Handmaker type
OrphaCode: 1865
DisorderType: Disease
Name: Kniest dysplasia
OrphaCode: 485
DisorderType: Disease
Name: Richieri Costa-da Silva syndrome
OrphaCode: 3101
DisorderType: Malformation syndrome
Name: Spondyloperipheral dysplasia-short ulna syndrome
OrphaCode: 1856
DisorderType: Disease
Name: Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
OrphaCode: 83629
DisorderType: Disease
Name: Brachydactylous dwarfism, Mseleni type
OrphaCode: 2619
DisorderType: Disease
Name: Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
OrphaCode: 93279
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, PAPSS2 type
OrphaCode: 93282
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia, Kimberley type
OrphaCode: 93283
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia tarda
OrphaCode: 93284
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia congenita, Strudwick type
OrphaCode: 93346
DisorderType: Disease
Name: Anauxetic dysplasia
OrphaCode: 93347
DisorderType: Disease
Name: X-linked spondyloepimetaphyseal dysplasia
OrphaCode: 93349
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, Irapa type
OrphaCode: 93351
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, Shohat type
OrphaCode: 93352
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, Missouri type
OrphaCode: 93356
DisorderType: Disease
Name: SPONASTRIME dysplasia
OrphaCode: 93357
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
OrphaCode: 93358
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
OrphaCode: 93360
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia congenita
OrphaCode: 94068
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, Handigodu type
OrphaCode: 99642
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia with metatarsal shortening
OrphaCode: 137678
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, matrilin-3 type
OrphaCode: 156728
DisorderType: Disease
Name: Dyssegmental dysplasia, Rolland-Desbuquois type
OrphaCode: 156731
DisorderType: Disease
Name: SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 157965
DisorderType: Clinical subtype
Name: Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
OrphaCode: 163649
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
OrphaCode: 163654
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia, Reardon type
OrphaCode: 163662
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia tarda, Kohn type
OrphaCode: 163665
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia, MacDermot type
OrphaCode: 163668
DisorderType: Malformation syndrome
Name: Autosomal dominant otospondylomegaepiphyseal dysplasia
OrphaCode: 166100
DisorderType: Malformation syndrome
Name: Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
OrphaCode: 168443
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
OrphaCode: 168451
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, Geneviève type
OrphaCode: 168454
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, aggrecan type
OrphaCode: 171866
DisorderType: Disease
Name: Smith-McCort dysplasia
OrphaCode: 178355
DisorderType: Disease
Name: Spondylo-megaepiphyseal-metaphyseal dysplasia
OrphaCode: 228387
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, Maroteaux type
OrphaCode: 263482
DisorderType: Disease
Name: Roifman syndrome
OrphaCode: 353298
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
OrphaCode: 370015
DisorderType: Disease
Name: Cono-spondylar dysplasia
OrphaCode: 420794
DisorderType: Malformation syndrome
Name: Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
OrphaCode: 436174
DisorderType: Disease
Name: EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity
OrphaCode: 642085
DisorderType: Disease
Name: EVEN-plus syndrome
OrphaCode: 496751
DisorderType: Malformation syndrome
Name: Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
OrphaCode: 611207
DisorderType: Clinical syndrome
Name: CODAS syndrome
OrphaCode: 1458
DisorderType: Malformation syndrome
Name: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
OrphaCode: 457395
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
OrphaCode: 459070
DisorderType: Malformation syndrome
Name: Spondyloepiphyseal dysplasia, Stanescu type
OrphaCode: 459051
DisorderType: Disease
Name: Spondylometaphyseal dysplasia
OrphaCode: 254
DisorderType: Clinical group
Children: Name: Spondylometaphyseal dysplasia, A4 type
OrphaCode: 168555
DisorderType: Disease
Name: Regressive spondylometaphyseal dysplasia
OrphaCode: 448267
DisorderType: Malformation syndrome
Name: Spondyloenchondrodysplasia
OrphaCode: 1855
DisorderType: Malformation syndrome
Name: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
OrphaCode: 85167
DisorderType: Disease
Name: Spondylometaphyseal dysplasia, Kozlowski type
OrphaCode: 93314
DisorderType: Disease
Name: Spondylometaphyseal dysplasia, 'corner fracture' type
OrphaCode: 93315
DisorderType: Disease
Name: Spondylometaphyseal dysplasia, Schmidt type
OrphaCode: 93316
DisorderType: Disease
Name: Odontochondrodysplasia
OrphaCode: 166272
DisorderType: Malformation syndrome
Name: Spondylometaphyseal dysplasia, Golden type
OrphaCode: 168544
DisorderType: Disease
Name: Axial spondylometaphyseal dysplasia
OrphaCode: 168549
DisorderType: Disease
Name: Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
OrphaCode: 168552
DisorderType: Disease
Name: Spondylometaphyseal dysplasia-corneal dystrophy syndrome
OrphaCode: 589435
DisorderType: Malformation syndrome
Name: Ciliopathies with major skeletal involvement
OrphaCode: 93426
DisorderType: Category
Children: Name: Short rib-polydactyly syndrome
OrphaCode: 1505
DisorderType: Clinical group
Children: Name: Short rib-polydactyly syndrome type 5
OrphaCode: 498497
DisorderType: Malformation syndrome
Name: Jeune syndrome
OrphaCode: 474
DisorderType: Malformation syndrome
Name: Ellis Van Creveld syndrome
OrphaCode: 289
DisorderType: Malformation syndrome
Name: Cranioectodermal dysplasia
OrphaCode: 1515
DisorderType: Malformation syndrome
Name: Short rib-polydactyly syndrome, Beemer-Langer type
OrphaCode: 93268
DisorderType: Malformation syndrome
Name: Short rib-polydactyly syndrome, Majewski type
OrphaCode: 93269
DisorderType: Malformation syndrome
Name: Short rib-polydactyly syndrome, Saldino-Noonan type
OrphaCode: 93270
DisorderType: Malformation syndrome
Name: Short rib-polydactyly syndrome, Verma-Naumoff type
OrphaCode: 93271
DisorderType: Malformation syndrome
Name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
OrphaCode: 397715
DisorderType: Malformation syndrome
Name: Thoracomelic dysplasia
OrphaCode: 1803
DisorderType: Disease
Name: Orofaciodigital syndrome type 4
OrphaCode: 2753
DisorderType: Malformation syndrome
Name: Thoracolaryngopelvic dysplasia
OrphaCode: 3317
DisorderType: Malformation syndrome
Name: Saldino-Mainzer syndrome
OrphaCode: 140969
DisorderType: Disease
Name: NEK9-related lethal skeletal dysplasia
OrphaCode: 464366
DisorderType: Malformation syndrome
Name: Thoracic dysplasia-hydrocephalus syndrome
OrphaCode: 1861
DisorderType: Malformation syndrome
Name: Multiple epiphyseal dysplasia and pseudoachondroplasia
OrphaCode: 93429
DisorderType: Category
Children: Name: Multiple epiphyseal dysplasia
OrphaCode: 251
DisorderType: Clinical group
Children: Name: Multiple epiphyseal dysplasia type 4
OrphaCode: 93307
DisorderType: Disease
Name: Multiple epiphyseal dysplasia type 1
OrphaCode: 93308
DisorderType: Disease
Name: Multiple epiphyseal dysplasia type 5
OrphaCode: 93311
DisorderType: Disease
Name: Multiple epiphyseal dysplasia due to collagen 9 anomaly
OrphaCode: 166002
DisorderType: Disease
Name: Multiple epiphyseal dysplasia, Lowry type
OrphaCode: 166016
DisorderType: Disease
Name: Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome
OrphaCode: 166024
DisorderType: Disease
Name: Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome
OrphaCode: 166029
DisorderType: Disease
Name: Multiple epiphyseal dysplasia-miniepiphyses syndrome
OrphaCode: 166032
DisorderType: Disease
Name: Multiple epiphyseal dysplasia type 7
OrphaCode: 647676
DisorderType: Disease
Name: Lowry-Wood syndrome
OrphaCode: 1824
DisorderType: Disease
Name: Pseudoachondroplasia
OrphaCode: 750
DisorderType: Disease
Name: Autosomal recessive Stickler syndrome
OrphaCode: 250984
DisorderType: Clinical subtype
Name: Multiple metaphyseal dysplasia
OrphaCode: 93430
DisorderType: Clinical group
Children: Name: Metaphyseal anadysplasia
OrphaCode: 1040
DisorderType: Disease
Name: Metaphyseal chondrodysplasia, Schmid type
OrphaCode: 174
DisorderType: Disease
Name: Metaphyseal chondrodysplasia, Rosenberg type
OrphaCode: 1837
DisorderType: Disease
Name: Metaphyseal chondrodysplasia, Spahr type
OrphaCode: 2501
DisorderType: Disease
Name: Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
OrphaCode: 2502
DisorderType: Malformation syndrome
Name: Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
OrphaCode: 2504
DisorderType: Malformation syndrome
Name: Cartilage-hair hypoplasia
OrphaCode: 175
DisorderType: Disease
Name: Shwachman-Diamond syndrome
OrphaCode: 811
DisorderType: Disease
Name: Metaphyseal chondrodysplasia, Jansen type
OrphaCode: 33067
DisorderType: Disease
Name: Metaphyseal chondrodysplasia, Kaitila type
OrphaCode: 166038
DisorderType: Disease
Name: Eiken syndrome
OrphaCode: 79106
DisorderType: Malformation syndrome
Name: Spondylodysplastic dysplasia
OrphaCode: 93434
DisorderType: Clinical group
Children: Name: Opsismodysplasia
OrphaCode: 2746
DisorderType: Disease
Name: Achondrogenesis
OrphaCode: 932
DisorderType: Disease
Children: Name: Achondrogenesis type 2
OrphaCode: 93296
DisorderType: Clinical subtype
Name: Hypochondrogenesis
OrphaCode: 93297
DisorderType: Clinical subtype
Name: Achondrogenesis type 1B
OrphaCode: 93298
DisorderType: Clinical subtype
Name: Achondrogenesis type 1A
OrphaCode: 93299
DisorderType: Clinical subtype
Name: Brachyolmia
OrphaCode: 1293
DisorderType: Clinical group
Children: Name: Autosomal recessive brachyolmia
OrphaCode: 448242
DisorderType: Malformation syndrome
Name: Brachyolmia-amelogenesis imperfecta syndrome
OrphaCode: 2899
DisorderType: Malformation syndrome
Name: Brachyolmia, Maroteaux type
OrphaCode: 93302
DisorderType: Malformation syndrome
Name: Autosomal dominant brachyolmia
OrphaCode: 93304
DisorderType: Malformation syndrome
Name: X-linked skeletal dysplasia-intellectual disability syndrome
OrphaCode: 1436
DisorderType: Malformation syndrome
Name: Schneckenbecken dysplasia
OrphaCode: 3144
DisorderType: Malformation syndrome
Name: Spondylocamptodactyly syndrome
OrphaCode: 3180
DisorderType: Malformation syndrome
Name: Spondylocarpotarsal synostosis
OrphaCode: 3275
DisorderType: Malformation syndrome
Name: Diaphanospondylodysostosis
OrphaCode: 66637
DisorderType: Malformation syndrome
Name: Platyspondylic dysplasia, Torrance type
OrphaCode: 85166
DisorderType: Malformation syndrome
Name: Spondylometaphyseal dysplasia, Sedaghatian type
OrphaCode: 93317
DisorderType: Malformation syndrome
Name: Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type
OrphaCode: 401979
DisorderType: Malformation syndrome
Name: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
OrphaCode: 508533
DisorderType: Disease
Name: SBDS-related severe neonatal spondylometaphyseal dysplasia
OrphaCode: 622934
DisorderType: Malformation syndrome
Name: Acromelic dysplasia
OrphaCode: 93436
DisorderType: Clinical group
Children: Name: Short stature-brachydactyly-obesity-global developmental delay syndrome
OrphaCode: 464288
DisorderType: Malformation syndrome
Name: MIR140-related spondyloepiphyseal dysplasia
OrphaCode: 623695
DisorderType: Malformation syndrome
Name: Pseudohypoparathyroidism with Albright hereditary osteodystrophy
OrphaCode: 457059
DisorderType: Clinical group
Children: Name: Pseudohypoparathyroidism type 1A
OrphaCode: 79443
DisorderType: Disease
Name: Pseudohypoparathyroidism type 1C
OrphaCode: 79444
DisorderType: Disease
Name: Pseudopseudohypoparathyroidism
OrphaCode: 79445
DisorderType: Disease
Name: Acrodysostosis
OrphaCode: 950
DisorderType: Malformation syndrome
Name: Acromicric dysplasia
OrphaCode: 969
DisorderType: Malformation syndrome
Name: Geleophysic dysplasia
OrphaCode: 2623
DisorderType: Malformation syndrome
Name: Intellectual disability-balding-patella luxation-acromicria syndrome
OrphaCode: 3041
DisorderType: Malformation syndrome
Name: Angel-shaped phalango-epiphyseal dysplasia
OrphaCode: 63442
DisorderType: Malformation syndrome
Name: Acrocapitofemoral dysplasia
OrphaCode: 63446
DisorderType: Malformation syndrome
Name: Craniofacial conodysplasia
OrphaCode: 85168
DisorderType: Malformation syndrome
Name: Terminal osseous dysplasia-pigmentary defects syndrome
OrphaCode: 88630
DisorderType: Malformation syndrome
Name: Trichorhinophalangeal syndrome
OrphaCode: 324764
DisorderType: Clinical group
Children: Name: Trichorhinophalangeal syndrome type 2
OrphaCode: 502
DisorderType: Malformation syndrome
Name: Trichorhinophalangeal syndrome type 1
OrphaCode: 77258
DisorderType: Malformation syndrome
Name: Weill-Marchesani syndrome
OrphaCode: 3449
DisorderType: Malformation syndrome
Name: Myhre syndrome
OrphaCode: 2588
DisorderType: Malformation syndrome
Name: Acromesomelic dysplasia
OrphaCode: 93437
DisorderType: Clinical group
Children: Name: Acromesomelic dysplasia, Hunter-Thompson type
OrphaCode: 968
DisorderType: Malformation syndrome
Name: Acromesomelic dysplasia, Maroteaux type
OrphaCode: 40
DisorderType: Malformation syndrome
Name: Acromesomelic dysplasia, Grebe type
OrphaCode: 2098
DisorderType: Malformation syndrome
Name: Mesomelia-synostoses syndrome
OrphaCode: 2496
DisorderType: Malformation syndrome
Name: Fibular aplasia-complex brachydactyly syndrome
OrphaCode: 2639
DisorderType: Malformation syndrome
Name: Brachydactyly type A6
OrphaCode: 93382
DisorderType: Malformation syndrome
Name: Mesomelic and rhizo-mesomelic dysplasia
OrphaCode: 93438
DisorderType: Clinical group
Children: Name: Léri-Weill dyschondrosteosis
OrphaCode: 240
DisorderType: Malformation syndrome
Name: Cleidorhizomelic syndrome
OrphaCode: 1453
DisorderType: Malformation syndrome
Name: Mesomelic dysplasia, Kantaputra type
OrphaCode: 1836
DisorderType: Malformation syndrome
Name: Fibrochondrogenesis
OrphaCode: 2021
DisorderType: Disease
Name: Upper limb mesomelic dysplasia, type Fryns
OrphaCode: 2497
DisorderType: Malformation syndrome
Name: Mesomelic dwarfism-cleft palate-camptodactyly syndrome
OrphaCode: 2631
DisorderType: Malformation syndrome
Name: Langer mesomelic dysplasia
OrphaCode: 2632
DisorderType: Malformation syndrome
Name: Mesomelic dysplasia, Nievergelt type
OrphaCode: 2633
DisorderType: Malformation syndrome
Name: Mesomelic dwarfism, Reinhardt-Pfeiffer type
OrphaCode: 2634
DisorderType: Malformation syndrome
Name: Omodysplasia
OrphaCode: 2733
DisorderType: Malformation syndrome
Children: Name: Autosomal dominant omodysplasia
OrphaCode: 93328
DisorderType: Clinical subtype
Name: Autosomal recessive omodysplasia
OrphaCode: 93329
DisorderType: Clinical subtype
Name: Rhizomelic syndrome, Urbach type
OrphaCode: 3098
DisorderType: Malformation syndrome
Name: Rhizomelic dysplasia, Patterson-Lowry type
OrphaCode: 2831
DisorderType: Malformation syndrome
Name: Atelosteogenesis type II
OrphaCode: 56304
DisorderType: Malformation syndrome
Name: Mesomelic dysplasia, Savarirayan type
OrphaCode: 85170
DisorderType: Malformation syndrome
Name: Robinow syndrome
OrphaCode: 97360
DisorderType: Malformation syndrome
Children: Name: Autosomal recessive Robinow syndrome
OrphaCode: 1507
DisorderType: Clinical subtype
Name: Autosomal dominant Robinow syndrome
OrphaCode: 3107
DisorderType: Clinical subtype
Name: SHOX-related short stature
OrphaCode: 314795
DisorderType: Disease
Name: Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
OrphaCode: 397623
DisorderType: Malformation syndrome
Name: Colobomatous microphthalmia-rhizomelic dysplasia syndrome
OrphaCode: 424099
DisorderType: Malformation syndrome
Name: Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
OrphaCode: 440354
DisorderType: Malformation syndrome
Name: X-linked dominant chondrodysplasia, Chassaing-Lacombe type
OrphaCode: 163966
DisorderType: Disease
Name: EN1-related dorsoventral syndrome
OrphaCode: 611223
DisorderType: Malformation syndrome
Name: QRICH1-related intellectual disability-chondrodysplasia syndrome
OrphaCode: 580940
DisorderType: Malformation syndrome
Name: Mesomelic dysplasia-digital anomalies-intellectual disability syndrome
OrphaCode: 632603
DisorderType: Malformation syndrome
Name: Campomelic dysplasia and related disorders
OrphaCode: 93439
DisorderType: Clinical group
Children: Name: Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency
OrphaCode: 656283
DisorderType: Disease
Name: Campomelic dysplasia
OrphaCode: 140
DisorderType: Malformation syndrome
Name: Campomelia, Cumming type
OrphaCode: 1318
DisorderType: Malformation syndrome
Name: Kyphomelic dysplasia
OrphaCode: 1801
DisorderType: Malformation syndrome
Name: Blount disease
OrphaCode: 2768
DisorderType: Malformation syndrome
Name: Weismann-Netter syndrome
OrphaCode: 3344
DisorderType: Malformation syndrome
Name: Stüve-Wiedemann syndrome
OrphaCode: 3206
DisorderType: Malformation syndrome
Name: FGFR2-related bent bone dysplasia
OrphaCode: 313855
DisorderType: Disease
Name: Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome
OrphaCode: 324307
DisorderType: Malformation syndrome
Name: Slender bone dysplasia
OrphaCode: 93440
DisorderType: Clinical group
Children: Name: Kenny-Caffey syndrome
OrphaCode: 2333
DisorderType: Malformation syndrome
Children: Name: Autosomal recessive Kenny-Caffey syndrome
OrphaCode: 93324
DisorderType: Etiological subtype
Name: Autosomal dominant Kenny-Caffey syndrome
OrphaCode: 93325
DisorderType: Etiological subtype
Name: 3M syndrome
OrphaCode: 2616
DisorderType: Malformation syndrome
Name: Osteocraniostenosis
OrphaCode: 2763
DisorderType: Malformation syndrome
Name: IMAGe syndrome
OrphaCode: 85173
DisorderType: Malformation syndrome
Name: Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
OrphaCode: 314394
DisorderType: Disease
Name: Ear-patella-short stature syndrome
OrphaCode: 2554
DisorderType: Malformation syndrome
Name: Thin ribs-tubular bones-dysmorphism syndrome
OrphaCode: 1506
DisorderType: Malformation syndrome
Name: Hallermann-Streiff syndrome
OrphaCode: 2108
DisorderType: Malformation syndrome
Name: Seckel syndrome
OrphaCode: 808
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism, Toriello type
OrphaCode: 2643
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic primordial dwarfism type II
OrphaCode: 2637
DisorderType: Malformation syndrome
Name: Lipodystrophy-intellectual disability-deafness syndrome
OrphaCode: 50811
DisorderType: Disease
Name: Microcephalic osteodysplastic primordial dwarfism types I and III
OrphaCode: 2636
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic dysplasia, Saul-Wilson type
OrphaCode: 85172
DisorderType: Disease
Name: Hallermann-Streiff-like syndrome
OrphaCode: 2109
DisorderType: Malformation syndrome
Name: DONSON-related microcephaly-short stature-limb abnormalities spectrum
OrphaCode: 572761
DisorderType: Malformation syndrome
Children: Name: Microcephaly-micromelia syndrome
OrphaCode: 572768
DisorderType: Clinical subtype
Name: Microcephaly-short stature-limb abnormalities syndrome
OrphaCode: 572773
DisorderType: Clinical subtype
Name: Primary bone dysplasia with multiple joint dislocations
OrphaCode: 93441
DisorderType: Clinical group
Children: Name: Larsen-like osseous dysplasia-short stature syndrome
OrphaCode: 2370
DisorderType: Malformation syndrome
Name: Atelosteogenesis type I
OrphaCode: 1190
DisorderType: Malformation syndrome
Name: Auriculoosteodysplasia
OrphaCode: 114
DisorderType: Malformation syndrome
Name: Boomerang dysplasia
OrphaCode: 1263
DisorderType: Disease
Name: Desbuquois syndrome
OrphaCode: 1425
DisorderType: Malformation syndrome
Name: Coxoauricular syndrome
OrphaCode: 1508
DisorderType: Malformation syndrome
Name: Lethal Larsen-like syndrome
OrphaCode: 2371
DisorderType: Malformation syndrome
Name: Larsen syndrome
OrphaCode: 503
DisorderType: Malformation syndrome
Name: Atelosteogenesis type III
OrphaCode: 56305
DisorderType: Malformation syndrome
Name: Pseudodiastrophic dysplasia
OrphaCode: 85174
DisorderType: Malformation syndrome
Name: CHST3-related skeletal dysplasia
OrphaCode: 263463
DisorderType: Disease
Name: Chondrodysplasia with joint dislocations, gPAPP type
OrphaCode: 280586
DisorderType: Malformation syndrome
Name: Larsen-like syndrome, B3GAT3 type
OrphaCode: 284139
DisorderType: Malformation syndrome
Name: Steel syndrome
OrphaCode: 438117
DisorderType: Disease
Name: Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
OrphaCode: 93360
DisorderType: Disease
Name: Severe myopia-generalized joint laxity-short stature syndrome
OrphaCode: 527450
DisorderType: Malformation syndrome
Name: Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
OrphaCode: 589442
DisorderType: Malformation syndrome
Name: Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type
OrphaCode: 642099
DisorderType: Disease
Name: EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity
OrphaCode: 642085
DisorderType: Disease
Name: Chondrodysplasia punctata
OrphaCode: 93442
DisorderType: Clinical group
Children: Name: Greenberg dysplasia
OrphaCode: 1426
DisorderType: Disease
Name: CHILD syndrome
OrphaCode: 139
DisorderType: Disease
Name: Rhizomelic chondrodysplasia punctata
OrphaCode: 177
DisorderType: Disease
Children: Name: Rhizomelic chondrodysplasia punctata type 3
OrphaCode: 309803
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 1
OrphaCode: 309789
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 2
OrphaCode: 309796
DisorderType: Etiological subtype
Name: Rhizomelic chondrodysplasia punctata type 5
OrphaCode: 468717
DisorderType: Etiological subtype
Name: Non-rhizomelic chondrodysplasia punctata
OrphaCode: 176
DisorderType: Clinical group
Children: Name: X-linked dominant chondrodysplasia punctata
OrphaCode: 35173
DisorderType: Disease
Name: Brachytelephalangic chondrodysplasia punctata
OrphaCode: 79345
DisorderType: Malformation syndrome
Name: Chondrodysplasia punctata, tibial-metacarpal type
OrphaCode: 79346
DisorderType: Malformation syndrome
Name: Chondrodysplasia punctata, Toriello type
OrphaCode: 79347
DisorderType: Malformation syndrome
Name: Astley-Kendall dysplasia
OrphaCode: 85175
DisorderType: Malformation syndrome
Name: Keutel syndrome
OrphaCode: 85202
DisorderType: Malformation syndrome
Name: Primary bone dysplasia with increased bone density
OrphaCode: 93444
DisorderType: Category
Children: Name: Juvenile Paget disease
OrphaCode: 2801
DisorderType: Malformation syndrome
Name: Camurati-Engelmann disease
OrphaCode: 1328
DisorderType: Malformation syndrome
Name: Craniodiaphyseal dysplasia
OrphaCode: 1513
DisorderType: Malformation syndrome
Name: Craniometaphyseal dysplasia
OrphaCode: 1522
DisorderType: Malformation syndrome
Name: Craniofacial dysostosis-diaphyseal hyperplasia syndrome
OrphaCode: 1798
DisorderType: Malformation syndrome
Name: Ghosal hematodiaphyseal dysplasia
OrphaCode: 1802
DisorderType: Malformation syndrome
Name: Lenz-Majewski hyperostotic dwarfism
OrphaCode: 2658
DisorderType: Malformation syndrome
Name: Oculodentodigital dysplasia
OrphaCode: 2710
DisorderType: Malformation syndrome
Name: Osteopathia striata-pigmentary dermopathy-white forelock syndrome
OrphaCode: 2779
DisorderType: Malformation syndrome
Name: Endosteal hyperostosis, Worth type
OrphaCode: 2790
DisorderType: Malformation syndrome
Name: Pyle disease
OrphaCode: 3005
DisorderType: Disease
Name: Sclerosteosis
OrphaCode: 3152
DisorderType: Malformation syndrome
Name: Tricho-dento-osseous syndrome
OrphaCode: 3352
DisorderType: Malformation syndrome
Name: Hyperostosis corticalis generalisata
OrphaCode: 3416
DisorderType: Malformation syndrome
Name: Dysplastic cortical hyperostosis
OrphaCode: 646139
DisorderType: Malformation syndrome
Children: Name: Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
OrphaCode: 2204
DisorderType: Clinical subtype
Name: Dysplastic cortical hyperostosis, Al-Gazali type
OrphaCode: 646136
DisorderType: Clinical subtype
Name: Osteopetrosis and related disorders
OrphaCode: 2781
DisorderType: Clinical group
Children: Name: 12q14 microdeletion syndrome
OrphaCode: 94063
DisorderType: Malformation syndrome
Name: Isolated osteopoikilosis
OrphaCode: 166119
DisorderType: Disease
Name: Osteopetrosis-hypogammaglobulinemia syndrome
OrphaCode: 178389
DisorderType: Disease
Name: Intermediate osteopetrosis
OrphaCode: 210110
DisorderType: Malformation syndrome
Name: Albers-Schönberg osteopetrosis
OrphaCode: 53
DisorderType: Malformation syndrome
Name: Osteopetrosis with renal tubular acidosis
OrphaCode: 2785
DisorderType: Disease
Name: Pycnodysostosis
OrphaCode: 763
DisorderType: Disease
Name: Dysosteosclerosis
OrphaCode: 1782
DisorderType: Malformation syndrome
Name: Melorheostosis with osteopoikilosis
OrphaCode: 1879
DisorderType: Malformation syndrome
Name: Melorheostosis
OrphaCode: 2485
DisorderType: Malformation syndrome
Name: Osteomesopyknosis
OrphaCode: 2777
DisorderType: Malformation syndrome
Name: Osteopathia striata-cranial sclerosis syndrome
OrphaCode: 2780
DisorderType: Malformation syndrome
Name: Autosomal recessive malignant osteopetrosis
OrphaCode: 667
DisorderType: Malformation syndrome
Name: Autosomal dominant osteopetrosis type 1
OrphaCode: 2783
DisorderType: Malformation syndrome
Name: Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
OrphaCode: 69088
DisorderType: Disease
Name: Infantile osteopetrosis with neuroaxonal dysplasia
OrphaCode: 85179
DisorderType: Malformation syndrome
Name: Leukocyte adhesion deficiency type III
OrphaCode: 99844
DisorderType: Clinical subtype
Name: Osteosclerotic metaphyseal dysplasia
OrphaCode: 500548
DisorderType: Malformation syndrome
Name: Early-onset calcifying leukoencephalopathy-skeletal dysplasia
OrphaCode: 556985
DisorderType: Disease
Name: Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
OrphaCode: 603494
DisorderType: Malformation syndrome
Name: Osteosclerosis-ichthyosis-premature ovarian failure syndrome
OrphaCode: 75325
DisorderType: Disease
Name: Diaphyseal medullary stenosis-bone malignancy syndrome
OrphaCode: 85182
DisorderType: Disease
Name: Craniometadiaphyseal dysplasia, wormian bone type
OrphaCode: 85184
DisorderType: Malformation syndrome
Name: Endosteal sclerosis-cerebellar hypoplasia syndrome
OrphaCode: 85186
DisorderType: Malformation syndrome
Name: Metaphyseal dysplasia, Braun-Tinschert type
OrphaCode: 85188
DisorderType: Malformation syndrome
Name: Neonatal osteosclerotic dysplasia
OrphaCode: 93443
DisorderType: Clinical group
Children: Name: Caffey disease
OrphaCode: 1310
DisorderType: Malformation syndrome
Name: Osteosclerotic bone dysplasia
OrphaCode: 1832
DisorderType: Malformation syndrome
Name: Desmosterolosis
OrphaCode: 35107
DisorderType: Disease
Name: Blomstrand lethal chondrodysplasia
OrphaCode: 50945
DisorderType: Malformation syndrome
Name: Primary hypertrophic osteoarthropathy
OrphaCode: 248095
DisorderType: Clinical group
Children: Name: Cranio-osteoarthropathy
OrphaCode: 1525
DisorderType: Malformation syndrome
Name: Pachydermoperiostosis
OrphaCode: 2796
DisorderType: Malformation syndrome
Name: High bone mass osteogenesis imperfecta
OrphaCode: 314029
DisorderType: Disease
Name: Mixed sclerosing bone dystrophy with extra-skeletal manifestations
OrphaCode: 324364
DisorderType: Disease
Name: X-linked calvarial hyperostosis
OrphaCode: 391327
DisorderType: Disease
Name: Hyperostosis cranialis interna
OrphaCode: 443098
DisorderType: Disease
Name: Primary bone dysplasia with decreased bone density
OrphaCode: 93446
DisorderType: Category
Children: Name: Bruck syndrome
OrphaCode: 2771
DisorderType: Malformation syndrome
Name: Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
OrphaCode: 2772
DisorderType: Malformation syndrome
Name: Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
OrphaCode: 2773
DisorderType: Malformation syndrome
Name: Osteogenesis imperfecta
OrphaCode: 666
DisorderType: Disease
Children: Name: Osteogenesis imperfecta type 1
OrphaCode: 216796
DisorderType: Clinical subtype
Name: Osteogenesis imperfecta type 2
OrphaCode: 216804
DisorderType: Clinical subtype
Name: Osteogenesis imperfecta type 3
OrphaCode: 216812
DisorderType: Clinical subtype
Name: Osteogenesis imperfecta type 4
OrphaCode: 216820
DisorderType: Clinical subtype
Name: Osteogenesis imperfecta type 5
OrphaCode: 216828
DisorderType: Clinical subtype
Name: Cole-Carpenter syndrome
OrphaCode: 2050
DisorderType: Malformation syndrome
Name: Geroderma osteodysplastica
OrphaCode: 2078
DisorderType: Malformation syndrome
Name: Grant syndrome
OrphaCode: 2097
DisorderType: Malformation syndrome
Name: Osteopenia-intellectual disability-sparse hair syndrome
OrphaCode: 2324
DisorderType: Malformation syndrome
Name: Osteoporosis-oculocutaneous hypopigmentation syndrome
OrphaCode: 2786
DisorderType: Malformation syndrome
Name: Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
OrphaCode: 2787
DisorderType: Malformation syndrome
Name: Osteoporosis-pseudoglioma syndrome
OrphaCode: 2788
DisorderType: Disease
Name: Complex lethal osteochondrodysplasia
OrphaCode: 457378
DisorderType: Malformation syndrome
Name: Gnathodiaphyseal dysplasia
OrphaCode: 53697
DisorderType: Malformation syndrome
Name: Singleton-Merten dysplasia
OrphaCode: 85191
DisorderType: Malformation syndrome
Name: Calvarial doughnut lesions-bone fragility syndrome
OrphaCode: 85192
DisorderType: Malformation syndrome
Name: Idiopathic juvenile osteoporosis
OrphaCode: 85193
DisorderType: Malformation syndrome
Name: Spondylo-ocular syndrome
OrphaCode: 85194
DisorderType: Malformation syndrome
Name: Autosomal recessive cutis laxa type 2
OrphaCode: 90350
DisorderType: Clinical group
Children: Name: Autosomal recessive cutis laxa type 2A
OrphaCode: 357058
DisorderType: Disease
Children: Name: Wrinkly skin syndrome
OrphaCode: 2834
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2, classic type
OrphaCode: 357074
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2B
OrphaCode: 357064
DisorderType: Disease
Name: Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
OrphaCode: 166277
DisorderType: Malformation syndrome
Name: Ehlers-Danlos/osteogenesis imperfecta syndrome
OrphaCode: 230857
DisorderType: Disease
Name: TMEM165-CDG
OrphaCode: 314667
DisorderType: Disease
Name: Chondroectodermal dysplasia with night blindness
OrphaCode: 319195
DisorderType: Disease
Name: X-linked osteoporosis with fractures
OrphaCode: 391330
DisorderType: Disease
Name: LRP5-related primary osteoporosis
OrphaCode: 498481
DisorderType: Malformation syndrome
Name: B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 536467
DisorderType: Clinical subtype
Name: Classical-like Ehlers-Danlos syndrome type 2
OrphaCode: 536532
DisorderType: Disease
Name: Primary bone dysplasia with defective bone mineralization
OrphaCode: 93447
DisorderType: Category
Children: Name: Oculoskeletodental syndrome
OrphaCode: 557003
DisorderType: Disease
Name: Hypophosphatasia
OrphaCode: 436
DisorderType: Disease
Children: Name: Perinatal lethal hypophosphatasia
OrphaCode: 247623
DisorderType: Clinical subtype
Name: Prenatal benign hypophosphatasia
OrphaCode: 247638
DisorderType: Clinical subtype
Name: Infantile hypophosphatasia
OrphaCode: 247651
DisorderType: Clinical subtype
Name: Childhood-onset hypophosphatasia
OrphaCode: 247667
DisorderType: Clinical subtype
Name: Adult hypophosphatasia
OrphaCode: 247676
DisorderType: Clinical subtype
Name: Odontohypophosphatasia
OrphaCode: 247685
DisorderType: Clinical subtype
Name: Neonatal severe primary hyperparathyroidism
OrphaCode: 417
DisorderType: Disease
Name: Familial hypocalciuric hypercalcemia
OrphaCode: 405
DisorderType: Disease
Children: Name: Familial hypocalciuric hypercalcemia type 1
OrphaCode: 93372
DisorderType: Etiological subtype
Name: Familial hypocalciuric hypercalcemia type 2
OrphaCode: 101049
DisorderType: Etiological subtype
Name: Familial hypocalciuric hypercalcemia type 3
OrphaCode: 101050
DisorderType: Etiological subtype
Name: Lipodystrophy-intellectual disability-deafness syndrome
OrphaCode: 50811
DisorderType: Disease
Name: Ossification anomalies-psychomotor developmental delay syndrome
OrphaCode: 73230
DisorderType: Disease
Name: Eiken syndrome
OrphaCode: 79106
DisorderType: Malformation syndrome
Name: Disorders of vitamin D metabolism
OrphaCode: 289098
DisorderType: Category
Children: Name: Hypophosphatemic rickets
OrphaCode: 437
DisorderType: Clinical group
Children: Name: Dent disease
OrphaCode: 1652
DisorderType: Disease
Children: Name: Dent disease type 1
OrphaCode: 93622
DisorderType: Clinical subtype
Name: Dent disease type 2
OrphaCode: 93623
DisorderType: Clinical subtype
Name: Cystinosis
OrphaCode: 213
DisorderType: Disease
Children: Name: Infantile nephropathic cystinosis
OrphaCode: 411629
DisorderType: Clinical subtype
Name: Juvenile nephropathic cystinosis
OrphaCode: 411634
DisorderType: Clinical subtype
Name: Ocular cystinosis
OrphaCode: 411641
DisorderType: Clinical subtype
Name: Dominant hypophosphatemia with nephrolithiasis or osteoporosis
OrphaCode: 244305
DisorderType: Disease
Name: X-linked hypophosphatemia
OrphaCode: 89936
DisorderType: Disease
Name: Autosomal dominant hypophosphatemic rickets
OrphaCode: 89937
DisorderType: Disease
Name: Hereditary hypophosphatemic rickets with hypercalciuria
OrphaCode: 157215
DisorderType: Disease
Name: Autosomal recessive hypophosphatemic rickets
OrphaCode: 289176
DisorderType: Disease
Name: Hypocalcemic rickets
OrphaCode: 289103
DisorderType: Clinical group
Children: Name: Hypocalcemic vitamin D-resistant rickets
OrphaCode: 93160
DisorderType: Disease
Name: Hypocalcemic vitamin D-dependent rickets
OrphaCode: 289157
DisorderType: Disease
Name: Familial calcium pyrophosphate deposition
OrphaCode: 1416
DisorderType: Disease
Name: Primary osteolysis
OrphaCode: 93449
DisorderType: Category
Children: Name: Mandibuloacral dysplasia associated to MTX2
OrphaCode: 647667
DisorderType: Malformation syndrome
Name: Hyaline fibromatosis syndrome
OrphaCode: 498474
DisorderType: Disease
Children: Name: Juvenile hyaline fibromatosis
OrphaCode: 2028
DisorderType: Clinical subtype
Name: Infantile systemic hyalinosis
OrphaCode: 2176
DisorderType: Clinical subtype
Name: Hajdu-Cheney syndrome
OrphaCode: 955
DisorderType: Malformation syndrome
Name: Epiphyseal stippling-osteoclastic hyperplasia syndrome
OrphaCode: 1952
DisorderType: Malformation syndrome
Name: Mandibuloacral dysplasia
OrphaCode: 2457
DisorderType: Malformation syndrome
Children: Name: Mandibuloacral dysplasia with type A lipodystrophy
OrphaCode: 90153
DisorderType: Clinical subtype
Name: Mandibuloacral dysplasia with type B lipodystrophy
OrphaCode: 90154
DisorderType: Clinical subtype
Name: Multicentric carpo-tarsal osteolysis with or without nephropathy
OrphaCode: 2774
DisorderType: Malformation syndrome
Name: Autosomal recessive distal osteolysis syndrome
OrphaCode: 2776
DisorderType: Malformation syndrome
Name: Hutchinson-Gilford progeria syndrome
OrphaCode: 740
DisorderType: Disease
Name: Talo-patello-scaphoid osteolysis
OrphaCode: 50809
DisorderType: Malformation syndrome
Name: Familial expansile osteolysis
OrphaCode: 85195
DisorderType: Disease
Name: Nestor-Guillermo progeria syndrome
OrphaCode: 280576
DisorderType: Malformation syndrome
Name: Phalangeal microgeodic syndrome
OrphaCode: 352636
DisorderType: Disease
Name: Multicentric osteolysis-nodulosis-arthropathy spectrum
OrphaCode: 371428
DisorderType: Disease
Name: Primary bone dysplasia with disorganized development of skeletal components
OrphaCode: 93450
DisorderType: Category
Children: Name: Gorham-Stout disease
OrphaCode: 73
DisorderType: Malformation syndrome
Name: Neurofibromatosis type 1
OrphaCode: 636
DisorderType: Disease
Children: Name: 17q11 microdeletion syndrome
OrphaCode: 97685
DisorderType: Clinical subtype
Name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
OrphaCode: 363700
DisorderType: Etiological subtype
Name: Fibrodysplasia ossificans progressiva
OrphaCode: 337
DisorderType: Disease
Name: Progressive osseous heteroplasia
OrphaCode: 2762
DisorderType: Malformation syndrome
Name: Fibrous dysplasia/McCune-Albright syndrome
OrphaCode: 595216
DisorderType: Clinical group
Children: Name: McCune-Albright syndrome
OrphaCode: 562
DisorderType: Disease
Name: Fibrous dysplasia of bone
OrphaCode: 249
DisorderType: Malformation syndrome
Children: Name: Monostotic fibrous dysplasia
OrphaCode: 93277
DisorderType: Clinical subtype
Name: Polyostotic fibrous dysplasia
OrphaCode: 93276
DisorderType: Clinical subtype
Name: Cherubism
OrphaCode: 184
DisorderType: Malformation syndrome
Name: Dysplasia epiphysealis hemimelica
OrphaCode: 1822
DisorderType: Malformation syndrome
Name: Exostoses-anetodermia-brachydactyly type E syndrome
OrphaCode: 1962
DisorderType: Malformation syndrome
Name: Ollier disease
OrphaCode: 296
DisorderType: Disease
Name: Metachondromatosis
OrphaCode: 2499
DisorderType: Malformation syndrome
Name: Osteoglosphonic dysplasia
OrphaCode: 2645
DisorderType: Malformation syndrome
Name: Carpotarsal osteochondromatosis
OrphaCode: 2767
DisorderType: Malformation syndrome
Name: Short stature, Brussels type
OrphaCode: 2867
DisorderType: Malformation syndrome
Name: Ramon syndrome
OrphaCode: 3019
DisorderType: Malformation syndrome
Name: Upington disease
OrphaCode: 3408
DisorderType: Malformation syndrome
Name: Nasu-Hakola disease
OrphaCode: 2770
DisorderType: Malformation syndrome
Name: Multiple osteochondromas
OrphaCode: 321
DisorderType: Disease
Name: Gnathodiaphyseal dysplasia
OrphaCode: 53697
DisorderType: Malformation syndrome
Name: Mazabraud syndrome
OrphaCode: 57782
DisorderType: Malformation syndrome
Name: Genochondromatosis type 1
OrphaCode: 85197
DisorderType: Disease
Name: Dysspondyloenchondromatosis
OrphaCode: 85198
DisorderType: Malformation syndrome
Name: Genochondromatosis type 2
OrphaCode: 93398
DisorderType: Disease
Name: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
OrphaCode: 99646
DisorderType: Disease
Name: Osteofibrous dysplasia
OrphaCode: 488265
DisorderType: Disease
Name: Maffucci syndrome
OrphaCode: 163634
DisorderType: Disease
Name: Cleidocranial dysplasia and isolated cranial ossification defect
OrphaCode: 93451
DisorderType: Category
Children: Name: Parietal foramina with clavicular hypoplasia
OrphaCode: 251290
DisorderType: Malformation syndrome
Name: Cleidocranial dysplasia
OrphaCode: 1452
DisorderType: Malformation syndrome
Name: Delayed membranous cranial ossification
OrphaCode: 3034
DisorderType: Malformation syndrome
Name: Yunis-Varon syndrome
OrphaCode: 3472
DisorderType: Malformation syndrome
Name: Enlarged parietal foramina
OrphaCode: 60015
DisorderType: Malformation syndrome
Name: Craniosynostosis-anal anomalies-porokeratosis syndrome
OrphaCode: 85199
DisorderType: Malformation syndrome
Name: Lethal chondrodysplasia
OrphaCode: 93465
DisorderType: Category
Children: Name: Bone dysplasia, lethal Holmgren type
OrphaCode: 1842
DisorderType: Malformation syndrome
Name: Lethal Kniest-like dysplasia
OrphaCode: 2347
DisorderType: Malformation syndrome
Name: Pyknoachondrogenesis
OrphaCode: 3003
DisorderType: Malformation syndrome
Name: Lethal recessive chondrodysplasia
OrphaCode: 1423
DisorderType: Malformation syndrome
Name: Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
OrphaCode: 364531
DisorderType: Category
Children: Name: Fibrodysplasia ossificans progressiva
OrphaCode: 337
DisorderType: Disease
Name: Progressive osseous heteroplasia
OrphaCode: 2762
DisorderType: Malformation syndrome
Name: Dysostosis
OrphaCode: 364559
DisorderType: Category
Children: Name: Craniosynostosis
OrphaCode: 1531
DisorderType: Category
Children: Name: Non-syndromic craniosynostosis
OrphaCode: 139390
DisorderType: Clinical group
Children: Name: Non-syndromic unisutural craniosynostosis
OrphaCode: 620096
DisorderType: Clinical group
Children: Name: Non-syndromic unicoronal craniosynostosis
OrphaCode: 620102
DisorderType: Morphological anomaly
Name: Non-syndromic unilambdoid craniosynostosis
OrphaCode: 620113
DisorderType: Morphological anomaly
Name: Non-syndromic unifrontosphenoidal craniosynostosis
OrphaCode: 620139
DisorderType: Morphological anomaly
Name: Non-syndromic unisquamosal craniosynostosis
OrphaCode: 620146
DisorderType: Morphological anomaly
Name: Non-syndromic metopic craniosynostosis
OrphaCode: 3366
DisorderType: Morphological anomaly
Name: Non-syndromic sagittal craniosynostosis
OrphaCode: 35093
DisorderType: Morphological anomaly
Name: Non-syndromic multisutural craniosynostosis
OrphaCode: 620152
DisorderType: Clinical group
Children: Name: Non-syndromic non-specific multisutural craniosynostosis
OrphaCode: 620158
DisorderType: Morphological anomaly
Name: Non-syndromic bilambdoid craniosynostosis
OrphaCode: 620178
DisorderType: Morphological anomaly
Name: Non-syndromic unicoronal and sagittal craniosynostosis
OrphaCode: 620186
DisorderType: Morphological anomaly
Name: Non-syndromic metopic and sagittal craniosynostosis
OrphaCode: 620192
DisorderType: Morphological anomaly
Name: Non-syndromic bicoronal and metopic craniosynostosis
OrphaCode: 620198
DisorderType: Morphological anomaly
Name: Non-syndromic bicoronal and sagittal craniosynostosis
OrphaCode: 620205
DisorderType: Morphological anomaly
Name: Non-syndromic pansynostosis
OrphaCode: 620212
DisorderType: Morphological anomaly
Name: Non-syndromic bicoronal craniosynostosis
OrphaCode: 35099
DisorderType: Morphological anomaly
Name: Non-syndromic bilambdoid and sagittal craniosynostosis
OrphaCode: 1516
DisorderType: Malformation syndrome
Name: Syndromic craniosynostosis
OrphaCode: 139393
DisorderType: Category
Children: Name: Crouzon syndrome
OrphaCode: 207
DisorderType: Malformation syndrome
Name: C syndrome
OrphaCode: 1308
DisorderType: Malformation syndrome
Name: Apert syndrome
OrphaCode: 87
DisorderType: Malformation syndrome
Name: Antley-Bixler syndrome
OrphaCode: 83
DisorderType: Malformation syndrome
Children: Name: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
OrphaCode: 63269
DisorderType: Clinical subtype
Name: Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis
OrphaCode: 596008
DisorderType: Clinical subtype
Name: Baller-Gerold syndrome
OrphaCode: 1225
DisorderType: Malformation syndrome
Name: Cranioectodermal dysplasia
OrphaCode: 1515
DisorderType: Malformation syndrome
Name: Craniosynostosis, Philadelphia type
OrphaCode: 1527
DisorderType: Malformation syndrome
Name: Craniotelencephalic dysplasia
OrphaCode: 1528
DisorderType: Malformation syndrome
Name: Jackson-Weiss syndrome
OrphaCode: 1540
DisorderType: Malformation syndrome
Name: Curry-Jones syndrome
OrphaCode: 1553
DisorderType: Malformation syndrome
Name: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
OrphaCode: 1555
DisorderType: Malformation syndrome
Name: Craniosynostosis, Herrmann-Opitz type
OrphaCode: 2145
DisorderType: Malformation syndrome
Name: Holoprosencephaly-craniosynostosis syndrome
OrphaCode: 2163
DisorderType: Malformation syndrome
Name: Lowry-MacLean syndrome
OrphaCode: 2409
DisorderType: Malformation syndrome
Name: Shprintzen-Goldberg syndrome
OrphaCode: 2462
DisorderType: Malformation syndrome
Name: Cardiocranial syndrome, Pfeiffer type
OrphaCode: 2872
DisorderType: Malformation syndrome
Name: SCARF syndrome
OrphaCode: 3134
DisorderType: Malformation syndrome
Name: FGFR2-related bent bone dysplasia
OrphaCode: 313855
DisorderType: Disease
Name: Trigonocephaly-broad thumbs syndrome
OrphaCode: 3365
DisorderType: Malformation syndrome
Name: Trigonocephaly-short stature-developmental delay syndrome
OrphaCode: 3369
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-plagiocephaly syndrome
OrphaCode: 2898
DisorderType: Malformation syndrome
Name: Craniosynostosis, Boston type
OrphaCode: 1541
DisorderType: Malformation syndrome
Name: Craniomicromelic syndrome
OrphaCode: 1524
DisorderType: Malformation syndrome
Name: Craniosynostosis-intracranial calcifications syndrome
OrphaCode: 52054
DisorderType: Malformation syndrome
Name: Muenke syndrome
OrphaCode: 53271
DisorderType: Malformation syndrome
Name: Infantile hypophosphatasia
OrphaCode: 247651
DisorderType: Clinical subtype
Name: Craniosynostosis-anal anomalies-porokeratosis syndrome
OrphaCode: 85199
DisorderType: Malformation syndrome
Name: Crouzon syndrome-acanthosis nigricans syndrome
OrphaCode: 93262
DisorderType: Malformation syndrome
Name: Cloverleaf skull-multiple congenital anomalies syndrome
OrphaCode: 93267
DisorderType: Malformation syndrome
Name: Prenatal benign hypophosphatasia
OrphaCode: 247638
DisorderType: Clinical subtype
Name: Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
OrphaCode: 100978
DisorderType: Malformation syndrome
Name: Familial scaphocephaly syndrome
OrphaCode: 169163
DisorderType: Category
Children: Name: Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
OrphaCode: 1538
DisorderType: Malformation syndrome
Name: Familial scaphocephaly syndrome, McGillivray type
OrphaCode: 168624
DisorderType: Malformation syndrome
Name: Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
OrphaCode: 171839
DisorderType: Malformation syndrome
Name: Osteosclerosis-developmental delay-craniosynostosis syndrome
OrphaCode: 178377
DisorderType: Malformation syndrome
Name: Acrocephalopolydactyly
OrphaCode: 221054
DisorderType: Malformation syndrome
Name: Craniosynostosis-dental anomalies
OrphaCode: 284149
DisorderType: Malformation syndrome
Name: Lethal occipital encephalocele-skeletal dysplasia syndrome
OrphaCode: 293925
DisorderType: Malformation syndrome
Name: Childhood-onset hypophosphatasia
OrphaCode: 247667
DisorderType: Clinical subtype
Name: 3MC syndrome
OrphaCode: 293843
DisorderType: Malformation syndrome
Name: Mucopolysaccharidosis
OrphaCode: 79213
DisorderType: Category
Children: Name: Mucopolysaccharidosis type 6
OrphaCode: 583
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 6, rapidly progressing
OrphaCode: 276212
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 6, slowly progressing
OrphaCode: 276223
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 7
OrphaCode: 584
DisorderType: Disease
Name: Mucopolysaccharidosis type 2
OrphaCode: 580
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 2, severe form
OrphaCode: 217085
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 2, attenuated form
OrphaCode: 217093
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 1
OrphaCode: 579
DisorderType: Disease
Children: Name: Hurler syndrome
OrphaCode: 93473
DisorderType: Clinical subtype
Name: Scheie syndrome
OrphaCode: 93474
DisorderType: Clinical subtype
Name: Hurler-Scheie syndrome
OrphaCode: 93476
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 3
OrphaCode: 581
DisorderType: Disease
Children: Name: Sanfilippo syndrome type A
OrphaCode: 79269
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type B
OrphaCode: 79270
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type C
OrphaCode: 79271
DisorderType: Etiological subtype
Name: Sanfilippo syndrome type D
OrphaCode: 79272
DisorderType: Etiological subtype
Name: Mucopolysaccharidosis type 4
OrphaCode: 582
DisorderType: Disease
Children: Name: Mucopolysaccharidosis type 4B
OrphaCode: 309310
DisorderType: Clinical subtype
Name: Mucopolysaccharidosis type 4A
OrphaCode: 309297
DisorderType: Clinical subtype
Name: Hyaluronidase deficiency
OrphaCode: 67041
DisorderType: Disease
Name: Mucopolysaccharidosis type 10
OrphaCode: 662216
DisorderType: Disease
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Osteoglosphonic dysplasia
OrphaCode: 2645
DisorderType: Malformation syndrome
Name: Williams syndrome
OrphaCode: 904
DisorderType: Malformation syndrome
Name: Radioulnar synostosis-developmental delay-hypotonia syndrome
OrphaCode: 3270
DisorderType: Malformation syndrome
Name: Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
OrphaCode: 369837
DisorderType: Malformation syndrome
Name: Craniofrontonasal dysplasia
OrphaCode: 1520
DisorderType: Malformation syndrome
Name: Carpenter syndrome
OrphaCode: 65759
DisorderType: Malformation syndrome
Name: Thanatophoric dysplasia
OrphaCode: 2655
DisorderType: Disease
Children: Name: Thanatophoric dysplasia type 1
OrphaCode: 1860
DisorderType: Clinical subtype
Name: Thanatophoric dysplasia type 2
OrphaCode: 93274
DisorderType: Clinical subtype
Name: Pycnodysostosis
OrphaCode: 763
DisorderType: Disease
Name: Coffin-Siris syndrome
OrphaCode: 1465
DisorderType: Malformation syndrome
Name: Acrocallosal syndrome
OrphaCode: 36
DisorderType: Malformation syndrome
Name: Dubowitz syndrome
OrphaCode: 235
DisorderType: Malformation syndrome
Name: Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome
OrphaCode: 647681
DisorderType: Malformation syndrome
Name: Craniosynostosis-microretrognathia-severe intellectual disability syndrome
OrphaCode: 565858
DisorderType: Malformation syndrome
Name: Craniosynostosis-facial dysmorphism-brachydactyly syndrome
OrphaCode: 672979
DisorderType: Malformation syndrome
Name: Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome
OrphaCode: 672985
DisorderType: Malformation syndrome
Name: KBG syndrome
OrphaCode: 2332
DisorderType: Malformation syndrome
Name: Koolen-De Vries syndrome
OrphaCode: 96169
DisorderType: Malformation syndrome
Children: Name: 17q21.31 microdeletion syndrome
OrphaCode: 363958
DisorderType: Etiological subtype
Name: Koolen-De Vries syndrome due to a point mutation
OrphaCode: 363965
DisorderType: Etiological subtype
Name: Bohring-Opitz syndrome
OrphaCode: 97297
DisorderType: Malformation syndrome
Name: Fetal valproate spectrum disorder
OrphaCode: 1906
DisorderType: Malformation syndrome
Name: Pfeiffer syndrome
OrphaCode: 710
DisorderType: Malformation syndrome
Children: Name: Pfeiffer syndrome type 1
OrphaCode: 93258
DisorderType: Clinical subtype
Name: Pfeiffer syndrome type 2
OrphaCode: 93259
DisorderType: Clinical subtype
Name: Pfeiffer syndrome type 3
OrphaCode: 93260
DisorderType: Clinical subtype
Name: Saethre-Chotzen syndrome
OrphaCode: 794
DisorderType: Malformation syndrome
Name: Congenital pseudoarthrosis of the clavicle
OrphaCode: 66630
DisorderType: Disease
Name: Dysostosis with predominant craniofacial involvement
OrphaCode: 93453
DisorderType: Category
Children: Name: Cantú syndrome
OrphaCode: 1517
DisorderType: Malformation syndrome
Name: Oculomaxillofacial dysostosis
OrphaCode: 1794
DisorderType: Malformation syndrome
Name: Frontonasal dysplasia
OrphaCode: 250
DisorderType: Clinical group
Children: Name: SPECC1L-related hypertelorism syndrome
OrphaCode: 1519
DisorderType: Malformation syndrome
Name: Craniofrontonasal dysplasia
OrphaCode: 1520
DisorderType: Malformation syndrome
Name: Craniofrontonasal dysplasia-Poland anomaly syndrome
OrphaCode: 1521
DisorderType: Malformation syndrome
Name: Pai syndrome
OrphaCode: 1993
DisorderType: Malformation syndrome
Name: Frontofacionasal dysplasia
OrphaCode: 1791
DisorderType: Malformation syndrome
Name: Acromelic frontonasal dysplasia
OrphaCode: 1827
DisorderType: Malformation syndrome
Name: Frontonasal dysplasia-alopecia-genital anomalies syndrome
OrphaCode: 228390
DisorderType: Malformation syndrome
Name: Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
OrphaCode: 306542
DisorderType: Malformation syndrome
Name: Frontorhiny
OrphaCode: 391474
DisorderType: Malformation syndrome
Name: Oculoauriculofrontonasal syndrome
OrphaCode: 398156
DisorderType: Malformation syndrome
Name: SIX2-related frontonasal dysplasia
OrphaCode: 488437
DisorderType: Malformation syndrome
Name: Craniorhiny
OrphaCode: 157832
DisorderType: Malformation syndrome
Name: Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
OrphaCode: 521308
DisorderType: Malformation syndrome
Name: Oculoauriculovertebral spectrum with radial defects
OrphaCode: 2549
DisorderType: Malformation syndrome
Name: Familial osteodysplasia, Anderson type
OrphaCode: 2769
DisorderType: Malformation syndrome
Name: Teebi-Shaltout syndrome
OrphaCode: 3291
DisorderType: Malformation syndrome
Name: Craniofaciofrontodigital syndrome
OrphaCode: 363705
DisorderType: Disease
Name: Otomandibular dysplasia
OrphaCode: 155896
DisorderType: Category
Children: Name: Auriculocondylar syndrome
OrphaCode: 137888
DisorderType: Malformation syndrome
Name: Oculo-auriculo-vertebral spectrum
OrphaCode: 141132
DisorderType: Malformation syndrome
Name: Mandibulofacial dysostosis
OrphaCode: 155899
DisorderType: Clinical group
Children: Name: Treacher-Collins syndrome
OrphaCode: 861
DisorderType: Malformation syndrome
Name: Acrodysostosis
OrphaCode: 950
DisorderType: Malformation syndrome
Name: Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
OrphaCode: 357158
DisorderType: Disease
Name: Mandibulofacial dysostosis with alopecia
OrphaCode: 443995
DisorderType: Malformation syndrome
Name: Otomandibular dysplasia associated with monogenic syndromes
OrphaCode: 156202
DisorderType: Category
Children: Name: Lambert syndrome
OrphaCode: 1296
DisorderType: Malformation syndrome
Name: BOR syndrome
OrphaCode: 107
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome
OrphaCode: 140997
DisorderType: Clinical group
Children: Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 2
OrphaCode: 2751
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 4
OrphaCode: 2753
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 8
OrphaCode: 2755
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 5
OrphaCode: 2919
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 11
OrphaCode: 141000
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 9
OrphaCode: 141007
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 14
OrphaCode: 434179
DisorderType: Malformation syndrome
Name: Oral-facial-digital syndrome with short stature and brachymesophalangy
OrphaCode: 508501
DisorderType: Malformation syndrome
Name: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
OrphaCode: 459061
DisorderType: Malformation syndrome
Name: Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
OrphaCode: 314555
DisorderType: Malformation syndrome
Name: Dobrow syndrome
OrphaCode: 3262
DisorderType: Malformation syndrome
Name: Dysostosis with predominant vertebral and costal involvement
OrphaCode: 93454
DisorderType: Category
Children: Name: Autosomal recessive spondylocostal dysostosis
OrphaCode: 2311
DisorderType: Malformation syndrome
Name: Currarino syndrome
OrphaCode: 1552
DisorderType: Malformation syndrome
Name: Cerebrocostomandibular syndrome
OrphaCode: 1393
DisorderType: Malformation syndrome
Name: Cerebrofaciothoracic dysplasia
OrphaCode: 1394
DisorderType: Malformation syndrome
Name: Ankylosing vertebral hyperostosis with tylosis
OrphaCode: 2206
DisorderType: Malformation syndrome
Name: Melhem-Fahl syndrome
OrphaCode: 2482
DisorderType: Malformation syndrome
Name: Imperforate oropharynx-costovertebral anomalies syndrome
OrphaCode: 2759
DisorderType: Malformation syndrome
Name: Pelvic dysplasia-arthrogryposis of lower limbs syndrome
OrphaCode: 2840
DisorderType: Malformation syndrome
Name: Autosomal dominant spondylocostal dysostosis
OrphaCode: 1797
DisorderType: Malformation syndrome
Name: Wildervanck syndrome
OrphaCode: 3456
DisorderType: Malformation syndrome
Name: Progressive non-infectious anterior vertebral fusion
OrphaCode: 2062
DisorderType: Malformation syndrome
Name: Isolated Klippel-Feil syndrome
OrphaCode: 2345
DisorderType: Malformation syndrome
Name: Diaphanospondylodysostosis
OrphaCode: 66637
DisorderType: Malformation syndrome
Name: Camptodactyly-tall stature-scoliosis-hearing loss syndrome
OrphaCode: 85164
DisorderType: Disease
Name: Tall stature-long halluces-multiple extra-epiphyses syndrome
OrphaCode: 329191
DisorderType: Disease
Name: Duane anomaly-myopathy-scoliosis syndrome
OrphaCode: 50817
DisorderType: Disease
Name: Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
OrphaCode: 447974
DisorderType: Malformation syndrome
Name: Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
OrphaCode: 505248
DisorderType: Malformation syndrome
Name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
OrphaCode: 453499
DisorderType: Malformation syndrome
Children: Name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
OrphaCode: 352665
DisorderType: Etiological subtype
Name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
OrphaCode: 453504
DisorderType: Etiological subtype
Name: Patellar dysostosis
OrphaCode: 93455
DisorderType: Category
Children: Name: Nail-patella syndrome
OrphaCode: 2614
DisorderType: Malformation syndrome
Name: Coxopodopatellar syndrome
OrphaCode: 1509
DisorderType: Disease
Name: Ear-patella-short stature syndrome
OrphaCode: 2554
DisorderType: Malformation syndrome
Name: Isolated patella aplasia/hypoplasia
OrphaCode: 86789
DisorderType: Morphological anomaly
Name: Familial clubfoot due to PITX1 point mutation
OrphaCode: 293150
DisorderType: Etiological subtype
Name: KAT6B-related multiple congenital anomalies syndrome
OrphaCode: 597749
DisorderType: Clinical group
Children: Name: Blepharophimosis-intellectual disability syndrome, SBBYS type
OrphaCode: 3047
DisorderType: Malformation syndrome
Name: Genitopatellar syndrome
OrphaCode: 85201
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
OrphaCode: 597746
DisorderType: Malformation syndrome
Name: Dysostosis with limb anomaly as a major feature
OrphaCode: 364568
DisorderType: Category
Children: Name: Camptodactyly syndrome, Guadalajara type 3
OrphaCode: 488434
DisorderType: Malformation syndrome
Name: Tel Hashomer camptodactyly syndrome
OrphaCode: 3292
DisorderType: Malformation syndrome
Name: Ectrodactyly with and without other manifestations
OrphaCode: 498477
DisorderType: Category
Children: Name: EEM syndrome
OrphaCode: 1897
DisorderType: Malformation syndrome
Name: Limb-mammary syndrome
OrphaCode: 69085
DisorderType: Malformation syndrome
Name: Fibular aplasia-ectrodactyly syndrome
OrphaCode: 1118
DisorderType: Malformation syndrome
Name: Ectrodactyly-polydactyly syndrome
OrphaCode: 1892
DisorderType: Malformation syndrome
Name: Charlie M syndrome
OrphaCode: 1406
DisorderType: Malformation syndrome
Name: Gollop-Wolfgang complex
OrphaCode: 1986
DisorderType: Malformation syndrome
Name: EEC syndrome
OrphaCode: 1896
DisorderType: Malformation syndrome
Name: ADULT syndrome
OrphaCode: 978
DisorderType: Malformation syndrome
Name: Isolated split hand-split foot malformation
OrphaCode: 2440
DisorderType: Malformation syndrome
Name: Tibial aplasia-ectrodactyly syndrome
OrphaCode: 3329
DisorderType: Malformation syndrome
Name: Hartsfield syndrome
OrphaCode: 2117
DisorderType: Malformation syndrome
Name: Patterson-Stevenson-Fontaine syndrome
OrphaCode: 2439
DisorderType: Malformation syndrome
Name: Dysostosis with brachydactyly
OrphaCode: 69028
DisorderType: Category
Children: Name: Dysostosis with brachydactyly without extraskeletal manifestations
OrphaCode: 498451
DisorderType: Category
Children: Name: Symbrachydactyly of hands and feet
OrphaCode: 1570
DisorderType: Malformation syndrome
Name: Preaxial digit brachydactyly-webbed fingers
OrphaCode: 633211
DisorderType: Malformation syndrome
Name: Brachydactyly type A2
OrphaCode: 93396
DisorderType: Malformation syndrome
Name: Brachydactyly type A4
OrphaCode: 93394
DisorderType: Malformation syndrome
Name: Brachydactyly type A6
OrphaCode: 93382
DisorderType: Malformation syndrome
Name: Brachydactyly type A7
OrphaCode: 93397
DisorderType: Malformation syndrome
Name: Sugarman brachydactyly
OrphaCode: 498602
DisorderType: Morphological anomaly
Name: Mononen-Karnes-Senac syndrome
OrphaCode: 2565
DisorderType: Malformation syndrome
Name: Familial digital arthropathy-brachydactyly
OrphaCode: 85169
DisorderType: Malformation syndrome
Name: Brachydactyly-elbow wrist dysplasia syndrome
OrphaCode: 1275
DisorderType: Malformation syndrome
Name: Brachydactyly type A1
OrphaCode: 93388
DisorderType: Malformation syndrome
Name: Brachydactyly type B
OrphaCode: 93383
DisorderType: Malformation syndrome
Children: Name: Brachydactyly type B2
OrphaCode: 140908
DisorderType: Clinical subtype
Name: Brachydactyly type B1
OrphaCode: 572385
DisorderType: Clinical subtype
Name: Brachydactyly type C
OrphaCode: 93384
DisorderType: Malformation syndrome
Name: Brachydactyly type E
OrphaCode: 93387
DisorderType: Malformation syndrome
Name: Cooks syndrome
OrphaCode: 1487
DisorderType: Malformation syndrome
Name: Camptobrachydactyly
OrphaCode: 1319
DisorderType: Malformation syndrome
Name: Dysostosis with brachydactyly with extraskeletal manifestations
OrphaCode: 498454
DisorderType: Category
Children: Name: Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
OrphaCode: 589608
DisorderType: Disease
Name: Brachydactyly-short stature-retinitis pigmentosa syndrome
OrphaCode: 166035
DisorderType: Malformation syndrome
Name: 2q37 microdeletion syndrome
OrphaCode: 1001
DisorderType: Malformation syndrome
Name: Hyperphosphatasia-intellectual disability syndrome
OrphaCode: 247262
DisorderType: Disease
Name: Brachydactyly-arterial hypertension syndrome
OrphaCode: 1276
DisorderType: Malformation syndrome
Name: Temtamy preaxial brachydactyly syndrome
OrphaCode: 363417
DisorderType: Malformation syndrome
Name: Coffin-Siris syndrome
OrphaCode: 1465
DisorderType: Malformation syndrome
Name: Microcephaly-brachydactyly-kyphoscoliosis syndrome
OrphaCode: 3433
DisorderType: Malformation syndrome
Name: Thumb stiffness-brachydactyly-intellectual disability syndrome
OrphaCode: 1078
DisorderType: Malformation syndrome
Name: Brachydactyly-preaxial hallux varus syndrome
OrphaCode: 1278
DisorderType: Malformation syndrome
Name: Acrodysplasia scoliosis
OrphaCode: 2956
DisorderType: Malformation syndrome
Name: Brachymorphism-onychodysplasia-dysphalangism syndrome
OrphaCode: 1292
DisorderType: Malformation syndrome
Name: Skeletal dysplasia-epilepsy-short stature syndrome
OrphaCode: 1858
DisorderType: Malformation syndrome
Name: Brachydactyly-long thumb syndrome
OrphaCode: 2946
DisorderType: Malformation syndrome
Name: Ulnar/fibula ray defect-brachydactyly syndrome
OrphaCode: 52056
DisorderType: Malformation syndrome
Name: Feingold syndrome
OrphaCode: 1305
DisorderType: Malformation syndrome
Children: Name: Feingold syndrome type 1
OrphaCode: 391641
DisorderType: Clinical subtype
Name: Feingold syndrome type 2
OrphaCode: 391646
DisorderType: Clinical subtype
Name: Hand-foot-genital syndrome
OrphaCode: 2438
DisorderType: Malformation syndrome
Name: Brachytelephalangy-dysmorphism-Kallmann syndrome
OrphaCode: 1295
DisorderType: Malformation syndrome
Name: Poland syndrome
OrphaCode: 2911
DisorderType: Malformation syndrome
Name: Rubinstein-Taybi syndrome
OrphaCode: 783
DisorderType: Malformation syndrome
Children: Name: Rubinstein-Taybi syndrome due to CREBBP mutations
OrphaCode: 353277
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
OrphaCode: 353281
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
OrphaCode: 353284
DisorderType: Etiological subtype
Name: Adams-Oliver syndrome
OrphaCode: 974
DisorderType: Malformation syndrome
Name: Non-syndromic limb reduction defect
OrphaCode: 93457
DisorderType: Category
Children: Name: Non-syndromic longitudinal limb defect
OrphaCode: 498457
DisorderType: Category
Children: Name: Non-syndromic hemimelia
OrphaCode: 2130
DisorderType: Clinical group
Children: Name: Isolated ulnar hemimelia
OrphaCode: 93320
DisorderType: Morphological anomaly
Name: Isolated radial hemimelia
OrphaCode: 93321
DisorderType: Morphological anomaly
Name: Isolated tibial hemimelia
OrphaCode: 93322
DisorderType: Morphological anomaly
Name: Isolated fibular hemimelia
OrphaCode: 93323
DisorderType: Morphological anomaly
Name: Isolated hypoplasia of thumb
OrphaCode: 294988
DisorderType: Morphological anomaly
Name: Non-syndromic terminal transverse limb defect
OrphaCode: 498461
DisorderType: Category
Children: Name: Non-syndromic amelia
OrphaCode: 294925
DisorderType: Clinical group
Children: Name: Isolated amelia of upper limb
OrphaCode: 294967
DisorderType: Morphological anomaly
Name: Isolated amelia of lower limb
OrphaCode: 294969
DisorderType: Morphological anomaly
Name: Isolated tetra-amelia
OrphaCode: 294971
DisorderType: Morphological anomaly
Name: Isolated absence/hypoplasia of fingers excluding thumb, unilateral
OrphaCode: 973
DisorderType: Morphological anomaly
Name: Amniotic band syndrome
OrphaCode: 295000
DisorderType: Malformation syndrome
Name: Non-syndromic complete hemimelia
OrphaCode: 498491
DisorderType: Category
Children: Name: Isolated absence of both lower leg and foot
OrphaCode: 294981
DisorderType: Morphological anomaly
Name: Isolated absence of both forearm and hand
OrphaCode: 294979
DisorderType: Morphological anomaly
Name: Isolated acheiria
OrphaCode: 294983
DisorderType: Morphological anomaly
Name: Isolated apodia
OrphaCode: 294986
DisorderType: Morphological anomaly
Name: Isolated acheiropodia
OrphaCode: 931
DisorderType: Morphological anomaly
Name: Non-syndromic intercalary limb defects
OrphaCode: 294927
DisorderType: Clinical group
Children: Name: Isolated humeral agenesis/hypoplasia
OrphaCode: 294973
DisorderType: Morphological anomaly
Name: Isolated absence of upper arm and forearm with hand present
OrphaCode: 294975
DisorderType: Morphological anomaly
Name: Isolated absence of thigh and lower leg with foot present
OrphaCode: 294977
DisorderType: Morphological anomaly
Name: Isolated femoral agenesis/hypoplasia
OrphaCode: 1987
DisorderType: Morphological anomaly
Name: Isolated proximal femoral focal deficiency
OrphaCode: 633228
DisorderType: Morphological anomaly
Name: Isolated congenital femoral bifurcation
OrphaCode: 667589
DisorderType: Morphological anomaly
Name: Non-syndromic polydactyly, syndactyly and/or hyperphalangy
OrphaCode: 93458
DisorderType: Category
Children: Name: Non-syndromic polydactyly
OrphaCode: 2913
DisorderType: Category
Children: Name: Non-syndromic preaxial polydactyly
OrphaCode: 498464
DisorderType: Category
Children: Name: Polydactyly of a triphalangeal thumb
OrphaCode: 93336
DisorderType: Morphological anomaly
Name: Polydactyly of an index finger
OrphaCode: 93337
DisorderType: Morphological anomaly
Name: Polysyndactyly
OrphaCode: 93338
DisorderType: Morphological anomaly
Name: Polydactyly of a biphalangeal thumb and/or hallux
OrphaCode: 93339
DisorderType: Morphological anomaly
Name: Non-syndromic postaxial polydactyly
OrphaCode: 498467
DisorderType: Category
Children: Name: Postaxial polydactyly type A
OrphaCode: 93334
DisorderType: Morphological anomaly
Name: Postaxial polydactyly type B
OrphaCode: 93335
DisorderType: Morphological anomaly
Name: Non-syndromic complex polydactyly
OrphaCode: 498470
DisorderType: Category
Children: Name: Central polydactyly
OrphaCode: 295004
DisorderType: Morphological anomaly
Name: Mirror-image polydactyly
OrphaCode: 498494
DisorderType: Morphological anomaly
Name: Non-syndromic syndactyly
OrphaCode: 90025
DisorderType: Category
Children: Name: Syndactyly type 8
OrphaCode: 2498
DisorderType: Morphological anomaly
Name: Syndactyly type 1
OrphaCode: 93402
DisorderType: Morphological anomaly
Children: Name: Zygodactyly type 1
OrphaCode: 295187
DisorderType: Clinical subtype
Name: Zygodactyly type 2
OrphaCode: 295189
DisorderType: Clinical subtype
Name: Zygodactyly type 3
OrphaCode: 295191
DisorderType: Clinical subtype
Name: Zygodactyly type 4
OrphaCode: 295193
DisorderType: Clinical subtype
Name: Syndactyly type 2
OrphaCode: 93403
DisorderType: Morphological anomaly
Children: Name: Synpolydactyly type 1
OrphaCode: 295195
DisorderType: Clinical subtype
Name: Synpolydactyly type 2
OrphaCode: 295197
DisorderType: Clinical subtype
Name: Synpolydactyly type 3
OrphaCode: 295199
DisorderType: Clinical subtype
Name: Syndactyly type 3
OrphaCode: 93404
DisorderType: Morphological anomaly
Name: Syndactyly type 4
OrphaCode: 93405
DisorderType: Morphological anomaly
Name: Syndactyly type 5
OrphaCode: 93406
DisorderType: Morphological anomaly
Name: Mesoaxial synostotic syndactyly with phalangeal reduction
OrphaCode: 157801
DisorderType: Morphological anomaly
Name: Syndactyly type 6
OrphaCode: 295012
DisorderType: Morphological anomaly
Name: Isolated hyperphalangy
OrphaCode: 295002
DisorderType: Morphological anomaly
Name: Syndrome with synostosis or other joint formation defect
OrphaCode: 93459
DisorderType: Category
Children: Name: B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 75496
DisorderType: Clinical subtype
Name: Banki syndrome
OrphaCode: 1228
DisorderType: Malformation syndrome
Name: Brachydactyly-elbow wrist dysplasia syndrome
OrphaCode: 1275
DisorderType: Malformation syndrome
Name: Tarsal-carpal coalition syndrome
OrphaCode: 1412
DisorderType: Malformation syndrome
Name: OSLAM syndrome
OrphaCode: 2760
DisorderType: Malformation syndrome
Name: Leri pleonosteosis
OrphaCode: 2900
DisorderType: Malformation syndrome
Name: Multiple synostoses syndrome
OrphaCode: 3237
DisorderType: Malformation syndrome
Name: Symphalangism with multiple anomalies of hands and feet
OrphaCode: 3246
DisorderType: Malformation syndrome
Name: Proximal symphalangism
OrphaCode: 3250
DisorderType: Malformation syndrome
Name: Radioulnar synostosis-microcephaly-scoliosis syndrome
OrphaCode: 3268
DisorderType: Malformation syndrome
Name: Radioulnar synostosis-developmental delay-hypotonia syndrome
OrphaCode: 3270
DisorderType: Malformation syndrome
Name: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
OrphaCode: 71289
DisorderType: Malformation syndrome
Name: WT limb-blood syndrome
OrphaCode: 3466
DisorderType: Disease
Name: Isolated pseudoarthrosis of the limbs
OrphaCode: 157808
DisorderType: Morphological anomaly
Children: Name: Congenital pseudoarthrosis of the tibia
OrphaCode: 295018
DisorderType: Clinical subtype
Name: Congenital pseudoarthrosis of the femur
OrphaCode: 295020
DisorderType: Clinical subtype
Name: Congenital pseudoarthrosis of the fibula
OrphaCode: 295022
DisorderType: Clinical subtype
Name: Congenital pseudoarthrosis of the radius
OrphaCode: 295024
DisorderType: Clinical subtype
Name: Congenital pseudoarthrosis of the ulna
OrphaCode: 295026
DisorderType: Clinical subtype
Name: Familial clubfoot with or without associated lower limb anomalies
OrphaCode: 199315
DisorderType: Malformation syndrome
Children: Name: Familial clubfoot due to 17q23.1q23.2 microduplication
OrphaCode: 238578
DisorderType: Etiological subtype
Name: Familial clubfoot due to 5q31 microdeletion
OrphaCode: 293144
DisorderType: Etiological subtype
Name: Familial clubfoot due to PITX1 point mutation
OrphaCode: 293150
DisorderType: Etiological subtype
Name: Heart-hand syndrome
OrphaCode: 228184
DisorderType: Category
Children: Name: Holt-Oram syndrome
OrphaCode: 392
DisorderType: Malformation syndrome
Name: Heart-hand syndrome type 3
OrphaCode: 1342
DisorderType: Malformation syndrome
Name: Heart-hand syndrome type 2
OrphaCode: 1350
DisorderType: Malformation syndrome
Name: Brachydactyly-long thumb syndrome
OrphaCode: 2946
DisorderType: Malformation syndrome
Name: Heart-hand syndrome, Slovenian type
OrphaCode: 168796
DisorderType: Malformation syndrome
Name: Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
OrphaCode: 228190
DisorderType: Malformation syndrome
Name: Carney complex-trismus-pseudocamptodactyly syndrome
OrphaCode: 319340
DisorderType: Disease
Name: Non-syndromic joint formation defects
OrphaCode: 294949
DisorderType: Category
Children: Name: Isolated distal symphalangism
OrphaCode: 3248
DisorderType: Morphological anomaly
Name: Isolated humero-radial synostosis
OrphaCode: 3265
DisorderType: Morphological anomaly
Name: Isolated humero-radio-ulnar synostosis
OrphaCode: 3266
DisorderType: Morphological anomaly
Name: Isolated radio-ulnar synostosis
OrphaCode: 3269
DisorderType: Morphological anomaly
Name: Isolated humero-ulnar synostosis
OrphaCode: 94056
DisorderType: Morphological anomaly
Name: Isolated tibio-fibular synostosis
OrphaCode: 295028
DisorderType: Morphological anomaly
Name: Syndrome with limb reduction defects
OrphaCode: 294955
DisorderType: Category
Children: Name: Split-foot malformation-mesoaxial polydactyly syndrome
OrphaCode: 488232
DisorderType: Malformation syndrome
Name: Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
OrphaCode: 496693
DisorderType: Malformation syndrome
Name: Heart defects-limb shortening syndrome
OrphaCode: 1354
DisorderType: Malformation syndrome
Name: Thrombocytopenia-absent radius syndrome
OrphaCode: 3320
DisorderType: Malformation syndrome
Name: Fanconi anemia
OrphaCode: 84
DisorderType: Malformation syndrome
Name: Roberts syndrome
OrphaCode: 3103
DisorderType: Malformation syndrome
Name: Adams-Oliver syndrome
OrphaCode: 974
DisorderType: Malformation syndrome
Name: ADULT syndrome
OrphaCode: 978
DisorderType: Malformation syndrome
Name: Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
OrphaCode: 988
DisorderType: Malformation syndrome
Name: Hypoglossia-hypodactyly syndrome
OrphaCode: 989
DisorderType: Malformation syndrome
Name: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
OrphaCode: 1071
DisorderType: Malformation syndrome
Children: Name: Ankyloblepharon filiforme adnatum-cleft palate syndrome
OrphaCode: 1072
DisorderType: Clinical subtype
Name: Ankyloblepharon filiforme adnatum-imperforate anus syndrome
OrphaCode: 1074
DisorderType: Clinical subtype
Name: Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
OrphaCode: 1112
DisorderType: Malformation syndrome
Name: Aphalangy-syndactyly-microcephaly syndrome
OrphaCode: 1113
DisorderType: Malformation syndrome
Name: Lethal faciocardiomelic dysplasia
OrphaCode: 1972
DisorderType: Malformation syndrome
Name: Gollop-Wolfgang complex
OrphaCode: 1986
DisorderType: Malformation syndrome
Name: Femoral-facial syndrome
OrphaCode: 1988
DisorderType: Malformation syndrome
Name: Splenogonadal fusion-limb defects-micrognathia syndrome
OrphaCode: 2063
DisorderType: Malformation syndrome
Name: Ulna hypoplasia-intellectual disability syndrome
OrphaCode: 2249
DisorderType: Malformation syndrome
Name: IVIC syndrome
OrphaCode: 2307
DisorderType: Malformation syndrome
Name: Absence deformity of leg-cataract syndrome
OrphaCode: 2310
DisorderType: Malformation syndrome
Name: Karsch-Neugebauer syndrome
OrphaCode: 2329
DisorderType: Malformation syndrome
Name: Holt-Oram syndrome
OrphaCode: 392
DisorderType: Malformation syndrome
Name: Tetramelic monodactyly
OrphaCode: 2564
DisorderType: Malformation syndrome
Name: Fibular aplasia-complex brachydactyly syndrome
OrphaCode: 2639
DisorderType: Malformation syndrome
Name: Postaxial tetramelic oligodactyly
OrphaCode: 2730
DisorderType: Malformation syndrome
Name: Pelvis-shoulder dysplasia
OrphaCode: 2839
DisorderType: Malformation syndrome
Name: Fuhrmann syndrome
OrphaCode: 2854
DisorderType: Malformation syndrome
Name: Phocomelia, Schinzel type
OrphaCode: 2879
DisorderType: Malformation syndrome
Name: Radio-renal syndrome
OrphaCode: 3015
DisorderType: Malformation syndrome
Name: Absent radius-anogenital anomalies syndrome
OrphaCode: 3016
DisorderType: Malformation syndrome
Name: RAPADILINO syndrome
OrphaCode: 3021
DisorderType: Malformation syndrome
Name: Ulnar-mammary syndrome
OrphaCode: 3138
DisorderType: Malformation syndrome
Name: Tetraamelia-multiple malformations syndrome
OrphaCode: 3301
DisorderType: Malformation syndrome
Name: Thalidomide embryopathy
OrphaCode: 3312
DisorderType: Malformation syndrome
Name: Absent tibia-polydactyly-arachnoid cyst syndrome
OrphaCode: 3328
DisorderType: Malformation syndrome
Name: Tibial aplasia-ectrodactyly syndrome
OrphaCode: 3329
DisorderType: Malformation syndrome
Name: Humerus trochlea aplasia
OrphaCode: 3383
DisorderType: Malformation syndrome
Name: Split hand-split foot-deafness syndrome
OrphaCode: 71271
DisorderType: Malformation syndrome
Name: Okihiro syndrome
OrphaCode: 93293
DisorderType: Malformation syndrome
Children: Name: Okihiro syndrome due to 20q13 microdeletion
OrphaCode: 261638
DisorderType: Etiological subtype
Name: Okihiro syndrome due to a point mutation
OrphaCode: 261647
DisorderType: Etiological subtype
Name: Pelviscapular dysplasia
OrphaCode: 93333
DisorderType: Malformation syndrome
Name: Mammary-digital-nail syndrome
OrphaCode: 238744
DisorderType: Malformation syndrome
Name: Thrombocythemia with distal limb defects
OrphaCode: 329319
DisorderType: Disease
Name: Cornelia de Lange syndrome
OrphaCode: 199
DisorderType: Malformation syndrome
Name: Intellectual disability-spasticity-ectrodactyly syndrome
OrphaCode: 1891
DisorderType: Malformation syndrome
Name: FATCO syndrome
OrphaCode: 2492
DisorderType: Malformation syndrome
Name: Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
OrphaCode: 508542
DisorderType: Disease
Name: Combined immunodeficiency with facio-oculo-skeletal anomalies
OrphaCode: 221139
DisorderType: Disease
Name: Camptodactyly syndrome, Guadalajara type 2
OrphaCode: 1326
DisorderType: Malformation syndrome
Name: Dysostosis with combined reduction defects of upper and lower limbs
OrphaCode: 294957
DisorderType: Category
Children: Name: Autosomal recessive amelia
OrphaCode: 1027
DisorderType: Malformation syndrome
Name: Fibular aplasia-ectrodactyly syndrome
OrphaCode: 1118
DisorderType: Malformation syndrome
Name: Radial deficiency-tibial hypoplasia syndrome
OrphaCode: 1121
DisorderType: Malformation syndrome
Name: Ulnar hypoplasia-split foot syndrome
OrphaCode: 1122
DisorderType: Malformation syndrome
Name: Gollop-Wolfgang complex
OrphaCode: 1986
DisorderType: Malformation syndrome
Name: Femur-fibula-ulna complex
OrphaCode: 2019
DisorderType: Malformation syndrome
Name: Tibial aplasia-ectrodactyly syndrome
OrphaCode: 3329
DisorderType: Malformation syndrome
Name: Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
OrphaCode: 294959
DisorderType: Category
Children: Name: Greig cephalopolysyndactyly-contiguous gene syndrome
OrphaCode: 658805
DisorderType: Malformation syndrome
Name: B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
OrphaCode: 567502
DisorderType: Disease
Name: Acropectoral syndrome
OrphaCode: 85203
DisorderType: Malformation syndrome
Name: Brachydactyly-syndactyly, Zhao type
OrphaCode: 93409
DisorderType: Malformation syndrome
Name: Syndactyly-telecanthus-anogenital and renal malformations syndrome
OrphaCode: 140952
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome
OrphaCode: 140997
DisorderType: Clinical group
Children: Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 2
OrphaCode: 2751
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 4
OrphaCode: 2753
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 8
OrphaCode: 2755
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 5
OrphaCode: 2919
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 11
OrphaCode: 141000
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 9
OrphaCode: 141007
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 14
OrphaCode: 434179
DisorderType: Malformation syndrome
Name: Oral-facial-digital syndrome with short stature and brachymesophalangy
OrphaCode: 508501
DisorderType: Malformation syndrome
Name: Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome
OrphaCode: 357332
DisorderType: Malformation syndrome
Name: Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
OrphaCode: 369979
DisorderType: Malformation syndrome
Name: Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
OrphaCode: 420584
DisorderType: Malformation syndrome
Name: Townes-Brocks syndrome
OrphaCode: 857
DisorderType: Malformation syndrome
Name: Meckel syndrome
OrphaCode: 564
DisorderType: Malformation syndrome
Name: Acrocallosal syndrome
OrphaCode: 36
DisorderType: Malformation syndrome
Name: Acropectorovertebral dysplasia
OrphaCode: 957
DisorderType: Malformation syndrome
Name: Scalp defects-postaxial polydactyly syndrome
OrphaCode: 1003
DisorderType: Malformation syndrome
Name: Aphalangy-syndactyly-microcephaly syndrome
OrphaCode: 1113
DisorderType: Malformation syndrome
Name: Catel-Manzke syndrome
OrphaCode: 1388
DisorderType: Malformation syndrome
Name: Craniosynostosis, Philadelphia type
OrphaCode: 1527
DisorderType: Malformation syndrome
Name: Dandy-Walker malformation-postaxial polydactyly syndrome
OrphaCode: 1566
DisorderType: Malformation syndrome
Name: Fibular dimelia-diplopodia syndrome
OrphaCode: 1757
DisorderType: Malformation syndrome
Name: Ectrodactyly-polydactyly syndrome
OrphaCode: 1892
DisorderType: Malformation syndrome
Name: Gollop-Wolfgang complex
OrphaCode: 1986
DisorderType: Malformation syndrome
Name: Greig cephalopolysyndactyly syndrome
OrphaCode: 380
DisorderType: Malformation syndrome
Name: Hallux varus-preaxial polysyndactyly syndrome
OrphaCode: 2110
DisorderType: Malformation syndrome
Name: Pallister-Hall syndrome
OrphaCode: 672
DisorderType: Malformation syndrome
Name: Lacrimoauriculodentodigital syndrome
OrphaCode: 2363
DisorderType: Malformation syndrome
Name: Laurin-Sandrow syndrome
OrphaCode: 2378
DisorderType: Malformation syndrome
Name: Fuhrmann syndrome
OrphaCode: 2854
DisorderType: Malformation syndrome
Name: Polydactyly-myopia syndrome
OrphaCode: 2917
DisorderType: Malformation syndrome
Name: Oliver syndrome
OrphaCode: 2920
DisorderType: Malformation syndrome
Name: Crossed polysyndactyly
OrphaCode: 2935
DisorderType: Malformation syndrome
Name: Triphalangeal thumbs-brachyectrodactyly syndrome
OrphaCode: 2947
DisorderType: Malformation syndrome
Name: Guttmacher syndrome
OrphaCode: 2957
DisorderType: Malformation syndrome
Name: Mirror polydactyly-vertebral segmentation-limbs defects syndrome
OrphaCode: 3004
DisorderType: Malformation syndrome
Name: Sillence syndrome
OrphaCode: 3168
DisorderType: Malformation syndrome
Name: Eyebrow duplication-syndactyly syndrome
OrphaCode: 3172
DisorderType: Malformation syndrome
Name: Symphalangism with multiple anomalies of hands and feet
OrphaCode: 3246
DisorderType: Malformation syndrome
Name: Filippi syndrome
OrphaCode: 3255
DisorderType: Malformation syndrome
Name: Cenani-Lenz syndrome
OrphaCode: 3258
DisorderType: Malformation syndrome
Name: Absent tibia-polydactyly-arachnoid cyst syndrome
OrphaCode: 3328
DisorderType: Malformation syndrome
Name: Syndactyly-polydactyly-ear lobe syndrome
OrphaCode: 3259
DisorderType: Malformation syndrome
Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: Split hand-split foot-deafness syndrome
OrphaCode: 71271
DisorderType: Malformation syndrome
Name: FATCO syndrome
OrphaCode: 2492
DisorderType: Malformation syndrome
Name: Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
OrphaCode: 476119
DisorderType: Malformation syndrome
Name: Split-foot malformation-mesoaxial polydactyly syndrome
OrphaCode: 488232
DisorderType: Malformation syndrome
Name: Bipartite talus
OrphaCode: 364198
DisorderType: Morphological anomaly
Name: Dysostosis with limb and face anomalies as a major feature
OrphaCode: 364571
DisorderType: Category
Children: Name: Oromandibular-limb hypogenesis syndrome
OrphaCode: 2749
DisorderType: Clinical group
Children: Name: Charlie M syndrome
OrphaCode: 1406
DisorderType: Malformation syndrome
Name: Hypoglossia-hypodactyly syndrome
OrphaCode: 989
DisorderType: Malformation syndrome
Name: Glossopalatine ankylosis
OrphaCode: 141163
DisorderType: Malformation syndrome
Name: Endocrine-cerebro-osteodysplasia syndrome
OrphaCode: 199332
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis
OrphaCode: 364574
DisorderType: Clinical group
Children: Name: Nager syndrome
OrphaCode: 245
DisorderType: Malformation syndrome
Name: Postaxial acrofacial dysostosis
OrphaCode: 246
DisorderType: Malformation syndrome
Name: Acrocraniofacial dysostosis
OrphaCode: 949
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Weyers type
OrphaCode: 952
DisorderType: Malformation syndrome
Name: X-linked mandibulofacial dysostosis
OrphaCode: 1131
DisorderType: Malformation syndrome
Name: Craniofrontonasal dysplasia
OrphaCode: 1520
DisorderType: Malformation syndrome
Name: Acrofrontofacionasal dysostosis
OrphaCode: 1784
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Catania type
OrphaCode: 1786
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Rodríguez type
OrphaCode: 1788
DisorderType: Malformation syndrome
Name: Patterson-Stevenson-Fontaine syndrome
OrphaCode: 2439
DisorderType: Malformation syndrome
Name: Acromelic frontonasal dysplasia
OrphaCode: 1827
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Palagonia type
OrphaCode: 1787
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Kennedy-Teebi type
OrphaCode: 64542
DisorderType: Malformation syndrome
Name: Mandibulofacial dysostosis-microcephaly syndrome
OrphaCode: 79113
DisorderType: Malformation syndrome
Name: Richieri Costa-Pereira syndrome
OrphaCode: 3102
DisorderType: Malformation syndrome
Name: Otoonychoperoneal syndrome
OrphaCode: 2793
DisorderType: Malformation syndrome
Name: External auditory canal atresia-vertical talus-hypertelorism syndrome
OrphaCode: 3023
DisorderType: Malformation syndrome
Name: Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome
OrphaCode: 1321
DisorderType: Malformation syndrome
Name: Camptodactyly-joint contractures-facial skeletal defects syndrome
OrphaCode: 1323
DisorderType: Malformation syndrome
Name: Malformation syndrome with short stature
OrphaCode: 139021
DisorderType: Category
Children: Name: Williams syndrome
OrphaCode: 904
DisorderType: Malformation syndrome
Name: Rubinstein-Taybi syndrome
OrphaCode: 783
DisorderType: Malformation syndrome
Children: Name: Rubinstein-Taybi syndrome due to CREBBP mutations
OrphaCode: 353277
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
OrphaCode: 353281
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
OrphaCode: 353284
DisorderType: Etiological subtype
Name: Cornelia de Lange syndrome
OrphaCode: 199
DisorderType: Malformation syndrome
Name: Aarskog-Scott syndrome
OrphaCode: 915
DisorderType: Malformation syndrome
Name: Bloom syndrome
OrphaCode: 125
DisorderType: Disease
Name: Dubowitz syndrome
OrphaCode: 235
DisorderType: Malformation syndrome
Name: Silver-Russell syndrome
OrphaCode: 813
DisorderType: Disease
Children: Name: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
OrphaCode: 96182
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to 7p11.2p13 microduplication
OrphaCode: 231137
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to an imprinting defect of 11p15
OrphaCode: 231140
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to 11p15 microduplication
OrphaCode: 231144
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
OrphaCode: 231147
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to a point mutation
OrphaCode: 397590
DisorderType: Etiological subtype
Name: Autosomal recessive faciodigitogenital syndrome
OrphaCode: 1974
DisorderType: Malformation syndrome
Name: Floating-Harbor syndrome
OrphaCode: 2044
DisorderType: Malformation syndrome
Name: Hallermann-Streiff syndrome
OrphaCode: 2108
DisorderType: Malformation syndrome
Name: Johanson-Blizzard syndrome
OrphaCode: 2315
DisorderType: Malformation syndrome
Name: Kabuki syndrome
OrphaCode: 2322
DisorderType: Malformation syndrome
Name: Kenny-Caffey syndrome
OrphaCode: 2333
DisorderType: Malformation syndrome
Children: Name: Autosomal recessive Kenny-Caffey syndrome
OrphaCode: 93324
DisorderType: Etiological subtype
Name: Autosomal dominant Kenny-Caffey syndrome
OrphaCode: 93325
DisorderType: Etiological subtype
Name: Mulibrey nanism
OrphaCode: 2576
DisorderType: Malformation syndrome
Name: 3M syndrome
OrphaCode: 2616
DisorderType: Malformation syndrome
Name: SHORT syndrome
OrphaCode: 3163
DisorderType: Malformation syndrome
Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: Robinow syndrome
OrphaCode: 97360
DisorderType: Malformation syndrome
Children: Name: Autosomal recessive Robinow syndrome
OrphaCode: 1507
DisorderType: Clinical subtype
Name: Autosomal dominant Robinow syndrome
OrphaCode: 3107
DisorderType: Clinical subtype
Name: Noonan syndrome and Noonan-related syndrome
OrphaCode: 98733
DisorderType: Category
Children: Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Costello syndrome
OrphaCode: 3071
DisorderType: Malformation syndrome
Name: Noonan syndrome with multiple lentigines
OrphaCode: 500
DisorderType: Malformation syndrome
Name: Cardiofaciocutaneous syndrome
OrphaCode: 1340
DisorderType: Malformation syndrome
Name: Noonan syndrome-like disorder with loose anagen hair
OrphaCode: 2701
DisorderType: Malformation syndrome
Name: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
OrphaCode: 363972
DisorderType: Malformation syndrome
Name: Neurofibromatosis-Noonan syndrome
OrphaCode: 638
DisorderType: Malformation syndrome
Name: King-Denborough syndrome
OrphaCode: 99741
DisorderType: Malformation syndrome
Name: Biemond syndrome type 2
OrphaCode: 141333
DisorderType: Disease
Name: Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
OrphaCode: 217026
DisorderType: Malformation syndrome
Name: Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
OrphaCode: 352712
DisorderType: Disease
Name: Short stature-optic atrophy-Pelger-Huët anomaly syndrome
OrphaCode: 391677
DisorderType: Malformation syndrome
Name: Cono-spondylar dysplasia
OrphaCode: 420794
DisorderType: Malformation syndrome
Name: Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
OrphaCode: 423306
DisorderType: Malformation syndrome
Name: Colobomatous microphthalmia-rhizomelic dysplasia syndrome
OrphaCode: 424099
DisorderType: Malformation syndrome
Name: X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
OrphaCode: 431140
DisorderType: Malformation syndrome
Name: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
OrphaCode: 444077
DisorderType: Malformation syndrome
Name: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
OrphaCode: 459061
DisorderType: Malformation syndrome
Name: Eng-Strom syndrome
OrphaCode: 1937
DisorderType: Malformation syndrome
Name: 1p35.2 microdeletion syndrome
OrphaCode: 456298
DisorderType: Malformation syndrome
Name: KBG syndrome
OrphaCode: 2332
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-short stature-overweight syndrome
OrphaCode: 457240
DisorderType: Malformation syndrome
Name: Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
OrphaCode: 457365
DisorderType: Malformation syndrome
Name: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
OrphaCode: 457395
DisorderType: Malformation syndrome
Name: Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
OrphaCode: 397623
DisorderType: Malformation syndrome
Name: Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
OrphaCode: 1964
DisorderType: Malformation syndrome
Name: Transketolase deficiency
OrphaCode: 488618
DisorderType: Malformation syndrome
Name: Hallermann-Streiff-like syndrome
OrphaCode: 2109
DisorderType: Malformation syndrome
Name: X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
OrphaCode: 480880
DisorderType: Malformation syndrome
Name: Hydrocephalus-obesity-hypogonadism syndrome
OrphaCode: 2183
DisorderType: Malformation syndrome
Name: Oculo-palato-cerebral syndrome
OrphaCode: 2714
DisorderType: Malformation syndrome
Name: 8q24.3 microdeletion syndrome
OrphaCode: 508488
DisorderType: Malformation syndrome
Name: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
OrphaCode: 508498
DisorderType: Malformation syndrome
Name: Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
OrphaCode: 494439
DisorderType: Malformation syndrome
Name: Congenital generalized hypercontractile muscle stiffness syndrome
OrphaCode: 476406
DisorderType: Disease
Name: DONSON-related microcephaly-short stature-limb abnormalities spectrum
OrphaCode: 572761
DisorderType: Malformation syndrome
Children: Name: Microcephaly-micromelia syndrome
OrphaCode: 572768
DisorderType: Clinical subtype
Name: Microcephaly-short stature-limb abnormalities syndrome
OrphaCode: 572773
DisorderType: Clinical subtype
Name: Subaortic stenosis-short stature syndrome
OrphaCode: 3191
DisorderType: Malformation syndrome
Name: QRICH1-related intellectual disability-chondrodysplasia syndrome
OrphaCode: 580940
DisorderType: Malformation syndrome
Name: Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
OrphaCode: 589442
DisorderType: Malformation syndrome
Name: Werner syndrome
OrphaCode: 902
DisorderType: Disease
Name: Aplastic anemia-intellectual disability-dwarfism syndrome
OrphaCode: 611216
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
OrphaCode: 611207
DisorderType: Clinical syndrome
Name: Menke-Hennekam syndrome
OrphaCode: 592574
DisorderType: Malformation syndrome
Name: KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome
OrphaCode: 633004
DisorderType: Disease
Name: Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome
OrphaCode: 659702
DisorderType: Malformation syndrome
Name: MGP-related spondyloepiphyseal dysplasia
OrphaCode: 664377
DisorderType: Malformation syndrome
Name: Rauch-Steindl syndrome
OrphaCode: 659642
DisorderType: Clinical subtype
Name: Overgrowth/obesity syndrome
OrphaCode: 139024
DisorderType: Category
Children: Name: Overgrowth syndrome
OrphaCode: 93460
DisorderType: Category
Children: Name: Beckwith-Wiedemann syndrome
OrphaCode: 116
DisorderType: Malformation syndrome
Children: Name: Beckwith-Wiedemann syndrome due to 11p15 microduplication
OrphaCode: 96076
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
OrphaCode: 96193
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
OrphaCode: 231117
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to CDKN1C mutation
OrphaCode: 231120
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion
OrphaCode: 231127
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
OrphaCode: 231130
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to NSD1 mutation
OrphaCode: 238613
DisorderType: Etiological subtype
Name: Angioosteohypertrophic syndrome
OrphaCode: 2346
DisorderType: Clinical group
Children: Name: Parkes Weber syndrome
OrphaCode: 90307
DisorderType: Disease
Name: Klippel-Trénaunay syndrome
OrphaCode: 90308
DisorderType: Disease
Name: Proteus syndrome
OrphaCode: 744
DisorderType: Malformation syndrome
Name: Sotos syndrome
OrphaCode: 821
DisorderType: Disease
Name: Sturge-Weber syndrome
OrphaCode: 3205
DisorderType: Malformation syndrome
Name: Simpson-Golabi-Behmel syndrome
OrphaCode: 373
DisorderType: Malformation syndrome
Name: Bannayan-Riley-Ruvalcaba syndrome
OrphaCode: 109
DisorderType: Malformation syndrome
Name: Diabetic embryopathy
OrphaCode: 1926
DisorderType: Malformation syndrome
Name: Isolated hemihyperplasia
OrphaCode: 2128
DisorderType: Morphological anomaly
Name: Ollier disease
OrphaCode: 296
DisorderType: Disease
Name: Marshall-Smith syndrome
OrphaCode: 561
DisorderType: Malformation syndrome
Name: Perlman syndrome
OrphaCode: 2849
DisorderType: Malformation syndrome
Name: Neuroectodermal melanolysosomal disease
OrphaCode: 33445
DisorderType: Malformation syndrome
Name: Chromosomal disease with overgrowth
OrphaCode: 93461
DisorderType: Category
Children: Name: Tetrasomy 12p
OrphaCode: 884
DisorderType: Malformation syndrome
Name: Trisomy 5p
OrphaCode: 1742
DisorderType: Malformation syndrome
Name: 4p16.3 microduplication syndrome
OrphaCode: 96072
DisorderType: Malformation syndrome
Name: 15q overgrowth syndrome
OrphaCode: 314585
DisorderType: Malformation syndrome
Children: Name: Distal duplication 15q
OrphaCode: 1707
DisorderType: Etiological subtype
Name: Distal triplication 15q
OrphaCode: 314588
DisorderType: Etiological subtype
Name: Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
OrphaCode: 137608
DisorderType: Malformation syndrome
Name: Overgrowth-macrocephaly-facial dysmorphism syndrome
OrphaCode: 137634
DisorderType: Malformation syndrome
Name: Maffucci syndrome
OrphaCode: 163634
DisorderType: Disease
Name: Hypoinsulinemic hypoglycemia and body hemihypertrophy
OrphaCode: 293964
DisorderType: Disease
Name: Tatton-Brown-Rahman syndrome
OrphaCode: 404443
DisorderType: Malformation syndrome
Name: 11p15.4 microduplication syndrome
OrphaCode: 300305
DisorderType: Malformation syndrome
Name: Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
OrphaCode: 404476
DisorderType: Malformation syndrome
Name: Malan overgrowth syndrome
OrphaCode: 420179
DisorderType: Malformation syndrome
Name: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
OrphaCode: 457359
DisorderType: Malformation syndrome
Name: Luscan-Lumish syndrome
OrphaCode: 597738
DisorderType: Malformation syndrome
Name: PIK3CA-related overgrowth syndrome
OrphaCode: 530313
DisorderType: Clinical group
Children: Name: Megalencephaly-capillary malformation-polymicrogyria syndrome
OrphaCode: 60040
DisorderType: Malformation syndrome
Name: Hemihyperplasia-multiple lipomatosis syndrome
OrphaCode: 276280
DisorderType: Malformation syndrome
Name: Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
OrphaCode: 314662
DisorderType: Disease
Name: CLOVES syndrome
OrphaCode: 140944
DisorderType: Malformation syndrome
Name: Hemimegalencephaly
OrphaCode: 99802
DisorderType: Malformation syndrome
Name: Macrodactyly of fingers, unilateral
OrphaCode: 295239
DisorderType: Clinical subtype
Name: Macrodactyly of toes, unilateral
OrphaCode: 295243
DisorderType: Clinical subtype
Name: Congenital infiltrating lipomatosis of the face
OrphaCode: 583097
DisorderType: Disease
Name: CLAPO syndrome
OrphaCode: 168984
DisorderType: Malformation syndrome
Name: CHD8 overgrowth syndrome
OrphaCode: 642675
DisorderType: Disease
Name: PRC-2 complex-related overgrowth spectrum
OrphaCode: 659387
DisorderType: Clinical group
Children: Name: Cohen-Gibson syndrome
OrphaCode: 659396
DisorderType: Malformation syndrome
Name: Weaver syndrome
OrphaCode: 3447
DisorderType: Malformation syndrome
Name: Imagawa-Matsumoto syndrome
OrphaCode: 659463
DisorderType: Malformation syndrome
Name: Syndromic obesity
OrphaCode: 240371
DisorderType: Category
Children: Name: Smith-Magenis syndrome
OrphaCode: 819
DisorderType: Malformation syndrome
Name: Fragile X syndrome
OrphaCode: 908
DisorderType: Malformation syndrome
Name: Prader-Willi syndrome
OrphaCode: 739
DisorderType: Disease
Children: Name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
OrphaCode: 98754
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal 15q11q13 deletion
OrphaCode: 98793
DisorderType: Etiological subtype
Children: Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
OrphaCode: 177901
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
OrphaCode: 177904
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to translocation
OrphaCode: 177907
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to imprinting mutation
OrphaCode: 177910
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome
OrphaCode: 783
DisorderType: Malformation syndrome
Children: Name: Rubinstein-Taybi syndrome due to CREBBP mutations
OrphaCode: 353277
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
OrphaCode: 353281
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
OrphaCode: 353284
DisorderType: Etiological subtype
Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: Coffin-Lowry syndrome
OrphaCode: 192
DisorderType: Malformation syndrome
Name: Cohen syndrome
OrphaCode: 193
DisorderType: Malformation syndrome
Name: Symptomatic form of Coffin-Lowry syndrome in female carriers
OrphaCode: 276630
DisorderType: Malformation syndrome
Name: Pseudohypoparathyroidism with Albright hereditary osteodystrophy
OrphaCode: 457059
DisorderType: Clinical group
Children: Name: Pseudohypoparathyroidism type 1A
OrphaCode: 79443
DisorderType: Disease
Name: Pseudohypoparathyroidism type 1C
OrphaCode: 79444
DisorderType: Disease
Name: Pseudopseudohypoparathyroidism
OrphaCode: 79445
DisorderType: Disease
Name: Alström syndrome
OrphaCode: 64
DisorderType: Disease
Name: Borjeson-Forssman-Lehmann syndrome
OrphaCode: 127
DisorderType: Malformation syndrome
Name: Xq21 microdeletion syndrome
OrphaCode: 1435
DisorderType: Malformation syndrome
Name: MOMO syndrome
OrphaCode: 2563
DisorderType: Malformation syndrome
Name: Short stature-brachydactyly-obesity-global developmental delay syndrome
OrphaCode: 464288
DisorderType: Malformation syndrome
Name: Wilson-Turner syndrome
OrphaCode: 3459
DisorderType: Malformation syndrome
Name: Hydrocephalus-obesity-hypogonadism syndrome
OrphaCode: 2183
DisorderType: Malformation syndrome
Name: Bardet-Biedl syndrome
OrphaCode: 110
DisorderType: Disease
Name: Microcephalic osteodysplastic primordial dwarfism type II
OrphaCode: 2637
DisorderType: Malformation syndrome
Name: Carpenter syndrome
OrphaCode: 65759
DisorderType: Malformation syndrome
Name: MORM syndrome
OrphaCode: 75858
DisorderType: Disease
Name: MEHMO syndrome
OrphaCode: 85282
DisorderType: Malformation syndrome
Name: Distal 16p11.2 microdeletion syndrome
OrphaCode: 261222
DisorderType: Malformation syndrome
Name: Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
OrphaCode: 352530
DisorderType: Disease
Name: Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
OrphaCode: 363741
DisorderType: Disease
Name: Intellectual disability-seizures-macrocephaly-obesity syndrome
OrphaCode: 369950
DisorderType: Disease
Name: Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
OrphaCode: 397973
DisorderType: Disease
Name: Prader-Willi-like syndrome
OrphaCode: 398073
DisorderType: Clinical group
Children: Name: CPE-related Prader-Willi-like syndrome
OrphaCode: 633028
DisorderType: Disease
Name: 6q16 microdeletion syndrome
OrphaCode: 171829
DisorderType: Disease
Name: SIM1-related Prader-Willi-like syndrome
OrphaCode: 398079
DisorderType: Disease
Name: MAGEL2-related Prader-Willi-like syndrome
OrphaCode: 398069
DisorderType: Disease
Name: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
OrphaCode: 444077
DisorderType: Malformation syndrome
Name: Early-onset obesity-hyperphagia-severe developmental delay syndrome
OrphaCode: 99704
DisorderType: Disease
Name: Temple syndrome
OrphaCode: 254516
DisorderType: Malformation syndrome
Children: Name: Temple syndrome due to maternal uniparental disomy of chromosome 14
OrphaCode: 96184
DisorderType: Etiological subtype
Name: Temple syndrome due to paternal 14q32.2 microdeletion
OrphaCode: 254525
DisorderType: Etiological subtype
Name: Temple syndrome due to paternal 14q32.2 hypomethylation
OrphaCode: 254531
DisorderType: Etiological subtype
Name: Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
OrphaCode: 521390
DisorderType: Malformation syndrome
Name: PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
OrphaCode: 589905
DisorderType: Disease
Name: Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome
OrphaCode: 652487
DisorderType: Malformation syndrome
Name: Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
OrphaCode: 293987
DisorderType: Disease
Name: Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
OrphaCode: 620363
DisorderType: Disease
Name: Clark-Baraitser syndrome
OrphaCode: 600731
DisorderType: Malformation syndrome
Name: MYT1L-related developmental delay-intellectual disability-obesity syndrome
OrphaCode: 647799
DisorderType: Disease
Name: Rare developmental defect with skin/mucosae involvement
OrphaCode: 139027
DisorderType: Category
Children: Name: Ehlers-Danlos/osteogenesis imperfecta syndrome
OrphaCode: 230857
DisorderType: Disease
Name: Ataxia-telangiectasia
OrphaCode: 100
DisorderType: Disease
Name: Hereditary hemorrhagic telangiectasia
OrphaCode: 774
DisorderType: Disease
Name: Costello syndrome
OrphaCode: 3071
DisorderType: Malformation syndrome
Name: Cockayne syndrome
OrphaCode: 191
DisorderType: Disease
Children: Name: COFS syndrome
OrphaCode: 1466
DisorderType: Clinical subtype
Name: Cockayne syndrome type 1
OrphaCode: 90321
DisorderType: Clinical subtype
Name: Cockayne syndrome type 2
OrphaCode: 90322
DisorderType: Clinical subtype
Name: Cockayne syndrome type 3
OrphaCode: 90324
DisorderType: Clinical subtype
Name: Waardenburg syndrome
OrphaCode: 3440
DisorderType: Disease
Children: Name: Waardenburg syndrome type 1
OrphaCode: 894
DisorderType: Clinical subtype
Name: Waardenburg syndrome type 2
OrphaCode: 895
DisorderType: Clinical subtype
Name: Waardenburg syndrome type 3
OrphaCode: 896
DisorderType: Clinical subtype
Name: Werner syndrome
OrphaCode: 902
DisorderType: Disease
Name: Bazex-Dupré-Christol syndrome
OrphaCode: 113
DisorderType: Disease
Name: Noonan syndrome with multiple lentigines
OrphaCode: 500
DisorderType: Malformation syndrome
Name: Acrodermatitis enteropathica
OrphaCode: 37
DisorderType: Disease
Name: Aplasia cutis congenita-intestinal lymphangiectasia syndrome
OrphaCode: 1116
DisorderType: Disease
Name: Aplasia cutis-myopia syndrome
OrphaCode: 1117
DisorderType: Disease
Name: Ascher syndrome
OrphaCode: 1253
DisorderType: Malformation syndrome
Name: Restrictive dermopathy
OrphaCode: 1662
DisorderType: Disease
Name: Infantile systemic hyalinosis
OrphaCode: 2176
DisorderType: Clinical subtype
Name: CHILD syndrome
OrphaCode: 139
DisorderType: Disease
Name: Ichthyosis-oral and digital anomalies syndrome
OrphaCode: 2272
DisorderType: Malformation syndrome
Name: Ichthyosis follicularis-alopecia-photophobia syndrome
OrphaCode: 2273
DisorderType: Disease
Name: Pachyonychia congenita
OrphaCode: 2309
DisorderType: Disease
Name: Microphthalmia with linear skin defects syndrome
OrphaCode: 2556
DisorderType: Malformation syndrome
Name: Hutchinson-Gilford progeria syndrome
OrphaCode: 740
DisorderType: Disease
Name: Progeria-short stature-pigmented nevi syndrome
OrphaCode: 2959
DisorderType: Malformation syndrome
Name: Wiedemann-Rautenstrauch syndrome
OrphaCode: 3455
DisorderType: Malformation syndrome
Name: Xeroderma pigmentosum
OrphaCode: 910
DisorderType: Disease
Name: Cutis laxa
OrphaCode: 209
DisorderType: Clinical group
Children: Name: Geroderma osteodysplastica
OrphaCode: 2078
DisorderType: Malformation syndrome
Name: De Barsy syndrome
OrphaCode: 2962
DisorderType: Disease
Children: Name: ALDH18A1-related De Barsy syndrome
OrphaCode: 35664
DisorderType: Etiological subtype
Name: PYCR1-related De Barsy syndrome
OrphaCode: 293633
DisorderType: Etiological subtype
Name: SCARF syndrome
OrphaCode: 3134
DisorderType: Malformation syndrome
Name: Arterial tortuosity syndrome
OrphaCode: 3342
DisorderType: Malformation syndrome
Name: Occipital horn syndrome
OrphaCode: 198
DisorderType: Disease
Name: Autosomal dominant cutis laxa
OrphaCode: 90348
DisorderType: Disease
Name: Autosomal recessive cutis laxa type 1
OrphaCode: 90349
DisorderType: Disease
Name: Autosomal recessive cutis laxa type 2
OrphaCode: 90350
DisorderType: Clinical group
Children: Name: Autosomal recessive cutis laxa type 2A
OrphaCode: 357058
DisorderType: Disease
Children: Name: Wrinkly skin syndrome
OrphaCode: 2834
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2, classic type
OrphaCode: 357074
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2B
OrphaCode: 357064
DisorderType: Disease
Name: RIN2 syndrome
OrphaCode: 217335
DisorderType: Malformation syndrome
Name: Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
OrphaCode: 221145
DisorderType: Malformation syndrome
Name: Craniofaciofrontodigital syndrome
OrphaCode: 363705
DisorderType: Disease
Name: Lethal arteriopathy syndrome due to fibulin-4 deficiency
OrphaCode: 314718
DisorderType: Disease
Name: Familial articular hypermobility syndrome
OrphaCode: 2295
DisorderType: Disease
Name: Pseudoxanthoma elasticum
OrphaCode: 758
DisorderType: Disease
Name: Epidermolysis bullosa simplex with muscular dystrophy
OrphaCode: 257
DisorderType: Disease
Name: Junctional epidermolysis bullosa
OrphaCode: 305
DisorderType: Clinical group
Children: Name: Laryngo-onycho-cutaneous syndrome
OrphaCode: 2407
DisorderType: Disease
Name: Junctional epidermolysis bullosa with pyloric atresia
OrphaCode: 79403
DisorderType: Disease
Name: Severe generalized junctional epidermolysis bullosa
OrphaCode: 79404
DisorderType: Disease
Name: Junctional epidermolysis bullosa inversa
OrphaCode: 79405
DisorderType: Disease
Name: Late-onset junctional epidermolysis bullosa
OrphaCode: 79406
DisorderType: Disease
Name: Localized junctional epidermolysis bullosa
OrphaCode: 251393
DisorderType: Disease
Name: Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
OrphaCode: 231556
DisorderType: Disease
Name: Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
OrphaCode: 306504
DisorderType: Disease
Name: Intermediate generalized junctional epidermolysis bullosa
OrphaCode: 79402
DisorderType: Disease
Name: Dystrophic epidermolysis bullosa
OrphaCode: 303
DisorderType: Clinical group
Children: Name: Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
OrphaCode: 79408
DisorderType: Disease
Name: Recessive dystrophic epidermolysis bullosa inversa
OrphaCode: 79409
DisorderType: Disease
Name: Localized dystrophic epidermolysis bullosa
OrphaCode: 595356
DisorderType: Disease
Children: Name: Localized dystrophic epidermolysis bullosa, pretibial form
OrphaCode: 79410
DisorderType: Clinical subtype
Name: Localized dystrophic epidermolysis bullosa, acral form
OrphaCode: 158673
DisorderType: Clinical subtype
Name: Localized dystrophic epidermolysis bullosa, nails only
OrphaCode: 158676
DisorderType: Clinical subtype
Name: Self-improving dystrophic epidermolysis bullosa
OrphaCode: 79411
DisorderType: Disease
Name: Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
OrphaCode: 89842
DisorderType: Disease
Name: Dystrophic epidermolysis bullosa pruriginosa
OrphaCode: 89843
DisorderType: Disease
Name: Autosomal dominant generalized dystrophic epidermolysis bullosa
OrphaCode: 231568
DisorderType: Disease
Name: Lipoid proteinosis
OrphaCode: 530
DisorderType: Malformation syndrome
Name: Neuroectodermal melanolysosomal disease
OrphaCode: 33445
DisorderType: Malformation syndrome
Name: Isolated congenital anonychia
OrphaCode: 79143
DisorderType: Disease
Children: Name: Anonychia-onychodystrophy syndrome
OrphaCode: 90390
DisorderType: Clinical subtype
Name: Anonychia congenita totalis
OrphaCode: 94150
DisorderType: Clinical subtype
Name: Ectodermal dysplasia syndrome
OrphaCode: 79373
DisorderType: Category
Children: Name: Arthrogryposis-ectodermal dysplasia syndrome
OrphaCode: 3200
DisorderType: Malformation syndrome
Name: Ellis Van Creveld syndrome
OrphaCode: 289
DisorderType: Malformation syndrome
Name: Incontinentia pigmenti
OrphaCode: 464
DisorderType: Malformation syndrome
Name: Dubowitz syndrome
OrphaCode: 235
DisorderType: Malformation syndrome
Name: Dyskeratosis congenita
OrphaCode: 1775
DisorderType: Disease
Name: KID syndrome
OrphaCode: 477
DisorderType: Disease
Name: Marshall syndrome
OrphaCode: 560
DisorderType: Malformation syndrome
Name: Hidrotic ectodermal dysplasia
OrphaCode: 189
DisorderType: Disease
Name: Amelocerebrohypohidrotic syndrome
OrphaCode: 1946
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Weyers type
OrphaCode: 952
DisorderType: Malformation syndrome
Name: Alopecia-contractures-dwarfism-intellectual disability syndrome
OrphaCode: 1005
DisorderType: Malformation syndrome
Name: Autosomal dominant palmoplantar keratoderma and congenital alopecia
OrphaCode: 1010
DisorderType: Disease
Name: Amelo-onycho-hypohidrotic syndrome
OrphaCode: 1028
DisorderType: Malformation syndrome
Name: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
OrphaCode: 1071
DisorderType: Malformation syndrome
Children: Name: Ankyloblepharon filiforme adnatum-cleft palate syndrome
OrphaCode: 1072
DisorderType: Clinical subtype
Name: Ankyloblepharon filiforme adnatum-imperforate anus syndrome
OrphaCode: 1074
DisorderType: Clinical subtype
Name: AREDYLD syndrome
OrphaCode: 1133
DisorderType: Malformation syndrome
Name: Cerebellar ataxia-ectodermal dysplasia syndrome
OrphaCode: 1174
DisorderType: Malformation syndrome
Name: Bartsocas-Papas syndrome
OrphaCode: 1234
DisorderType: Malformation syndrome
Name: Böök syndrome
OrphaCode: 1262
DisorderType: Malformation syndrome
Name: Tricho-retino-dento-digital syndrome
OrphaCode: 1264
DisorderType: Malformation syndrome
Name: Cardiofaciocutaneous syndrome
OrphaCode: 1340
DisorderType: Malformation syndrome
Name: Autosomal recessive palmoplantar keratoderma and congenital alopecia
OrphaCode: 1366
DisorderType: Disease
Name: Cataract-hypertrichosis-intellectual disability syndrome
OrphaCode: 1375
DisorderType: Malformation syndrome
Name: Choroidal atrophy-alopecia syndrome
OrphaCode: 1433
DisorderType: Malformation syndrome
Name: Contractures-ectodermal dysplasia-cleft lip/palate syndrome
OrphaCode: 1484
DisorderType: Malformation syndrome
Name: Cranioectodermal dysplasia
OrphaCode: 1515
DisorderType: Malformation syndrome
Name: Dahlberg-Borer-Newcomer syndrome
OrphaCode: 1563
DisorderType: Malformation syndrome
Name: Hypotrichosis with juvenile macular degeneration
OrphaCode: 1573
DisorderType: Malformation syndrome
Name: Dermatoosteolysis, Kirghizian type
OrphaCode: 1657
DisorderType: Malformation syndrome
Name: Dermoodontodysplasia
OrphaCode: 1660
DisorderType: Malformation syndrome
Name: Barber-Say syndrome
OrphaCode: 1231
DisorderType: Malformation syndrome
Name: Thumb deformity-alopecia-pigmentation anomaly syndrome
OrphaCode: 2251
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia-blindness syndrome
OrphaCode: 1806
DisorderType: Malformation syndrome
Name: Hidrotic ectodermal dysplasia, Christianson-Fourie type
OrphaCode: 1808
DisorderType: Malformation syndrome
Name: Hidrotic ectodermal dysplasia, Halal type
OrphaCode: 1809
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
OrphaCode: 1812
DisorderType: Malformation syndrome
Name: Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
OrphaCode: 1882
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia-sensorineural deafness syndrome
OrphaCode: 1883
DisorderType: Malformation syndrome
Name: Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
OrphaCode: 1816
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia, trichoodontoonychial type
OrphaCode: 1818
DisorderType: Malformation syndrome
Name: EEM syndrome
OrphaCode: 1897
DisorderType: Malformation syndrome
Name: Blepharo-cheilo-odontic syndrome
OrphaCode: 1997
DisorderType: Malformation syndrome
Name: Gingival fibromatosis-hypertrichosis syndrome
OrphaCode: 2026
DisorderType: Malformation syndrome
Name: Scalp-ear-nipple syndrome
OrphaCode: 2036
DisorderType: Malformation syndrome
Name: GAPO syndrome
OrphaCode: 2067
DisorderType: Malformation syndrome
Name: Focal dermal hypoplasia
OrphaCode: 2092
DisorderType: Malformation syndrome
Name: Gorlin-Chaudhry-Moss syndrome
OrphaCode: 2095
DisorderType: Malformation syndrome
Name: Hallermann-Streiff syndrome
OrphaCode: 2108
DisorderType: Malformation syndrome
Name: Hypertrichosis cubiti
OrphaCode: 2220
DisorderType: Malformation syndrome
Name: Hypertrichosis lanuginosa congenita
OrphaCode: 2222
DisorderType: Disease
Children: Name: Congenital generalized hypertrichosis, Ambras type
OrphaCode: 1023
DisorderType: Clinical subtype
Name: X-linked congenital generalized hypertrichosis
OrphaCode: 79495
DisorderType: Clinical subtype
Name: Hypodontia-dysplasia of nails syndrome
OrphaCode: 2228
DisorderType: Malformation syndrome
Name: Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
OrphaCode: 2269
DisorderType: Disease
Name: Johanson-Blizzard syndrome
OrphaCode: 2315
DisorderType: Malformation syndrome
Name: Johnson neuroectodermal syndrome
OrphaCode: 2316
DisorderType: Malformation syndrome
Name: Pyramidal molars-abnormal upper lip syndrome
OrphaCode: 2561
DisorderType: Malformation syndrome
Name: Oculodentodigital dysplasia
OrphaCode: 2710
DisorderType: Malformation syndrome
Name: Oculoosteocutaneous syndrome
OrphaCode: 2713
DisorderType: Malformation syndrome
Name: Oculotrichodysplasia
OrphaCode: 2718
DisorderType: Malformation syndrome
Name: Odonto-onycho-dermal dysplasia
OrphaCode: 2721
DisorderType: Disease
Name: Odonto-onycho dysplasia-alopecia syndrome
OrphaCode: 2722
DisorderType: Malformation syndrome
Name: Odontotrichomelic syndrome
OrphaCode: 2723
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: Papillon-Lefèvre syndrome
OrphaCode: 678
DisorderType: Disease
Name: Pili torti-onychodysplasia syndrome
OrphaCode: 2890
DisorderType: Malformation syndrome
Name: Pilodental dysplasia-refractive errors syndrome
OrphaCode: 2892
DisorderType: Malformation syndrome
Name: Cronkhite-Canada syndrome
OrphaCode: 2930
DisorderType: Disease
Name: Schinzel-Giedion syndrome
OrphaCode: 798
DisorderType: Malformation syndrome
Name: Corneodermatoosseous syndrome
OrphaCode: 3194
DisorderType: Malformation syndrome
Name: Deafness-enamel hypoplasia-nail defects syndrome
OrphaCode: 3220
DisorderType: Malformation syndrome
Name: Deafness-onychodystrophy syndrome
OrphaCode: 3231
DisorderType: Clinical group
Children: Name: Autosomal dominant deafness-onychodystrophy syndrome
OrphaCode: 79499
DisorderType: Malformation syndrome
Name: DOORS syndrome
OrphaCode: 79500
DisorderType: Malformation syndrome
Name: Conductive deafness-ptosis-skeletal anomalies syndrome
OrphaCode: 3236
DisorderType: Malformation syndrome
Name: Teebi-Shaltout syndrome
OrphaCode: 3291
DisorderType: Malformation syndrome
Name: Oculoectodermal syndrome
OrphaCode: 3339
DisorderType: Malformation syndrome
Name: Trichodental syndrome
OrphaCode: 3351
DisorderType: Malformation syndrome
Name: Tricho-dento-osseous syndrome
OrphaCode: 3352
DisorderType: Malformation syndrome
Name: Trichodermodysplasia-dental alterations syndrome
OrphaCode: 3353
DisorderType: Malformation syndrome
Name: Trichoodontoonychial dysplasia
OrphaCode: 3355
DisorderType: Malformation syndrome
Name: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
OrphaCode: 3363
DisorderType: Malformation syndrome
Name: CHIME syndrome
OrphaCode: 3474
DisorderType: Malformation syndrome
Name: Cartilage-hair hypoplasia
OrphaCode: 175
DisorderType: Disease
Name: Trichothiodystrophy
OrphaCode: 33364
DisorderType: Disease
Name: Schöpf-Schulz-Passarge syndrome
OrphaCode: 50944
DisorderType: Disease
Name: Carvajal syndrome
OrphaCode: 65282
DisorderType: Disease
Name: Odonto-tricho-ungual-digito-palmar syndrome
OrphaCode: 69082
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia with natal teeth, Turnpenny type
OrphaCode: 69083
DisorderType: Malformation syndrome
Name: Pure hair and nail ectodermal dysplasia
OrphaCode: 69084
DisorderType: Malformation syndrome
Name: Naegeli-Franceschetti-Jadassohn syndrome
OrphaCode: 69087
DisorderType: Disease
Name: Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
OrphaCode: 69088
DisorderType: Disease
Name: Anonychia with flexural pigmentation
OrphaCode: 69125
DisorderType: Malformation syndrome
Name: Trichodysplasia-amelogenesis imperfecta syndrome
OrphaCode: 79129
DisorderType: Malformation syndrome
Name: Dermatopathia pigmentosa reticularis
OrphaCode: 86920
DisorderType: Disease
Name: EEC syndrome and related disorders
OrphaCode: 98609
DisorderType: Category
Children: Name: ADULT syndrome
OrphaCode: 978
DisorderType: Malformation syndrome
Name: EEC syndrome
OrphaCode: 1896
DisorderType: Malformation syndrome
Name: Lacrimoauriculodentodigital syndrome
OrphaCode: 2363
DisorderType: Malformation syndrome
Name: Limb-mammary syndrome
OrphaCode: 69085
DisorderType: Malformation syndrome
Name: Fried's tooth and nail syndrome
OrphaCode: 99672
DisorderType: Malformation syndrome
Name: Dermotrichic syndrome
OrphaCode: 99688
DisorderType: Malformation syndrome
Name: Lelis syndrome
OrphaCode: 140936
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia-skin fragility syndrome
OrphaCode: 158668
DisorderType: Disease
Name: Hypohidrotic ectodermal dysplasia
OrphaCode: 238468
DisorderType: Disease
Children: Name: X-linked hypohidrotic ectodermal dysplasia
OrphaCode: 181
DisorderType: Etiological subtype
Name: Autosomal recessive hypohidrotic ectodermal dysplasia
OrphaCode: 248
DisorderType: Etiological subtype
Name: Autosomal dominant hypohidrotic ectodermal dysplasia
OrphaCode: 1810
DisorderType: Etiological subtype
Name: Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome
OrphaCode: 247820
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome
OrphaCode: 247827
DisorderType: Malformation syndrome
Name: Curly hair-acral keratoderma-caries syndrome
OrphaCode: 307766
DisorderType: Disease
Name: Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
OrphaCode: 307936
DisorderType: Disease
Name: Chondroectodermal dysplasia with night blindness
OrphaCode: 319195
DisorderType: Disease
Name: Cleft lip/palate-ectodermal dysplasia syndrome
OrphaCode: 3253
DisorderType: Malformation syndrome
Name: Trichorhinophalangeal syndrome
OrphaCode: 324764
DisorderType: Clinical group
Children: Name: Trichorhinophalangeal syndrome type 2
OrphaCode: 502
DisorderType: Malformation syndrome
Name: Trichorhinophalangeal syndrome type 1
OrphaCode: 77258
DisorderType: Malformation syndrome
Name: Focal facial dermal dysplasia
OrphaCode: 398166
DisorderType: Malformation syndrome
Children: Name: Focal facial dermal dysplasia type III
OrphaCode: 1807
DisorderType: Clinical subtype
Name: Focal facial dermal dysplasia type I
OrphaCode: 79133
DisorderType: Clinical subtype
Name: Focal facial dermal dysplasia type II
OrphaCode: 398173
DisorderType: Clinical subtype
Name: Focal facial dermal dysplasia type IV
OrphaCode: 398189
DisorderType: Clinical subtype
Name: Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
OrphaCode: 423454
DisorderType: Disease
Name: CHAND syndrome
OrphaCode: 1401
DisorderType: Malformation syndrome
Name: Hallermann-Streiff-like syndrome
OrphaCode: 2109
DisorderType: Malformation syndrome
Name: Skin fragility-woolly hair-palmoplantar keratoderma syndrome
OrphaCode: 293165
DisorderType: Disease
Name: Hypotrichosis-intellectual disability, Lopes type
OrphaCode: 2266
DisorderType: Disease
Name: Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
OrphaCode: 447961
DisorderType: Disease
Name: Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
OrphaCode: 589608
DisorderType: Disease
Name: Hypohidrotic ectodermal dysplasia with immunodeficiency
OrphaCode: 98813
DisorderType: Disease
Name: Ehlers-Danlos syndrome
OrphaCode: 98249
DisorderType: Clinical group
Children: Name: Classical Ehlers-Danlos syndrome
OrphaCode: 287
DisorderType: Disease
Name: Musculocontractural Ehlers-Danlos syndrome
OrphaCode: 2953
DisorderType: Disease
Name: Hypermobile Ehlers-Danlos syndrome
OrphaCode: 285
DisorderType: Disease
Name: Vascular Ehlers-Danlos syndrome
OrphaCode: 286
DisorderType: Disease
Name: Kyphoscoliotic Ehlers-Danlos syndrome
OrphaCode: 536545
DisorderType: Disease
Children: Name: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
OrphaCode: 1900
DisorderType: Clinical subtype
Name: Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
OrphaCode: 300179
DisorderType: Clinical subtype
Name: Arthrochalasia Ehlers-Danlos syndrome
OrphaCode: 1899
DisorderType: Disease
Name: Dermatosparaxis Ehlers-Danlos syndrome
OrphaCode: 1901
DisorderType: Disease
Name: Periodontal Ehlers-Danlos syndrome
OrphaCode: 75392
DisorderType: Disease
Name: Spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 536471
DisorderType: Disease
Children: Name: B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 75496
DisorderType: Clinical subtype
Name: B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 536467
DisorderType: Clinical subtype
Name: SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 157965
DisorderType: Clinical subtype
Name: X-linked Ehlers-Danlos syndrome
OrphaCode: 75497
DisorderType: Disease
Name: Brittle cornea syndrome
OrphaCode: 90354
DisorderType: Disease
Name: Myopathic Ehlers-Danlos syndrome
OrphaCode: 536516
DisorderType: Disease
Name: Classical-like Ehlers-Danlos syndrome type 1
OrphaCode: 230839
DisorderType: Disease
Name: Cardiac-valvular Ehlers-Danlos syndrome
OrphaCode: 230851
DisorderType: Disease
Name: Classical-like Ehlers-Danlos syndrome type 2
OrphaCode: 536532
DisorderType: Disease
Name: Vascular Ehlers-Danlos-polymicrogyria syndrome
OrphaCode: 636941
DisorderType: Disease
Name: Xeroderma pigmentosum-Cockayne syndrome complex
OrphaCode: 220295
DisorderType: Disease
Name: Isolated congenital adermatoglyphia
OrphaCode: 289465
DisorderType: Disease
Name: Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
OrphaCode: 352712
DisorderType: Disease
Name: Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
OrphaCode: 363992
DisorderType: Disease
Name: PCNA-related progressive neurodegenerative photosensitivity syndrome
OrphaCode: 438134
DisorderType: Disease
Name: Xeroderma pigmentosum variant
OrphaCode: 90342
DisorderType: Disease
Name: Rare developmental defect with connective tissue involvement
OrphaCode: 139030
DisorderType: Category
Children: Name: Ehlers-Danlos/osteogenesis imperfecta syndrome
OrphaCode: 230857
DisorderType: Disease
Name: Marfan syndrome
OrphaCode: 558
DisorderType: Disease
Children: Name: Marfan syndrome type 1
OrphaCode: 284963
DisorderType: Clinical subtype
Name: Marfan syndrome type 2
OrphaCode: 284973
DisorderType: Clinical subtype
Name: Desbuquois syndrome
OrphaCode: 1425
DisorderType: Malformation syndrome
Name: Lethal Larsen-like syndrome
OrphaCode: 2371
DisorderType: Malformation syndrome
Name: Cutis laxa
OrphaCode: 209
DisorderType: Clinical group
Children: Name: Geroderma osteodysplastica
OrphaCode: 2078
DisorderType: Malformation syndrome
Name: De Barsy syndrome
OrphaCode: 2962
DisorderType: Disease
Children: Name: ALDH18A1-related De Barsy syndrome
OrphaCode: 35664
DisorderType: Etiological subtype
Name: PYCR1-related De Barsy syndrome
OrphaCode: 293633
DisorderType: Etiological subtype
Name: SCARF syndrome
OrphaCode: 3134
DisorderType: Malformation syndrome
Name: Arterial tortuosity syndrome
OrphaCode: 3342
DisorderType: Malformation syndrome
Name: Occipital horn syndrome
OrphaCode: 198
DisorderType: Disease
Name: Autosomal dominant cutis laxa
OrphaCode: 90348
DisorderType: Disease
Name: Autosomal recessive cutis laxa type 1
OrphaCode: 90349
DisorderType: Disease
Name: Autosomal recessive cutis laxa type 2
OrphaCode: 90350
DisorderType: Clinical group
Children: Name: Autosomal recessive cutis laxa type 2A
OrphaCode: 357058
DisorderType: Disease
Children: Name: Wrinkly skin syndrome
OrphaCode: 2834
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2, classic type
OrphaCode: 357074
DisorderType: Clinical subtype
Name: Autosomal recessive cutis laxa type 2B
OrphaCode: 357064
DisorderType: Disease
Name: RIN2 syndrome
OrphaCode: 217335
DisorderType: Malformation syndrome
Name: Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
OrphaCode: 221145
DisorderType: Malformation syndrome
Name: Craniofaciofrontodigital syndrome
OrphaCode: 363705
DisorderType: Disease
Name: Lethal arteriopathy syndrome due to fibulin-4 deficiency
OrphaCode: 314718
DisorderType: Disease
Name: Larsen syndrome
OrphaCode: 503
DisorderType: Malformation syndrome
Name: Pseudoxanthoma elasticum
OrphaCode: 758
DisorderType: Disease
Name: Grange syndrome
OrphaCode: 79094
DisorderType: Malformation syndrome
Name: Pseudodiastrophic dysplasia
OrphaCode: 85174
DisorderType: Malformation syndrome
Name: Ehlers-Danlos syndrome
OrphaCode: 98249
DisorderType: Clinical group
Children: Name: Classical Ehlers-Danlos syndrome
OrphaCode: 287
DisorderType: Disease
Name: Musculocontractural Ehlers-Danlos syndrome
OrphaCode: 2953
DisorderType: Disease
Name: Hypermobile Ehlers-Danlos syndrome
OrphaCode: 285
DisorderType: Disease
Name: Vascular Ehlers-Danlos syndrome
OrphaCode: 286
DisorderType: Disease
Name: Kyphoscoliotic Ehlers-Danlos syndrome
OrphaCode: 536545
DisorderType: Disease
Children: Name: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
OrphaCode: 1900
DisorderType: Clinical subtype
Name: Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
OrphaCode: 300179
DisorderType: Clinical subtype
Name: Arthrochalasia Ehlers-Danlos syndrome
OrphaCode: 1899
DisorderType: Disease
Name: Dermatosparaxis Ehlers-Danlos syndrome
OrphaCode: 1901
DisorderType: Disease
Name: Periodontal Ehlers-Danlos syndrome
OrphaCode: 75392
DisorderType: Disease
Name: Spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 536471
DisorderType: Disease
Children: Name: B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 75496
DisorderType: Clinical subtype
Name: B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 536467
DisorderType: Clinical subtype
Name: SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 157965
DisorderType: Clinical subtype
Name: X-linked Ehlers-Danlos syndrome
OrphaCode: 75497
DisorderType: Disease
Name: Brittle cornea syndrome
OrphaCode: 90354
DisorderType: Disease
Name: Myopathic Ehlers-Danlos syndrome
OrphaCode: 536516
DisorderType: Disease
Name: Classical-like Ehlers-Danlos syndrome type 1
OrphaCode: 230839
DisorderType: Disease
Name: Cardiac-valvular Ehlers-Danlos syndrome
OrphaCode: 230851
DisorderType: Disease
Name: Classical-like Ehlers-Danlos syndrome type 2
OrphaCode: 536532
DisorderType: Disease
Name: Vascular Ehlers-Danlos-polymicrogyria syndrome
OrphaCode: 636941
DisorderType: Disease
Name: Cutis laxa-Marfanoid syndrome
OrphaCode: 171719
DisorderType: Malformation syndrome
Name: Blindness-scoliosis-arachnodactyly syndrome
OrphaCode: 171844
DisorderType: Malformation syndrome
Name: Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
OrphaCode: 228410
DisorderType: Malformation syndrome
Children: Name: 6q25.1 microdeletion syndrome
OrphaCode: 664404
DisorderType: Etiological subtype
Name: Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation
OrphaCode: 664401
DisorderType: Etiological subtype
Name: Larsen-like syndrome, B3GAT3 type
OrphaCode: 284139
DisorderType: Malformation syndrome
Name: Connective tissue disorder due to lysyl hydroxylase-3 deficiency
OrphaCode: 300284
DisorderType: Disease
Name: Marfanoid habitus-inguinal hernia-advanced bone age syndrome
OrphaCode: 314041
DisorderType: Malformation syndrome
Name: Severe myopia-generalized joint laxity-short stature syndrome
OrphaCode: 527450
DisorderType: Malformation syndrome
Name: Familial articular hypermobility syndrome
OrphaCode: 2295
DisorderType: Disease
Name: Progeroid syndrome
OrphaCode: 139033
DisorderType: Category
Children: Name: Leprechaunism
OrphaCode: 508
DisorderType: Malformation syndrome
Name: Cockayne syndrome
OrphaCode: 191
DisorderType: Disease
Children: Name: COFS syndrome
OrphaCode: 1466
DisorderType: Clinical subtype
Name: Cockayne syndrome type 1
OrphaCode: 90321
DisorderType: Clinical subtype
Name: Cockayne syndrome type 2
OrphaCode: 90322
DisorderType: Clinical subtype
Name: Cockayne syndrome type 3
OrphaCode: 90324
DisorderType: Clinical subtype
Name: Werner syndrome
OrphaCode: 902
DisorderType: Disease
Name: Congenital generalized lipodystrophy
OrphaCode: 528
DisorderType: Disease
Name: Familial partial lipodystrophy, Dunnigan type
OrphaCode: 2348
DisorderType: Disease
Name: Mandibuloacral dysplasia
OrphaCode: 2457
DisorderType: Malformation syndrome
Children: Name: Mandibuloacral dysplasia with type A lipodystrophy
OrphaCode: 90153
DisorderType: Clinical subtype
Name: Mandibuloacral dysplasia with type B lipodystrophy
OrphaCode: 90154
DisorderType: Clinical subtype
Name: Hutchinson-Gilford progeria syndrome
OrphaCode: 740
DisorderType: Disease
Name: Progeria-short stature-pigmented nevi syndrome
OrphaCode: 2959
DisorderType: Malformation syndrome
Name: Pseudoprogeria syndrome
OrphaCode: 2985
DisorderType: Malformation syndrome
Name: Rothmund-Thomson syndrome
OrphaCode: 2909
DisorderType: Disease
Children: Name: Rothmund-Thomson syndrome type 1
OrphaCode: 221008
DisorderType: Clinical subtype
Name: Rothmund-Thomson syndrome type 2
OrphaCode: 221016
DisorderType: Clinical subtype
Name: SHORT syndrome
OrphaCode: 3163
DisorderType: Malformation syndrome
Name: Wiedemann-Rautenstrauch syndrome
OrphaCode: 3455
DisorderType: Malformation syndrome
Name: Xeroderma pigmentosum
OrphaCode: 910
DisorderType: Disease
Name: Lipodystrophy-intellectual disability-deafness syndrome
OrphaCode: 50811
DisorderType: Disease
Name: Atypical Werner syndrome
OrphaCode: 79474
DisorderType: Disease
Name: Xeroderma pigmentosum-Cockayne syndrome complex
OrphaCode: 220295
DisorderType: Disease
Name: Ogden syndrome
OrphaCode: 276432
DisorderType: Malformation syndrome
Name: Nestor-Guillermo progeria syndrome
OrphaCode: 280576
DisorderType: Malformation syndrome
Name: Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
OrphaCode: 363649
DisorderType: Disease
Name: Acroosteolysis-keloid-like lesions-premature aging syndrome
OrphaCode: 363665
DisorderType: Disease
Name: Progeroid features-hepatocellular carcinoma predisposition syndrome
OrphaCode: 435953
DisorderType: Disease
Name: PCNA-related progressive neurodegenerative photosensitivity syndrome
OrphaCode: 438134
DisorderType: Disease
Name: Wormian bones-micrognathia-abnormal dentition-progeroid syndrome
OrphaCode: 659873
DisorderType: Malformation syndrome
Name: Mandibuloacral dysplasia associated to MTX2
OrphaCode: 647667
DisorderType: Malformation syndrome
Name: Xeroderma pigmentosum variant
OrphaCode: 90342
DisorderType: Disease
Name: Branchial arch or oral-acral syndrome
OrphaCode: 139036
DisorderType: Category
Children: Name: Oculo-auriculo-vertebral spectrum
OrphaCode: 141132
DisorderType: Malformation syndrome
Name: Otopalatodigital syndrome type 2
OrphaCode: 90652
DisorderType: Malformation syndrome
Name: 22q11.2 deletion syndrome
OrphaCode: 567
DisorderType: Malformation syndrome
Name: BOR syndrome
OrphaCode: 107
DisorderType: Malformation syndrome
Name: Treacher-Collins syndrome
OrphaCode: 861
DisorderType: Malformation syndrome
Name: Nager syndrome
OrphaCode: 245
DisorderType: Malformation syndrome
Name: Charlie M syndrome
OrphaCode: 1406
DisorderType: Malformation syndrome
Name: Postaxial acrofacial dysostosis
OrphaCode: 246
DisorderType: Malformation syndrome
Name: Moebius syndrome
OrphaCode: 570
DisorderType: Disease
Name: Acrofacial dysostosis, Weyers type
OrphaCode: 952
DisorderType: Malformation syndrome
Name: Hypoglossia-hypodactyly syndrome
OrphaCode: 989
DisorderType: Malformation syndrome
Name: X-linked mandibulofacial dysostosis
OrphaCode: 1131
DisorderType: Malformation syndrome
Name: Lambert syndrome
OrphaCode: 1296
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Catania type
OrphaCode: 1786
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Rodríguez type
OrphaCode: 1788
DisorderType: Malformation syndrome
Name: Frontofacionasal dysplasia
OrphaCode: 1791
DisorderType: Malformation syndrome
Name: Splenogonadal fusion-limb defects-micrognathia syndrome
OrphaCode: 2063
DisorderType: Malformation syndrome
Name: Hypertelorism-microtia-facial clefting syndrome
OrphaCode: 2213
DisorderType: Malformation syndrome
Name: Patterson-Stevenson-Fontaine syndrome
OrphaCode: 2439
DisorderType: Malformation syndrome
Name: Oculoauriculovertebral spectrum with radial defects
OrphaCode: 2549
DisorderType: Malformation syndrome
Name: Ear-patella-short stature syndrome
OrphaCode: 2554
DisorderType: Malformation syndrome
Name: Otofaciocervical syndrome
OrphaCode: 2792
DisorderType: Malformation syndrome
Name: Wildervanck syndrome
OrphaCode: 3456
DisorderType: Malformation syndrome
Name: Otopalatodigital syndrome type 1
OrphaCode: 90650
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Palagonia type
OrphaCode: 1787
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Kennedy-Teebi type
OrphaCode: 64542
DisorderType: Malformation syndrome
Name: Mandibulofacial dysostosis-microcephaly syndrome
OrphaCode: 79113
DisorderType: Malformation syndrome
Name: Auriculocondylar syndrome
OrphaCode: 137888
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome
OrphaCode: 140997
DisorderType: Clinical group
Children: Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 2
OrphaCode: 2751
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 4
OrphaCode: 2753
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 8
OrphaCode: 2755
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 5
OrphaCode: 2919
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 11
OrphaCode: 141000
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 9
OrphaCode: 141007
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 14
OrphaCode: 434179
DisorderType: Malformation syndrome
Name: Oral-facial-digital syndrome with short stature and brachymesophalangy
OrphaCode: 508501
DisorderType: Malformation syndrome
Name: Epibulbar lipodermoid-preauricular appendage-polythelia syndrome
OrphaCode: 231742
DisorderType: Malformation syndrome
Name: Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
OrphaCode: 306542
DisorderType: Malformation syndrome
Name: Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
OrphaCode: 357158
DisorderType: Disease
Name: Malformation syndrome with odontal and/or periodontal component
OrphaCode: 139042
DisorderType: Category
Children: Name: Oculocerebral hypopigmentation syndrome, Preus type
OrphaCode: 2720
DisorderType: Malformation syndrome
Name: SATB2-associated syndrome
OrphaCode: 576278
DisorderType: Malformation syndrome
Children: Name: SATB2-associated syndrome due to a chromosomal rearrangement
OrphaCode: 251028
DisorderType: Etiological subtype
Name: SATB2-associated syndrome due to a pathogenic variant
OrphaCode: 576283
DisorderType: Etiological subtype
Name: Nance-Horan syndrome
OrphaCode: 627
DisorderType: Malformation syndrome
Name: Amelocerebrohypohidrotic syndrome
OrphaCode: 1946
DisorderType: Malformation syndrome
Name: ADULT syndrome
OrphaCode: 978
DisorderType: Malformation syndrome
Name: Enamel-renal syndrome
OrphaCode: 1031
DisorderType: Malformation syndrome
Name: Steroid dehydrogenase deficiency-dental anomalies syndrome
OrphaCode: 3196
DisorderType: Disease
Name: Cleidocranial dysplasia
OrphaCode: 1452
DisorderType: Malformation syndrome
Name: Otopalatodigital syndrome type 1
OrphaCode: 90650
DisorderType: Malformation syndrome
Name: Otopalatodigital syndrome type 2
OrphaCode: 90652
DisorderType: Malformation syndrome
Name: Dermoodontodysplasia
OrphaCode: 1660
DisorderType: Malformation syndrome
Name: Odontomicronychial dysplasia
OrphaCode: 1811
DisorderType: Malformation syndrome
Name: Jalili syndrome
OrphaCode: 1873
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia, trichoodontoonychial type
OrphaCode: 1818
DisorderType: Malformation syndrome
Name: Blepharo-cheilo-odontic syndrome
OrphaCode: 1997
DisorderType: Malformation syndrome
Name: Cleft palate-stapes fixation-oligodontia syndrome
OrphaCode: 2010
DisorderType: Malformation syndrome
Name: Gingival fibromatosis-facial dysmorphism syndrome
OrphaCode: 2025
DisorderType: Malformation syndrome
Name: Gingival fibromatosis-hypertrichosis syndrome
OrphaCode: 2026
DisorderType: Malformation syndrome
Name: Gingival fibromatosis-progressive deafness syndrome
OrphaCode: 2027
DisorderType: Malformation syndrome
Name: Juvenile hyaline fibromatosis
OrphaCode: 2028
DisorderType: Clinical subtype
Name: GAPO syndrome
OrphaCode: 2067
DisorderType: Malformation syndrome
Name: Hypodontia-dysplasia of nails syndrome
OrphaCode: 2228
DisorderType: Malformation syndrome
Name: KBG syndrome
OrphaCode: 2332
DisorderType: Malformation syndrome
Name: Haim-Munk syndrome
OrphaCode: 2342
DisorderType: Disease
Name: Lacrimoauriculodentodigital syndrome
OrphaCode: 2363
DisorderType: Malformation syndrome
Name: Pyramidal molars-abnormal upper lip syndrome
OrphaCode: 2561
DisorderType: Malformation syndrome
Name: Oculodental syndrome, Rutherfurd type
OrphaCode: 2709
DisorderType: Malformation syndrome
Name: Oculodentodigital dysplasia
OrphaCode: 2710
DisorderType: Malformation syndrome
Name: Oculofaciocardiodental syndrome
OrphaCode: 2712
DisorderType: Malformation syndrome
Name: Oculocerebral hypopigmentation syndrome, Cross type
OrphaCode: 2719
DisorderType: Malformation syndrome
Name: Odonto-onycho-dermal dysplasia
OrphaCode: 2721
DisorderType: Disease
Name: Odonto-onycho dysplasia-alopecia syndrome
OrphaCode: 2722
DisorderType: Malformation syndrome
Name: Odontotrichomelic syndrome
OrphaCode: 2723
DisorderType: Malformation syndrome
Name: Odontomatosis-aortae esophagus stenosis syndrome
OrphaCode: 2724
DisorderType: Malformation syndrome
Name: Otodental syndrome
OrphaCode: 2791
DisorderType: Malformation syndrome
Name: Papillon-Lefèvre syndrome
OrphaCode: 678
DisorderType: Disease
Name: Pilodental dysplasia-refractive errors syndrome
OrphaCode: 2892
DisorderType: Malformation syndrome
Name: Brachyolmia-amelogenesis imperfecta syndrome
OrphaCode: 2899
DisorderType: Malformation syndrome
Name: Postaxial polydactyly-dental and vertebral anomalies syndrome
OrphaCode: 2916
DisorderType: Malformation syndrome
Name: Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
OrphaCode: 2972
DisorderType: Malformation syndrome
Name: Ramon syndrome
OrphaCode: 3019
DisorderType: Malformation syndrome
Name: Steatocystoma multiplex-natal teeth syndrome
OrphaCode: 3184
DisorderType: Malformation syndrome
Name: Deafness-enamel hypoplasia-nail defects syndrome
OrphaCode: 3220
DisorderType: Malformation syndrome
Name: Deafness-oligodontia syndrome
OrphaCode: 3230
DisorderType: Malformation syndrome
Name: Trichodental syndrome
OrphaCode: 3351
DisorderType: Malformation syndrome
Name: Tricho-dento-osseous syndrome
OrphaCode: 3352
DisorderType: Malformation syndrome
Name: Trichodermodysplasia-dental alterations syndrome
OrphaCode: 3353
DisorderType: Malformation syndrome
Name: Trichoodontoonychial dysplasia
OrphaCode: 3355
DisorderType: Malformation syndrome
Name: Anterior maxillary protrusion-strabismus-intellectual disability syndrome
OrphaCode: 562559
DisorderType: Malformation syndrome
Name: Zimmermann-Laband syndrome
OrphaCode: 3473
DisorderType: Malformation syndrome
Name: Schöpf-Schulz-Passarge syndrome
OrphaCode: 50944
DisorderType: Disease
Name: Odonto-tricho-ungual-digito-palmar syndrome
OrphaCode: 69082
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia with natal teeth, Turnpenny type
OrphaCode: 69083
DisorderType: Malformation syndrome
Name: Trichodysplasia-amelogenesis imperfecta syndrome
OrphaCode: 79129
DisorderType: Malformation syndrome
Name: Oculootodental syndrome
OrphaCode: 99806
DisorderType: Malformation syndrome
Name: Malformative syndrome with dentinogenesis imperfecta
OrphaCode: 180766
DisorderType: Category
Children: Name: Schimke immuno-osseous dysplasia
OrphaCode: 1830
DisorderType: Disease
Name: Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
OrphaCode: 71267
DisorderType: Malformation syndrome
Name: Odontochondrodysplasia
OrphaCode: 166272
DisorderType: Malformation syndrome
Name: Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
OrphaCode: 166277
DisorderType: Malformation syndrome
Name: Craniosynostosis-dental anomalies
OrphaCode: 284149
DisorderType: Malformation syndrome
Name: Oligodontia-cancer predisposition syndrome
OrphaCode: 300576
DisorderType: Disease
Name: Curly hair-acral keratoderma-caries syndrome
OrphaCode: 307766
DisorderType: Disease
Name: Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
OrphaCode: 307936
DisorderType: Disease
Name: Temtamy preaxial brachydactyly syndrome
OrphaCode: 363417
DisorderType: Malformation syndrome
Name: Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
OrphaCode: 314555
DisorderType: Malformation syndrome
Name: Wormian bones-micrognathia-abnormal dentition-progeroid syndrome
OrphaCode: 659873
DisorderType: Malformation syndrome
Name: Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome
OrphaCode: 664438
DisorderType: Malformation syndrome
Name: Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
OrphaCode: 589608
DisorderType: Disease
Name: Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome
OrphaCode: 598603
DisorderType: Malformation syndrome
Name: Rare head and neck malformation
OrphaCode: 155832
DisorderType: Category
Children: Name: Cleft lip with or without cleft palate
OrphaCode: 1991
DisorderType: Clinical group
Children: Name: Cleft lip and alveolus
OrphaCode: 141291
DisorderType: Morphological anomaly
Name: Isolated cleft lip
OrphaCode: 199302
DisorderType: Morphological anomaly
Name: Cleft lip/palate
OrphaCode: 199306
DisorderType: Morphological anomaly
Name: Cleft palate
OrphaCode: 2014
DisorderType: Clinical group
Children: Name: Bifid uvula
OrphaCode: 99771
DisorderType: Morphological anomaly
Name: Cleft velum
OrphaCode: 99772
DisorderType: Morphological anomaly
Name: Cleft hard palate
OrphaCode: 101023
DisorderType: Morphological anomaly
Name: Submucosal cleft palate
OrphaCode: 155878
DisorderType: Morphological anomaly
Name: Soft and hard cleft palate
OrphaCode: 664372
DisorderType: Morphological anomaly
Name: Congenital unilateral hypoplasia of depressor anguli oris
OrphaCode: 1166
DisorderType: Morphological anomaly
Name: Rare otorhinolaryngological malformation
OrphaCode: 96333
DisorderType: Category
Children: Name: Cysts and fistulae of the face and oral cavity
OrphaCode: 155835
DisorderType: Category
Children: Name: Familial thyroglossal duct cyst
OrphaCode: 93953
DisorderType: Morphological anomaly
Name: First branchial cleft anomaly
OrphaCode: 141013
DisorderType: Morphological anomaly
Name: Second branchial cleft anomaly
OrphaCode: 141022
DisorderType: Morphological anomaly
Name: Third branchial cleft anomaly
OrphaCode: 141030
DisorderType: Morphological anomaly
Name: Fourth branchial cleft anomaly
OrphaCode: 141037
DisorderType: Morphological anomaly
Name: Cervical dermoid cyst
OrphaCode: 141046
DisorderType: Morphological anomaly
Name: Facial dermoid cyst
OrphaCode: 141051
DisorderType: Morphological anomaly
Name: Commissural lip fistula
OrphaCode: 141061
DisorderType: Morphological anomaly
Name: Lower lip fistula
OrphaCode: 141064
DisorderType: Morphological anomaly
Name: Cervicofacial fibrochondroma
OrphaCode: 141067
DisorderType: Morphological anomaly
Name: Digestive duplication cyst of the tongue
OrphaCode: 141071
DisorderType: Morphological anomaly
Name: Nasal dermoid cyst
OrphaCode: 141103
DisorderType: Morphological anomaly
Name: Nasal dorsum fistula
OrphaCode: 141219
DisorderType: Morphological anomaly
Name: Pinnae fistula or cyst
OrphaCode: 155838
DisorderType: Morphological anomaly
Name: Pinnae and external auditory canal anomaly
OrphaCode: 156243
DisorderType: Category
Children: Name: Microtia
OrphaCode: 83463
DisorderType: Morphological anomaly
Name: Anotia
OrphaCode: 93976
DisorderType: Morphological anomaly
Name: External auditory canal aplasia/hypoplasia
OrphaCode: 141074
DisorderType: Morphological anomaly
Name: External auditory canal atresia-vertical talus-hypertelorism syndrome
OrphaCode: 3023
DisorderType: Malformation syndrome
Name: Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
OrphaCode: 397623
DisorderType: Malformation syndrome
Name: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
OrphaCode: 500188
DisorderType: Malformation syndrome
Name: Nose and cavum anomaly
OrphaCode: 156246
DisorderType: Category
Children: Name: Lymphedema-posterior choanal atresia syndrome
OrphaCode: 99141
DisorderType: Malformation syndrome
Name: Arrhinia-choanal atresia-microphthalmia syndrome
OrphaCode: 1135
DisorderType: Malformation syndrome
Name: Burn-McKeown syndrome
OrphaCode: 1200
DisorderType: Malformation syndrome
Name: Blepharonasofacial malformation syndrome
OrphaCode: 1252
DisorderType: Malformation syndrome
Name: Lacrimoauriculodentodigital syndrome
OrphaCode: 2363
DisorderType: Malformation syndrome
Name: Bifid nose
OrphaCode: 2695
DisorderType: Malformation syndrome
Name: Radial ray hypoplasia-choanal atresia syndrome
OrphaCode: 3026
DisorderType: Malformation syndrome
Name: Isolated arrhinia
OrphaCode: 1134
DisorderType: Malformation syndrome
Name: Intractable diarrhea-choanal atresia-eye anomalies syndrome
OrphaCode: 137622
DisorderType: Malformation syndrome
Name: Choanal atresia
OrphaCode: 137914
DisorderType: Morphological anomaly
Children: Name: Choanal atresia, unilateral
OrphaCode: 137917
DisorderType: Clinical subtype
Name: Choanal atresia, bilateral
OrphaCode: 137920
DisorderType: Clinical subtype
Name: Nasolacrimal duct cyst
OrphaCode: 141083
DisorderType: Morphological anomaly
Name: Polyrrhinia
OrphaCode: 141091
DisorderType: Malformation syndrome
Name: Supernumerary nostril
OrphaCode: 141096
DisorderType: Malformation syndrome
Name: Proboscis lateralis
OrphaCode: 141099
DisorderType: Malformation syndrome
Name: Nasal glial heterotopia
OrphaCode: 141112
DisorderType: Disease
Name: Nasal encephalocele
OrphaCode: 141118
DisorderType: Clinical subtype
Name: Craniorhiny
OrphaCode: 157832
DisorderType: Malformation syndrome
Name: Isolated congenital nasal pyriform aperture stenosis
OrphaCode: 162516
DisorderType: Malformation syndrome
Name: BNAR syndrome
OrphaCode: 217266
DisorderType: Malformation syndrome
Name: Supratip dysplasia
OrphaCode: 466695
DisorderType: Morphological anomaly
Name: Familial congenital nasolacrimal duct obstruction
OrphaCode: 451612
DisorderType: Morphological anomaly
Name: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
OrphaCode: 589856
DisorderType: Malformation syndrome
Name: Larynx anomaly
OrphaCode: 156249
DisorderType: Category
Children: Name: Congenital laryngomalacia
OrphaCode: 2373
DisorderType: Malformation syndrome
Name: Isolated congenital laryngeal web
OrphaCode: 2374
DisorderType: Malformation syndrome
Name: Larynx atresia
OrphaCode: 1202
DisorderType: Malformation syndrome
Name: Laryngocele
OrphaCode: 2372
DisorderType: Malformation syndrome
Name: Laryngotracheoesophageal cleft
OrphaCode: 2004
DisorderType: Morphological anomaly
Children: Name: Laryngotracheoesophageal cleft type 1
OrphaCode: 93938
DisorderType: Clinical subtype
Name: Laryngotracheoesophageal cleft type 2
OrphaCode: 93939
DisorderType: Clinical subtype
Name: Laryngotracheoesophageal cleft type 3
OrphaCode: 93940
DisorderType: Clinical subtype
Name: Laryngotracheoesophageal cleft type 4
OrphaCode: 93941
DisorderType: Clinical subtype
Name: Laryngotracheoesophageal cleft type 0
OrphaCode: 280205
DisorderType: Clinical subtype
Name: Congenital velopharyngeal incompetence
OrphaCode: 2291
DisorderType: Morphological anomaly
Name: Laryngeal abductor paralysis
OrphaCode: 2808
DisorderType: Malformation syndrome
Name: Primary laryngeal lymphangioma
OrphaCode: 137926
DisorderType: Malformation syndrome
Name: Congenital laryngeal palsy
OrphaCode: 137932
DisorderType: Malformation syndrome
Name: Airway infantile hemangioma
OrphaCode: 137935
DisorderType: Disease
Name: Congenital subglottic stenosis
OrphaCode: 141121
DisorderType: Malformation syndrome
Name: Congenital laryngeal cyst
OrphaCode: 141124
DisorderType: Morphological anomaly
Name: Tracheal anomaly
OrphaCode: 156252
DisorderType: Category
Children: Name: Tracheal agenesis
OrphaCode: 3346
DisorderType: Morphological anomaly
Name: Congenital tracheomalacia
OrphaCode: 95430
DisorderType: Morphological anomaly
Name: Congenital tracheal stenosis
OrphaCode: 141127
DisorderType: Morphological anomaly
Name: Middle and/or inner ear anomaly
OrphaCode: 164004
DisorderType: Category
Children: Name: Cochlear nerve deficiency
OrphaCode: 502318
DisorderType: Morphological anomaly
Name: Cochleovestibular malformation
OrphaCode: 502305
DisorderType: Morphological anomaly
Name: Isolated congenital auditory ossicle malformation
OrphaCode: 162526
DisorderType: Morphological anomaly
Name: Otomandibular dysplasia
OrphaCode: 155896
DisorderType: Category
Children: Name: Auriculocondylar syndrome
OrphaCode: 137888
DisorderType: Malformation syndrome
Name: Oculo-auriculo-vertebral spectrum
OrphaCode: 141132
DisorderType: Malformation syndrome
Name: Mandibulofacial dysostosis
OrphaCode: 155899
DisorderType: Clinical group
Children: Name: Treacher-Collins syndrome
OrphaCode: 861
DisorderType: Malformation syndrome
Name: Acrodysostosis
OrphaCode: 950
DisorderType: Malformation syndrome
Name: Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
OrphaCode: 357158
DisorderType: Disease
Name: Mandibulofacial dysostosis with alopecia
OrphaCode: 443995
DisorderType: Malformation syndrome
Name: Otomandibular dysplasia associated with monogenic syndromes
OrphaCode: 156202
DisorderType: Category
Children: Name: Lambert syndrome
OrphaCode: 1296
DisorderType: Malformation syndrome
Name: BOR syndrome
OrphaCode: 107
DisorderType: Malformation syndrome
Name: Facial cleft
OrphaCode: 141229
DisorderType: Category
Children: Name: Median facial cleft
OrphaCode: 141234
DisorderType: Clinical group
Children: Name: Median cleft lip/mandible
OrphaCode: 2006
DisorderType: Morphological anomaly
Name: Frontofacionasal dysplasia
OrphaCode: 1791
DisorderType: Malformation syndrome
Name: Bifid nose
OrphaCode: 2695
DisorderType: Malformation syndrome
Name: Median cleft of the upper lip and maxilla
OrphaCode: 141239
DisorderType: Morphological anomaly
Name: Midline cervical cleft
OrphaCode: 141288
DisorderType: Morphological anomaly
Name: Frontorhiny
OrphaCode: 391474
DisorderType: Malformation syndrome
Name: Familial median cleft of the upper and lower lips
OrphaCode: 401942
DisorderType: Malformation syndrome
Name: Oblique facial cleft
OrphaCode: 141253
DisorderType: Clinical group
Children: Name: Tessier number 4 facial cleft
OrphaCode: 141258
DisorderType: Morphological anomaly
Name: Tessier number 5 facial cleft
OrphaCode: 141261
DisorderType: Morphological anomaly
Name: Tessier number 6 facial cleft
OrphaCode: 141265
DisorderType: Morphological anomaly
Name: Coloboma of superior eyelid
OrphaCode: 155884
DisorderType: Morphological anomaly
Name: Coloboma of inferior eyelid
OrphaCode: 155889
DisorderType: Morphological anomaly
Name: Lateral facial cleft
OrphaCode: 141269
DisorderType: Clinical group
Children: Name: Tessier number 7 facial cleft
OrphaCode: 141276
DisorderType: Morphological anomaly
Name: Paramedian facial cleft
OrphaCode: 155867
DisorderType: Clinical group
Children: Name: Paramedian nasal cleft
OrphaCode: 141242
DisorderType: Morphological anomaly
Name: Macroglossia
OrphaCode: 156207
DisorderType: Category
Children: Name: Beckwith-Wiedemann syndrome
OrphaCode: 116
DisorderType: Malformation syndrome
Children: Name: Beckwith-Wiedemann syndrome due to 11p15 microduplication
OrphaCode: 96076
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
OrphaCode: 96193
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
OrphaCode: 231117
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to CDKN1C mutation
OrphaCode: 231120
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion
OrphaCode: 231127
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
OrphaCode: 231130
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to NSD1 mutation
OrphaCode: 238613
DisorderType: Etiological subtype
Name: Congenital macroglossia
OrphaCode: 2430
DisorderType: Malformation syndrome
Name: Simpson-Golabi-Behmel syndrome
OrphaCode: 373
DisorderType: Malformation syndrome
Name: Isolated hemihyperplasia
OrphaCode: 2128
DisorderType: Morphological anomaly
Name: Hemifacial hyperplasia
OrphaCode: 141145
DisorderType: Malformation syndrome
Name: Hemifacial myohyperplasia
OrphaCode: 141148
DisorderType: Malformation syndrome
Name: Hypoglossia/aglossia
OrphaCode: 156212
DisorderType: Category
Children: Name: Isolated congenital hypoglossia/aglossia
OrphaCode: 141152
DisorderType: Morphological anomaly
Children: Name: Isolated congenital hypoglossia
OrphaCode: 563954
DisorderType: Clinical subtype
Name: Isolated congenital aglossia
OrphaCode: 563951
DisorderType: Clinical subtype
Name: Oromandibular-limb anomalies syndrome
OrphaCode: 156215
DisorderType: Category
Children: Name: Oromandibular-limb hypogenesis syndrome
OrphaCode: 2749
DisorderType: Clinical group
Children: Name: Charlie M syndrome
OrphaCode: 1406
DisorderType: Malformation syndrome
Name: Hypoglossia-hypodactyly syndrome
OrphaCode: 989
DisorderType: Malformation syndrome
Name: Glossopalatine ankylosis
OrphaCode: 141163
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome
OrphaCode: 140997
DisorderType: Clinical group
Children: Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 2
OrphaCode: 2751
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 4
OrphaCode: 2753
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 8
OrphaCode: 2755
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 5
OrphaCode: 2919
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 11
OrphaCode: 141000
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 9
OrphaCode: 141007
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 14
OrphaCode: 434179
DisorderType: Malformation syndrome
Name: Oral-facial-digital syndrome with short stature and brachymesophalangy
OrphaCode: 508501
DisorderType: Malformation syndrome
Name: Paralytic facial malformation
OrphaCode: 156224
DisorderType: Category
Children: Name: Moebius syndrome
OrphaCode: 570
DisorderType: Disease
Name: Isolated hereditary congenital facial paralysis
OrphaCode: 306527
DisorderType: Morphological anomaly
Name: Congenital hereditary facial paralysis-variable hearing loss syndrome
OrphaCode: 306530
DisorderType: Morphological anomaly
Name: Syndrome or malformation associated with head and neck malformations
OrphaCode: 156237
DisorderType: Category
Children: Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: BOR syndrome
OrphaCode: 107
DisorderType: Malformation syndrome
Name: Beckwith-Wiedemann syndrome
OrphaCode: 116
DisorderType: Malformation syndrome
Children: Name: Beckwith-Wiedemann syndrome due to 11p15 microduplication
OrphaCode: 96076
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
OrphaCode: 96193
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
OrphaCode: 231117
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to CDKN1C mutation
OrphaCode: 231120
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion
OrphaCode: 231127
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
OrphaCode: 231130
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to NSD1 mutation
OrphaCode: 238613
DisorderType: Etiological subtype
Name: Monosomy 18q
OrphaCode: 1600
DisorderType: Malformation syndrome
Name: Postaxial acrofacial dysostosis
OrphaCode: 246
DisorderType: Malformation syndrome
Name: Isolated Pierre Robin syndrome
OrphaCode: 718
DisorderType: Malformation syndrome
Name: Proteus syndrome
OrphaCode: 744
DisorderType: Malformation syndrome
Name: Sturge-Weber syndrome
OrphaCode: 3205
DisorderType: Malformation syndrome
Name: Simpson-Golabi-Behmel syndrome
OrphaCode: 373
DisorderType: Malformation syndrome
Name: Van der Woude syndrome
OrphaCode: 888
DisorderType: Malformation syndrome
Name: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
OrphaCode: 1071
DisorderType: Malformation syndrome
Children: Name: Ankyloblepharon filiforme adnatum-cleft palate syndrome
OrphaCode: 1072
DisorderType: Clinical subtype
Name: Ankyloblepharon filiforme adnatum-imperforate anus syndrome
OrphaCode: 1074
DisorderType: Clinical subtype
Name: Arthrogryposis multiplex congenita-whistling face syndrome
OrphaCode: 1150
DisorderType: Malformation syndrome
Name: Maxillonasal dysplasia
OrphaCode: 1248
DisorderType: Malformation syndrome
Name: CHAND syndrome
OrphaCode: 1401
DisorderType: Malformation syndrome
Name: EEC syndrome
OrphaCode: 1896
DisorderType: Malformation syndrome
Name: Multiple pterygium-malignant hyperthermia syndrome
OrphaCode: 2215
DisorderType: Malformation syndrome
Name: Marden-Walker syndrome
OrphaCode: 2461
DisorderType: Malformation syndrome
Name: Adducted thumbs-arthrogryposis syndrome, Christian type
OrphaCode: 2952
DisorderType: Malformation syndrome
Name: Van den Ende-Gupta syndrome
OrphaCode: 2460
DisorderType: Malformation syndrome
Name: Otopalatodigital syndrome type 1
OrphaCode: 90650
DisorderType: Malformation syndrome
Name: Isolated ankyloblepharon filiforme adnatum
OrphaCode: 91397
DisorderType: Morphological anomaly
Name: Rare disease with Pierre Robin syndrome
OrphaCode: 138044
DisorderType: Category
Children: Name: TARP syndrome
OrphaCode: 2886
DisorderType: Malformation syndrome
Name: Pierre Robin syndrome associated with collagen disease
OrphaCode: 138041
DisorderType: Category
Children: Name: Stickler syndrome
OrphaCode: 828
DisorderType: Disease
Children: Name: Stickler syndrome type 1
OrphaCode: 90653
DisorderType: Clinical subtype
Name: Stickler syndrome type 2
OrphaCode: 90654
DisorderType: Clinical subtype
Name: Autosomal recessive Stickler syndrome
OrphaCode: 250984
DisorderType: Clinical subtype
Name: Kniest dysplasia
OrphaCode: 485
DisorderType: Disease
Name: Autosomal dominant otospondylomegaepiphyseal dysplasia
OrphaCode: 166100
DisorderType: Malformation syndrome
Name: Pierre Robin syndrome associated with a chromosomal anomaly
OrphaCode: 138047
DisorderType: Category
Children: Name: 22q11.2 deletion syndrome
OrphaCode: 567
DisorderType: Malformation syndrome
Name: Contractures-developmental delay-Pierre Robin syndrome
OrphaCode: 436003
DisorderType: Malformation syndrome
Name: 21q22.11q22.12 microdeletion syndrome
OrphaCode: 261323
DisorderType: Malformation syndrome
Name: Pierre Robin syndrome associated with branchial archs anomalies
OrphaCode: 138050
DisorderType: Category
Children: Name: Treacher-Collins syndrome
OrphaCode: 861
DisorderType: Malformation syndrome
Name: Nager syndrome
OrphaCode: 245
DisorderType: Malformation syndrome
Name: Pierre Robin syndrome associated with bone disease
OrphaCode: 138055
DisorderType: Category
Children: Name: Apert syndrome
OrphaCode: 87
DisorderType: Malformation syndrome
Name: Atelosteogenesis type I
OrphaCode: 1190
DisorderType: Malformation syndrome
Name: Atelosteogenesis type II
OrphaCode: 56304
DisorderType: Malformation syndrome
Name: Atelosteogenesis type III
OrphaCode: 56305
DisorderType: Malformation syndrome
Name: Cornelia de Lange syndrome
OrphaCode: 199
DisorderType: Malformation syndrome
Name: Teratogenic Pierre Robin syndrome
OrphaCode: 138059
DisorderType: Category
Children: Name: Toluene embryopathy
OrphaCode: 1920
DisorderType: Malformation syndrome
Name: Methimazole embryofetopathy
OrphaCode: 1923
DisorderType: Malformation syndrome
Name: Diabetic embryopathy
OrphaCode: 1926
DisorderType: Malformation syndrome
Name: Maternal phenylketonuria
OrphaCode: 2209
DisorderType: Malformation syndrome
Name: Maternal hyperthermia-induced birth defects
OrphaCode: 2216
DisorderType: Malformation syndrome
Name: Isotretinoin syndrome
OrphaCode: 2305
DisorderType: Malformation syndrome
Name: Fetal alcohol syndrome
OrphaCode: 1915
DisorderType: Malformation syndrome
Name: Fetal parvovirus syndrome
OrphaCode: 295
DisorderType: Malformation syndrome
Name: Fetal valproate spectrum disorder
OrphaCode: 1906
DisorderType: Malformation syndrome
Name: Aminopterin/methotrexate embryofetopathy
OrphaCode: 1908
DisorderType: Malformation syndrome
Name: Indomethacin embryofetopathy
OrphaCode: 1909
DisorderType: Malformation syndrome
Name: Fetal iodine syndrome
OrphaCode: 1910
DisorderType: Malformation syndrome
Name: Cocaine embryofetopathy
OrphaCode: 1911
DisorderType: Malformation syndrome
Name: Fetal minoxidil syndrome
OrphaCode: 1918
DisorderType: Malformation syndrome
Name: Fetal hydantoin syndrome
OrphaCode: 1912
DisorderType: Malformation syndrome
Name: Fetal trimethadione syndrome
OrphaCode: 1913
DisorderType: Malformation syndrome
Name: Vitamin K antagonist embryofetopathy
OrphaCode: 1914
DisorderType: Malformation syndrome
Name: Fetal methylmercury syndrome
OrphaCode: 1917
DisorderType: Malformation syndrome
Name: Phenobarbital embryopathy
OrphaCode: 1919
DisorderType: Malformation syndrome
Name: Propylthiouracil embryofetopathy
OrphaCode: 485358
DisorderType: Malformation syndrome
Name: Intellectual disability-brachydactyly-Pierre Robin syndrome
OrphaCode: 364577
DisorderType: Malformation syndrome
Name: Orofacial clefting syndrome
OrphaCode: 139039
DisorderType: Category
Children: Name: Meckel syndrome
OrphaCode: 564
DisorderType: Malformation syndrome
Name: Diamond-Blackfan anemia
OrphaCode: 124
DisorderType: Disease
Name: Roberts syndrome
OrphaCode: 3103
DisorderType: Malformation syndrome
Name: Uveal coloboma-cleft lip and palate-intellectual disability
OrphaCode: 1473
DisorderType: Malformation syndrome
Name: Carey-Fineman-Ziter syndrome
OrphaCode: 1358
DisorderType: Malformation syndrome
Name: Aase-Smith syndrome
OrphaCode: 916
DisorderType: Malformation syndrome
Name: Ablepharon macrostomia syndrome
OrphaCode: 920
DisorderType: Malformation syndrome
Name: Abruzzo-Erickson syndrome
OrphaCode: 921
DisorderType: Malformation syndrome
Name: Bamforth-Lazarus syndrome
OrphaCode: 1226
DisorderType: Malformation syndrome
Name: Bencze syndrome
OrphaCode: 1241
DisorderType: Malformation syndrome
Name: Branchio-oculo-facial syndrome
OrphaCode: 1297
DisorderType: Malformation syndrome
Name: Catel-Manzke syndrome
OrphaCode: 1388
DisorderType: Malformation syndrome
Name: Contractures-ectodermal dysplasia-cleft lip/palate syndrome
OrphaCode: 1484
DisorderType: Malformation syndrome
Name: Crane-Heise syndrome
OrphaCode: 1512
DisorderType: Malformation syndrome
Name: Femoral-facial syndrome
OrphaCode: 1988
DisorderType: Malformation syndrome
Name: Pai syndrome
OrphaCode: 1993
DisorderType: Malformation syndrome
Name: Cleft lip-retinopathy syndrome
OrphaCode: 1995
DisorderType: Malformation syndrome
Name: Blepharo-cheilo-odontic syndrome
OrphaCode: 1997
DisorderType: Malformation syndrome
Name: Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
OrphaCode: 2001
DisorderType: Malformation syndrome
Name: Cleft lip/palate-deafness-sacral lipoma syndrome
OrphaCode: 2003
DisorderType: Malformation syndrome
Name: Acrocardiofacial syndrome
OrphaCode: 2008
DisorderType: Malformation syndrome
Name: Cleft palate-large ears-small head syndrome
OrphaCode: 2013
DisorderType: Malformation syndrome
Name: Cleft palate-lateral synechia syndrome
OrphaCode: 2016
DisorderType: Malformation syndrome
Name: Genitopalatocardiac syndrome
OrphaCode: 2075
DisorderType: Malformation syndrome
Name: Gordon syndrome
OrphaCode: 376
DisorderType: Malformation syndrome
Name: Hartsfield syndrome
OrphaCode: 2117
DisorderType: Malformation syndrome
Name: Holzgreve syndrome
OrphaCode: 2167
DisorderType: Malformation syndrome
Name: Hydrolethalus
OrphaCode: 2189
DisorderType: Malformation syndrome
Name: Hypertelorism-microtia-facial clefting syndrome
OrphaCode: 2213
DisorderType: Malformation syndrome
Name: Juberg-Hayward syndrome
OrphaCode: 2319
DisorderType: Malformation syndrome
Name: Kapur-Toriello syndrome
OrphaCode: 2328
DisorderType: Malformation syndrome
Name: Macrosomia-microphthalmia-cleft palate syndrome
OrphaCode: 2432
DisorderType: Malformation syndrome
Name: Dysraphism-cleft lip/palate-limb reduction defects syndrome
OrphaCode: 2476
DisorderType: Malformation syndrome
Name: Microbrachycephaly-ptosis-cleft lip syndrome
OrphaCode: 2511
DisorderType: Malformation syndrome
Name: Microcephaly-cleft palate-abnormal retinal pigmentation syndrome
OrphaCode: 2521
DisorderType: Malformation syndrome
Name: Mesomelic dwarfism-cleft palate-camptodactyly syndrome
OrphaCode: 2631
DisorderType: Malformation syndrome
Name: Oculo-palato-cerebral syndrome
OrphaCode: 2714
DisorderType: Malformation syndrome
Name: Odontotrichomelic syndrome
OrphaCode: 2723
DisorderType: Malformation syndrome
Name: Lethal omphalocele-cleft palate syndrome
OrphaCode: 2736
DisorderType: Malformation syndrome
Name: W syndrome
OrphaCode: 2804
DisorderType: Malformation syndrome
Name: PARC syndrome
OrphaCode: 2825
DisorderType: Malformation syndrome
Name: Fuhrmann syndrome
OrphaCode: 2854
DisorderType: Malformation syndrome
Name: Pierre Robin syndrome-faciodigital anomaly syndrome
OrphaCode: 2888
DisorderType: Malformation syndrome
Name: RAPADILINO syndrome
OrphaCode: 3021
DisorderType: Malformation syndrome
Name: Richieri Costa-Pereira syndrome
OrphaCode: 3102
DisorderType: Malformation syndrome
Name: Robin sequence-oligodactyly syndrome
OrphaCode: 3104
DisorderType: Malformation syndrome
Name: Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
OrphaCode: 3201
DisorderType: Malformation syndrome
Name: Cleft lip/palate-ectodermal dysplasia syndrome
OrphaCode: 3253
DisorderType: Malformation syndrome
Name: Thomas syndrome
OrphaCode: 3316
DisorderType: Malformation syndrome
Name: Tibial aplasia-ectrodactyly syndrome
OrphaCode: 3329
DisorderType: Malformation syndrome
Name: Toriello-Carey syndrome
OrphaCode: 3338
DisorderType: Malformation syndrome
Name: Velo-facial-skeletal syndrome
OrphaCode: 3424
DisorderType: Malformation syndrome
Name: Verloove Vanhorick-Brubakk syndrome
OrphaCode: 3429
DisorderType: Malformation syndrome
Name: Weaver-Williams syndrome
OrphaCode: 3448
DisorderType: Malformation syndrome
Name: Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
OrphaCode: 477993
DisorderType: Malformation syndrome
Name: Hardikar syndrome
OrphaCode: 1415
DisorderType: Malformation syndrome
Name: Cleft palate-short stature-vertebral anomalies syndrome
OrphaCode: 2015
DisorderType: Malformation syndrome
Name: Dysmorphism-cleft palate-loose skin syndrome
OrphaCode: 1779
DisorderType: Malformation syndrome
Name: Syngnathia-cleft palate syndrome
OrphaCode: 3263
DisorderType: Malformation syndrome
Name: Larsen syndrome
OrphaCode: 503
DisorderType: Malformation syndrome
Name: Goldberg-Shprintzen megacolon syndrome
OrphaCode: 66629
DisorderType: Malformation syndrome
Name: Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
OrphaCode: 77300
DisorderType: Malformation syndrome
Name: Mandibulofacial dysostosis-microcephaly syndrome
OrphaCode: 79113
DisorderType: Malformation syndrome
Name: Macular coloboma-cleft palate-hallux valgus syndrome
OrphaCode: 91494
DisorderType: Malformation syndrome
Name: Bilateral microtia-deafness-cleft palate syndrome
OrphaCode: 140963
DisorderType: Malformation syndrome
Name: Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
OrphaCode: 163649
DisorderType: Disease
Name: Autosomal dominant otospondylomegaepiphyseal dysplasia
OrphaCode: 166100
DisorderType: Malformation syndrome
Name: Native American myopathy
OrphaCode: 168572
DisorderType: Malformation syndrome
Name: Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
OrphaCode: 306542
DisorderType: Malformation syndrome
Name: X-linked cleft palate and ankyloglossia
OrphaCode: 324601
DisorderType: Malformation syndrome
Name: Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
OrphaCode: 508476
DisorderType: Malformation syndrome
Name: Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome
OrphaCode: 660021
DisorderType: Malformation syndrome
Name: Oculomaxillofacial dysostosis
OrphaCode: 1794
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome
OrphaCode: 140997
DisorderType: Clinical group
Children: Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 2
OrphaCode: 2751
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 4
OrphaCode: 2753
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 8
OrphaCode: 2755
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 5
OrphaCode: 2919
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 11
OrphaCode: 141000
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 9
OrphaCode: 141007
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 14
OrphaCode: 434179
DisorderType: Malformation syndrome
Name: Oral-facial-digital syndrome with short stature and brachymesophalangy
OrphaCode: 508501
DisorderType: Malformation syndrome
Name: Isolated congenital syngnathia
OrphaCode: 141214
DisorderType: Malformation syndrome
Name: Hemihyperplasia-multiple lipomatosis syndrome
OrphaCode: 276280
DisorderType: Malformation syndrome
Name: Popliteal pterygium syndrome
OrphaCode: 294963
DisorderType: Clinical group
Children: Name: Bartsocas-Papas syndrome
OrphaCode: 1234
DisorderType: Malformation syndrome
Name: Autosomal dominant popliteal pterygium syndrome
OrphaCode: 1300
DisorderType: Malformation syndrome
Name: Otopalatodigital syndrome type 2
OrphaCode: 90652
DisorderType: Malformation syndrome
Name: SATB2-associated syndrome
OrphaCode: 576278
DisorderType: Malformation syndrome
Children: Name: SATB2-associated syndrome due to a chromosomal rearrangement
OrphaCode: 251028
DisorderType: Etiological subtype
Name: SATB2-associated syndrome due to a pathogenic variant
OrphaCode: 576283
DisorderType: Etiological subtype
Name: Rare chromosomal anomaly
OrphaCode: 68335
DisorderType: Category
Children: Name: Mosaic variegated aneuploidy syndrome
OrphaCode: 1052
DisorderType: Malformation syndrome
Name: Polyploidy
OrphaCode: 96321
DisorderType: Category
Children: Name: Tetraploidy
OrphaCode: 3305
DisorderType: Malformation syndrome
Name: Triploidy
OrphaCode: 3376
DisorderType: Malformation syndrome
Name: Autosomal anomaly
OrphaCode: 98127
DisorderType: Category
Children: Name: Ring chromosome
OrphaCode: 363203
DisorderType: Category
Children: Name: Ring chromosome 3 syndrome
OrphaCode: 96172
DisorderType: Malformation syndrome
Name: Ring chromosome 9 syndrome
OrphaCode: 96173
DisorderType: Malformation syndrome
Name: Ring chromosome 11 syndrome
OrphaCode: 96175
DisorderType: Malformation syndrome
Name: Ring chromosome 13 syndrome
OrphaCode: 96176
DisorderType: Malformation syndrome
Name: Ring chromosome 15 syndrome
OrphaCode: 96177
DisorderType: Malformation syndrome
Name: Ring chromosome 16 syndrome
OrphaCode: 96178
DisorderType: Malformation syndrome
Name: Ring chromosome 5 syndrome
OrphaCode: 251043
DisorderType: Malformation syndrome
Name: Ring chromosome 18 syndrome
OrphaCode: 1442
DisorderType: Malformation syndrome
Name: Ring chromosome 22 syndrome
OrphaCode: 1446
DisorderType: Malformation syndrome
Name: Ring chromosome 1 syndrome
OrphaCode: 1437
DisorderType: Malformation syndrome
Name: Ring chromosome 10 syndrome
OrphaCode: 1438
DisorderType: Malformation syndrome
Name: Ring chromosome 12 syndrome
OrphaCode: 1439
DisorderType: Malformation syndrome
Name: Ring chromosome 20 syndrome
OrphaCode: 1444
DisorderType: Malformation syndrome
Name: Ring chromosome 4 syndrome
OrphaCode: 1447
DisorderType: Malformation syndrome
Name: Ring chromosome 6 syndrome
OrphaCode: 1448
DisorderType: Malformation syndrome
Name: Ring chromosome 8 syndrome
OrphaCode: 1450
DisorderType: Malformation syndrome
Name: Ring chromosome 21 syndrome
OrphaCode: 1445
DisorderType: Malformation syndrome
Name: Ring chromosome 14 syndrome
OrphaCode: 1440
DisorderType: Malformation syndrome
Name: Ring chromosome 19 syndrome
OrphaCode: 1443
DisorderType: Malformation syndrome
Name: Ring chromosome 7 syndrome
OrphaCode: 1449
DisorderType: Malformation syndrome
Name: Ring chromosome 17 syndrome
OrphaCode: 1441
DisorderType: Malformation syndrome
Name: Ring chromosome 2 syndrome
OrphaCode: 96171
DisorderType: Malformation syndrome
Name: Autosomal trisomy
OrphaCode: 98130
DisorderType: Category
Children: Name: Total autosomal trisomy
OrphaCode: 98131
DisorderType: Category
Children: Name: Trisomy 13
OrphaCode: 3378
DisorderType: Malformation syndrome
Name: Trisomy 18
OrphaCode: 3380
DisorderType: Malformation syndrome
Name: Mosaic trisomy 14
OrphaCode: 1703
DisorderType: Malformation syndrome
Name: Mosaic trisomy 1
OrphaCode: 1692
DisorderType: Malformation syndrome
Name: Mosaic trisomy 12
OrphaCode: 1698
DisorderType: Malformation syndrome
Name: Mosaic trisomy 15
OrphaCode: 1706
DisorderType: Malformation syndrome
Name: Mosaic trisomy 16
OrphaCode: 1708
DisorderType: Malformation syndrome
Name: Mosaic trisomy 17
OrphaCode: 1711
DisorderType: Malformation syndrome
Name: Mosaic trisomy 2
OrphaCode: 1723
DisorderType: Malformation syndrome
Name: Mosaic trisomy 20
OrphaCode: 1724
DisorderType: Malformation syndrome
Name: Mosaic trisomy 7
OrphaCode: 1747
DisorderType: Malformation syndrome
Name: Mosaic trisomy 4
OrphaCode: 96059
DisorderType: Malformation syndrome
Name: Mosaic trisomy 5
OrphaCode: 96060
DisorderType: Malformation syndrome
Name: Mosaic trisomy 8
OrphaCode: 96061
DisorderType: Malformation syndrome
Name: Mosaic trisomy 10
OrphaCode: 96063
DisorderType: Malformation syndrome
Name: Mosaic trisomy 22
OrphaCode: 96068
DisorderType: Malformation syndrome
Name: Mosaic trisomy 9
OrphaCode: 99776
DisorderType: Malformation syndrome
Name: Mosaic trisomy 3
OrphaCode: 100071
DisorderType: Malformation syndrome
Name: Down syndrome
OrphaCode: 870
DisorderType: Malformation syndrome
Name: Partial autosomal duplication/triplication
OrphaCode: 98132
DisorderType: Category
Children: Name: Tetrasomy 21
OrphaCode: 96055
DisorderType: Malformation syndrome
Name: Partial duplication of chromosome 1
OrphaCode: 262191
DisorderType: Category
Children: Name: Partial duplication of the long arm of chromosome 1
OrphaCode: 262833
DisorderType: Category
Children: Name: 1q21.1 microduplication syndrome
OrphaCode: 250994
DisorderType: Malformation syndrome
Name: Trisomy 1q
OrphaCode: 261344
DisorderType: Malformation syndrome
Name: Partial duplication of the short arm of chromosome 1
OrphaCode: 264431
DisorderType: Category
Children: Name: 1p36.33 duplication syndrome
OrphaCode: 656279
DisorderType: Disease
Name: Distal duplication 1p36
OrphaCode: 96069
DisorderType: Malformation syndrome
Name: Partial duplication of chromosome 2
OrphaCode: 262196
DisorderType: Category
Children: Name: Partial duplication of the short arm of chromosome 2
OrphaCode: 262698
DisorderType: Category
Children: Name: Distal duplication 2p
OrphaCode: 96070
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome 2
OrphaCode: 262842
DisorderType: Category
Children: Name: Distal duplication 2q
OrphaCode: 96094
DisorderType: Malformation syndrome
Name: Syndactyly-nystagmus syndrome due to 2q31.1 microduplication
OrphaCode: 294026
DisorderType: Malformation syndrome
Name: 2q23.1 microduplication syndrome
OrphaCode: 313947
DisorderType: Malformation syndrome
Name: Partial duplication of chromosome 3
OrphaCode: 262201
DisorderType: Category
Children: Name: Partial duplication of the short arm of chromosome 3
OrphaCode: 262707
DisorderType: Category
Children: Name: Distal duplication 3p
OrphaCode: 96071
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome 3
OrphaCode: 262851
DisorderType: Category
Children: Name: 3q26 microduplication syndrome
OrphaCode: 96095
DisorderType: Malformation syndrome
Name: 3q29 microduplication syndrome
OrphaCode: 251038
DisorderType: Malformation syndrome
Name: Partial duplication of chromosome 4
OrphaCode: 262206
DisorderType: Category
Children: Name: Partial duplication of the short arm of chromosome 4
OrphaCode: 262716
DisorderType: Category
Children: Name: Trisomy 4p
OrphaCode: 1738
DisorderType: Malformation syndrome
Name: 4p16.3 microduplication syndrome
OrphaCode: 96072
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome 4
OrphaCode: 262860
DisorderType: Category
Children: Name: Distal duplication 4q
OrphaCode: 96096
DisorderType: Malformation syndrome
Name: Partial duplication/triplication of chromosome 5
OrphaCode: 262211
DisorderType: Category
Children: Name: Partial duplication/triplication of the short arm of chromosome 5
OrphaCode: 262725
DisorderType: Category
Children: Name: Trisomy 5p
OrphaCode: 1742
DisorderType: Malformation syndrome
Name: Tetrasomy 5p
OrphaCode: 3309
DisorderType: Malformation syndrome
Name: 5p13 microduplication syndrome
OrphaCode: 329802
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome 5
OrphaCode: 262869
DisorderType: Category
Children: Name: Distal duplication 5q
OrphaCode: 96097
DisorderType: Malformation syndrome
Name: Adult-onset autosomal dominant leukodystrophy
OrphaCode: 99027
DisorderType: Disease
Name: 5q35 microduplication syndrome
OrphaCode: 228415
DisorderType: Malformation syndrome
Name: Partial duplication of chromosome 6
OrphaCode: 262628
DisorderType: Category
Children: Name: Partial duplication of the short arm of chromosome 6
OrphaCode: 262740
DisorderType: Category
Children: Name: Distal duplication 6p
OrphaCode: 1745
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome 6
OrphaCode: 262878
DisorderType: Category
Children: Name: Distal duplication 6q
OrphaCode: 96098
DisorderType: Malformation syndrome
Name: Partial duplication of chromosome 7
OrphaCode: 262633
DisorderType: Category
Children: Name: Partial duplication of the short arm of chromosome 7
OrphaCode: 262749
DisorderType: Category
Children: Name: Distal duplication 7p
OrphaCode: 96074
DisorderType: Malformation syndrome
Name: Silver-Russell syndrome due to 7p11.2p13 microduplication
OrphaCode: 231137
DisorderType: Etiological subtype
Name: 7p22.1 microduplication syndrome
OrphaCode: 314034
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome 7
OrphaCode: 262887
DisorderType: Category
Children: Name: 7q11.23 microduplication syndrome
OrphaCode: 96121
DisorderType: Malformation syndrome
Name: Distal 7q11.23 microduplication syndrome
OrphaCode: 261102
DisorderType: Malformation syndrome
Name: Partial duplication of chromosome 8
OrphaCode: 262638
DisorderType: Category
Children: Name: Partial duplication of the short arm of chromosome 8
OrphaCode: 262758
DisorderType: Category
Children: Name: 8p23.1 duplication syndrome
OrphaCode: 251076
DisorderType: Malformation syndrome
Name: Trisomy 8p
OrphaCode: 264450
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome 8
OrphaCode: 262896
DisorderType: Category
Children: Name: Trisomy 8q
OrphaCode: 1752
DisorderType: Malformation syndrome
Name: Distal duplication 8q
OrphaCode: 96100
DisorderType: Malformation syndrome
Name: 8q12 microduplication syndrome
OrphaCode: 228399
DisorderType: Malformation syndrome
Name: Partial duplication/triplication of chromosome 9
OrphaCode: 262643
DisorderType: Category
Children: Name: Partial duplication/triplication of the short arm of chromosome 9
OrphaCode: 262767
DisorderType: Category
Children: Name: Trisomy 9p
OrphaCode: 236
DisorderType: Malformation syndrome
Name: Tetrasomy 9p
OrphaCode: 3310
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome 9
OrphaCode: 262905
DisorderType: Category
Children: Name: Distal duplication 9q
OrphaCode: 96101
DisorderType: Malformation syndrome
Name: Non-distal duplication 9q
OrphaCode: 96112
DisorderType: Malformation syndrome
Name: Partial duplication of chromosome 10
OrphaCode: 262648
DisorderType: Category
Children: Name: Partial duplication of the short arm of chromosome 10
OrphaCode: 262776
DisorderType: Category
Children: Name: Trisomy 10p
OrphaCode: 171929
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome 10
OrphaCode: 262914
DisorderType: Category
Children: Name: Non-distal duplication 10q
OrphaCode: 1695
DisorderType: Malformation syndrome
Name: Distal limb deficiencies-micrognathia syndrome
OrphaCode: 1307
DisorderType: Malformation syndrome
Name: Distal duplication 10q
OrphaCode: 96102
DisorderType: Malformation syndrome
Name: 10q22.3q23.3 microduplication syndrome
OrphaCode: 276422
DisorderType: Malformation syndrome
Name: Partial duplication of chromosome 11
OrphaCode: 262653
DisorderType: Category
Children: Name: Partial duplication of the short arm of chromosome 11
OrphaCode: 262785
DisorderType: Category
Children: Name: Beckwith-Wiedemann syndrome due to 11p15 microduplication
OrphaCode: 96076
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to 11p15 microduplication
OrphaCode: 231144
DisorderType: Etiological subtype
Name: 11p15.4 microduplication syndrome
OrphaCode: 300305
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome 11
OrphaCode: 262923
DisorderType: Category
Children: Name: Distal duplication 11q
OrphaCode: 96103
DisorderType: Malformation syndrome
Name: Microtriplication 11q24.1
OrphaCode: 289522
DisorderType: Malformation syndrome
Name: Partial duplication/triplication of the short arm of chromosome 12
OrphaCode: 262658
DisorderType: Category
Children: Name: Tetrasomy 12p
OrphaCode: 884
DisorderType: Malformation syndrome
Name: Trisomy 12p
OrphaCode: 1699
DisorderType: Malformation syndrome
Name: Partial duplication of chromosome 16
OrphaCode: 262672
DisorderType: Category
Children: Name: Partial duplication of the short arm of chromosome 16
OrphaCode: 262794
DisorderType: Category
Children: Name: 16p13.3 microduplication syndrome
OrphaCode: 96078
DisorderType: Malformation syndrome
Name: 16p11.2p12.2 microduplication syndrome
OrphaCode: 261204
DisorderType: Malformation syndrome
Name: 16p13.11 microduplication syndrome
OrphaCode: 261243
DisorderType: Malformation syndrome
Name: Proximal 16p11.2 microduplication syndrome
OrphaCode: 370079
DisorderType: Malformation syndrome
Name: 16p12.1p12.3 triplication syndrome
OrphaCode: 485405
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome 16
OrphaCode: 262959
DisorderType: Category
Children: Name: Distal duplication 16q
OrphaCode: 96106
DisorderType: Malformation syndrome
Name: Partial duplication of chromosome 17
OrphaCode: 262677
DisorderType: Category
Children: Name: Partial duplication of the short arm of chromosome 17
OrphaCode: 262803
DisorderType: Category
Children: Name: 17p11.2 microduplication syndrome
OrphaCode: 1713
DisorderType: Malformation syndrome
Name: Charcot-Marie-Tooth disease type 1A
OrphaCode: 101081
DisorderType: Disease
Name: 17p13.3 microduplication syndrome
OrphaCode: 217385
DisorderType: Malformation syndrome
Name: Trisomy 17p
OrphaCode: 261290
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome 17
OrphaCode: 262968
DisorderType: Category
Children: Name: Distal duplication 17q
OrphaCode: 3379
DisorderType: Malformation syndrome
Name: 17q11.2 microduplication syndrome
OrphaCode: 139474
DisorderType: Malformation syndrome
Name: 17q21.31 microduplication syndrome
OrphaCode: 217340
DisorderType: Malformation syndrome
Name: Familial clubfoot due to 17q23.1q23.2 microduplication
OrphaCode: 238578
DisorderType: Etiological subtype
Name: 17q12 microduplication syndrome
OrphaCode: 261272
DisorderType: Malformation syndrome
Name: PMP22-RAI1 contiguous gene duplication syndrome
OrphaCode: 477817
DisorderType: Malformation syndrome
Name: Partial duplication/triplication of chromosome 18
OrphaCode: 262682
DisorderType: Category
Children: Name: Partial duplication/triplication of the short arm of chromosome 18
OrphaCode: 262812
DisorderType: Category
Children: Name: Trisomy 18p
OrphaCode: 1715
DisorderType: Malformation syndrome
Name: Tetrasomy 18p
OrphaCode: 3307
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome 18
OrphaCode: 262977
DisorderType: Category
Children: Name: Distal duplication 18q
OrphaCode: 1716
DisorderType: Malformation syndrome
Name: Partial duplication of chromosome 19
OrphaCode: 262687
DisorderType: Category
Children: Name: Partial duplication of the long arm of chromosome 19
OrphaCode: 262986
DisorderType: Category
Children: Name: Distal duplication 19q
OrphaCode: 1717
DisorderType: Malformation syndrome
Name: Partial duplication of the short arm of chromosome 19
OrphaCode: 447985
DisorderType: Category
Children: Name: 19p13.3 microduplication syndrome
OrphaCode: 447980
DisorderType: Malformation syndrome
Name: Partial duplication of chromosome 20
OrphaCode: 262692
DisorderType: Category
Children: Name: Trisomy 20p
OrphaCode: 261318
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome 20
OrphaCode: 262995
DisorderType: Category
Children: Name: Distal duplication 20q
OrphaCode: 96107
DisorderType: Malformation syndrome
Name: 20q11.2 microduplication syndrome
OrphaCode: 363659
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome 13
OrphaCode: 262932
DisorderType: Category
Children: Name: Non-distal duplication 13q
OrphaCode: 1702
DisorderType: Malformation syndrome
Name: Distal duplication 13q
OrphaCode: 96105
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome 14
OrphaCode: 262941
DisorderType: Category
Children: Name: Distal duplication 14q
OrphaCode: 1705
DisorderType: Malformation syndrome
Name: 14q11.2 microduplication syndrome
OrphaCode: 261229
DisorderType: Malformation syndrome
Name: 14q32 duplication syndrome
OrphaCode: 488280
DisorderType: Disease
Name: Partial duplication of the long arm of chromosome 15
OrphaCode: 262950
DisorderType: Category
Children: Name: 15q11q13 microduplication syndrome
OrphaCode: 238446
DisorderType: Malformation syndrome
Name: 15q overgrowth syndrome
OrphaCode: 314585
DisorderType: Malformation syndrome
Children: Name: Distal duplication 15q
OrphaCode: 1707
DisorderType: Etiological subtype
Name: Distal triplication 15q
OrphaCode: 314588
DisorderType: Etiological subtype
Name: Partial duplication of the long arm of chromosome 22
OrphaCode: 263004
DisorderType: Category
Children: Name: 22q11.2 duplication syndrome
OrphaCode: 1727
DisorderType: Malformation syndrome
Name: Distal duplication 22q
OrphaCode: 96109
DisorderType: Malformation syndrome
Name: Distal 22q11.2 microduplication syndrome
OrphaCode: 261337
DisorderType: Malformation syndrome
Name: Autosomal uniparental disomy
OrphaCode: 98152
DisorderType: Category
Children: Name: Maternal uniparental disomy
OrphaCode: 98153
DisorderType: Category
Children: Name: Maternal uniparental disomy of chromosome 2
OrphaCode: 96179
DisorderType: Malformation syndrome
Name: Maternal uniparental disomy of chromosome 4
OrphaCode: 96180
DisorderType: Malformation syndrome
Name: Maternal uniparental disomy of chromosome 6
OrphaCode: 96181
DisorderType: Malformation syndrome
Name: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
OrphaCode: 96182
DisorderType: Etiological subtype
Name: Maternal uniparental disomy of chromosome 9
OrphaCode: 96183
DisorderType: Malformation syndrome
Name: Temple syndrome due to maternal uniparental disomy of chromosome 14
OrphaCode: 96184
DisorderType: Etiological subtype
Name: Maternal uniparental disomy of chromosome 16
OrphaCode: 96185
DisorderType: Malformation syndrome
Name: Maternal uniparental disomy of chromosome 20
OrphaCode: 96186
DisorderType: Malformation syndrome
Name: Maternal uniparental disomy of chromosome 21
OrphaCode: 96187
DisorderType: Malformation syndrome
Name: Maternal uniparental disomy of chromosome 22
OrphaCode: 96188
DisorderType: Malformation syndrome
Name: Maternal uniparental disomy of chromosome 13
OrphaCode: 97678
DisorderType: Malformation syndrome
Name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
OrphaCode: 98754
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
OrphaCode: 231147
DisorderType: Etiological subtype
Name: Maternal uniparental disomy of chromosome 1
OrphaCode: 251009
DisorderType: Malformation syndrome
Name: Paternal uniparental disomy
OrphaCode: 98154
DisorderType: Category
Children: Name: Paternal uniparental disomy of chromosome 5
OrphaCode: 96190
DisorderType: Malformation syndrome
Name: Paternal uniparental disomy of chromosome 6
OrphaCode: 96191
DisorderType: Malformation syndrome
Name: Paternal uniparental disomy of chromosome 7
OrphaCode: 96192
DisorderType: Malformation syndrome
Name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
OrphaCode: 96193
DisorderType: Etiological subtype
Name: Paternal uniparental disomy of chromosome 20
OrphaCode: 96194
DisorderType: Malformation syndrome
Name: Paternal uniparental disomy of chromosome 21
OrphaCode: 96195
DisorderType: Malformation syndrome
Name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
OrphaCode: 96334
DisorderType: Etiological subtype
Name: Angelman syndrome due to paternal uniparental disomy of chromosome 15
OrphaCode: 98795
DisorderType: Etiological subtype
Name: Paternal uniparental disomy of chromosome 13
OrphaCode: 99324
DisorderType: Malformation syndrome
Name: Paternal uniparental disomy of chromosome 1
OrphaCode: 251004
DisorderType: Malformation syndrome
Name: Mosaic genome-wide paternal uniparental disomy
OrphaCode: 329813
DisorderType: Malformation syndrome
Name: Autosomal monosomy
OrphaCode: 102020
DisorderType: Category
Children: Name: Total autosomal monosomy
OrphaCode: 98141
DisorderType: Category
Children: Name: Monosomy 22
OrphaCode: 96123
DisorderType: Malformation syndrome
Name: Partial autosomal deletion
OrphaCode: 98142
DisorderType: Category
Children: Name: Partial deletion of chromosome 1
OrphaCode: 261766
DisorderType: Category
Children: Name: Partial deletion of the short arm of chromosome 1
OrphaCode: 261857
DisorderType: Category
Children: Name: 1p36 deletion syndrome
OrphaCode: 1606
DisorderType: Malformation syndrome
Name: 1p21.3 microdeletion syndrome
OrphaCode: 293948
DisorderType: Malformation syndrome
Name: 1p31p32 microdeletion syndrome
OrphaCode: 401986
DisorderType: Malformation syndrome
Name: Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster
OrphaCode: 615986
DisorderType: Etiological subtype
Name: 1p35.2 microdeletion syndrome
OrphaCode: 456298
DisorderType: Malformation syndrome
Name: Partial deletion of the long arm of chromosome 1
OrphaCode: 262001
DisorderType: Category
Children: Name: Distal deletion 1q
OrphaCode: 36367
DisorderType: Malformation syndrome
Name: 1q44 microdeletion syndrome
OrphaCode: 238769
DisorderType: Malformation syndrome
Name: 1q21.1 microdeletion syndrome
OrphaCode: 250989
DisorderType: Malformation syndrome
Name: 1q41q42 microdeletion syndrome
OrphaCode: 250999
DisorderType: Malformation syndrome
Name: Partial deletion of chromosome 2
OrphaCode: 261771
DisorderType: Category
Children: Name: Partial deletion of the short arm of chromosome 2
OrphaCode: 261866
DisorderType: Category
Children: Name: 2p15p16.1 microdeletion syndrome
OrphaCode: 261349
DisorderType: Malformation syndrome
Name: 2p13.2 microdeletion syndrome
OrphaCode: 363680
DisorderType: Malformation syndrome
Name: Homozygous 2p21 microdeletion syndrome
OrphaCode: 369886
DisorderType: Clinical group
Children: Name: Hypotonia-cystinuria type 1 syndrome
OrphaCode: 238517
DisorderType: Clinical group
Children: Name: Hypotonia-cystinuria syndrome
OrphaCode: 163690
DisorderType: Disease
Name: 2p21 microdeletion syndrome
OrphaCode: 163693
DisorderType: Disease
Name: Atypical hypotonia-cystinuria syndrome
OrphaCode: 238523
DisorderType: Disease
Name: 2p21 microdeletion syndrome without cystinuria
OrphaCode: 369881
DisorderType: Malformation syndrome
Name: Partial deletion of the long arm of chromosome 2
OrphaCode: 262010
DisorderType: Category
Children: Name: 2q37 microdeletion syndrome
OrphaCode: 1001
DisorderType: Malformation syndrome
Name: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
OrphaCode: 1617
DisorderType: Etiological subtype
Name: 2q23.1 microdeletion syndrome
OrphaCode: 228402
DisorderType: Malformation syndrome
Name: 2q31.1 microdeletion syndrome
OrphaCode: 251014
DisorderType: Malformation syndrome
Name: 2q32q33 microdeletion syndrome
OrphaCode: 251019
DisorderType: Malformation syndrome
Name: SATB2-associated syndrome due to a chromosomal rearrangement
OrphaCode: 251028
DisorderType: Etiological subtype
Name: Mowat-Wilson syndrome due to monosomy 2q22
OrphaCode: 261537
DisorderType: Etiological subtype
Name: Partial deletion of chromosome 3
OrphaCode: 261776
DisorderType: Category
Children: Name: Partial deletion of the short arm of chromosome 3
OrphaCode: 261875
DisorderType: Category
Children: Name: Distal deletion 3p
OrphaCode: 1620
DisorderType: Malformation syndrome
Name: 3p25.3 microdeletion syndrome
OrphaCode: 435638
DisorderType: Malformation syndrome
Name: Partial deletion of the long arm of chromosome 3
OrphaCode: 262019
DisorderType: Category
Children: Name: Blepharophimosis-ptosis-epicanthus inversus syndrome plus
OrphaCode: 572333
DisorderType: Malformation syndrome
Name: 3q13 microdeletion syndrome
OrphaCode: 1621
DisorderType: Malformation syndrome
Name: 3q29 microdeletion syndrome
OrphaCode: 65286
DisorderType: Malformation syndrome
Name: 3q26q27 microdeletion syndrome
OrphaCode: 356947
DisorderType: Malformation syndrome
Name: 3q27.3 microdeletion syndrome
OrphaCode: 397695
DisorderType: Disease
Name: Partial deletion of chromosome 4
OrphaCode: 261781
DisorderType: Category
Children: Name: Partial deletion of the short arm of chromosome 4
OrphaCode: 261884
DisorderType: Category
Children: Name: Wolf-Hirschhorn syndrome
OrphaCode: 280
DisorderType: Malformation syndrome
Name: Partial deletion of the long arm of chromosome 4
OrphaCode: 262029
DisorderType: Category
Children: Name: Distal deletion 4q
OrphaCode: 96145
DisorderType: Malformation syndrome
Name: 4q21 microdeletion syndrome
OrphaCode: 238750
DisorderType: Malformation syndrome
Name: 4q25 proximal deletion syndrome
OrphaCode: 502437
DisorderType: Malformation syndrome
Name: Partial deletion of chromosome 5
OrphaCode: 261786
DisorderType: Category
Children: Name: Partial deletion of the short arm of chromosome 5
OrphaCode: 261893
DisorderType: Category
Children: Name: Monosomy 5p
OrphaCode: 281
DisorderType: Malformation syndrome
Name: Partial deletion of the long arm of chromosome 5
OrphaCode: 262038
DisorderType: Category
Children: Name: Sotos syndrome
OrphaCode: 821
DisorderType: Disease
Name: Deletion 5q35
OrphaCode: 1627
DisorderType: Malformation syndrome
Name: 5q14.3 microdeletion syndrome
OrphaCode: 228384
DisorderType: Etiological subtype
Name: Familial adenomatous polyposis due to 5q22.2 microdeletion
OrphaCode: 261584
DisorderType: Etiological subtype
Name: Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
OrphaCode: 314655
DisorderType: Etiological subtype
Name: Contractures-developmental delay-Pierre Robin syndrome
OrphaCode: 436003
DisorderType: Malformation syndrome
Name: Partial deletion of chromosome 6
OrphaCode: 261791
DisorderType: Category
Children: Name: Partial deletion of the short arm of chromosome 6
OrphaCode: 261902
DisorderType: Category
Children: Name: Distal deletion 6p
OrphaCode: 96125
DisorderType: Malformation syndrome
Name: 6p22 microdeletion syndrome
OrphaCode: 251046
DisorderType: Malformation syndrome
Name: Partial deletion of the long arm of chromosome 6
OrphaCode: 262047
DisorderType: Category
Children: Name: 6q25.1 microdeletion syndrome
OrphaCode: 664404
DisorderType: Etiological subtype
Name: 6q terminal deletion syndrome
OrphaCode: 75857
DisorderType: Malformation syndrome
Name: 6q16 microdeletion syndrome
OrphaCode: 171829
DisorderType: Disease
Name: 6q25.2q25.3 microdeletion syndrome
OrphaCode: 251056
DisorderType: Malformation syndrome
Name: Partial deletion of chromosome 7
OrphaCode: 261796
DisorderType: Category
Children: Name: Partial deletion of the short arm of chromosome 7
OrphaCode: 261911
DisorderType: Category
Children: Name: Distal deletion 7p
OrphaCode: 96126
DisorderType: Malformation syndrome
Name: Greig cephalopolysyndactyly-contiguous gene syndrome
OrphaCode: 658805
DisorderType: Malformation syndrome
Name: Partial deletion of the long arm of chromosome 7
OrphaCode: 262056
DisorderType: Category
Children: Name: Williams syndrome
OrphaCode: 904
DisorderType: Malformation syndrome
Name: Distal monosomy 7q36
OrphaCode: 1636
DisorderType: Malformation syndrome
Name: 7q31 microdeletion syndrome
OrphaCode: 251061
DisorderType: Malformation syndrome
Name: Distal 7q11.23 microdeletion syndrome
OrphaCode: 254351
DisorderType: Malformation syndrome
Name: Partial deletion of chromosome 8
OrphaCode: 261801
DisorderType: Category
Children: Name: Partial deletion of the short arm of chromosome 8
OrphaCode: 261920
DisorderType: Category
Children: Name: 8p11.2 deletion syndrome
OrphaCode: 251066
DisorderType: Malformation syndrome
Name: 8p23.1 microdeletion syndrome
OrphaCode: 251071
DisorderType: Malformation syndrome
Name: Partial deletion of the long arm of chromosome 8
OrphaCode: 262065
DisorderType: Category
Children: Name: Trichorhinophalangeal syndrome type 2
OrphaCode: 502
DisorderType: Malformation syndrome
Name: Mesomelia-synostoses syndrome
OrphaCode: 2496
DisorderType: Malformation syndrome
Name: 8q22.1 microdeletion syndrome
OrphaCode: 178303
DisorderType: Malformation syndrome
Name: 8q21.11 microdeletion syndrome
OrphaCode: 284160
DisorderType: Malformation syndrome
Name: 8q24.3 microdeletion syndrome
OrphaCode: 508488
DisorderType: Malformation syndrome
Name: Partial deletion of chromosome 9
OrphaCode: 261806
DisorderType: Category
Children: Name: Partial deletion of the short arm of chromosome 9
OrphaCode: 261929
DisorderType: Category
Children: Name: Distal deletion 9p
OrphaCode: 1642
DisorderType: Malformation syndrome
Name: Monosomy 9p
OrphaCode: 261112
DisorderType: Malformation syndrome
Name: 9p13 microdeletion syndrome
OrphaCode: 324313
DisorderType: Malformation syndrome
Name: Partial deletion of the long arm of chromosome 9
OrphaCode: 262074
DisorderType: Category
Children: Name: Monosomy 9q22.3
OrphaCode: 77301
DisorderType: Malformation syndrome
Name: Kleefstra syndrome due to 9q34 microdeletion
OrphaCode: 96147
DisorderType: Etiological subtype
Name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
OrphaCode: 352665
DisorderType: Etiological subtype
Name: 9q31.1q31.3 microdeletion syndrome
OrphaCode: 401923
DisorderType: Malformation syndrome
Name: 9q33.3q34.11 microdeletion syndrome
OrphaCode: 495818
DisorderType: Malformation syndrome
Name: 9q21.13 microdeletion syndrome
OrphaCode: 531151
DisorderType: Malformation syndrome
Name: Partial deletion of chromosome 10
OrphaCode: 261811
DisorderType: Category
Children: Name: Partial deletion of the short arm of chromosome 10
OrphaCode: 261938
DisorderType: Category
Children: Name: Distal deletion 10p
OrphaCode: 1580
DisorderType: Malformation syndrome
Name: Hypoparathyroidism-sensorineural deafness-renal disease syndrome
OrphaCode: 2237
DisorderType: Malformation syndrome
Name: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
OrphaCode: 284169
DisorderType: Clinical subtype
Name: Partial deletion of the long arm of chromosome 10
OrphaCode: 262083
DisorderType: Category
Children: Name: Juvenile polyposis of infancy
OrphaCode: 79076
DisorderType: Clinical subtype
Name: Non-distal deletion 10q
OrphaCode: 1581
DisorderType: Malformation syndrome
Name: Distal deletion 10q
OrphaCode: 96148
DisorderType: Malformation syndrome
Name: 10q22.3q23.3 microdeletion syndrome
OrphaCode: 276413
DisorderType: Malformation syndrome
Name: Partial deletion of chromosome 11
OrphaCode: 261816
DisorderType: Category
Children: Name: Partial deletion of the short arm of chromosome 11
OrphaCode: 261947
DisorderType: Category
Children: Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: Potocki-Shaffer syndrome
OrphaCode: 52022
DisorderType: Malformation syndrome
Name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion
OrphaCode: 231127
DisorderType: Etiological subtype
Name: Partial deletion of the long arm of chromosome 11
OrphaCode: 262092
DisorderType: Category
Children: Name: Jacobsen syndrome
OrphaCode: 2308
DisorderType: Malformation syndrome
Name: Otodental syndrome
OrphaCode: 2791
DisorderType: Malformation syndrome
Name: Paris-Trousseau thrombocytopenia
OrphaCode: 851
DisorderType: Disease
Name: Oculootodental syndrome
OrphaCode: 99806
DisorderType: Malformation syndrome
Name: 11q22.2q22.3 microdeletion syndrome
OrphaCode: 444002
DisorderType: Malformation syndrome
Name: Partial deletion of chromosome 16
OrphaCode: 261826
DisorderType: Category
Children: Name: Partial deletion of the short arm of chromosome 16
OrphaCode: 261956
DisorderType: Category
Children: Name: Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
OrphaCode: 88924
DisorderType: Disease
Name: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
OrphaCode: 98791
DisorderType: Malformation syndrome
Name: Proximal 16p11.2 microdeletion syndrome
OrphaCode: 261197
DisorderType: Malformation syndrome
Name: 16p11.2p12.2 microdeletion syndrome
OrphaCode: 261211
DisorderType: Malformation syndrome
Name: Distal 16p11.2 microdeletion syndrome
OrphaCode: 261222
DisorderType: Malformation syndrome
Name: 16p13.11 microdeletion syndrome
OrphaCode: 261236
DisorderType: Malformation syndrome
Name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
OrphaCode: 353281
DisorderType: Etiological subtype
Name: Hao-Fountain syndrome due to 16p13.2 microdeletion
OrphaCode: 500055
DisorderType: Etiological subtype
Name: Partial deletion of the long arm of chromosome 16
OrphaCode: 262128
DisorderType: Category
Children: Name: 16q22 deletion syndrome
OrphaCode: 658540
DisorderType: Disease
Name: 16q24.3 microdeletion syndrome
OrphaCode: 261250
DisorderType: Malformation syndrome
Name: 16q24.1 microdeletion syndrome
OrphaCode: 352629
DisorderType: Disease
Name: Partial deletion of chromosome 17
OrphaCode: 261831
DisorderType: Category
Children: Name: Partial deletion of the short arm of chromosome 17
OrphaCode: 261965
DisorderType: Category
Children: Name: Hereditary neuropathy with liability to pressure palsies
OrphaCode: 640
DisorderType: Malformation syndrome
Name: Smith-Magenis syndrome
OrphaCode: 819
DisorderType: Malformation syndrome
Name: Miller-Dieker syndrome
OrphaCode: 531
DisorderType: Malformation syndrome
Name: Distal 17p13.3 microdeletion syndrome
OrphaCode: 261257
DisorderType: Malformation syndrome
Name: Distal 17p13.1 microdeletion syndrome
OrphaCode: 319171
DisorderType: Malformation syndrome
Name: Partial deletion of the long arm of chromosome 17
OrphaCode: 262137
DisorderType: Category
Children: Name: 17q24.2 microdeletion syndrome
OrphaCode: 529962
DisorderType: Malformation syndrome
Name: Distal deletion 17q
OrphaCode: 1597
DisorderType: Malformation syndrome
Name: 17q11 microdeletion syndrome
OrphaCode: 97685
DisorderType: Clinical subtype
Name: 17q12 microdeletion syndrome
OrphaCode: 261265
DisorderType: Malformation syndrome
Name: 17q23.1q23.2 microdeletion syndrome
OrphaCode: 261279
DisorderType: Malformation syndrome
Name: 17q21.31 microdeletion syndrome
OrphaCode: 363958
DisorderType: Etiological subtype
Name: Partial deletion of chromosome 18
OrphaCode: 261836
DisorderType: Category
Children: Name: Partial deletion of the short arm of chromosome 18
OrphaCode: 261974
DisorderType: Category
Children: Name: Monosomy 18p
OrphaCode: 1598
DisorderType: Disease
Name: Partial deletion of the long arm of chromosome 18
OrphaCode: 262146
DisorderType: Category
Children: Name: Monosomy 18q
OrphaCode: 1600
DisorderType: Malformation syndrome
Name: Partial deletion of chromosome 19
OrphaCode: 261841
DisorderType: Category
Children: Name: Partial deletion of the short arm of chromosome 19
OrphaCode: 261983
DisorderType: Category
Children: Name: Distal deletion 19p
OrphaCode: 96129
DisorderType: Malformation syndrome
Name: 19p13.12 microdeletion syndrome
OrphaCode: 254346
DisorderType: Malformation syndrome
Name: 19p13.13 microdeletion syndrome
OrphaCode: 357001
DisorderType: Malformation syndrome
Name: Partial deletion of the long arm of chromosome 19
OrphaCode: 262155
DisorderType: Category
Children: Name: 19q13.11 microdeletion syndrome
OrphaCode: 217346
DisorderType: Malformation syndrome
Name: Partial deletion of chromosome 20
OrphaCode: 261846
DisorderType: Category
Children: Name: Partial deletion of the short arm of chromosome 20
OrphaCode: 261992
DisorderType: Category
Children: Name: 20p12.3 microdeletion syndrome
OrphaCode: 261295
DisorderType: Malformation syndrome
Name: Alagille syndrome due to 20p12 microdeletion
OrphaCode: 261600
DisorderType: Etiological subtype
Name: 20p13 microdeletion syndrome
OrphaCode: 313781
DisorderType: Malformation syndrome
Name: Partial deletion of the long arm of chromosome 20
OrphaCode: 262164
DisorderType: Category
Children: Name: Paternal 20q13.2q13.3 microdeletion syndrome
OrphaCode: 261304
DisorderType: Malformation syndrome
Name: 20q13.33 microdeletion syndrome
OrphaCode: 261311
DisorderType: Malformation syndrome
Name: Okihiro syndrome due to 20q13 microdeletion
OrphaCode: 261638
DisorderType: Etiological subtype
Name: 20q11.2 microdeletion syndrome
OrphaCode: 444051
DisorderType: Malformation syndrome
Name: Partial deletion of the long arm of chromosome 13
OrphaCode: 262101
DisorderType: Category
Children: Name: Monosomy 13q14
OrphaCode: 1587
DisorderType: Malformation syndrome
Name: Distal deletion 13q
OrphaCode: 1590
DisorderType: Malformation syndrome
Name: Monosomy 13q34
OrphaCode: 96168
DisorderType: Malformation syndrome
Name: 13q12.3 microdeletion syndrome
OrphaCode: 412035
DisorderType: Malformation syndrome
Name: Partial deletion of the long arm of chromosome 14
OrphaCode: 262110
DisorderType: Category
Children: Name: Distal deletion 14q
OrphaCode: 96150
DisorderType: Malformation syndrome
Name: Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
OrphaCode: 254528
DisorderType: Etiological subtype
Name: Temple syndrome due to paternal 14q32.2 microdeletion
OrphaCode: 254525
DisorderType: Etiological subtype
Name: 14q11.2 microdeletion syndrome
OrphaCode: 261120
DisorderType: Malformation syndrome
Name: FOXG1 syndrome due to 14q12 microdeletion
OrphaCode: 261144
DisorderType: Clinical subtype
Name: 14q22q23 microdeletion syndrome
OrphaCode: 264200
DisorderType: Malformation syndrome
Name: 14q24.1q24.3 microdeletion syndrome
OrphaCode: 401935
DisorderType: Malformation syndrome
Name: Partial deletion of the long arm of chromosome 15
OrphaCode: 262119
DisorderType: Category
Children: Name: Distal deletion 15q
OrphaCode: 1596
DisorderType: Malformation syndrome
Name: Deafness-infertility syndrome
OrphaCode: 94064
DisorderType: Malformation syndrome
Name: 15q24 microdeletion syndrome
OrphaCode: 94065
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal 15q11q13 deletion
OrphaCode: 98793
DisorderType: Etiological subtype
Children: Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
OrphaCode: 177901
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
OrphaCode: 177904
DisorderType: Etiological subtype
Name: Angelman syndrome due to maternal 15q11q13 deletion
OrphaCode: 98794
DisorderType: Etiological subtype
Name: 15q13.3 microdeletion syndrome
OrphaCode: 199318
DisorderType: Malformation syndrome
Name: 15q11.2 microdeletion syndrome
OrphaCode: 261183
DisorderType: Malformation syndrome
Name: Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
OrphaCode: 261190
DisorderType: Clinical subtype
Name: Partial deletion of the long arm of chromosome 21
OrphaCode: 262173
DisorderType: Category
Children: Name: 21q deletion syndrome
OrphaCode: 574
DisorderType: Malformation syndrome
Name: 21q22.11q22.12 microdeletion syndrome
OrphaCode: 261323
DisorderType: Malformation syndrome
Name: DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
OrphaCode: 268261
DisorderType: Etiological subtype
Name: Partial deletion of the long arm of chromosome 22
OrphaCode: 262182
DisorderType: Category
Children: Name: 22q11.2 deletion syndrome
OrphaCode: 567
DisorderType: Malformation syndrome
Name: Phelan-McDermid syndrome due to 22q13.3 deletion
OrphaCode: 662169
DisorderType: Etiological subtype
Name: Distal 22q11.2 microdeletion syndrome
OrphaCode: 261330
DisorderType: Malformation syndrome
Name: Partial deletion of chromosome 12
OrphaCode: 282124
DisorderType: Category
Children: Name: Partial deletion of the long arm of chromosome 12
OrphaCode: 261821
DisorderType: Category
Children: Name: 12q14 microdeletion syndrome
OrphaCode: 94063
DisorderType: Malformation syndrome
Name: Distal deletion 12q
OrphaCode: 96149
DisorderType: Malformation syndrome
Name: Non-distal deletion 12q
OrphaCode: 96160
DisorderType: Malformation syndrome
Name: 12q15q21.1 microdeletion syndrome
OrphaCode: 289513
DisorderType: Malformation syndrome
Name: Partial deletion of the short arm of chromosome 12
OrphaCode: 316244
DisorderType: Category
Children: Name: Distal deletion 12p
OrphaCode: 280325
DisorderType: Malformation syndrome
Name: 12p12.1 microdeletion syndrome
OrphaCode: 313884
DisorderType: Clinical subtype
Name: Complex chromosomal rearrangement
OrphaCode: 263708
DisorderType: Category
Children: Name: Cat-eye syndrome
OrphaCode: 195
DisorderType: Malformation syndrome
Name: Inverted duplicated chromosome 15 syndrome
OrphaCode: 3306
DisorderType: Malformation syndrome
Name: 8p inverted duplication/deletion syndrome
OrphaCode: 96092
DisorderType: Malformation syndrome
Name: Recombinant 8 syndrome
OrphaCode: 96167
DisorderType: Malformation syndrome
Name: Emanuel syndrome
OrphaCode: 96170
DisorderType: Malformation syndrome
Name: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
OrphaCode: 231130
DisorderType: Etiological subtype
Name: Intellectual disability-seizures-macrocephaly-obesity syndrome
OrphaCode: 369950
DisorderType: Disease
Name: Overgrowth syndrome with 2q37 translocation
OrphaCode: 498488
DisorderType: Malformation syndrome
Name: Sex-chromosome anomaly
OrphaCode: 98155
DisorderType: Category
Children: Name: Sex-chromosome number anomaly
OrphaCode: 98156
DisorderType: Category
Children: Name: X chromosome number anomaly
OrphaCode: 263714
DisorderType: Category
Children: Name: X chromosome number anomaly with female phenotype
OrphaCode: 263717
DisorderType: Category
Children: Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: Polysomy of X chromosome
OrphaCode: 263723
DisorderType: Category
Children: Name: Pentasomy X
OrphaCode: 11
DisorderType: Malformation syndrome
Name: Tetrasomy X
OrphaCode: 9
DisorderType: Malformation syndrome
Name: Trisomy X
OrphaCode: 3375
DisorderType: Malformation syndrome
Name: X chromosome number anomaly with male phenotype
OrphaCode: 263720
DisorderType: Category
Children: Name: 48,XXXY syndrome
OrphaCode: 96263
DisorderType: Malformation syndrome
Name: 49,XXXXY syndrome
OrphaCode: 96264
DisorderType: Malformation syndrome
Name: Y chromosome number anomaly
OrphaCode: 263746
DisorderType: Category
Children: Name: 47,XYY syndrome
OrphaCode: 8
DisorderType: Malformation syndrome
Name: 45,X/46,XY mixed gonadal dysgenesis
OrphaCode: 1772
DisorderType: Malformation syndrome
Name: 48,XYYY syndrome
OrphaCode: 99329
DisorderType: Malformation syndrome
Name: 49,XYYYY syndrome
OrphaCode: 99330
DisorderType: Malformation syndrome
Name: X and Y chromosomal anomaly
OrphaCode: 263749
DisorderType: Category
Children: Name: 48,XXYY syndrome
OrphaCode: 10
DisorderType: Malformation syndrome
Name: Tetragametic chimerism
OrphaCode: 199310
DisorderType: Malformation syndrome
Name: 49,XXXYY syndrome
OrphaCode: 261534
DisorderType: Malformation syndrome
Name: Sex-chromosome structural anomaly
OrphaCode: 98157
DisorderType: Category
Children: Name: Chromosome Y structural anomaly
OrphaCode: 98158
DisorderType: Category
Children: Name: Chromosome Y microdeletion
OrphaCode: 1646
DisorderType: Malformation syndrome
Name: Isochromosome Y
OrphaCode: 96325
DisorderType: Category
Children: Name: Isochromosomy Yp
OrphaCode: 98797
DisorderType: Malformation syndrome
Name: Isochromosomy Yq
OrphaCode: 98798
DisorderType: Malformation syndrome
Name: Ring chromosome Y syndrome
OrphaCode: 261529
DisorderType: Malformation syndrome
Name: Chromosome X structural anomaly
OrphaCode: 98159
DisorderType: Category
Children: Name: X small rings
OrphaCode: 96201
DisorderType: Malformation syndrome
Name: Partial deletion of chromosome X
OrphaCode: 263726
DisorderType: Category
Children: Name: Partial deletion of the short arm of the chromosome X
OrphaCode: 263731
DisorderType: Category
Children: Name: Xp22.3 microdeletion syndrome
OrphaCode: 1643
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-retinitis pigmentosa syndrome
OrphaCode: 85332
DisorderType: Disease
Name: Xp21 deletion syndrome
OrphaCode: 261476
DisorderType: Disease
Name: Atypical Norrie disease due to Xp11.3 microdeletion
OrphaCode: 261501
DisorderType: Malformation syndrome
Name: Partial deletion of the long arm of chromosome X
OrphaCode: 263756
DisorderType: Category
Children: Name: X-linked Alport syndrome-diffuse leiomyomatosis
OrphaCode: 1018
DisorderType: Clinical subtype
Name: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
OrphaCode: 86818
DisorderType: Disease
Name: X-linked myotubular myopathy-abnormal genitalia syndrome
OrphaCode: 456328
DisorderType: Disease
Name: Partial duplication of chromosome X
OrphaCode: 263768
DisorderType: Category
Children: Name: Partial duplication of the short arm of chromosome X
OrphaCode: 263775
DisorderType: Category
Children: Name: Microduplication Xp11.22p11.23 syndrome
OrphaCode: 217377
DisorderType: Malformation syndrome
Name: Xp22.13p22.2 duplication syndrome
OrphaCode: 284180
DisorderType: Malformation syndrome
Name: Partial duplication of the long arm of chromosome X
OrphaCode: 263783
DisorderType: Category
Children: Name: Xq25 microduplication syndrome
OrphaCode: 521258
DisorderType: Malformation syndrome
Name: Proximal Xq28 duplication syndrome
OrphaCode: 1762
DisorderType: Malformation syndrome
Name: Xq27.3q28 duplication syndrome
OrphaCode: 261483
DisorderType: Malformation syndrome
Name: Distal Xq28 microduplication syndrome
OrphaCode: 293939
DisorderType: Malformation syndrome
Name: Xq12-q13.3 duplication syndrome
OrphaCode: 314389
DisorderType: Malformation syndrome
Name: Uniparental disomy of chromosome X
OrphaCode: 263793
DisorderType: Category
Children: Name: Maternal uniparental disomy of chromosome X
OrphaCode: 261519
DisorderType: Malformation syndrome
Name: Paternal uniparental disomy of chromosome X
OrphaCode: 261524
DisorderType: Malformation syndrome
Name: Multiple congenital anomalies/dysmorphic syndrome
OrphaCode: 68341
DisorderType: Category
Children: Name: Lethal multiple congenital anomalies/dysmorphic syndrome
OrphaCode: 459787
DisorderType: Category
Children: Name: Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
OrphaCode: 2570
DisorderType: Malformation syndrome
Name: Lethal brain and heart developmental defects
OrphaCode: 580933
DisorderType: Malformation syndrome
Name: Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome
OrphaCode: 615954
DisorderType: Clinical syndrome
Children: Name: Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation
OrphaCode: 615983
DisorderType: Etiological subtype
Name: Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster
OrphaCode: 615986
DisorderType: Etiological subtype
Name: Diaphragmatic hernia-short bowel-asplenia syndrome
OrphaCode: 527468
DisorderType: Malformation syndrome
Name: Aprosencephaly/atelencephaly spectrum
OrphaCode: 566847
DisorderType: Morphological anomaly
Children: Name: Atelencephaly
OrphaCode: 566852
DisorderType: Clinical subtype
Name: Aprosencephaly
OrphaCode: 566857
DisorderType: Clinical subtype
Name: PAICS deficiency
OrphaCode: 633099
DisorderType: Malformation syndrome
Name: Lethal hydranencephaly-diaphragmatic hernia syndrome
OrphaCode: 480528
DisorderType: Malformation syndrome
Name: Meckel syndrome
OrphaCode: 564
DisorderType: Malformation syndrome
Name: Bartsocas-Papas syndrome
OrphaCode: 1234
DisorderType: Malformation syndrome
Name: Thakker-Donnai syndrome
OrphaCode: 1780
DisorderType: Malformation syndrome
Name: Edinburgh malformation syndrome
OrphaCode: 1895
DisorderType: Malformation syndrome
Name: Diprosopus
OrphaCode: 1681
DisorderType: Morphological anomaly
Name: Endocrine-cerebro-osteodysplasia syndrome
OrphaCode: 199332
DisorderType: Malformation syndrome
Name: Lethal polymalformative syndrome, Boissel type
OrphaCode: 210144
DisorderType: Malformation syndrome
Name: Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
OrphaCode: 444069
DisorderType: Malformation syndrome
Name: Lethal multiple pterygium syndrome
OrphaCode: 33108
DisorderType: Malformation syndrome
Name: Lethal faciocardiomelic dysplasia
OrphaCode: 1972
DisorderType: Malformation syndrome
Name: Macrosomia-microphthalmia-cleft palate syndrome
OrphaCode: 2432
DisorderType: Malformation syndrome
Name: Microphthalmia-microtia-fetal akinesia syndrome
OrphaCode: 2547
DisorderType: Malformation syndrome
Name: Triploidy
OrphaCode: 3376
DisorderType: Malformation syndrome
Name: Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
OrphaCode: 500135
DisorderType: Malformation syndrome
Name: German syndrome
OrphaCode: 2077
DisorderType: Malformation syndrome
Name: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
OrphaCode: 102283
DisorderType: Category
Children: Name: Spastic paraplegia-severe developmental delay-epilepsy syndrome
OrphaCode: 464282
DisorderType: Disease
Name: Short stature-brachydactyly-obesity-global developmental delay syndrome
OrphaCode: 464288
DisorderType: Malformation syndrome
Name: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
OrphaCode: 496641
DisorderType: Malformation syndrome
Name: COG1-CDG
OrphaCode: 263508
DisorderType: Disease
Name: Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
OrphaCode: 314555
DisorderType: Malformation syndrome
Name: FG syndrome type 1
OrphaCode: 93932
DisorderType: Disease
Name: Angelman syndrome
OrphaCode: 72
DisorderType: Malformation syndrome
Children: Name: Angelman syndrome due to maternal 15q11q13 deletion
OrphaCode: 98794
DisorderType: Etiological subtype
Name: Angelman syndrome due to paternal uniparental disomy of chromosome 15
OrphaCode: 98795
DisorderType: Etiological subtype
Name: Angelman syndrome due to imprinting defect in 15q11-q13
OrphaCode: 411515
DisorderType: Etiological subtype
Name: Angelman syndrome due to a point mutation
OrphaCode: 411511
DisorderType: Etiological subtype
Name: Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
OrphaCode: 280679
DisorderType: Disease
Name: Microphthalmia-brain atrophy syndrome
OrphaCode: 77299
DisorderType: Malformation syndrome
Name: 48,XXXY syndrome
OrphaCode: 96263
DisorderType: Malformation syndrome
Name: S-adenosylhomocysteine hydrolase deficiency
OrphaCode: 88618
DisorderType: Disease
Name: 49,XXXXY syndrome
OrphaCode: 96264
DisorderType: Malformation syndrome
Name: MEHMO syndrome
OrphaCode: 85282
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Schimke type
OrphaCode: 85285
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Stocco Dos Santos type
OrphaCode: 85288
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-macrocephaly-macroorchidism syndrome
OrphaCode: 85320
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Seemanova type
OrphaCode: 85323
DisorderType: Disease
Name: X-linked intellectual disability, Shrimpton type
OrphaCode: 85324
DisorderType: Malformation syndrome
Name: X-linked spinocerebellar ataxia type 3
OrphaCode: 85297
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-acromegaly-hyperactivity syndrome
OrphaCode: 85327
DisorderType: Disease
Name: X-linked intellectual disability, Najm type
OrphaCode: 163937
DisorderType: Disease
Name: X-linked intellectual disability, Nascimento type
OrphaCode: 163956
DisorderType: Disease
Name: X-linked cerebral-cerebellar-coloboma syndrome
OrphaCode: 163961
DisorderType: Disease
Name: X-linked dominant chondrodysplasia, Chassaing-Lacombe type
OrphaCode: 163966
DisorderType: Disease
Name: X-linked intellectual disability, Cilliers type
OrphaCode: 163971
DisorderType: Disease
Name: X-linked intellectual disability, Van Esch type
OrphaCode: 163976
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-craniofacioskeletal syndrome
OrphaCode: 163979
DisorderType: Disease
Name: ARX-related encephalopathy-brain malformation spectrum
OrphaCode: 423655
DisorderType: Clinical group
Children: Name: Corpus callosum agenesis-abnormal genitalia syndrome
OrphaCode: 2508
DisorderType: Malformation syndrome
Name: X-linked lissencephaly with abnormal genitalia
OrphaCode: 452
DisorderType: Malformation syndrome
Name: 48,XYYY syndrome
OrphaCode: 99329
DisorderType: Malformation syndrome
Name: 17q11.2 microduplication syndrome
OrphaCode: 139474
DisorderType: Malformation syndrome
Name: Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
OrphaCode: 163649
DisorderType: Disease
Name: Spondyloepiphyseal dysplasia tarda, Kohn type
OrphaCode: 163665
DisorderType: Disease
Name: Macrocephaly-intellectual disability-autism syndrome
OrphaCode: 210548
DisorderType: Disease
Name: Polymicrogyria with optic nerve hypoplasia
OrphaCode: 250972
DisorderType: Malformation syndrome
Name: Temple syndrome
OrphaCode: 254516
DisorderType: Malformation syndrome
Children: Name: Temple syndrome due to maternal uniparental disomy of chromosome 14
OrphaCode: 96184
DisorderType: Etiological subtype
Name: Temple syndrome due to paternal 14q32.2 microdeletion
OrphaCode: 254525
DisorderType: Etiological subtype
Name: Temple syndrome due to paternal 14q32.2 hypomethylation
OrphaCode: 254531
DisorderType: Etiological subtype
Name: 2q23.1 microduplication syndrome
OrphaCode: 313947
DisorderType: Malformation syndrome
Name: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
OrphaCode: 500159
DisorderType: Malformation syndrome
Name: 9p13 microdeletion syndrome
OrphaCode: 324313
DisorderType: Malformation syndrome
Name: Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
OrphaCode: 352530
DisorderType: Disease
Name: Intellectual disability-strabismus syndrome
OrphaCode: 363528
DisorderType: Disease
Name: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
OrphaCode: 369939
DisorderType: Malformation syndrome
Name: FOXP1 Syndrome
OrphaCode: 391372
DisorderType: Malformation syndrome
Name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
OrphaCode: 391408
DisorderType: Disease
Name: MEND syndrome
OrphaCode: 401973
DisorderType: Malformation syndrome
Name: Keppen-Lubinsky syndrome
OrphaCode: 435628
DisorderType: Malformation syndrome
Name: Joubert syndrome with ocular defect
OrphaCode: 220493
DisorderType: Malformation syndrome
Name: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
OrphaCode: 83473
DisorderType: Malformation syndrome
Name: COG7-CDG
OrphaCode: 79333
DisorderType: Disease
Name: Muenke syndrome
OrphaCode: 53271
DisorderType: Malformation syndrome
Name: Hurler syndrome
OrphaCode: 93473
DisorderType: Clinical subtype
Name: Ogden syndrome
OrphaCode: 276432
DisorderType: Malformation syndrome
Name: Joubert syndrome with renal defect
OrphaCode: 220497
DisorderType: Malformation syndrome
Name: 2q32q33 microdeletion syndrome
OrphaCode: 251019
DisorderType: Malformation syndrome
Name: Lathosterolosis
OrphaCode: 46059
DisorderType: Disease
Name: Pontocerebellar hypoplasia type 10
OrphaCode: 411493
DisorderType: Malformation syndrome
Name: Microphthalmia with brain and digit anomalies
OrphaCode: 139471
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 7
OrphaCode: 284339
DisorderType: Malformation syndrome
Name: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
OrphaCode: 300570
DisorderType: Disease
Name: RIN2 syndrome
OrphaCode: 217335
DisorderType: Malformation syndrome
Name: Spondylo-ocular syndrome
OrphaCode: 85194
DisorderType: Malformation syndrome
Name: Frontonasal dysplasia-alopecia-genital anomalies syndrome
OrphaCode: 228390
DisorderType: Malformation syndrome
Name: Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
OrphaCode: 397709
DisorderType: Malformation syndrome
Name: Microcephaly-thin corpus callosum-intellectual disability syndrome
OrphaCode: 397951
DisorderType: Disease
Name: Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
OrphaCode: 397973
DisorderType: Disease
Name: 9q31.1q31.3 microdeletion syndrome
OrphaCode: 401923
DisorderType: Malformation syndrome
Name: 14q24.1q24.3 microdeletion syndrome
OrphaCode: 401935
DisorderType: Malformation syndrome
Name: Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
OrphaCode: 404440
DisorderType: Malformation syndrome
Name: Tatton-Brown-Rahman syndrome
OrphaCode: 404443
DisorderType: Malformation syndrome
Name: ADNP syndrome
OrphaCode: 404448
DisorderType: Malformation syndrome
Name: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
OrphaCode: 404451
DisorderType: Malformation syndrome
Name: Severe intellectual disability-progressive spastic diplegia syndrome
OrphaCode: 404473
DisorderType: Malformation syndrome
Name: Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
OrphaCode: 496693
DisorderType: Malformation syndrome
Name: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
OrphaCode: 411986
DisorderType: Malformation syndrome
Name: 13q12.3 microdeletion syndrome
OrphaCode: 412035
DisorderType: Malformation syndrome
Name: Temple-Baraitser syndrome
OrphaCode: 420561
DisorderType: Disease
Name: Cono-spondylar dysplasia
OrphaCode: 420794
DisorderType: Malformation syndrome
Name: Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
OrphaCode: 423306
DisorderType: Malformation syndrome
Name: X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
OrphaCode: 431140
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 14
OrphaCode: 434179
DisorderType: Malformation syndrome
Name: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
OrphaCode: 435938
DisorderType: Malformation syndrome
Name: HIDEA syndrome
OrphaCode: 436141
DisorderType: Malformation syndrome
Name: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
OrphaCode: 438213
DisorderType: Disease
Children: Name: Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
OrphaCode: 314655
DisorderType: Etiological subtype
Name: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
OrphaCode: 438216
DisorderType: Etiological subtype
Name: PDE4D haploinsufficiency syndrome
OrphaCode: 439822
DisorderType: Malformation syndrome
Name: 11q22.2q22.3 microdeletion syndrome
OrphaCode: 444002
DisorderType: Malformation syndrome
Name: 20q11.2 microdeletion syndrome
OrphaCode: 444051
DisorderType: Malformation syndrome
Name: Cerebellar-facial-dental syndrome
OrphaCode: 444072
DisorderType: Malformation syndrome
Name: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
OrphaCode: 444077
DisorderType: Malformation syndrome
Name: 2q23.1 microdeletion syndrome
OrphaCode: 228402
DisorderType: Malformation syndrome
Name: CHIME syndrome
OrphaCode: 3474
DisorderType: Malformation syndrome
Name: Brachydactyly-nystagmus-cerebellar ataxia syndrome
OrphaCode: 1246
DisorderType: Malformation syndrome
Name: Desmosterolosis
OrphaCode: 35107
DisorderType: Disease
Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: Isolated anencephaly/exencephaly
OrphaCode: 1048
DisorderType: Morphological anomaly
Children: Name: Isolated anencephaly
OrphaCode: 563609
DisorderType: Clinical subtype
Name: Isolated exencephaly
OrphaCode: 563612
DisorderType: Clinical subtype
Name: Polymicrogyria
OrphaCode: 35981
DisorderType: Clinical group
Children: Name: Bilateral polymicrogyria
OrphaCode: 268940
DisorderType: Morphological anomaly
Children: Name: Bilateral perisylvian polymicrogyria
OrphaCode: 98889
DisorderType: Clinical subtype
Name: Bilateral frontoparietal polymicrogyria
OrphaCode: 101070
DisorderType: Clinical subtype
Name: Bilateral parasagittal parieto-occipital polymicrogyria
OrphaCode: 208441
DisorderType: Clinical subtype
Name: Bilateral frontal polymicrogyria
OrphaCode: 208444
DisorderType: Clinical subtype
Name: Bilateral generalized polymicrogyria
OrphaCode: 208447
DisorderType: Clinical subtype
Name: Unilateral polymicrogyria
OrphaCode: 268943
DisorderType: Morphological anomaly
Children: Name: Unilateral hemispheric polymicrogyria
OrphaCode: 101071
DisorderType: Clinical subtype
Name: Unilateral focal polymicrogyria
OrphaCode: 268947
DisorderType: Clinical subtype
Name: Congenital cataracts-facial dysmorphism-neuropathy syndrome
OrphaCode: 48431
DisorderType: Malformation syndrome
Name: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
OrphaCode: 52055
DisorderType: Malformation syndrome
Name: X-linked creatine transporter deficiency
OrphaCode: 52503
DisorderType: Disease
Name: Atelosteogenesis type II
OrphaCode: 56304
DisorderType: Malformation syndrome
Name: Atelosteogenesis type III
OrphaCode: 56305
DisorderType: Malformation syndrome
Name: Cerebrooculonasal syndrome
OrphaCode: 66625
DisorderType: Malformation syndrome
Name: Goldberg-Shprintzen megacolon syndrome
OrphaCode: 66629
DisorderType: Malformation syndrome
Name: Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
OrphaCode: 73246
DisorderType: Malformation syndrome
Name: Brain malformation-congenital heart disease-postaxial polydactyly syndrome
OrphaCode: 75389
DisorderType: Malformation syndrome
Name: Mandibulofacial dysostosis-microcephaly syndrome
OrphaCode: 79113
DisorderType: Malformation syndrome
Name: Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
OrphaCode: 83617
DisorderType: Malformation syndrome
Name: Keutel syndrome
OrphaCode: 85202
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Abidi type
OrphaCode: 85273
DisorderType: Malformation syndrome
Name: Syndromic X-linked intellectual disability 7
OrphaCode: 85274
DisorderType: Malformation syndrome
Name: Microphthalmia-ankyloblepharon-intellectual disability syndrome
OrphaCode: 85275
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Armfield type
OrphaCode: 85276
DisorderType: Malformation syndrome
Name: Christianson syndrome
OrphaCode: 85278
DisorderType: Malformation syndrome
Name: KDM5C-related syndromic X-linked intellectual disability
OrphaCode: 85279
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
OrphaCode: 85280
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Miles-Carpenter type
OrphaCode: 85283
DisorderType: Malformation syndrome
Name: BRESEK syndrome
OrphaCode: 85284
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Shashi type
OrphaCode: 85286
DisorderType: Malformation syndrome
Name: Overgrowth-macrocephaly-facial dysmorphism syndrome
OrphaCode: 137634
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Siderius type
OrphaCode: 85287
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Cabezas type
OrphaCode: 85293
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
OrphaCode: 85317
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
OrphaCode: 85319
DisorderType: Malformation syndrome
Name: Deafness-intellectual disability syndrome, Martin-Probst type
OrphaCode: 85321
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Pai type
OrphaCode: 85322
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Stevenson type
OrphaCode: 85325
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Stoll type
OrphaCode: 85326
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
OrphaCode: 85329
DisorderType: Malformation syndrome
Name: Fried syndrome
OrphaCode: 85335
DisorderType: Malformation syndrome
Name: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
OrphaCode: 86818
DisorderType: Disease
Name: Sialidosis type 2
OrphaCode: 87876
DisorderType: Disease
Children: Name: Juvenile sialidosis type 2
OrphaCode: 93399
DisorderType: Clinical subtype
Name: Congenital sialidosis type 2
OrphaCode: 93400
DisorderType: Clinical subtype
Name: Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
OrphaCode: 94066
DisorderType: Malformation syndrome
Name: Distal deletion 6p
OrphaCode: 96125
DisorderType: Malformation syndrome
Name: Koolen-De Vries syndrome
OrphaCode: 96169
DisorderType: Malformation syndrome
Children: Name: 17q21.31 microdeletion syndrome
OrphaCode: 363958
DisorderType: Etiological subtype
Name: Koolen-De Vries syndrome due to a point mutation
OrphaCode: 363965
DisorderType: Etiological subtype
Name: Bohring-Opitz syndrome
OrphaCode: 97297
DisorderType: Malformation syndrome
Name: Biemond syndrome type 2
OrphaCode: 141333
DisorderType: Disease
Name: 15q13.3 microdeletion syndrome
OrphaCode: 199318
DisorderType: Malformation syndrome
Name: Zechi-Ceide syndrome
OrphaCode: 217017
DisorderType: Malformation syndrome
Name: 17q21.31 microduplication syndrome
OrphaCode: 217340
DisorderType: Malformation syndrome
Name: 19q13.11 microdeletion syndrome
OrphaCode: 217346
DisorderType: Malformation syndrome
Name: Microduplication Xp11.22p11.23 syndrome
OrphaCode: 217377
DisorderType: Malformation syndrome
Name: 17p13.3 microduplication syndrome
OrphaCode: 217385
DisorderType: Malformation syndrome
Name: Pseudoaminopterin syndrome
OrphaCode: 221120
DisorderType: Malformation syndrome
Name: Syndromic multisystem autoimmune disease due to Itch deficiency
OrphaCode: 228426
DisorderType: Disease
Name: Kagami-Ogata syndrome
OrphaCode: 254519
DisorderType: Malformation syndrome
Children: Name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
OrphaCode: 96334
DisorderType: Etiological subtype
Name: Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
OrphaCode: 254528
DisorderType: Etiological subtype
Name: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
OrphaCode: 254534
DisorderType: Etiological subtype
Name: Kleefstra syndrome
OrphaCode: 261494
DisorderType: Malformation syndrome
Children: Name: Kleefstra syndrome due to 9q34 microdeletion
OrphaCode: 96147
DisorderType: Etiological subtype
Name: Kleefstra syndrome due to a point mutation
OrphaCode: 261652
DisorderType: Etiological subtype
Name: Multiple congenital anomalies-hypotonia-seizures syndrome
OrphaCode: 280633
DisorderType: Malformation syndrome
Name: 8q21.11 microdeletion syndrome
OrphaCode: 284160
DisorderType: Malformation syndrome
Name: Xp22.13p22.2 duplication syndrome
OrphaCode: 284180
DisorderType: Malformation syndrome
Name: Microtriplication 11q24.1
OrphaCode: 289522
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome
OrphaCode: 293642
DisorderType: Clinical group
Children: Name: SMARCA2-related blepharophimosis-intellectual disability syndrome
OrphaCode: 637013
DisorderType: Malformation syndrome
Name: Distal deletion 3p
OrphaCode: 1620
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome, Ohdo type
OrphaCode: 2728
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome, SBBYS type
OrphaCode: 3047
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome, MKB type
OrphaCode: 293707
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome, Verloes type
OrphaCode: 293725
DisorderType: Malformation syndrome
Name: 3MC syndrome
OrphaCode: 293843
DisorderType: Malformation syndrome
Name: 11p15.4 microduplication syndrome
OrphaCode: 300305
DisorderType: Malformation syndrome
Name: Multiple congenital anomalies-hypotonia-seizures syndrome type 2
OrphaCode: 300496
DisorderType: Malformation syndrome
Name: 20p13 microdeletion syndrome
OrphaCode: 313781
DisorderType: Malformation syndrome
Name: Jawad syndrome
OrphaCode: 313795
DisorderType: Malformation syndrome
Name: 7p22.1 microduplication syndrome
OrphaCode: 314034
DisorderType: Malformation syndrome
Name: Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
OrphaCode: 314575
DisorderType: Malformation syndrome
Name: 15q overgrowth syndrome
OrphaCode: 314585
DisorderType: Malformation syndrome
Children: Name: Distal duplication 15q
OrphaCode: 1707
DisorderType: Etiological subtype
Name: Distal triplication 15q
OrphaCode: 314588
DisorderType: Etiological subtype
Name: Cerebrofacioarticular syndrome
OrphaCode: 314679
DisorderType: Malformation syndrome
Name: Distal 17p13.1 microdeletion syndrome
OrphaCode: 319171
DisorderType: Malformation syndrome
Name: Wiedemann-Steiner syndrome
OrphaCode: 319182
DisorderType: Malformation syndrome
Name: Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
OrphaCode: 324416
DisorderType: Malformation syndrome
Name: Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
OrphaCode: 324540
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism
OrphaCode: 324761
DisorderType: Clinical group
Children: Name: Seckel syndrome
OrphaCode: 808
DisorderType: Malformation syndrome
Name: Ear-patella-short stature syndrome
OrphaCode: 2554
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism, Toriello type
OrphaCode: 2643
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic primordial dwarfism types I and III
OrphaCode: 2636
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic primordial dwarfism type II
OrphaCode: 2637
DisorderType: Malformation syndrome
Name: Microcephalic osteodysplastic dysplasia, Saul-Wilson type
OrphaCode: 85172
DisorderType: Disease
Name: Alazami syndrome
OrphaCode: 319671
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism, Dauber type
OrphaCode: 319675
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism due to ZNF335 deficiency
OrphaCode: 329228
DisorderType: Malformation syndrome
Name: Microcephalic cortical malformations-short stature due to RTTN deficiency
OrphaCode: 468631
DisorderType: Malformation syndrome
Name: DNMT3A-related microcephalic dwarfism
OrphaCode: 658595
DisorderType: Malformation syndrome
Name: DONSON-related microcephaly-short stature-limb abnormalities spectrum
OrphaCode: 572761
DisorderType: Malformation syndrome
Children: Name: Microcephaly-micromelia syndrome
OrphaCode: 572768
DisorderType: Clinical subtype
Name: Microcephaly-short stature-limb abnormalities syndrome
OrphaCode: 572773
DisorderType: Clinical subtype
Name: Schuurs-Hoeijmakers syndrome
OrphaCode: 329224
DisorderType: Malformation syndrome
Name: Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
OrphaCode: 329332
DisorderType: Malformation syndrome
Name: 5p13 microduplication syndrome
OrphaCode: 329802
DisorderType: Malformation syndrome
Name: Autism spectrum disorder due to AUTS2 deficiency
OrphaCode: 352490
DisorderType: Disease
Name: Bainbridge-Ropers syndrome
OrphaCode: 352577
DisorderType: Disease
Name: 19p13.13 microdeletion syndrome
OrphaCode: 357001
DisorderType: Malformation syndrome
Name: Short ulna-dysmorphism-hypotonia-intellectual disability syndrome
OrphaCode: 357175
DisorderType: Malformation syndrome
Name: THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
OrphaCode: 363444
DisorderType: Malformation syndrome
Name: CTCF-related neurodevelopmental disorder
OrphaCode: 363611
DisorderType: Disease
Name: 20q11.2 microduplication syndrome
OrphaCode: 363659
DisorderType: Malformation syndrome
Name: 2p13.2 microdeletion syndrome
OrphaCode: 363680
DisorderType: Malformation syndrome
Name: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
OrphaCode: 363686
DisorderType: Disease
Name: Craniofaciofrontodigital syndrome
OrphaCode: 363705
DisorderType: Disease
Name: Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
OrphaCode: 363741
DisorderType: Disease
Name: Shwachman-Diamond syndrome
OrphaCode: 811
DisorderType: Disease
Name: X-linked intellectual disability due to GRIA3 mutations
OrphaCode: 364028
DisorderType: Disease
Name: Intellectual disability-brachydactyly-Pierre Robin syndrome
OrphaCode: 364577
DisorderType: Malformation syndrome
Name: Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
OrphaCode: 369837
DisorderType: Malformation syndrome
Name: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
OrphaCode: 369891
DisorderType: Malformation syndrome
Name: Intellectual disability-seizures-macrocephaly-obesity syndrome
OrphaCode: 369950
DisorderType: Disease
Name: Intellectual disability-facial dysmorphism-hand anomalies syndrome
OrphaCode: 370010
DisorderType: Malformation syndrome
Name: SSR4-CDG
OrphaCode: 370927
DisorderType: Disease
Name: XYLT1-CDG
OrphaCode: 370930
DisorderType: Disease
Name: Hypotonia-speech impairment-severe cognitive delay syndrome
OrphaCode: 371364
DisorderType: Disease
Name: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
OrphaCode: 391307
DisorderType: Malformation syndrome
Name: Macrocephaly-developmental delay syndrome
OrphaCode: 397612
DisorderType: Malformation syndrome
Name: 3q27.3 microdeletion syndrome
OrphaCode: 397695
DisorderType: Disease
Name: Lissencephaly
OrphaCode: 48471
DisorderType: Category
Children: Name: Microlissencephaly
OrphaCode: 1083
DisorderType: Morphological anomaly
Children: Name: Lissencephaly syndrome, Norman-Roberts type
OrphaCode: 89844
DisorderType: Clinical subtype
Name: Cobblestone lissencephaly
OrphaCode: 51577
DisorderType: Clinical group
Children: Name: Cobblestone lissencephaly without muscular or ocular involvement
OrphaCode: 352682
DisorderType: Disease
Name: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
OrphaCode: 352687
DisorderType: Clinical group
Children: Name: Congenital muscular dystrophy, Fukuyama type
OrphaCode: 272
DisorderType: Malformation syndrome
Name: Walker-Warburg syndrome
OrphaCode: 899
DisorderType: Disease
Name: Muscle-eye-brain disease
OrphaCode: 588
DisorderType: Malformation syndrome
Name: Muscle-eye-brain disease with bilateral multicystic leucodystrophy
OrphaCode: 370997
DisorderType: Disease
Name: Lissencephaly with cerebellar hypoplasia
OrphaCode: 86823
DisorderType: Clinical group
Children: Name: Lissencephaly with cerebellar hypoplasia type A
OrphaCode: 100011
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type B
OrphaCode: 100012
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type C
OrphaCode: 100013
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type D
OrphaCode: 100014
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type E
OrphaCode: 100015
DisorderType: Malformation syndrome
Name: Lissencephaly with cerebellar hypoplasia type F
OrphaCode: 100016
DisorderType: Malformation syndrome
Name: Classic lissencephaly
OrphaCode: 102009
DisorderType: Clinical group
Children: Name: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
OrphaCode: 572013
DisorderType: Malformation syndrome
Name: Lissencephaly type 1 due to doublecortin gene mutation
OrphaCode: 2148
DisorderType: Disease
Name: Miller-Dieker syndrome
OrphaCode: 531
DisorderType: Malformation syndrome
Name: Isolated lissencephaly type 1 without known genetic defects
OrphaCode: 1084
DisorderType: Disease
Name: Lissencephaly due to LIS1 mutation
OrphaCode: 95232
DisorderType: Disease
Name: Other syndrome with lissencephaly as a major feature
OrphaCode: 102010
DisorderType: Category
Children: Name: Craniotelencephalic dysplasia
OrphaCode: 1528
DisorderType: Malformation syndrome
Name: Micro syndrome
OrphaCode: 2510
DisorderType: Malformation syndrome
Name: Baraitser-Winter cerebrofrontofacial syndrome
OrphaCode: 2995
DisorderType: Malformation syndrome
Name: X-linked lissencephaly with abnormal genitalia
OrphaCode: 452
DisorderType: Malformation syndrome
Name: Lissencephaly type 3
OrphaCode: 102011
DisorderType: Clinical group
Children: Name: Neu-Laxova syndrome
OrphaCode: 2671
DisorderType: Malformation syndrome
Children: Name: Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
OrphaCode: 583607
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
OrphaCode: 583612
DisorderType: Etiological subtype
Name: Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
OrphaCode: 583602
DisorderType: Etiological subtype
Name: Lissencephaly type 3-familial fetal akinesia sequence syndrome
OrphaCode: 86821
DisorderType: Malformation syndrome
Name: Lissencephaly type 3-metacarpal bone dysplasia syndrome
OrphaCode: 86822
DisorderType: Malformation syndrome
Name: Lissencephaly due to TUBA1A mutation
OrphaCode: 171680
DisorderType: Malformation syndrome
Name: Phelan-McDermid syndrome
OrphaCode: 48652
DisorderType: Malformation syndrome
Children: Name: Phelan-McDermid syndrome due to SHANK3 mutation
OrphaCode: 662172
DisorderType: Etiological subtype
Name: Phelan-McDermid syndrome due to 22q13.3 deletion
OrphaCode: 662169
DisorderType: Etiological subtype
Name: Microlissencephaly-micromelia syndrome
OrphaCode: 50810
DisorderType: Malformation syndrome
Name: Megalencephaly-capillary malformation-polymicrogyria syndrome
OrphaCode: 60040
DisorderType: Malformation syndrome
Name: Lipodystrophy-intellectual disability-deafness syndrome
OrphaCode: 50811
DisorderType: Disease
Name: Distal deletion 1q
OrphaCode: 36367
DisorderType: Malformation syndrome
Name: Grange syndrome
OrphaCode: 79094
DisorderType: Malformation syndrome
Name: B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 75496
DisorderType: Clinical subtype
Name: Branchiogenic deafness syndrome
OrphaCode: 50815
DisorderType: Malformation syndrome
Name: Anophthalmia/microphthalmia-esophageal atresia syndrome
OrphaCode: 77298
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-cerebellar hypoplasia syndrome
OrphaCode: 137831
DisorderType: Disease
Name: Hyperphosphatasia-intellectual disability syndrome
OrphaCode: 247262
DisorderType: Disease
Name: Intellectual disability-expressive aphasia-facial dysmorphism syndrome
OrphaCode: 436151
DisorderType: Disease
Name: Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
OrphaCode: 436245
DisorderType: Disease
Name: Symptomatic form of Coffin-Lowry syndrome in female carriers
OrphaCode: 276630
DisorderType: Malformation syndrome
Name: LIG4 syndrome
OrphaCode: 99812
DisorderType: Disease
Name: Occipital horn syndrome
OrphaCode: 198
DisorderType: Disease
Name: PHACE syndrome
OrphaCode: 42775
DisorderType: Malformation syndrome
Name: Char syndrome
OrphaCode: 46627
DisorderType: Malformation syndrome
Name: Potocki-Shaffer syndrome
OrphaCode: 52022
DisorderType: Malformation syndrome
Name: Carpenter syndrome
OrphaCode: 65759
DisorderType: Malformation syndrome
Name: Bosley-Salih-Alorainy syndrome
OrphaCode: 69737
DisorderType: Malformation syndrome
Name: King-Denborough syndrome
OrphaCode: 99741
DisorderType: Malformation syndrome
Name: Combined immunodeficiency with facio-oculo-skeletal anomalies
OrphaCode: 221139
DisorderType: Disease
Name: Dysmorphism-conductive hearing loss-heart defect syndrome
OrphaCode: 289553
DisorderType: Malformation syndrome
Name: Prader-Willi-like syndrome
OrphaCode: 398073
DisorderType: Clinical group
Children: Name: CPE-related Prader-Willi-like syndrome
OrphaCode: 633028
DisorderType: Disease
Name: 6q16 microdeletion syndrome
OrphaCode: 171829
DisorderType: Disease
Name: SIM1-related Prader-Willi-like syndrome
OrphaCode: 398079
DisorderType: Disease
Name: MAGEL2-related Prader-Willi-like syndrome
OrphaCode: 398069
DisorderType: Disease
Name: 1p31p32 microdeletion syndrome
OrphaCode: 401986
DisorderType: Malformation syndrome
Name: Malan overgrowth syndrome
OrphaCode: 420179
DisorderType: Malformation syndrome
Name: Contractures-developmental delay-Pierre Robin syndrome
OrphaCode: 436003
DisorderType: Malformation syndrome
Name: Otopalatodigital syndrome type 2
OrphaCode: 90652
DisorderType: Malformation syndrome
Name: Robinow syndrome
OrphaCode: 97360
DisorderType: Malformation syndrome
Children: Name: Autosomal recessive Robinow syndrome
OrphaCode: 1507
DisorderType: Clinical subtype
Name: Autosomal dominant Robinow syndrome
OrphaCode: 3107
DisorderType: Clinical subtype
Name: 21q22.11q22.12 microdeletion syndrome
OrphaCode: 261323
DisorderType: Malformation syndrome
Name: PYCR2-related microcephaly-progressive leukoencephalopathy
OrphaCode: 481152
DisorderType: Malformation syndrome
Name: CAMOS syndrome
OrphaCode: 83472
DisorderType: Malformation syndrome
Name: Seizures-intellectual disability due to hydroxylysinuria syndrome
OrphaCode: 79156
DisorderType: Disease
Name: Intellectual disability-spasticity-ectrodactyly syndrome
OrphaCode: 1891
DisorderType: Malformation syndrome
Name: Fryns-Smeets-Thiry syndrome
OrphaCode: 2058
DisorderType: Malformation syndrome
Name: Severe X-linked intellectual disability, Gustavson type
OrphaCode: 3078
DisorderType: Malformation syndrome
Name: Noonan syndrome-like disorder with loose anagen hair
OrphaCode: 2701
DisorderType: Malformation syndrome
Name: Crane-Heise syndrome
OrphaCode: 1512
DisorderType: Malformation syndrome
Name: Craniodigital-intellectual disability syndrome
OrphaCode: 1514
DisorderType: Malformation syndrome
Name: Cryptorchidism-arachnodactyly-intellectual disability syndrome
OrphaCode: 1548
DisorderType: Malformation syndrome
Name: Temtamy syndrome
OrphaCode: 1777
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Catania type
OrphaCode: 1786
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Rodríguez type
OrphaCode: 1788
DisorderType: Malformation syndrome
Name: Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
OrphaCode: 1825
DisorderType: Malformation syndrome
Name: Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
OrphaCode: 1970
DisorderType: Malformation syndrome
Name: Faciocardiorenal syndrome
OrphaCode: 1973
DisorderType: Malformation syndrome
Name: Acrocardiofacial syndrome
OrphaCode: 2008
DisorderType: Malformation syndrome
Name: Paraplegia-intellectual disability-hyperkeratosis syndrome
OrphaCode: 2824
DisorderType: Malformation syndrome
Name: Floating-Harbor syndrome
OrphaCode: 2044
DisorderType: Malformation syndrome
Name: Fryns syndrome
OrphaCode: 2059
DisorderType: Malformation syndrome
Name: GAPO syndrome
OrphaCode: 2067
DisorderType: Malformation syndrome
Name: Prominent glabella-microcephaly-hypogenitalism syndrome
OrphaCode: 2083
DisorderType: Malformation syndrome
Name: Hall-Riggs syndrome
OrphaCode: 2107
DisorderType: Malformation syndrome
Name: Harrod syndrome
OrphaCode: 2115
DisorderType: Malformation syndrome
Name: Hennekam syndrome
OrphaCode: 2136
DisorderType: Malformation syndrome
Name: Hernández-Aguirre Negrete syndrome
OrphaCode: 2139
DisorderType: Malformation syndrome
Name: Mowat-Wilson syndrome
OrphaCode: 2152
DisorderType: Malformation syndrome
Children: Name: Mowat-Wilson syndrome due to monosomy 2q22
OrphaCode: 261537
DisorderType: Etiological subtype
Name: Mowat-Wilson syndrome due to a ZEB2 point mutation
OrphaCode: 261552
DisorderType: Etiological subtype
Name: Holoprosencephaly-postaxial polydactyly syndrome
OrphaCode: 2166
DisorderType: Malformation syndrome
Name: Microcephaly-glomerulonephritis-marfanoid habitus syndrome
OrphaCode: 2172
DisorderType: Malformation syndrome
Name: Hypertelorism-microtia-facial clefting syndrome
OrphaCode: 2213
DisorderType: Malformation syndrome
Name: Ramos-Arroyo syndrome
OrphaCode: 1051
DisorderType: Malformation syndrome
Name: Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
OrphaCode: 2234
DisorderType: Malformation syndrome
Name: Hypospadias-intellectual disability, Goldblatt type syndrome
OrphaCode: 2261
DisorderType: Malformation syndrome
Name: Dysmorphism-short stature-deafness-difference of sex development syndrome
OrphaCode: 2282
DisorderType: Malformation syndrome
Name: Johanson-Blizzard syndrome
OrphaCode: 2315
DisorderType: Malformation syndrome
Name: Johnson neuroectodermal syndrome
OrphaCode: 2316
DisorderType: Malformation syndrome
Name: Kabuki syndrome
OrphaCode: 2322
DisorderType: Malformation syndrome
Name: Sanjad-Sakati syndrome
OrphaCode: 2323
DisorderType: Malformation syndrome
Name: Kapur-Toriello syndrome
OrphaCode: 2328
DisorderType: Malformation syndrome
Name: KBG syndrome
OrphaCode: 2332
DisorderType: Malformation syndrome
Name: Lowry-MacLean syndrome
OrphaCode: 2409
DisorderType: Malformation syndrome
Name: Macrocephaly-spastic paraplegia-dysmorphism syndrome
OrphaCode: 2429
DisorderType: Malformation syndrome
Name: Marden-Walker syndrome
OrphaCode: 2461
DisorderType: Malformation syndrome
Name: Shprintzen-Goldberg syndrome
OrphaCode: 2462
DisorderType: Malformation syndrome
Name: Marfanoid habitus-autosomal recessive intellectual disability syndrome
OrphaCode: 2463
DisorderType: Malformation syndrome
Name: McDonough syndrome
OrphaCode: 2471
DisorderType: Malformation syndrome
Name: Upper limb defect-eye and ear abnormalities syndrome
OrphaCode: 2489
DisorderType: Malformation syndrome
Name: Microbrachycephaly-ptosis-cleft lip syndrome
OrphaCode: 2511
DisorderType: Malformation syndrome
Name: Microcephaly-cardiomyopathy syndrome
OrphaCode: 2515
DisorderType: Malformation syndrome
Name: Microcephaly-cleft palate-abnormal retinal pigmentation syndrome
OrphaCode: 2521
DisorderType: Malformation syndrome
Name: Microcephaly-cervical spine fusion anomalies syndrome
OrphaCode: 2522
DisorderType: Malformation syndrome
Name: Microcephaly-microcornea syndrome, Seemanova type
OrphaCode: 2528
DisorderType: Malformation syndrome
Name: Microcephaly-deafness-intellectual disability syndrome
OrphaCode: 2533
DisorderType: Malformation syndrome
Name: Myhre syndrome
OrphaCode: 2588
DisorderType: Malformation syndrome
Name: N syndrome
OrphaCode: 2608
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism, Montreal type
OrphaCode: 2617
DisorderType: Malformation syndrome
Name: Lenz-Majewski hyperostotic dwarfism
OrphaCode: 2658
DisorderType: Malformation syndrome
Name: Neurofaciodigitorenal syndrome
OrphaCode: 2673
DisorderType: Malformation syndrome
Name: Oculocerebrofacial syndrome, Kaufman type
OrphaCode: 2707
DisorderType: Malformation syndrome
Name: Oculofaciocardiodental syndrome
OrphaCode: 2712
DisorderType: Malformation syndrome
Name: Oculo-palato-cerebral syndrome
OrphaCode: 2714
DisorderType: Malformation syndrome
Name: Lethal omphalocele-cleft palate syndrome
OrphaCode: 2736
DisorderType: Malformation syndrome
Name: Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
OrphaCode: 2743
DisorderType: Malformation syndrome
Name: W syndrome
OrphaCode: 2804
DisorderType: Malformation syndrome
Name: Short stature-webbed neck-heart disease syndrome
OrphaCode: 2865
DisorderType: Malformation syndrome
Name: Pfeiffer-Palm-Teller syndrome
OrphaCode: 2871
DisorderType: Malformation syndrome
Name: Cardiocranial syndrome, Pfeiffer type
OrphaCode: 2872
DisorderType: Malformation syndrome
Name: Oliver syndrome
OrphaCode: 2920
DisorderType: Malformation syndrome
Name: Preaxial polydactyly-colobomata-intellectual disability syndrome
OrphaCode: 2921
DisorderType: Malformation syndrome
Name: Pseudoprogeria syndrome
OrphaCode: 2985
DisorderType: Malformation syndrome
Name: Pterygium colli-intellectual disability-digital anomalies syndrome
OrphaCode: 2988
DisorderType: Malformation syndrome
Name: Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
OrphaCode: 3038
DisorderType: Malformation syndrome
Name: Intellectual disability-balding-patella luxation-acromicria syndrome
OrphaCode: 3041
DisorderType: Malformation syndrome
Name: Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
OrphaCode: 3044
DisorderType: Malformation syndrome
Name: Intellectual disability, Buenos-Aires type
OrphaCode: 3079
DisorderType: Malformation syndrome
Name: Intellectual disability, Wolff type
OrphaCode: 3080
DisorderType: Malformation syndrome
Name: Ruvalcaba syndrome
OrphaCode: 3121
DisorderType: Malformation syndrome
Name: Say-Barber-Miller syndrome
OrphaCode: 3132
DisorderType: Malformation syndrome
Name: SCARF syndrome
OrphaCode: 3134
DisorderType: Malformation syndrome
Name: Omphalocele syndrome, Shprintzen-Goldberg type
OrphaCode: 3164
DisorderType: Malformation syndrome
Name: Holoprosencephaly-radial heart renal anomalies syndrome
OrphaCode: 3186
DisorderType: Malformation syndrome
Name: Stimmler syndrome
OrphaCode: 3199
DisorderType: Malformation syndrome
Name: Fountain syndrome
OrphaCode: 3219
DisorderType: Malformation syndrome
Name: Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
OrphaCode: 3224
DisorderType: Malformation syndrome
Name: Renpenning syndrome
OrphaCode: 3242
DisorderType: Malformation syndrome
Children: Name: X-linked intellectual disability, Porteous type
OrphaCode: 93945
DisorderType: Clinical subtype
Name: Hamel cerebro-palato-cardiac syndrome
OrphaCode: 93946
DisorderType: Clinical subtype
Name: X-linked intellectual disability, Golabi-Ito-Hall type
OrphaCode: 93947
DisorderType: Clinical subtype
Name: X-linked intellectual disability, Sutherland-Haan type
OrphaCode: 93950
DisorderType: Clinical subtype
Name: Filippi syndrome
OrphaCode: 3255
DisorderType: Malformation syndrome
Name: Radioulnar synostosis-developmental delay-hypotonia syndrome
OrphaCode: 3270
DisorderType: Malformation syndrome
Name: Telecanthus-hypertelorism-strabismus-pes cavus syndrome
OrphaCode: 3293
DisorderType: Malformation syndrome
Name: Fallot complex-intellectual disability-growth delay syndrome
OrphaCode: 3304
DisorderType: Malformation syndrome
Name: Trigonocephaly-short stature-developmental delay syndrome
OrphaCode: 3369
DisorderType: Malformation syndrome
Name: Ulbright-Hodes syndrome
OrphaCode: 3404
DisorderType: Malformation syndrome
Name: Urban-Rogers-Meyer syndrome
OrphaCode: 3409
DisorderType: Malformation syndrome
Name: VACTERL with hydrocephalus
OrphaCode: 3412
DisorderType: Malformation syndrome
Name: Microcephaly-brachydactyly-kyphoscoliosis syndrome
OrphaCode: 3433
DisorderType: Malformation syndrome
Name: MMEP syndrome
OrphaCode: 3434
DisorderType: Malformation syndrome
Name: Weaver-Williams syndrome
OrphaCode: 3448
DisorderType: Malformation syndrome
Name: Wiedemann-Rautenstrauch syndrome
OrphaCode: 3455
DisorderType: Malformation syndrome
Name: Zimmermann-Laband syndrome
OrphaCode: 3473
DisorderType: Malformation syndrome
Name: Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
OrphaCode: 1277
DisorderType: Malformation syndrome
Name: Facial dysmorphism-shawl scrotum-joint laxity syndrome
OrphaCode: 1778
DisorderType: Malformation syndrome
Name: Intellectual disability-short stature-hypertelorism syndrome
OrphaCode: 3074
DisorderType: Malformation syndrome
Name: Microcephaly-seizures-intellectual disability-heart disease syndrome
OrphaCode: 2519
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-plagiocephaly syndrome
OrphaCode: 2898
DisorderType: Malformation syndrome
Name: Cleft palate-short stature-vertebral anomalies syndrome
OrphaCode: 2015
DisorderType: Malformation syndrome
Name: Macrocephaly-short stature-paraplegia syndrome
OrphaCode: 2427
DisorderType: Malformation syndrome
Name: Nicolaides-Baraitser syndrome
OrphaCode: 3051
DisorderType: Malformation syndrome
Name: Aymé-Gripp syndrome
OrphaCode: 1272
DisorderType: Malformation syndrome
Name: Arachnodactyly-abnormal ossification-intellectual disability syndrome
OrphaCode: 1129
DisorderType: Malformation syndrome
Name: Cataract-deafness-hypogonadism syndrome
OrphaCode: 1383
DisorderType: Malformation syndrome
Name: Caudal appendage-deafness syndrome
OrphaCode: 1123
DisorderType: Malformation syndrome
Name: Opitz GBBB syndrome
OrphaCode: 2745
DisorderType: Malformation syndrome
Name: Intellectual disability-polydactyly-uncombable hair syndrome
OrphaCode: 3082
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
OrphaCode: 3055
DisorderType: Malformation syndrome
Name: Hartsfield syndrome
OrphaCode: 2117
DisorderType: Malformation syndrome
Name: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
OrphaCode: 505237
DisorderType: Malformation syndrome
Name: Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
OrphaCode: 589442
DisorderType: Malformation syndrome
Name: Oculodentodigital dysplasia
OrphaCode: 2710
DisorderType: Malformation syndrome
Name: Restrictive dermopathy
OrphaCode: 1662
DisorderType: Disease
Name: Toriello-Carey syndrome
OrphaCode: 3338
DisorderType: Malformation syndrome
Name: Pancreatic agenesis-holoprosencephaly syndrome
OrphaCode: 556955
DisorderType: Disease
Name: RNF13-related severe early-onset epileptic encephalopathy
OrphaCode: 544503
DisorderType: Disease
Name: 17q24.2 microdeletion syndrome
OrphaCode: 529962
DisorderType: Malformation syndrome
Name: Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
OrphaCode: 529965
DisorderType: Malformation syndrome
Name: Gabriele-de Vries syndrome
OrphaCode: 506358
DisorderType: Malformation syndrome
Name: Craniosynostosis-microretrognathia-severe intellectual disability syndrome
OrphaCode: 565858
DisorderType: Malformation syndrome
Name: QRICH1-related intellectual disability-chondrodysplasia syndrome
OrphaCode: 580940
DisorderType: Malformation syndrome
Name: Oculoskeletodental syndrome
OrphaCode: 557003
DisorderType: Disease
Name: Congenital limbs-face contractures-hypotonia-developmental delay syndrome
OrphaCode: 562528
DisorderType: Malformation syndrome
Name: Anterior maxillary protrusion-strabismus-intellectual disability syndrome
OrphaCode: 562559
DisorderType: Malformation syndrome
Name: TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome
OrphaCode: 562569
DisorderType: Malformation syndrome
Name: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
OrphaCode: 500533
DisorderType: Disease
Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: Witteveen-Kolk syndrome
OrphaCode: 500163
DisorderType: Malformation syndrome
Children: Name: 15q24 microdeletion syndrome
OrphaCode: 94065
DisorderType: Etiological subtype
Name: SIN3-related intellectual disability syndrome due to a point mutation
OrphaCode: 500166
DisorderType: Etiological subtype
Name: Weiss-Kruszka Syndrome
OrphaCode: 502430
DisorderType: Malformation syndrome
Name: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
OrphaCode: 457193
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-short stature-overweight syndrome
OrphaCode: 457240
DisorderType: Malformation syndrome
Name: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
OrphaCode: 457485
DisorderType: Malformation syndrome
Name: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
OrphaCode: 457279
DisorderType: Malformation syndrome
Name: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
OrphaCode: 457284
DisorderType: Malformation syndrome
Name: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
OrphaCode: 457359
DisorderType: Malformation syndrome
Name: Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
OrphaCode: 457365
DisorderType: Malformation syndrome
Name: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
OrphaCode: 457395
DisorderType: Malformation syndrome
Name: Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
OrphaCode: 1236
DisorderType: Malformation syndrome
Name: Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
OrphaCode: 1964
DisorderType: Malformation syndrome
Name: Pitt-Hopkins syndrome
OrphaCode: 2896
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 5
OrphaCode: 2919
DisorderType: Malformation syndrome
Name: 4q25 proximal deletion syndrome
OrphaCode: 502437
DisorderType: Malformation syndrome
Name: STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
OrphaCode: 502434
DisorderType: Malformation syndrome
Name: Otopalatodigital syndrome type 1
OrphaCode: 90650
DisorderType: Malformation syndrome
Name: Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
OrphaCode: 505248
DisorderType: Malformation syndrome
Name: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
OrphaCode: 476126
DisorderType: Malformation syndrome
Name: Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
OrphaCode: 477993
DisorderType: Malformation syndrome
Name: PMP22-RAI1 contiguous gene duplication syndrome
OrphaCode: 477817
DisorderType: Malformation syndrome
Name: X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
OrphaCode: 480880
DisorderType: Malformation syndrome
Name: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
OrphaCode: 480898
DisorderType: Disease
Name: X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
OrphaCode: 480907
DisorderType: Malformation syndrome
Name: Polymicrogyria due to TUBB2B mutation
OrphaCode: 300573
DisorderType: Malformation syndrome
Name: Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
OrphaCode: 529665
DisorderType: Malformation syndrome
Name: DYRK1A-related intellectual disability syndrome
OrphaCode: 464306
DisorderType: Malformation syndrome
Children: Name: DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
OrphaCode: 268261
DisorderType: Etiological subtype
Name: Intellectual disability syndrome due to a DYRK1A point mutation
OrphaCode: 464311
DisorderType: Etiological subtype
Name: Basel-Vanagaite-Smirin-Yosef syndrome
OrphaCode: 464738
DisorderType: Malformation syndrome
Name: Megalocornea-intellectual disability syndrome
OrphaCode: 2479
DisorderType: Malformation syndrome
Name: Fibrodysplasia ossificans progressiva
OrphaCode: 337
DisorderType: Disease
Name: Congenital generalized lipodystrophy
OrphaCode: 528
DisorderType: Disease
Name: Joubert syndrome
OrphaCode: 475
DisorderType: Malformation syndrome
Name: Autosomal recessive primary microcephaly
OrphaCode: 2512
DisorderType: Etiological subtype
Name: Dyggve-Melchior-Clausen disease
OrphaCode: 239
DisorderType: Disease
Name: Fanconi anemia
OrphaCode: 84
DisorderType: Malformation syndrome
Name: Fraser syndrome
OrphaCode: 2052
DisorderType: Malformation syndrome
Name: X-linked alpha-thalassemia-intellectual disability syndrome
OrphaCode: 847
DisorderType: Malformation syndrome
Name: Thumb stiffness-brachydactyly-intellectual disability syndrome
OrphaCode: 1078
DisorderType: Malformation syndrome
Name: Fragile X syndrome
OrphaCode: 908
DisorderType: Malformation syndrome
Name: Williams syndrome
OrphaCode: 904
DisorderType: Malformation syndrome
Name: Rubinstein-Taybi syndrome
OrphaCode: 783
DisorderType: Malformation syndrome
Children: Name: Rubinstein-Taybi syndrome due to CREBBP mutations
OrphaCode: 353277
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
OrphaCode: 353281
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
OrphaCode: 353284
DisorderType: Etiological subtype
Name: Cornelia de Lange syndrome
OrphaCode: 199
DisorderType: Malformation syndrome
Name: Mucolipidosis type II
OrphaCode: 576
DisorderType: Disease
Name: Holoprosencephaly
OrphaCode: 2162
DisorderType: Malformation syndrome
Children: Name: Lobar holoprosencephaly
OrphaCode: 93924
DisorderType: Clinical subtype
Name: Alobar holoprosencephaly
OrphaCode: 93925
DisorderType: Clinical subtype
Name: Midline interhemispheric variant of holoprosencephaly
OrphaCode: 93926
DisorderType: Clinical subtype
Name: Semilobar holoprosencephaly
OrphaCode: 220386
DisorderType: Clinical subtype
Name: Septopreoptic holoprosencephaly
OrphaCode: 280195
DisorderType: Clinical subtype
Name: Coffin-Siris syndrome
OrphaCode: 1465
DisorderType: Malformation syndrome
Name: Smith-Magenis syndrome
OrphaCode: 819
DisorderType: Malformation syndrome
Name: Acrocallosal syndrome
OrphaCode: 36
DisorderType: Malformation syndrome
Name: Cohen syndrome
OrphaCode: 193
DisorderType: Malformation syndrome
Name: Dubowitz syndrome
OrphaCode: 235
DisorderType: Malformation syndrome
Name: Trichorhinophalangeal syndrome type 2
OrphaCode: 502
DisorderType: Malformation syndrome
Name: Laurence-Moon syndrome
OrphaCode: 2377
DisorderType: Malformation syndrome
Name: Costello syndrome
OrphaCode: 3071
DisorderType: Malformation syndrome
Name: Simpson-Golabi-Behmel syndrome
OrphaCode: 373
DisorderType: Malformation syndrome
Name: Peters plus syndrome
OrphaCode: 709
DisorderType: Malformation syndrome
Name: Lujan-Fryns syndrome
OrphaCode: 776
DisorderType: Malformation syndrome
Name: Uveal coloboma-cleft lip and palate-intellectual disability
OrphaCode: 1473
DisorderType: Malformation syndrome
Name: C syndrome
OrphaCode: 1308
DisorderType: Malformation syndrome
Name: Proximal Xq28 duplication syndrome
OrphaCode: 1762
DisorderType: Malformation syndrome
Name: Epilepsy-microcephaly-skeletal dysplasia syndrome
OrphaCode: 1948
DisorderType: Malformation syndrome
Name: Epilepsy-telangiectasia syndrome
OrphaCode: 1951
DisorderType: Disease
Name: 3C syndrome
OrphaCode: 7
DisorderType: Malformation syndrome
Name: Agnathia-holoprosencephaly-situs inversus syndrome
OrphaCode: 990
DisorderType: Malformation syndrome
Name: Aniridia-renal agenesis-psychomotor retardation syndrome
OrphaCode: 1064
DisorderType: Malformation syndrome
Name: Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
OrphaCode: 1110
DisorderType: Malformation syndrome
Name: X-linked mandibulofacial dysostosis
OrphaCode: 1131
DisorderType: Malformation syndrome
Name: Atkin-Flaitz syndrome
OrphaCode: 1193
DisorderType: Malformation syndrome
Name: Bannayan-Riley-Ruvalcaba syndrome
OrphaCode: 109
DisorderType: Malformation syndrome
Name: Blepharonasofacial malformation syndrome
OrphaCode: 1252
DisorderType: Malformation syndrome
Name: Bonnemann-Meinecke-Reich syndrome
OrphaCode: 1261
DisorderType: Malformation syndrome
Name: Borjeson-Forssman-Lehmann syndrome
OrphaCode: 127
DisorderType: Malformation syndrome
Name: Bowen-Conradi syndrome
OrphaCode: 1270
DisorderType: Malformation syndrome
Name: Lambert syndrome
OrphaCode: 1296
DisorderType: Malformation syndrome
Name: Branchioskeletogenital syndrome
OrphaCode: 1299
DisorderType: Malformation syndrome
Name: Cardiofaciocutaneous syndrome
OrphaCode: 1340
DisorderType: Malformation syndrome
Name: Congenital heart defect-round face-developmental delay syndrome
OrphaCode: 1355
DisorderType: Malformation syndrome
Name: Cataract-intellectual disability-anal atresia-urinary defects syndrome
OrphaCode: 1381
DisorderType: Malformation syndrome
Name: Cataract-intellectual disability-hypogonadism syndrome
OrphaCode: 1387
DisorderType: Malformation syndrome
Name: Catel-Manzke syndrome
OrphaCode: 1388
DisorderType: Malformation syndrome
Name: Cortical blindness-intellectual disability-polydactyly syndrome
OrphaCode: 1389
DisorderType: Malformation syndrome
Name: Cerebrofaciothoracic dysplasia
OrphaCode: 1394
DisorderType: Malformation syndrome
Name: Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
OrphaCode: 1495
DisorderType: Malformation syndrome
Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: 19p13.3 microduplication syndrome
OrphaCode: 447980
DisorderType: Malformation syndrome
Name: Ataxia-photosensitivity-short stature syndrome
OrphaCode: 1184
DisorderType: Malformation syndrome
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome plus
OrphaCode: 572333
DisorderType: Malformation syndrome
Name: SATB2-associated syndrome
OrphaCode: 576278
DisorderType: Malformation syndrome
Children: Name: SATB2-associated syndrome due to a chromosomal rearrangement
OrphaCode: 251028
DisorderType: Etiological subtype
Name: SATB2-associated syndrome due to a pathogenic variant
OrphaCode: 576283
DisorderType: Etiological subtype
Name: WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
OrphaCode: 466943
DisorderType: Malformation syndrome
Children: Name: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
OrphaCode: 284169
DisorderType: Clinical subtype
Name: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
OrphaCode: 466950
DisorderType: Clinical subtype
Name: Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
OrphaCode: 466688
DisorderType: Malformation syndrome
Name: White-Sutton syndrome
OrphaCode: 468678
DisorderType: Disease
Name: Macrocephaly-intellectual disability-left ventricular non compaction syndrome
OrphaCode: 466791
DisorderType: Malformation syndrome
Name: SLC39A8-CDG
OrphaCode: 468699
DisorderType: Disease
Name: Richieri Costa-da Silva syndrome
OrphaCode: 3101
DisorderType: Malformation syndrome
Name: Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
OrphaCode: 459074
DisorderType: Malformation syndrome
Name: Hypogonadism-mitral valve prolapse-intellectual disability syndrome
OrphaCode: 2233
DisorderType: Disease
Name: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
OrphaCode: 459070
DisorderType: Malformation syndrome
Name: Joubert syndrome with oculorenal defect
OrphaCode: 2318
DisorderType: Malformation syndrome
Name: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
OrphaCode: 459061
DisorderType: Malformation syndrome
Name: Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation
OrphaCode: 642763
DisorderType: Malformation syndrome
Name: 8q24.3 microdeletion syndrome
OrphaCode: 508488
DisorderType: Malformation syndrome
Name: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
OrphaCode: 508498
DisorderType: Malformation syndrome
Name: Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome
OrphaCode: 1321
DisorderType: Malformation syndrome
Name: Xq25 microduplication syndrome
OrphaCode: 521258
DisorderType: Malformation syndrome
Name: PLAA-associated neurodevelopmental disorder
OrphaCode: 521426
DisorderType: Malformation syndrome
Name: Camptodactyly syndrome, Guadalajara type 3
OrphaCode: 488434
DisorderType: Malformation syndrome
Name: Transketolase deficiency
OrphaCode: 488618
DisorderType: Malformation syndrome
Name: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
OrphaCode: 488627
DisorderType: Malformation syndrome
Name: TBCK-related intellectual disability syndrome
OrphaCode: 488632
DisorderType: Malformation syndrome
Name: TELO2-related intellectual disability-neurodevelopmental disorder
OrphaCode: 488642
DisorderType: Malformation syndrome
Name: Brachydactyly-short stature-retinitis pigmentosa syndrome
OrphaCode: 166035
DisorderType: Malformation syndrome
Name: Stromme syndrome
OrphaCode: 506307
DisorderType: Malformation syndrome
Name: Familial scaphocephaly syndrome, McGillivray type
OrphaCode: 168624
DisorderType: Malformation syndrome
Name: Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
OrphaCode: 500144
DisorderType: Malformation syndrome
Name: Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
OrphaCode: 500150
DisorderType: Malformation syndrome
Name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
OrphaCode: 453499
DisorderType: Malformation syndrome
Children: Name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
OrphaCode: 352665
DisorderType: Etiological subtype
Name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
OrphaCode: 453504
DisorderType: Etiological subtype
Name: 1p35.2 microdeletion syndrome
OrphaCode: 456298
DisorderType: Malformation syndrome
Name: Infantile multisystem neurologic-endocrine-pancreatic disease
OrphaCode: 456312
DisorderType: Disease
Name: Wolf-Hirschhorn syndrome
OrphaCode: 280
DisorderType: Malformation syndrome
Name: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
OrphaCode: 508533
DisorderType: Disease
Name: Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
OrphaCode: 508542
DisorderType: Disease
Name: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
OrphaCode: 513456
DisorderType: Disease
Name: RERE-related neurodevelopmental syndrome
OrphaCode: 494344
DisorderType: Malformation syndrome
Name: Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
OrphaCode: 494439
DisorderType: Malformation syndrome
Name: 16p12.1p12.3 triplication syndrome
OrphaCode: 485405
DisorderType: Malformation syndrome
Name: Takenouchi-Kosaki syndrome
OrphaCode: 487796
DisorderType: Malformation syndrome
Name: Pierpont syndrome
OrphaCode: 487825
DisorderType: Malformation syndrome
Name: Down syndrome
OrphaCode: 870
DisorderType: Malformation syndrome
Name: 9q33.3q34.11 microdeletion syndrome
OrphaCode: 495818
DisorderType: Malformation syndrome
Name: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
OrphaCode: 495875
DisorderType: Malformation syndrome
Name: Qazi-Markouizos syndrome
OrphaCode: 3010
DisorderType: Disease
Name: Microcephaly-brain defect-spasticity-hypernatremia syndrome
OrphaCode: 2523
DisorderType: Malformation syndrome
Name: Apert syndrome
OrphaCode: 87
DisorderType: Malformation syndrome
Name: Coffin-Lowry syndrome
OrphaCode: 192
DisorderType: Malformation syndrome
Name: Microphthalmia, Lenz type
OrphaCode: 568
DisorderType: Malformation syndrome
Name: Ramon syndrome
OrphaCode: 3019
DisorderType: Malformation syndrome
Name: Tall stature-intellectual disability-renal anomalies syndrome
OrphaCode: 500095
DisorderType: Malformation syndrome
Name: Vici syndrome
OrphaCode: 1493
DisorderType: Malformation syndrome
Name: Nijmegen breakage syndrome
OrphaCode: 647
DisorderType: Malformation syndrome
Name: Corpus callosum agenesis-neuronopathy syndrome
OrphaCode: 1496
DisorderType: Disease
Name: Adams-Oliver syndrome
OrphaCode: 974
DisorderType: Malformation syndrome
Name: White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
OrphaCode: 3207
DisorderType: Malformation syndrome
Name: Cooper-Jabs syndrome
OrphaCode: 1488
DisorderType: Malformation syndrome
Name: Oculocerebral hypopigmentation syndrome, Preus type
OrphaCode: 2720
DisorderType: Malformation syndrome
Name: Oculocerebral hypopigmentation syndrome, Cross type
OrphaCode: 2719
DisorderType: Malformation syndrome
Name: KAT6B-related multiple congenital anomalies syndrome
OrphaCode: 597749
DisorderType: Clinical group
Children: Name: Blepharophimosis-intellectual disability syndrome, SBBYS type
OrphaCode: 3047
DisorderType: Malformation syndrome
Name: Genitopatellar syndrome
OrphaCode: 85201
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
OrphaCode: 597746
DisorderType: Malformation syndrome
Name: CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome
OrphaCode: 599082
DisorderType: Malformation syndrome
Name: Clark-Baraitser syndrome
OrphaCode: 600731
DisorderType: Malformation syndrome
Name: Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
OrphaCode: 603448
DisorderType: Malformation syndrome
Name: Microphthalmia with linear skin defects syndrome
OrphaCode: 2556
DisorderType: Malformation syndrome
Name: Arachnodactyly-intellectual disability-dysmorphism syndrome
OrphaCode: 1130
DisorderType: Malformation syndrome
Name: Congenital intrauterine infection-like syndrome
OrphaCode: 1229
DisorderType: Malformation syndrome
Name: Richards-Rundle syndrome
OrphaCode: 1399
DisorderType: Malformation syndrome
Name: Ulna hypoplasia-intellectual disability syndrome
OrphaCode: 2249
DisorderType: Malformation syndrome
Name: Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
OrphaCode: 2278
DisorderType: Malformation syndrome
Name: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
OrphaCode: 3363
DisorderType: Malformation syndrome
Name: Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
OrphaCode: 71267
DisorderType: Malformation syndrome
Name: PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
OrphaCode: 589905
DisorderType: Disease
Name: Spondylometaphyseal dysplasia-corneal dystrophy syndrome
OrphaCode: 589435
DisorderType: Malformation syndrome
Name: KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome
OrphaCode: 603684
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
OrphaCode: 1812
DisorderType: Malformation syndrome
Name: Progressive epilepsy-intellectual disability syndrome, Finnish type
OrphaCode: 1947
DisorderType: Disease
Name: Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
OrphaCode: 2773
DisorderType: Malformation syndrome
Name: Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
OrphaCode: 3085
DisorderType: Malformation syndrome
Name: Autosomal recessive chorioretinopathy-microcephaly syndrome
OrphaCode: 2518
DisorderType: Malformation syndrome
Name: Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
OrphaCode: 1014
DisorderType: Disease
Name: Feingold syndrome
OrphaCode: 1305
DisorderType: Malformation syndrome
Children: Name: Feingold syndrome type 1
OrphaCode: 391641
DisorderType: Clinical subtype
Name: Feingold syndrome type 2
OrphaCode: 391646
DisorderType: Clinical subtype
Name: Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
OrphaCode: 352587
DisorderType: Disease
Name: Mosaic variegated aneuploidy syndrome
OrphaCode: 1052
DisorderType: Malformation syndrome
Name: Roberts syndrome
OrphaCode: 3103
DisorderType: Malformation syndrome
Name: Yunis-Varon syndrome
OrphaCode: 3472
DisorderType: Malformation syndrome
Name: Matthew-Wood syndrome
OrphaCode: 2470
DisorderType: Malformation syndrome
Name: Maternal phenylketonuria
OrphaCode: 2209
DisorderType: Malformation syndrome
Name: Otofaciocervical syndrome
OrphaCode: 2792
DisorderType: Malformation syndrome
Name: Keipert syndrome
OrphaCode: 2662
DisorderType: Malformation syndrome
Name: Ring chromosome 10 syndrome
OrphaCode: 1438
DisorderType: Malformation syndrome
Name: Gómez-López-Hernández syndrome
OrphaCode: 1532
DisorderType: Malformation syndrome
Name: Hidrotic ectodermal dysplasia, Halal type
OrphaCode: 1809
DisorderType: Malformation syndrome
Name: Hepatic fibrosis-renal cysts-intellectual disability syndrome
OrphaCode: 2031
DisorderType: Malformation syndrome
Name: Galloway-Mowat syndrome
OrphaCode: 2065
DisorderType: Malformation syndrome
Name: GMS syndrome
OrphaCode: 2090
DisorderType: Malformation syndrome
Name: Grubben-de Cock-Borghgraef syndrome
OrphaCode: 2101
DisorderType: Malformation syndrome
Name: Osteopenia-intellectual disability-sparse hair syndrome
OrphaCode: 2324
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 2
OrphaCode: 2751
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 4
OrphaCode: 2753
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Autosomal recessive distal osteolysis syndrome
OrphaCode: 2776
DisorderType: Malformation syndrome
Name: Osteoporosis-pseudoglioma syndrome
OrphaCode: 2788
DisorderType: Disease
Name: Pachygyria-intellectual disability-epilepsy syndrome
OrphaCode: 2798
DisorderType: Malformation syndrome
Name: Global developmental delay-osteopenia-ectodermal defect syndrome
OrphaCode: 73223
DisorderType: Malformation syndrome
Name: Ossification anomalies-psychomotor developmental delay syndrome
OrphaCode: 73230
DisorderType: Disease
Name: 12q14 microdeletion syndrome
OrphaCode: 94063
DisorderType: Malformation syndrome
Name: Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
OrphaCode: 2928
DisorderType: Malformation syndrome
Name: Craniofrontonasal dysplasia
OrphaCode: 1520
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Snyder type
OrphaCode: 3063
DisorderType: Disease
Name: Van den Bosch syndrome
OrphaCode: 3417
DisorderType: Malformation syndrome
Name: Wilson-Turner syndrome
OrphaCode: 3459
DisorderType: Malformation syndrome
Name: Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
OrphaCode: 171703
DisorderType: Malformation syndrome
Name: Lamb-Shaffer syndrome
OrphaCode: 530983
DisorderType: Disease
Children: Name: 12p12.1 microdeletion syndrome
OrphaCode: 313884
DisorderType: Clinical subtype
Name: Developmental and speech delay due to SOX5 deficiency
OrphaCode: 313892
DisorderType: Clinical subtype
Name: PRUNE1-related neurological syndrome
OrphaCode: 544469
DisorderType: Malformation syndrome
Name: Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
OrphaCode: 544488
DisorderType: Disease
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Aarskog-Scott syndrome
OrphaCode: 915
DisorderType: Malformation syndrome
Name: Sotos syndrome
OrphaCode: 821
DisorderType: Disease
Name: Nance-Horan syndrome
OrphaCode: 627
DisorderType: Malformation syndrome
Name: Campomelic dysplasia
OrphaCode: 140
DisorderType: Malformation syndrome
Name: Carey-Fineman-Ziter syndrome
OrphaCode: 1358
DisorderType: Malformation syndrome
Name: Distal limb deficiencies-micrognathia syndrome
OrphaCode: 1307
DisorderType: Malformation syndrome
Name: Campomelia, Cumming type
OrphaCode: 1318
DisorderType: Malformation syndrome
Name: Cantú syndrome
OrphaCode: 1517
DisorderType: Malformation syndrome
Name: Hypomandibular faciocranial dysostosis
OrphaCode: 1790
DisorderType: Malformation syndrome
Name: Frontometaphyseal dysplasia
OrphaCode: 1826
DisorderType: Disease
Name: Focal dermal hypoplasia
OrphaCode: 2092
DisorderType: Malformation syndrome
Name: Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
OrphaCode: 2180
DisorderType: Malformation syndrome
Name: Isotretinoin-like syndrome
OrphaCode: 2306
DisorderType: Malformation syndrome
Name: Marshall-Smith syndrome
OrphaCode: 561
DisorderType: Malformation syndrome
Name: Bardet-Biedl syndrome
OrphaCode: 110
DisorderType: Disease
Name: Roifman syndrome
OrphaCode: 353298
DisorderType: Disease
Name: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
OrphaCode: 589856
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 11
OrphaCode: 611247
DisorderType: Malformation syndrome
Name: Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
OrphaCode: 611207
DisorderType: Clinical syndrome
Name: Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome
OrphaCode: 598603
DisorderType: Malformation syndrome
Name: Oculogastrointestinal-neurodevelopmental syndrome
OrphaCode: 611201
DisorderType: Malformation syndrome
Name: KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome
OrphaCode: 610569
DisorderType: Disease
Name: KLHL7-related Bohring-Opitz-like syndrome
OrphaCode: 603689
DisorderType: Malformation syndrome
Name: Cockayne syndrome
OrphaCode: 191
DisorderType: Disease
Children: Name: COFS syndrome
OrphaCode: 1466
DisorderType: Clinical subtype
Name: Cockayne syndrome type 1
OrphaCode: 90321
DisorderType: Clinical subtype
Name: Cockayne syndrome type 2
OrphaCode: 90322
DisorderType: Clinical subtype
Name: Cockayne syndrome type 3
OrphaCode: 90324
DisorderType: Clinical subtype
Name: 48,XXYY syndrome
OrphaCode: 10
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
OrphaCode: 2958
DisorderType: Malformation syndrome
Name: Moebius syndrome
OrphaCode: 570
DisorderType: Disease
Name: Silver-Russell syndrome
OrphaCode: 813
DisorderType: Disease
Children: Name: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
OrphaCode: 96182
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to 7p11.2p13 microduplication
OrphaCode: 231137
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to an imprinting defect of 11p15
OrphaCode: 231140
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to 11p15 microduplication
OrphaCode: 231144
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
OrphaCode: 231147
DisorderType: Etiological subtype
Name: Silver-Russell syndrome due to a point mutation
OrphaCode: 397590
DisorderType: Etiological subtype
Name: 17p11.2 microduplication syndrome
OrphaCode: 1713
DisorderType: Malformation syndrome
Name: 2q37 microdeletion syndrome
OrphaCode: 1001
DisorderType: Malformation syndrome
Name: Alopecia-contractures-dwarfism-intellectual disability syndrome
OrphaCode: 1005
DisorderType: Malformation syndrome
Name: TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
OrphaCode: 592570
DisorderType: Malformation syndrome
Name: Menke-Hennekam syndrome
OrphaCode: 592574
DisorderType: Malformation syndrome
Name: SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
OrphaCode: 597743
DisorderType: Malformation syndrome
Name: Luscan-Lumish syndrome
OrphaCode: 597738
DisorderType: Malformation syndrome
Name: CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome
OrphaCode: 600668
DisorderType: Disease
Name: Skeletal dysplasia-epilepsy-short stature syndrome
OrphaCode: 1858
DisorderType: Malformation syndrome
Name: Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
OrphaCode: 1816
DisorderType: Malformation syndrome
Name: Hypotrichosis-intellectual disability, Lopes type
OrphaCode: 2266
DisorderType: Disease
Name: De Barsy syndrome
OrphaCode: 2962
DisorderType: Disease
Children: Name: ALDH18A1-related De Barsy syndrome
OrphaCode: 35664
DisorderType: Etiological subtype
Name: PYCR1-related De Barsy syndrome
OrphaCode: 293633
DisorderType: Etiological subtype
Name: Deafness-onychodystrophy syndrome
OrphaCode: 3231
DisorderType: Clinical group
Children: Name: Autosomal dominant deafness-onychodystrophy syndrome
OrphaCode: 79499
DisorderType: Malformation syndrome
Name: DOORS syndrome
OrphaCode: 79500
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
OrphaCode: 1568
DisorderType: Malformation syndrome
Name: X-linked intellectual disability-seizures-psoriasis syndrome
OrphaCode: 3052
DisorderType: Disease
Name: Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
OrphaCode: 457205
DisorderType: Disease
Name: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
OrphaCode: 457212
DisorderType: Disease
Name: Curry-Jones syndrome
OrphaCode: 1553
DisorderType: Malformation syndrome
Name: Short stature-wormian bones-dextrocardia syndrome
OrphaCode: 2863
DisorderType: Malformation syndrome
Name: Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
OrphaCode: 228410
DisorderType: Malformation syndrome
Children: Name: 6q25.1 microdeletion syndrome
OrphaCode: 664404
DisorderType: Etiological subtype
Name: Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation
OrphaCode: 664401
DisorderType: Etiological subtype
Name: Zellweger syndrome
OrphaCode: 912
DisorderType: Disease
Name: Acromelic frontonasal dysplasia
OrphaCode: 1827
DisorderType: Malformation syndrome
Name: Wolcott-Rallison syndrome
OrphaCode: 1667
DisorderType: Disease
Name: CODAS syndrome
OrphaCode: 1458
DisorderType: Malformation syndrome
Name: TARP syndrome
OrphaCode: 2886
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 13
OrphaCode: 613267
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 14
OrphaCode: 613274
DisorderType: Malformation syndrome
Name: Hereditary persistence of fetal hemoglobin-intellectual disability syndrome
OrphaCode: 619233
DisorderType: Disease
Name: Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome
OrphaCode: 659975
DisorderType: Malformation syndrome
Name: Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome
OrphaCode: 659904
DisorderType: Malformation syndrome
Name: Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome
OrphaCode: 660021
DisorderType: Malformation syndrome
Name: Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome
OrphaCode: 662762
DisorderType: Malformation syndrome
Name: Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome
OrphaCode: 662175
DisorderType: Malformation syndrome
Name: Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome
OrphaCode: 662179
DisorderType: Malformation syndrome
Name: Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome
OrphaCode: 675775
DisorderType: Disease
Name: Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN
OrphaCode: 675782
DisorderType: Disease
Name: Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome
OrphaCode: 664410
DisorderType: Malformation syndrome
Children: Name: 5q14.3 microdeletion syndrome
OrphaCode: 228384
DisorderType: Etiological subtype
Name: Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation
OrphaCode: 664416
DisorderType: Etiological subtype
Name: Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome
OrphaCode: 664438
DisorderType: Malformation syndrome
Name: Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome
OrphaCode: 664430
DisorderType: Malformation syndrome
Name: Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome
OrphaCode: 664923
DisorderType: Disease
Name: Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome
OrphaCode: 662829
DisorderType: Disease
Name: CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome
OrphaCode: 646278
DisorderType: Disease
Name: KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome
OrphaCode: 633004
DisorderType: Disease
Name: Intellectual disability-early-onset cataract-microcephaly syndrome
OrphaCode: 633035
DisorderType: Malformation syndrome
Name: Mesomelic dysplasia-digital anomalies-intellectual disability syndrome
OrphaCode: 632603
DisorderType: Malformation syndrome
Name: CHD8 overgrowth syndrome
OrphaCode: 642675
DisorderType: Disease
Name: Cleft palate-congenital heart defect-intellectual disability syndrome
OrphaCode: 652519
DisorderType: Disease
Children: Name: Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation
OrphaCode: 652514
DisorderType: Clinical subtype
Name: Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
OrphaCode: 261190
DisorderType: Clinical subtype
Name: CHD4-related neurodevelopmental disorder
OrphaCode: 653712
DisorderType: Disease
Name: Jansen-de Vries syndrome
OrphaCode: 653767
DisorderType: Disease
Name: Intellectual disability-cupped ears syndrome
OrphaCode: 656135
DisorderType: Disease
Name: PBX1-related congenital anomalies of kidney and urinary tract syndrome
OrphaCode: 656130
DisorderType: Disease
Name: 16q22 deletion syndrome
OrphaCode: 658540
DisorderType: Disease
Name: Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome
OrphaCode: 658843
DisorderType: Disease
Name: Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome
OrphaCode: 659702
DisorderType: Malformation syndrome
Name: Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome
OrphaCode: 662189
DisorderType: Malformation syndrome
Name: Neurodevelopmental delay-intellectual disability-skeletal defects syndrome
OrphaCode: 662198
DisorderType: Malformation syndrome
Name: Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome
OrphaCode: 662207
DisorderType: Malformation syndrome
Name: Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome
OrphaCode: 662234
DisorderType: Malformation syndrome
Name: PRC-2 complex-related overgrowth spectrum
OrphaCode: 659387
DisorderType: Clinical group
Children: Name: Cohen-Gibson syndrome
OrphaCode: 659396
DisorderType: Malformation syndrome
Name: Weaver syndrome
OrphaCode: 3447
DisorderType: Malformation syndrome
Name: Imagawa-Matsumoto syndrome
OrphaCode: 659463
DisorderType: Malformation syndrome
Name: Rauch-Steindl syndrome
OrphaCode: 659642
DisorderType: Clinical subtype
Name: Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome
OrphaCode: 659609
DisorderType: Disease
Name: Acrodysostosis
OrphaCode: 950
DisorderType: Malformation syndrome
Name: Difference of sex development-intellectual disability syndrome
OrphaCode: 2983
DisorderType: Disease
Name: Aniridia-ptosis-intellectual disability-familial obesity syndrome
OrphaCode: 1067
DisorderType: Malformation syndrome
Name: Aniridia-intellectual disability syndrome
OrphaCode: 1068
DisorderType: Malformation syndrome
Name: Contractures-ectodermal dysplasia-cleft lip/palate syndrome
OrphaCode: 1484
DisorderType: Malformation syndrome
Name: Nodular neuronal heterotopia
OrphaCode: 2149
DisorderType: Morphological anomaly
Children: Name: Periventricular nodular heterotopia
OrphaCode: 98892
DisorderType: Clinical subtype
Name: Sub-cortical nodular heterotopia
OrphaCode: 101029
DisorderType: Clinical subtype
Name: Subependymal nodular heterotopia
OrphaCode: 101030
DisorderType: Clinical subtype
Name: Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
OrphaCode: 3042
DisorderType: Malformation syndrome
Name: Spinocerebellar degeneration-corneal dystrophy syndrome
OrphaCode: 3177
DisorderType: Malformation syndrome
Name: X-linked skeletal dysplasia-intellectual disability syndrome
OrphaCode: 1436
DisorderType: Malformation syndrome
Name: Keratosis follicularis-dwarfism-cerebral atrophy syndrome
OrphaCode: 2339
DisorderType: Malformation syndrome
Name: Intellectual disability-developmental delay-contractures syndrome
OrphaCode: 3454
DisorderType: Malformation syndrome
Name: 22q11.2 deletion syndrome
OrphaCode: 567
DisorderType: Malformation syndrome
Name: Prader-Willi syndrome
OrphaCode: 739
DisorderType: Disease
Children: Name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
OrphaCode: 98754
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal 15q11q13 deletion
OrphaCode: 98793
DisorderType: Etiological subtype
Children: Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
OrphaCode: 177901
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
OrphaCode: 177904
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to translocation
OrphaCode: 177907
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to imprinting mutation
OrphaCode: 177910
DisorderType: Etiological subtype
Name: Ablepharon macrostomia syndrome
OrphaCode: 920
DisorderType: Malformation syndrome
Name: Hypoglossia-hypodactyly syndrome
OrphaCode: 989
DisorderType: Malformation syndrome
Name: Autosomal dominant popliteal pterygium syndrome
OrphaCode: 1300
DisorderType: Malformation syndrome
Name: Joubert syndrome with hepatic defect
OrphaCode: 1454
DisorderType: Disease
Name: Ulnar-mammary syndrome
OrphaCode: 3138
DisorderType: Malformation syndrome
Name: SHORT syndrome
OrphaCode: 3163
DisorderType: Malformation syndrome
Name: Microgastria-limb reduction defect syndrome
OrphaCode: 2538
DisorderType: Malformation syndrome
Name: Kallmann syndrome-heart disease syndrome
OrphaCode: 2326
DisorderType: Malformation syndrome
Name: Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
OrphaCode: 2502
DisorderType: Malformation syndrome
Name: Severe oculo-renal-cerebellar syndrome
OrphaCode: 2715
DisorderType: Malformation syndrome
Name: Hennekam-Beemer syndrome
OrphaCode: 2135
DisorderType: Malformation syndrome
Name: Microphthalmia with limb anomalies
OrphaCode: 1106
DisorderType: Malformation syndrome
Name: Antley-Bixler syndrome
OrphaCode: 83
DisorderType: Malformation syndrome
Children: Name: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
OrphaCode: 63269
DisorderType: Clinical subtype
Name: Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis
OrphaCode: 596008
DisorderType: Clinical subtype
Name: Brachymorphism-onychodysplasia-dysphalangism syndrome
OrphaCode: 1292
DisorderType: Malformation syndrome
Name: Cerebrocostomandibular syndrome
OrphaCode: 1393
DisorderType: Malformation syndrome
Name: Hallermann-Streiff syndrome
OrphaCode: 2108
DisorderType: Malformation syndrome
Name: Hallermann-Streiff-like syndrome
OrphaCode: 2109
DisorderType: Malformation syndrome
Name: Donnai-Barrow syndrome
OrphaCode: 2143
DisorderType: Malformation syndrome
Name: Pallister-Hall syndrome
OrphaCode: 672
DisorderType: Malformation syndrome
Name: Autosomal dominant primary microcephaly
OrphaCode: 2514
DisorderType: Etiological subtype
Name: Mietens syndrome
OrphaCode: 2557
DisorderType: Malformation syndrome
Name: Schinzel-Giedion syndrome
OrphaCode: 798
DisorderType: Malformation syndrome
Name: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
OrphaCode: 102285
DisorderType: Category
Children: Name: Split hand-split foot-deafness syndrome
OrphaCode: 71271
DisorderType: Malformation syndrome
Name: Nasopalpebral lipoma-coloboma syndrome
OrphaCode: 2399
DisorderType: Malformation syndrome
Name: Dislocation of the hip-dysmorphism syndrome
OrphaCode: 2412
DisorderType: Malformation syndrome
Name: Czeizel-Losonci syndrome
OrphaCode: 2437
DisorderType: Malformation syndrome
Name: Hand-foot-genital syndrome
OrphaCode: 2438
DisorderType: Malformation syndrome
Name: Mandibuloacral dysplasia
OrphaCode: 2457
DisorderType: Malformation syndrome
Children: Name: Mandibuloacral dysplasia with type A lipodystrophy
OrphaCode: 90153
DisorderType: Clinical subtype
Name: Mandibuloacral dysplasia with type B lipodystrophy
OrphaCode: 90154
DisorderType: Clinical subtype
Name: Matthew-Wood syndrome
OrphaCode: 2470
DisorderType: Malformation syndrome
Name: McKusick-Kaufman syndrome
OrphaCode: 2473
DisorderType: Malformation syndrome
Name: White forelock with malformations
OrphaCode: 2475
DisorderType: Malformation syndrome
Name: Melnick-Needles syndrome
OrphaCode: 2484
DisorderType: Malformation syndrome
Name: Müllerian duct anomalies-limb anomalies syndrome
OrphaCode: 2491
DisorderType: Malformation syndrome
Name: Microcephaly-albinism-digital anomalies syndrome
OrphaCode: 2513
DisorderType: Malformation syndrome
Name: Microcephaly-cardiac defect-lung malsegmentation syndrome
OrphaCode: 2516
DisorderType: Malformation syndrome
Name: Oculoauriculovertebral spectrum with radial defects
OrphaCode: 2549
DisorderType: Malformation syndrome
Name: Pyramidal molars-abnormal upper lip syndrome
OrphaCode: 2561
DisorderType: Malformation syndrome
Name: 3M syndrome
OrphaCode: 2616
DisorderType: Malformation syndrome
Name: Mesomelic dwarfism-cleft palate-camptodactyly syndrome
OrphaCode: 2631
DisorderType: Malformation syndrome
Name: Keipert syndrome
OrphaCode: 2662
DisorderType: Malformation syndrome
Name: Nephrosis-deafness-urinary tract-digital malformations syndrome
OrphaCode: 2669
DisorderType: Malformation syndrome
Name: Cyprus facial-neuromusculoskeletal syndrome
OrphaCode: 2674
DisorderType: Malformation syndrome
Name: Median nodule of the upper lip
OrphaCode: 2699
DisorderType: Malformation syndrome
Name: PARC syndrome
OrphaCode: 2825
DisorderType: Malformation syndrome
Name: Short tarsus-absence of lower eyelashes syndrome
OrphaCode: 2832
DisorderType: Malformation syndrome
Name: Short stature-valvular heart disease-characteristic facies syndrome
OrphaCode: 2868
DisorderType: Malformation syndrome
Name: PHAVER syndrome
OrphaCode: 2876
DisorderType: Malformation syndrome
Name: Polysyndactyly-cardiac malformation syndrome
OrphaCode: 2934
DisorderType: Malformation syndrome
Name: Autosomal dominant prognathism
OrphaCode: 2964
DisorderType: Malformation syndrome
Name: Autosomal recessive multiple pterygium syndrome
OrphaCode: 2990
DisorderType: Malformation syndrome
Name: RAPADILINO syndrome
OrphaCode: 3021
DisorderType: Malformation syndrome
Name: Richieri Costa-Pereira syndrome
OrphaCode: 3102
DisorderType: Malformation syndrome
Name: Nijmegen breakage syndrome
OrphaCode: 647
DisorderType: Malformation syndrome
Name: Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
OrphaCode: 3201
DisorderType: Malformation syndrome
Name: Deafness-craniofacial syndrome
OrphaCode: 3241
DisorderType: Malformation syndrome
Name: Tetraamelia-multiple malformations syndrome
OrphaCode: 3301
DisorderType: Malformation syndrome
Name: Thomas syndrome
OrphaCode: 3316
DisorderType: Malformation syndrome
Name: Thymic-renal-anal-lung dysplasia
OrphaCode: 3326
DisorderType: Malformation syndrome
Name: Absent tibia-polydactyly-arachnoid cyst syndrome
OrphaCode: 3328
DisorderType: Malformation syndrome
Name: Trigonocephaly-bifid nose-acral anomalies syndrome
OrphaCode: 3368
DisorderType: Malformation syndrome
Name: Van den Ende-Gupta syndrome
OrphaCode: 2460
DisorderType: Malformation syndrome
Name: Velo-facial-skeletal syndrome
OrphaCode: 3424
DisorderType: Malformation syndrome
Name: Verloove Vanhorick-Brubakk syndrome
OrphaCode: 3429
DisorderType: Malformation syndrome
Name: Weill-Marchesani syndrome
OrphaCode: 3449
DisorderType: Malformation syndrome
Name: Progressive non-infectious anterior vertebral fusion
OrphaCode: 2062
DisorderType: Malformation syndrome
Name: Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
OrphaCode: 1101
DisorderType: Malformation syndrome
Name: Von Voss-Cherstvoy syndrome
OrphaCode: 3439
DisorderType: Malformation syndrome
Name: Axenfeld-Rieger syndrome
OrphaCode: 782
DisorderType: Malformation syndrome
Name: Craniolenticulosutural dysplasia
OrphaCode: 50814
DisorderType: Malformation syndrome
Name: Braddock syndrome
OrphaCode: 52047
DisorderType: Malformation syndrome
Name: Branchiootic syndrome
OrphaCode: 52429
DisorderType: Malformation syndrome
Name: Müllerian derivatives-lymphangiectasia-polydactyly syndrome
OrphaCode: 1655
DisorderType: Malformation syndrome
Name: Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
OrphaCode: 77300
DisorderType: Malformation syndrome
Name: Grange syndrome
OrphaCode: 79094
DisorderType: Malformation syndrome
Name: Developmental malformations-deafness-dystonia syndrome
OrphaCode: 79107
DisorderType: Malformation syndrome
Name: Macrostomia-preauricular tags-external ophthalmoplegia syndrome
OrphaCode: 83619
DisorderType: Malformation syndrome
Name: LUMBAR syndrome
OrphaCode: 83628
DisorderType: Malformation syndrome
Name: 49,XYYYY syndrome
OrphaCode: 99330
DisorderType: Malformation syndrome
Name: Lethal congenital contracture syndrome type 2
OrphaCode: 137776
DisorderType: Malformation syndrome
Name: Lethal congenital contracture syndrome type 3
OrphaCode: 137783
DisorderType: Malformation syndrome
Name: Syndactyly-telecanthus-anogenital and renal malformations syndrome
OrphaCode: 140952
DisorderType: Malformation syndrome
Name: Autosomal dominant otospondylomegaepiphyseal dysplasia
OrphaCode: 166100
DisorderType: Malformation syndrome
Name: 8q22.1 microdeletion syndrome
OrphaCode: 178303
DisorderType: Malformation syndrome
Name: Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
OrphaCode: 217026
DisorderType: Malformation syndrome
Name: BNAR syndrome
OrphaCode: 217266
DisorderType: Malformation syndrome
Name: Nijmegen breakage syndrome-like disorder
OrphaCode: 240760
DisorderType: Malformation syndrome
Name: 14q22q23 microdeletion syndrome
OrphaCode: 264200
DisorderType: Malformation syndrome
Name: Warsaw breakage syndrome
OrphaCode: 280558
DisorderType: Malformation syndrome
Name: Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
OrphaCode: 314002
DisorderType: Malformation syndrome
Name: Greig cephalopolysyndactyly syndrome
OrphaCode: 380
DisorderType: Malformation syndrome
Name: Leprechaunism
OrphaCode: 508
DisorderType: Malformation syndrome
Name: Townes-Brocks syndrome
OrphaCode: 857
DisorderType: Malformation syndrome
Name: BOR syndrome
OrphaCode: 107
DisorderType: Malformation syndrome
Name: Alagille syndrome
OrphaCode: 52
DisorderType: Malformation syndrome
Children: Name: Alagille syndrome due to 20p12 microdeletion
OrphaCode: 261600
DisorderType: Etiological subtype
Name: Alagille syndrome due to a JAG1 point mutation
OrphaCode: 261619
DisorderType: Etiological subtype
Name: Alagille syndrome due to a NOTCH2 point mutation
OrphaCode: 261629
DisorderType: Etiological subtype
Name: Treacher-Collins syndrome
OrphaCode: 861
DisorderType: Malformation syndrome
Name: Nager syndrome
OrphaCode: 245
DisorderType: Malformation syndrome
Name: Arrhinia-choanal atresia-microphthalmia syndrome
OrphaCode: 1135
DisorderType: Malformation syndrome
Name: Distal arthrogryposis type 1
OrphaCode: 1146
DisorderType: Malformation syndrome
Name: Charlie M syndrome
OrphaCode: 1406
DisorderType: Malformation syndrome
Name: Postaxial acrofacial dysostosis
OrphaCode: 246
DisorderType: Malformation syndrome
Name: Freeman-Sheldon syndrome
OrphaCode: 2053
DisorderType: Malformation syndrome
Name: Marshall syndrome
OrphaCode: 560
DisorderType: Malformation syndrome
Name: VACTERL/VATER association
OrphaCode: 887
DisorderType: Malformation syndrome
Name: Fanconi anemia
OrphaCode: 84
DisorderType: Malformation syndrome
Name: Waardenburg syndrome
OrphaCode: 3440
DisorderType: Disease
Children: Name: Waardenburg syndrome type 1
OrphaCode: 894
DisorderType: Clinical subtype
Name: Waardenburg syndrome type 2
OrphaCode: 895
DisorderType: Clinical subtype
Name: Waardenburg syndrome type 3
OrphaCode: 896
DisorderType: Clinical subtype
Name: Van der Woude syndrome
OrphaCode: 888
DisorderType: Malformation syndrome
Name: Cherubism
OrphaCode: 184
DisorderType: Malformation syndrome
Name: Holt-Oram syndrome
OrphaCode: 392
DisorderType: Malformation syndrome
Name: Noonan syndrome with multiple lentigines
OrphaCode: 500
DisorderType: Malformation syndrome
Name: Fraser syndrome
OrphaCode: 2052
DisorderType: Malformation syndrome
Name: Heart defects-limb shortening syndrome
OrphaCode: 1354
DisorderType: Malformation syndrome
Name: Aase-Smith syndrome
OrphaCode: 916
DisorderType: Malformation syndrome
Name: Abruzzo-Erickson syndrome
OrphaCode: 921
DisorderType: Malformation syndrome
Name: Acrocraniofacial dysostosis
OrphaCode: 949
DisorderType: Malformation syndrome
Name: Acrofacial dysostosis, Weyers type
OrphaCode: 952
DisorderType: Malformation syndrome
Name: Acro-renal-mandibular syndrome
OrphaCode: 958
DisorderType: Malformation syndrome
Name: Acro-renal-ocular syndrome
OrphaCode: 959
DisorderType: Malformation syndrome
Name: Acrorenal syndrome
OrphaCode: 971
DisorderType: Malformation syndrome
Name: PAGOD syndrome
OrphaCode: 991
DisorderType: Malformation syndrome
Name: Fetal akinesia deformation sequence
OrphaCode: 994
DisorderType: Malformation syndrome
Name: Anonychia-microcephaly syndrome
OrphaCode: 1094
DisorderType: Malformation syndrome
Name: Anophthalmia plus syndrome
OrphaCode: 1104
DisorderType: Malformation syndrome
Name: Burn-McKeown syndrome
OrphaCode: 1200
DisorderType: Malformation syndrome
Name: Barber-Say syndrome
OrphaCode: 1231
DisorderType: Malformation syndrome
Name: Beemer-Ertbruggen syndrome
OrphaCode: 1237
DisorderType: Malformation syndrome
Name: Bencze syndrome
OrphaCode: 1241
DisorderType: Malformation syndrome
Name: Maxillonasal dysplasia
OrphaCode: 1248
DisorderType: Malformation syndrome
Name: Ascher syndrome
OrphaCode: 1253
DisorderType: Malformation syndrome
Name: Brachytelephalangy-dysmorphism-Kallmann syndrome
OrphaCode: 1295
DisorderType: Malformation syndrome
Name: Branchio-oculo-facial syndrome
OrphaCode: 1297
DisorderType: Malformation syndrome
Name: Camptodactyly syndrome, Guadalajara type 2
OrphaCode: 1326
DisorderType: Malformation syndrome
Name: Camptodactyly syndrome, Guadalajara type 1
OrphaCode: 1327
DisorderType: Malformation syndrome
Name: Pentalogy of Cantrell
OrphaCode: 1335
DisorderType: Malformation syndrome
Name: Heart defect-tongue hamartoma-polysyndactyly syndrome
OrphaCode: 1338
DisorderType: Malformation syndrome
Name: Heart-hand syndrome type 3
OrphaCode: 1342
DisorderType: Malformation syndrome
Name: Heart-hand syndrome type 2
OrphaCode: 1350
DisorderType: Malformation syndrome
Name: Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
OrphaCode: 1352
DisorderType: Malformation syndrome
Name: Cataract-aberrant oral frenula-growth delay syndrome
OrphaCode: 1373
DisorderType: Malformation syndrome
Name: Night blindness-skeletal anomalies-dysmorphism syndrome
OrphaCode: 1390
DisorderType: Malformation syndrome
Name: CODAS syndrome
OrphaCode: 1458
DisorderType: Malformation syndrome
Name: Lethal congenital contracture syndrome type 1
OrphaCode: 1486
DisorderType: Malformation syndrome
Name: Vici syndrome
OrphaCode: 1493
DisorderType: Malformation syndrome
Name: SPECC1L-related hypertelorism syndrome
OrphaCode: 1519
DisorderType: Malformation syndrome
Name: Craniofacial-deafness-hand syndrome
OrphaCode: 1529
DisorderType: Malformation syndrome
Name: Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
OrphaCode: 1547
DisorderType: Malformation syndrome
Name: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
OrphaCode: 1555
DisorderType: Malformation syndrome
Name: Dahlberg-Borer-Newcomer syndrome
OrphaCode: 1563
DisorderType: Malformation syndrome
Name: Autosomal recessive faciodigitogenital syndrome
OrphaCode: 1974
DisorderType: Malformation syndrome
Name: Femoral-facial syndrome
OrphaCode: 1988
DisorderType: Malformation syndrome
Name: Cleft lip-retinopathy syndrome
OrphaCode: 1995
DisorderType: Malformation syndrome
Name: Blepharo-cheilo-odontic syndrome
OrphaCode: 1997
DisorderType: Malformation syndrome
Name: Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
OrphaCode: 2001
DisorderType: Malformation syndrome
Name: Alar cartilages hypoplasia-coloboma-telecanthus syndrome
OrphaCode: 2007
DisorderType: Malformation syndrome
Name: Cleft palate-lateral synechia syndrome
OrphaCode: 2016
DisorderType: Malformation syndrome
Name: Gingival fibromatosis-facial dysmorphism syndrome
OrphaCode: 2025
DisorderType: Malformation syndrome
Name: Scalp-ear-nipple syndrome
OrphaCode: 2036
DisorderType: Malformation syndrome
Name: Cole-Carpenter syndrome
OrphaCode: 2050
DisorderType: Malformation syndrome
Name: Frontofacionasal dysplasia
OrphaCode: 1791
DisorderType: Malformation syndrome
Name: Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
OrphaCode: 2057
DisorderType: Malformation syndrome
Name: Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
OrphaCode: 2064
DisorderType: Malformation syndrome
Name: Genitopalatocardiac syndrome
OrphaCode: 2075
DisorderType: Malformation syndrome
Name: Multinodular goiter-cystic kidney-polydactyly syndrome
OrphaCode: 2091
DisorderType: Malformation syndrome
Name: Gordon syndrome
OrphaCode: 376
DisorderType: Malformation syndrome
Name: Gorlin-Chaudhry-Moss syndrome
OrphaCode: 2095
DisorderType: Malformation syndrome
Name: Short stature-craniofacial anomalies-genital hypoplasia syndrome
OrphaCode: 2994
DisorderType: Malformation syndrome
Name: Diaphragmatic defect-limb deficiency-skull defect syndrome
OrphaCode: 2141
DisorderType: Malformation syndrome
Name: Hirschsprung disease-type D brachydactyly syndrome
OrphaCode: 2150
DisorderType: Malformation syndrome
Name: Hirschsprung disease-deafness-polydactyly syndrome
OrphaCode: 2155
DisorderType: Malformation syndrome
Name: Holzgreve syndrome
OrphaCode: 2167
DisorderType: Malformation syndrome
Name: Hydrocephaly-tall stature-joint laxity syndrome
OrphaCode: 2181
DisorderType: Malformation syndrome
Name: Hypertelorism-hypospadias-polysyndactyly syndrome
OrphaCode: 2211
DisorderType: Malformation syndrome
Name: Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
OrphaCode: 2252
DisorderType: Malformation syndrome
Name: Fibulo-ulnar hypoplasia-renal anomalies syndrome
OrphaCode: 2256
DisorderType: Malformation syndrome
Name: CHILD syndrome
OrphaCode: 139
DisorderType: Disease
Name: Ichthyosis-oral and digital anomalies syndrome
OrphaCode: 2272
DisorderType: Malformation syndrome
Name: Juberg-Hayward syndrome
OrphaCode: 2319
DisorderType: Malformation syndrome
Name: Schilbach-Rott syndrome
OrphaCode: 2353
DisorderType: Malformation syndrome
Name: Lacrimoauriculodentodigital syndrome
OrphaCode: 2363
DisorderType: Malformation syndrome
Name: Split-foot malformation-mesoaxial polydactyly syndrome
OrphaCode: 488232
DisorderType: Malformation syndrome
Name: Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
OrphaCode: 2703
DisorderType: Malformation syndrome
Name: Oculotrichoanal syndrome
OrphaCode: 2717
DisorderType: Malformation syndrome
Name: Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
OrphaCode: 496693
DisorderType: Malformation syndrome
Name: Camptodactyly-joint contractures-facial skeletal defects syndrome
OrphaCode: 1323
DisorderType: Malformation syndrome
Name: Oculo-auriculo-vertebral spectrum
OrphaCode: 141132
DisorderType: Malformation syndrome
Name: Dysmorphism-pectus carinatum-joint laxity syndrome
OrphaCode: 2104
DisorderType: Malformation syndrome
Name: Pectus excavatum-macrocephaly-dysplastic nails syndrome
OrphaCode: 2835
DisorderType: Malformation syndrome
Name: Flat face-microstomia-ear anomaly syndrome
OrphaCode: 1968
DisorderType: Malformation syndrome
Name: Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
OrphaCode: 1969
DisorderType: Malformation syndrome
Name: Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
OrphaCode: 397623
DisorderType: Malformation syndrome
Name: External auditory canal atresia-vertical talus-hypertelorism syndrome
OrphaCode: 3023
DisorderType: Malformation syndrome
Name: Otoonychoperoneal syndrome
OrphaCode: 2793
DisorderType: Malformation syndrome
Name: EVEN-plus syndrome
OrphaCode: 496751
DisorderType: Malformation syndrome
Name: Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
OrphaCode: 508476
DisorderType: Malformation syndrome
Name: Wormian bones-micrognathia-abnormal dentition-progeroid syndrome
OrphaCode: 659873
DisorderType: Malformation syndrome
Name: Greig cephalopolysyndactyly-contiguous gene syndrome
OrphaCode: 658805
DisorderType: Malformation syndrome
Name: Cardiac-urogenital syndrome
OrphaCode: 647811
DisorderType: Disease
Name: B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
OrphaCode: 567502
DisorderType: Disease
Name: Congenital vertebral-cardiac-renal anomalies syndrome
OrphaCode: 521438
DisorderType: Malformation syndrome
Name: Subaortic stenosis-short stature syndrome
OrphaCode: 3191
DisorderType: Malformation syndrome
Name: Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome
OrphaCode: 643503
DisorderType: Disease
Name: Congenital limb malformation
OrphaCode: 68378
DisorderType: Category
Children: Name: Syndrome with limb malformations as a major feature
OrphaCode: 109009
DisorderType: Category
Children: Name: Camptodactyly-taurinuria syndrome
OrphaCode: 1325
DisorderType: Malformation syndrome
Name: Emery-Nelson syndrome
OrphaCode: 1927
DisorderType: Malformation syndrome
Name: Thumb deformity-alopecia-pigmentation anomaly syndrome
OrphaCode: 2251
DisorderType: Malformation syndrome
Name: Extensor tendons of finger anomalies
OrphaCode: 3294
DisorderType: Malformation syndrome
Name: Dysostosis with brachydactyly
OrphaCode: 69028
DisorderType: Category
Children: Name: Dysostosis with brachydactyly without extraskeletal manifestations
OrphaCode: 498451
DisorderType: Category
Children: Name: Symbrachydactyly of hands and feet
OrphaCode: 1570
DisorderType: Malformation syndrome
Name: Preaxial digit brachydactyly-webbed fingers
OrphaCode: 633211
DisorderType: Malformation syndrome
Name: Brachydactyly type A2
OrphaCode: 93396
DisorderType: Malformation syndrome
Name: Brachydactyly type A4
OrphaCode: 93394
DisorderType: Malformation syndrome
Name: Brachydactyly type A6
OrphaCode: 93382
DisorderType: Malformation syndrome
Name: Brachydactyly type A7
OrphaCode: 93397
DisorderType: Malformation syndrome
Name: Sugarman brachydactyly
OrphaCode: 498602
DisorderType: Morphological anomaly
Name: Mononen-Karnes-Senac syndrome
OrphaCode: 2565
DisorderType: Malformation syndrome
Name: Familial digital arthropathy-brachydactyly
OrphaCode: 85169
DisorderType: Malformation syndrome
Name: Brachydactyly-elbow wrist dysplasia syndrome
OrphaCode: 1275
DisorderType: Malformation syndrome
Name: Brachydactyly type A1
OrphaCode: 93388
DisorderType: Malformation syndrome
Name: Brachydactyly type B
OrphaCode: 93383
DisorderType: Malformation syndrome
Children: Name: Brachydactyly type B2
OrphaCode: 140908
DisorderType: Clinical subtype
Name: Brachydactyly type B1
OrphaCode: 572385
DisorderType: Clinical subtype
Name: Brachydactyly type C
OrphaCode: 93384
DisorderType: Malformation syndrome
Name: Brachydactyly type E
OrphaCode: 93387
DisorderType: Malformation syndrome
Name: Cooks syndrome
OrphaCode: 1487
DisorderType: Malformation syndrome
Name: Camptobrachydactyly
OrphaCode: 1319
DisorderType: Malformation syndrome
Name: Dysostosis with brachydactyly with extraskeletal manifestations
OrphaCode: 498454
DisorderType: Category
Children: Name: Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
OrphaCode: 589608
DisorderType: Disease
Name: Brachydactyly-short stature-retinitis pigmentosa syndrome
OrphaCode: 166035
DisorderType: Malformation syndrome
Name: 2q37 microdeletion syndrome
OrphaCode: 1001
DisorderType: Malformation syndrome
Name: Hyperphosphatasia-intellectual disability syndrome
OrphaCode: 247262
DisorderType: Disease
Name: Brachydactyly-arterial hypertension syndrome
OrphaCode: 1276
DisorderType: Malformation syndrome
Name: Temtamy preaxial brachydactyly syndrome
OrphaCode: 363417
DisorderType: Malformation syndrome
Name: Coffin-Siris syndrome
OrphaCode: 1465
DisorderType: Malformation syndrome
Name: Microcephaly-brachydactyly-kyphoscoliosis syndrome
OrphaCode: 3433
DisorderType: Malformation syndrome
Name: Thumb stiffness-brachydactyly-intellectual disability syndrome
OrphaCode: 1078
DisorderType: Malformation syndrome
Name: Brachydactyly-preaxial hallux varus syndrome
OrphaCode: 1278
DisorderType: Malformation syndrome
Name: Acrodysplasia scoliosis
OrphaCode: 2956
DisorderType: Malformation syndrome
Name: Brachymorphism-onychodysplasia-dysphalangism syndrome
OrphaCode: 1292
DisorderType: Malformation syndrome
Name: Skeletal dysplasia-epilepsy-short stature syndrome
OrphaCode: 1858
DisorderType: Malformation syndrome
Name: Brachydactyly-long thumb syndrome
OrphaCode: 2946
DisorderType: Malformation syndrome
Name: Ulnar/fibula ray defect-brachydactyly syndrome
OrphaCode: 52056
DisorderType: Malformation syndrome
Name: Feingold syndrome
OrphaCode: 1305
DisorderType: Malformation syndrome
Children: Name: Feingold syndrome type 1
OrphaCode: 391641
DisorderType: Clinical subtype
Name: Feingold syndrome type 2
OrphaCode: 391646
DisorderType: Clinical subtype
Name: Hand-foot-genital syndrome
OrphaCode: 2438
DisorderType: Malformation syndrome
Name: Brachytelephalangy-dysmorphism-Kallmann syndrome
OrphaCode: 1295
DisorderType: Malformation syndrome
Name: Poland syndrome
OrphaCode: 2911
DisorderType: Malformation syndrome
Name: Rubinstein-Taybi syndrome
OrphaCode: 783
DisorderType: Malformation syndrome
Children: Name: Rubinstein-Taybi syndrome due to CREBBP mutations
OrphaCode: 353277
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
OrphaCode: 353281
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
OrphaCode: 353284
DisorderType: Etiological subtype
Name: Adams-Oliver syndrome
OrphaCode: 974
DisorderType: Malformation syndrome
Name: Syndrome with synostosis or other joint formation defect
OrphaCode: 93459
DisorderType: Category
Children: Name: B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
OrphaCode: 75496
DisorderType: Clinical subtype
Name: Banki syndrome
OrphaCode: 1228
DisorderType: Malformation syndrome
Name: Brachydactyly-elbow wrist dysplasia syndrome
OrphaCode: 1275
DisorderType: Malformation syndrome
Name: Tarsal-carpal coalition syndrome
OrphaCode: 1412
DisorderType: Malformation syndrome
Name: OSLAM syndrome
OrphaCode: 2760
DisorderType: Malformation syndrome
Name: Leri pleonosteosis
OrphaCode: 2900
DisorderType: Malformation syndrome
Name: Multiple synostoses syndrome
OrphaCode: 3237
DisorderType: Malformation syndrome
Name: Symphalangism with multiple anomalies of hands and feet
OrphaCode: 3246
DisorderType: Malformation syndrome
Name: Proximal symphalangism
OrphaCode: 3250
DisorderType: Malformation syndrome
Name: Radioulnar synostosis-microcephaly-scoliosis syndrome
OrphaCode: 3268
DisorderType: Malformation syndrome
Name: Radioulnar synostosis-developmental delay-hypotonia syndrome
OrphaCode: 3270
DisorderType: Malformation syndrome
Name: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
OrphaCode: 71289
DisorderType: Malformation syndrome
Name: WT limb-blood syndrome
OrphaCode: 3466
DisorderType: Disease
Name: Arthrogryposis syndrome
OrphaCode: 109007
DisorderType: Category
Children: Name: Distal arthrogryposis
OrphaCode: 97120
DisorderType: Clinical group
Children: Name: Arthrogryposis-ectodermal dysplasia syndrome
OrphaCode: 3200
DisorderType: Malformation syndrome
Name: Congenital limbs-face contractures-hypotonia-developmental delay syndrome
OrphaCode: 562528
DisorderType: Malformation syndrome
Name: Autosomal dominant multiple pterygium syndrome
OrphaCode: 65743
DisorderType: Malformation syndrome
Name: Pelvic dysplasia-arthrogryposis of lower limbs syndrome
OrphaCode: 2840
DisorderType: Malformation syndrome
Name: Distal arthrogryposis type 1
OrphaCode: 1146
DisorderType: Malformation syndrome
Name: Sheldon-Hall syndrome
OrphaCode: 1147
DisorderType: Malformation syndrome
Name: Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
OrphaCode: 1154
DisorderType: Malformation syndrome
Name: Freeman-Sheldon syndrome
OrphaCode: 2053
DisorderType: Malformation syndrome
Name: Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
OrphaCode: 1144
DisorderType: Malformation syndrome
Name: Congenital contractural arachnodactyly
OrphaCode: 115
DisorderType: Malformation syndrome
Name: Gordon syndrome
OrphaCode: 376
DisorderType: Malformation syndrome
Name: Trismus-pseudocamptodactyly syndrome
OrphaCode: 3377
DisorderType: Malformation syndrome
Name: Musculocontractural Ehlers-Danlos syndrome
OrphaCode: 2953
DisorderType: Disease
Name: Arthrogryposis-severe scoliosis syndrome
OrphaCode: 65720
DisorderType: Malformation syndrome
Name: Distal arthrogryposis type 10
OrphaCode: 251515
DisorderType: Malformation syndrome
Name: Distal arthrogryposis type 5D
OrphaCode: 329457
DisorderType: Disease
Name: Autism spectrum disorder-epilepsy-arthrogryposis syndrome
OrphaCode: 370943
DisorderType: Disease
Name: Multiple pterygium syndrome
OrphaCode: 294060
DisorderType: Clinical group
Children: Name: Autosomal recessive multiple pterygium syndrome
OrphaCode: 2990
DisorderType: Malformation syndrome
Name: Lethal multiple pterygium syndrome
OrphaCode: 33108
DisorderType: Malformation syndrome
Name: Autosomal dominant multiple pterygium syndrome
OrphaCode: 65743
DisorderType: Malformation syndrome
Name: X-linked lethal multiple pterygium syndrome
OrphaCode: 79447
DisorderType: Malformation syndrome
Name: Popliteal pterygium syndrome
OrphaCode: 294963
DisorderType: Clinical group
Children: Name: Bartsocas-Papas syndrome
OrphaCode: 1234
DisorderType: Malformation syndrome
Name: Autosomal dominant popliteal pterygium syndrome
OrphaCode: 1300
DisorderType: Malformation syndrome
Name: Lethal congenital contracture syndrome
OrphaCode: 294965
DisorderType: Clinical group
Children: Name: Lethal congenital contracture syndrome type 1
OrphaCode: 1486
DisorderType: Malformation syndrome
Name: Lethal congenital contracture syndrome type 2
OrphaCode: 137776
DisorderType: Malformation syndrome
Name: Lethal congenital contracture syndrome type 3
OrphaCode: 137783
DisorderType: Malformation syndrome
Name: German syndrome
OrphaCode: 2077
DisorderType: Malformation syndrome
Name: Congenital amyoplasia
OrphaCode: 488586
DisorderType: Malformation syndrome
Name: Arthrogryposis multiplex congenita
OrphaCode: 1037
DisorderType: Clinical group
Children: Name: Microphthalmia-microtia-fetal akinesia syndrome
OrphaCode: 2547
DisorderType: Malformation syndrome
Name: Neurogenic arthrogryposis multiplex congenita
OrphaCode: 1143
DisorderType: Disease
Name: Infantile-onset X-linked spinal muscular atrophy
OrphaCode: 1145
DisorderType: Disease
Name: Kuskokwim syndrome
OrphaCode: 1149
DisorderType: Malformation syndrome
Name: Arthrogryposis multiplex congenita-whistling face syndrome
OrphaCode: 1150
DisorderType: Malformation syndrome
Name: Multiple pterygium-malignant hyperthermia syndrome
OrphaCode: 2215
DisorderType: Malformation syndrome
Name: Marden-Walker syndrome
OrphaCode: 2461
DisorderType: Malformation syndrome
Name: Arthrogryposis-renal dysfunction-cholestasis syndrome
OrphaCode: 2697
DisorderType: Malformation syndrome
Name: Adducted thumbs-arthrogryposis syndrome, Christian type
OrphaCode: 2952
DisorderType: Malformation syndrome
Name: Van den Ende-Gupta syndrome
OrphaCode: 2460
DisorderType: Malformation syndrome
Name: Intellectual disability-developmental delay-contractures syndrome
OrphaCode: 3454
DisorderType: Malformation syndrome
Name: Arthrogryposis-hyperkeratosis syndrome, lethal form
OrphaCode: 1485
DisorderType: Malformation syndrome
Name: Hypomyelination neuropathy-arthrogryposis syndrome
OrphaCode: 2680
DisorderType: Malformation syndrome
Name: Arthrogryposis-anterior horn cell disease syndrome
OrphaCode: 53696
DisorderType: Malformation syndrome
Name: Autosomal recessive myogenic arthrogryposis multiplex congenita
OrphaCode: 319332
DisorderType: Disease
Name: Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
OrphaCode: 439897
DisorderType: Malformation syndrome
Name: Congenital lethal myopathy, Compton-North type
OrphaCode: 210163
DisorderType: Disease
Name: Fetal akinesia deformation sequence
OrphaCode: 994
DisorderType: Malformation syndrome
Name: Pontocerebellar hypoplasia type 12
OrphaCode: 611256
DisorderType: Malformation syndrome
Name: MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
OrphaCode: 498693
DisorderType: Disease
Name: KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome
OrphaCode: 610569
DisorderType: Disease
Name: Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome
OrphaCode: 664923
DisorderType: Disease
Name: Prenatal-onset spinal muscular atrophy with congenital bone fractures
OrphaCode: 486811
DisorderType: Disease
Name: Familial clubfoot with or without associated lower limb anomalies
OrphaCode: 199315
DisorderType: Malformation syndrome
Children: Name: Familial clubfoot due to 17q23.1q23.2 microduplication
OrphaCode: 238578
DisorderType: Etiological subtype
Name: Familial clubfoot due to 5q31 microdeletion
OrphaCode: 293144
DisorderType: Etiological subtype
Name: Familial clubfoot due to PITX1 point mutation
OrphaCode: 293150
DisorderType: Etiological subtype
Name: Heart-hand syndrome
OrphaCode: 228184
DisorderType: Category
Children: Name: Holt-Oram syndrome
OrphaCode: 392
DisorderType: Malformation syndrome
Name: Heart-hand syndrome type 3
OrphaCode: 1342
DisorderType: Malformation syndrome
Name: Heart-hand syndrome type 2
OrphaCode: 1350
DisorderType: Malformation syndrome
Name: Brachydactyly-long thumb syndrome
OrphaCode: 2946
DisorderType: Malformation syndrome
Name: Heart-hand syndrome, Slovenian type
OrphaCode: 168796
DisorderType: Malformation syndrome
Name: Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
OrphaCode: 228190
DisorderType: Malformation syndrome
Name: Carney complex-trismus-pseudocamptodactyly syndrome
OrphaCode: 319340
DisorderType: Disease
Name: Syndrome with limb reduction defects
OrphaCode: 294955
DisorderType: Category
Children: Name: Split-foot malformation-mesoaxial polydactyly syndrome
OrphaCode: 488232
DisorderType: Malformation syndrome
Name: Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
OrphaCode: 496693
DisorderType: Malformation syndrome
Name: Heart defects-limb shortening syndrome
OrphaCode: 1354
DisorderType: Malformation syndrome
Name: Thrombocytopenia-absent radius syndrome
OrphaCode: 3320
DisorderType: Malformation syndrome
Name: Fanconi anemia
OrphaCode: 84
DisorderType: Malformation syndrome
Name: Roberts syndrome
OrphaCode: 3103
DisorderType: Malformation syndrome
Name: Adams-Oliver syndrome
OrphaCode: 974
DisorderType: Malformation syndrome
Name: ADULT syndrome
OrphaCode: 978
DisorderType: Malformation syndrome
Name: Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
OrphaCode: 988
DisorderType: Malformation syndrome
Name: Hypoglossia-hypodactyly syndrome
OrphaCode: 989
DisorderType: Malformation syndrome
Name: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
OrphaCode: 1071
DisorderType: Malformation syndrome
Children: Name: Ankyloblepharon filiforme adnatum-cleft palate syndrome
OrphaCode: 1072
DisorderType: Clinical subtype
Name: Ankyloblepharon filiforme adnatum-imperforate anus syndrome
OrphaCode: 1074
DisorderType: Clinical subtype
Name: Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
OrphaCode: 1112
DisorderType: Malformation syndrome
Name: Aphalangy-syndactyly-microcephaly syndrome
OrphaCode: 1113
DisorderType: Malformation syndrome
Name: Lethal faciocardiomelic dysplasia
OrphaCode: 1972
DisorderType: Malformation syndrome
Name: Gollop-Wolfgang complex
OrphaCode: 1986
DisorderType: Malformation syndrome
Name: Femoral-facial syndrome
OrphaCode: 1988
DisorderType: Malformation syndrome
Name: Splenogonadal fusion-limb defects-micrognathia syndrome
OrphaCode: 2063
DisorderType: Malformation syndrome
Name: Ulna hypoplasia-intellectual disability syndrome
OrphaCode: 2249
DisorderType: Malformation syndrome
Name: IVIC syndrome
OrphaCode: 2307
DisorderType: Malformation syndrome
Name: Absence deformity of leg-cataract syndrome
OrphaCode: 2310
DisorderType: Malformation syndrome
Name: Karsch-Neugebauer syndrome
OrphaCode: 2329
DisorderType: Malformation syndrome
Name: Holt-Oram syndrome
OrphaCode: 392
DisorderType: Malformation syndrome
Name: Tetramelic monodactyly
OrphaCode: 2564
DisorderType: Malformation syndrome
Name: Fibular aplasia-complex brachydactyly syndrome
OrphaCode: 2639
DisorderType: Malformation syndrome
Name: Postaxial tetramelic oligodactyly
OrphaCode: 2730
DisorderType: Malformation syndrome
Name: Pelvis-shoulder dysplasia
OrphaCode: 2839
DisorderType: Malformation syndrome
Name: Fuhrmann syndrome
OrphaCode: 2854
DisorderType: Malformation syndrome
Name: Phocomelia, Schinzel type
OrphaCode: 2879
DisorderType: Malformation syndrome
Name: Radio-renal syndrome
OrphaCode: 3015
DisorderType: Malformation syndrome
Name: Absent radius-anogenital anomalies syndrome
OrphaCode: 3016
DisorderType: Malformation syndrome
Name: RAPADILINO syndrome
OrphaCode: 3021
DisorderType: Malformation syndrome
Name: Ulnar-mammary syndrome
OrphaCode: 3138
DisorderType: Malformation syndrome
Name: Tetraamelia-multiple malformations syndrome
OrphaCode: 3301
DisorderType: Malformation syndrome
Name: Thalidomide embryopathy
OrphaCode: 3312
DisorderType: Malformation syndrome
Name: Absent tibia-polydactyly-arachnoid cyst syndrome
OrphaCode: 3328
DisorderType: Malformation syndrome
Name: Tibial aplasia-ectrodactyly syndrome
OrphaCode: 3329
DisorderType: Malformation syndrome
Name: Humerus trochlea aplasia
OrphaCode: 3383
DisorderType: Malformation syndrome
Name: Split hand-split foot-deafness syndrome
OrphaCode: 71271
DisorderType: Malformation syndrome
Name: Okihiro syndrome
OrphaCode: 93293
DisorderType: Malformation syndrome
Children: Name: Okihiro syndrome due to 20q13 microdeletion
OrphaCode: 261638
DisorderType: Etiological subtype
Name: Okihiro syndrome due to a point mutation
OrphaCode: 261647
DisorderType: Etiological subtype
Name: Pelviscapular dysplasia
OrphaCode: 93333
DisorderType: Malformation syndrome
Name: Mammary-digital-nail syndrome
OrphaCode: 238744
DisorderType: Malformation syndrome
Name: Thrombocythemia with distal limb defects
OrphaCode: 329319
DisorderType: Disease
Name: Cornelia de Lange syndrome
OrphaCode: 199
DisorderType: Malformation syndrome
Name: Intellectual disability-spasticity-ectrodactyly syndrome
OrphaCode: 1891
DisorderType: Malformation syndrome
Name: FATCO syndrome
OrphaCode: 2492
DisorderType: Malformation syndrome
Name: Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
OrphaCode: 508542
DisorderType: Disease
Name: Combined immunodeficiency with facio-oculo-skeletal anomalies
OrphaCode: 221139
DisorderType: Disease
Name: Camptodactyly syndrome, Guadalajara type 2
OrphaCode: 1326
DisorderType: Malformation syndrome
Name: Dysostosis with combined reduction defects of upper and lower limbs
OrphaCode: 294957
DisorderType: Category
Children: Name: Autosomal recessive amelia
OrphaCode: 1027
DisorderType: Malformation syndrome
Name: Fibular aplasia-ectrodactyly syndrome
OrphaCode: 1118
DisorderType: Malformation syndrome
Name: Radial deficiency-tibial hypoplasia syndrome
OrphaCode: 1121
DisorderType: Malformation syndrome
Name: Ulnar hypoplasia-split foot syndrome
OrphaCode: 1122
DisorderType: Malformation syndrome
Name: Gollop-Wolfgang complex
OrphaCode: 1986
DisorderType: Malformation syndrome
Name: Femur-fibula-ulna complex
OrphaCode: 2019
DisorderType: Malformation syndrome
Name: Tibial aplasia-ectrodactyly syndrome
OrphaCode: 3329
DisorderType: Malformation syndrome
Name: Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
OrphaCode: 294959
DisorderType: Category
Children: Name: Greig cephalopolysyndactyly-contiguous gene syndrome
OrphaCode: 658805
DisorderType: Malformation syndrome
Name: B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
OrphaCode: 567502
DisorderType: Disease
Name: Acropectoral syndrome
OrphaCode: 85203
DisorderType: Malformation syndrome
Name: Brachydactyly-syndactyly, Zhao type
OrphaCode: 93409
DisorderType: Malformation syndrome
Name: Syndactyly-telecanthus-anogenital and renal malformations syndrome
OrphaCode: 140952
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome
OrphaCode: 140997
DisorderType: Clinical group
Children: Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 2
OrphaCode: 2751
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 4
OrphaCode: 2753
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 8
OrphaCode: 2755
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 5
OrphaCode: 2919
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 11
OrphaCode: 141000
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 9
OrphaCode: 141007
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 14
OrphaCode: 434179
DisorderType: Malformation syndrome
Name: Oral-facial-digital syndrome with short stature and brachymesophalangy
OrphaCode: 508501
DisorderType: Malformation syndrome
Name: Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome
OrphaCode: 357332
DisorderType: Malformation syndrome
Name: Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
OrphaCode: 369979
DisorderType: Malformation syndrome
Name: Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
OrphaCode: 420584
DisorderType: Malformation syndrome
Name: Townes-Brocks syndrome
OrphaCode: 857
DisorderType: Malformation syndrome
Name: Meckel syndrome
OrphaCode: 564
DisorderType: Malformation syndrome
Name: Acrocallosal syndrome
OrphaCode: 36
DisorderType: Malformation syndrome
Name: Acropectorovertebral dysplasia
OrphaCode: 957
DisorderType: Malformation syndrome
Name: Scalp defects-postaxial polydactyly syndrome
OrphaCode: 1003
DisorderType: Malformation syndrome
Name: Aphalangy-syndactyly-microcephaly syndrome
OrphaCode: 1113
DisorderType: Malformation syndrome
Name: Catel-Manzke syndrome
OrphaCode: 1388
DisorderType: Malformation syndrome
Name: Craniosynostosis, Philadelphia type
OrphaCode: 1527
DisorderType: Malformation syndrome
Name: Dandy-Walker malformation-postaxial polydactyly syndrome
OrphaCode: 1566
DisorderType: Malformation syndrome
Name: Fibular dimelia-diplopodia syndrome
OrphaCode: 1757
DisorderType: Malformation syndrome
Name: Ectrodactyly-polydactyly syndrome
OrphaCode: 1892
DisorderType: Malformation syndrome
Name: Gollop-Wolfgang complex
OrphaCode: 1986
DisorderType: Malformation syndrome
Name: Greig cephalopolysyndactyly syndrome
OrphaCode: 380
DisorderType: Malformation syndrome
Name: Hallux varus-preaxial polysyndactyly syndrome
OrphaCode: 2110
DisorderType: Malformation syndrome
Name: Pallister-Hall syndrome
OrphaCode: 672
DisorderType: Malformation syndrome
Name: Lacrimoauriculodentodigital syndrome
OrphaCode: 2363
DisorderType: Malformation syndrome
Name: Laurin-Sandrow syndrome
OrphaCode: 2378
DisorderType: Malformation syndrome
Name: Fuhrmann syndrome
OrphaCode: 2854
DisorderType: Malformation syndrome
Name: Polydactyly-myopia syndrome
OrphaCode: 2917
DisorderType: Malformation syndrome
Name: Oliver syndrome
OrphaCode: 2920
DisorderType: Malformation syndrome
Name: Crossed polysyndactyly
OrphaCode: 2935
DisorderType: Malformation syndrome
Name: Triphalangeal thumbs-brachyectrodactyly syndrome
OrphaCode: 2947
DisorderType: Malformation syndrome
Name: Guttmacher syndrome
OrphaCode: 2957
DisorderType: Malformation syndrome
Name: Mirror polydactyly-vertebral segmentation-limbs defects syndrome
OrphaCode: 3004
DisorderType: Malformation syndrome
Name: Sillence syndrome
OrphaCode: 3168
DisorderType: Malformation syndrome
Name: Eyebrow duplication-syndactyly syndrome
OrphaCode: 3172
DisorderType: Malformation syndrome
Name: Symphalangism with multiple anomalies of hands and feet
OrphaCode: 3246
DisorderType: Malformation syndrome
Name: Filippi syndrome
OrphaCode: 3255
DisorderType: Malformation syndrome
Name: Cenani-Lenz syndrome
OrphaCode: 3258
DisorderType: Malformation syndrome
Name: Absent tibia-polydactyly-arachnoid cyst syndrome
OrphaCode: 3328
DisorderType: Malformation syndrome
Name: Syndactyly-polydactyly-ear lobe syndrome
OrphaCode: 3259
DisorderType: Malformation syndrome
Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: Split hand-split foot-deafness syndrome
OrphaCode: 71271
DisorderType: Malformation syndrome
Name: FATCO syndrome
OrphaCode: 2492
DisorderType: Malformation syndrome
Name: Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
OrphaCode: 476119
DisorderType: Malformation syndrome
Name: Split-foot malformation-mesoaxial polydactyly syndrome
OrphaCode: 488232
DisorderType: Malformation syndrome
Name: Caudal regression-sirenomelia spectrum
OrphaCode: 444941
DisorderType: Clinical group
Children: Name: Sirenomelia
OrphaCode: 3169
DisorderType: Malformation syndrome
Name: Caudal regression syndrome
OrphaCode: 3027
DisorderType: Malformation syndrome
Name: Familial caudal dysgenesis
OrphaCode: 1768
DisorderType: Malformation syndrome
Name: Fetal encasement syndrome
OrphaCode: 465824
DisorderType: Malformation syndrome
Name: TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
OrphaCode: 592570
DisorderType: Malformation syndrome
Name: Non-syndromic limb malformation
OrphaCode: 109011
DisorderType: Category
Children: Name: Isolated patella aplasia/hypoplasia
OrphaCode: 86789
DisorderType: Morphological anomaly
Name: Non-syndromic limb reduction defect
OrphaCode: 93457
DisorderType: Category
Children: Name: Non-syndromic longitudinal limb defect
OrphaCode: 498457
DisorderType: Category
Children: Name: Non-syndromic hemimelia
OrphaCode: 2130
DisorderType: Clinical group
Children: Name: Isolated ulnar hemimelia
OrphaCode: 93320
DisorderType: Morphological anomaly
Name: Isolated radial hemimelia
OrphaCode: 93321
DisorderType: Morphological anomaly
Name: Isolated tibial hemimelia
OrphaCode: 93322
DisorderType: Morphological anomaly
Name: Isolated fibular hemimelia
OrphaCode: 93323
DisorderType: Morphological anomaly
Name: Isolated hypoplasia of thumb
OrphaCode: 294988
DisorderType: Morphological anomaly
Name: Non-syndromic terminal transverse limb defect
OrphaCode: 498461
DisorderType: Category
Children: Name: Non-syndromic amelia
OrphaCode: 294925
DisorderType: Clinical group
Children: Name: Isolated amelia of upper limb
OrphaCode: 294967
DisorderType: Morphological anomaly
Name: Isolated amelia of lower limb
OrphaCode: 294969
DisorderType: Morphological anomaly
Name: Isolated tetra-amelia
OrphaCode: 294971
DisorderType: Morphological anomaly
Name: Isolated absence/hypoplasia of fingers excluding thumb, unilateral
OrphaCode: 973
DisorderType: Morphological anomaly
Name: Amniotic band syndrome
OrphaCode: 295000
DisorderType: Malformation syndrome
Name: Non-syndromic complete hemimelia
OrphaCode: 498491
DisorderType: Category
Children: Name: Isolated absence of both lower leg and foot
OrphaCode: 294981
DisorderType: Morphological anomaly
Name: Isolated absence of both forearm and hand
OrphaCode: 294979
DisorderType: Morphological anomaly
Name: Isolated acheiria
OrphaCode: 294983
DisorderType: Morphological anomaly
Name: Isolated apodia
OrphaCode: 294986
DisorderType: Morphological anomaly
Name: Isolated acheiropodia
OrphaCode: 931
DisorderType: Morphological anomaly
Name: Non-syndromic intercalary limb defects
OrphaCode: 294927
DisorderType: Clinical group
Children: Name: Isolated humeral agenesis/hypoplasia
OrphaCode: 294973
DisorderType: Morphological anomaly
Name: Isolated absence of upper arm and forearm with hand present
OrphaCode: 294975
DisorderType: Morphological anomaly
Name: Isolated absence of thigh and lower leg with foot present
OrphaCode: 294977
DisorderType: Morphological anomaly
Name: Isolated femoral agenesis/hypoplasia
OrphaCode: 1987
DisorderType: Morphological anomaly
Name: Isolated proximal femoral focal deficiency
OrphaCode: 633228
DisorderType: Morphological anomaly
Name: Isolated congenital femoral bifurcation
OrphaCode: 667589
DisorderType: Morphological anomaly
Name: Non-syndromic polydactyly, syndactyly and/or hyperphalangy
OrphaCode: 93458
DisorderType: Category
Children: Name: Non-syndromic polydactyly
OrphaCode: 2913
DisorderType: Category
Children: Name: Non-syndromic preaxial polydactyly
OrphaCode: 498464
DisorderType: Category
Children: Name: Polydactyly of a triphalangeal thumb
OrphaCode: 93336
DisorderType: Morphological anomaly
Name: Polydactyly of an index finger
OrphaCode: 93337
DisorderType: Morphological anomaly
Name: Polysyndactyly
OrphaCode: 93338
DisorderType: Morphological anomaly
Name: Polydactyly of a biphalangeal thumb and/or hallux
OrphaCode: 93339
DisorderType: Morphological anomaly
Name: Non-syndromic postaxial polydactyly
OrphaCode: 498467
DisorderType: Category
Children: Name: Postaxial polydactyly type A
OrphaCode: 93334
DisorderType: Morphological anomaly
Name: Postaxial polydactyly type B
OrphaCode: 93335
DisorderType: Morphological anomaly
Name: Non-syndromic complex polydactyly
OrphaCode: 498470
DisorderType: Category
Children: Name: Central polydactyly
OrphaCode: 295004
DisorderType: Morphological anomaly
Name: Mirror-image polydactyly
OrphaCode: 498494
DisorderType: Morphological anomaly
Name: Non-syndromic syndactyly
OrphaCode: 90025
DisorderType: Category
Children: Name: Syndactyly type 8
OrphaCode: 2498
DisorderType: Morphological anomaly
Name: Syndactyly type 1
OrphaCode: 93402
DisorderType: Morphological anomaly
Children: Name: Zygodactyly type 1
OrphaCode: 295187
DisorderType: Clinical subtype
Name: Zygodactyly type 2
OrphaCode: 295189
DisorderType: Clinical subtype
Name: Zygodactyly type 3
OrphaCode: 295191
DisorderType: Clinical subtype
Name: Zygodactyly type 4
OrphaCode: 295193
DisorderType: Clinical subtype
Name: Syndactyly type 2
OrphaCode: 93403
DisorderType: Morphological anomaly
Children: Name: Synpolydactyly type 1
OrphaCode: 295195
DisorderType: Clinical subtype
Name: Synpolydactyly type 2
OrphaCode: 295197
DisorderType: Clinical subtype
Name: Synpolydactyly type 3
OrphaCode: 295199
DisorderType: Clinical subtype
Name: Syndactyly type 3
OrphaCode: 93404
DisorderType: Morphological anomaly
Name: Syndactyly type 4
OrphaCode: 93405
DisorderType: Morphological anomaly
Name: Syndactyly type 5
OrphaCode: 93406
DisorderType: Morphological anomaly
Name: Mesoaxial synostotic syndactyly with phalangeal reduction
OrphaCode: 157801
DisorderType: Morphological anomaly
Name: Syndactyly type 6
OrphaCode: 295012
DisorderType: Morphological anomaly
Name: Isolated hyperphalangy
OrphaCode: 295002
DisorderType: Morphological anomaly
Name: Isolated pseudoarthrosis of the limbs
OrphaCode: 157808
DisorderType: Morphological anomaly
Children: Name: Congenital pseudoarthrosis of the tibia
OrphaCode: 295018
DisorderType: Clinical subtype
Name: Congenital pseudoarthrosis of the femur
OrphaCode: 295020
DisorderType: Clinical subtype
Name: Congenital pseudoarthrosis of the fibula
OrphaCode: 295022
DisorderType: Clinical subtype
Name: Congenital pseudoarthrosis of the radius
OrphaCode: 295024
DisorderType: Clinical subtype
Name: Congenital pseudoarthrosis of the ulna
OrphaCode: 295026
DisorderType: Clinical subtype
Name: Congenital deformities of limbs
OrphaCode: 294944
DisorderType: Category
Children: Name: Congenital vertical talus
OrphaCode: 178382
DisorderType: Morphological anomaly
Children: Name: Congenital vertical talus, unilateral
OrphaCode: 295201
DisorderType: Clinical subtype
Name: Congenital vertical talus, bilateral
OrphaCode: 295203
DisorderType: Clinical subtype
Name: Congenital deformities of fingers
OrphaCode: 294947
DisorderType: Category
Children: Name: Familial isolated clinodactyly of fingers
OrphaCode: 295014
DisorderType: Morphological anomaly
Name: Camptodactyly of fingers
OrphaCode: 295016
DisorderType: Morphological anomaly
Name: Non-syndromic joint formation defects
OrphaCode: 294949
DisorderType: Category
Children: Name: Isolated distal symphalangism
OrphaCode: 3248
DisorderType: Morphological anomaly
Name: Isolated humero-radial synostosis
OrphaCode: 3265
DisorderType: Morphological anomaly
Name: Isolated humero-radio-ulnar synostosis
OrphaCode: 3266
DisorderType: Morphological anomaly
Name: Isolated radio-ulnar synostosis
OrphaCode: 3269
DisorderType: Morphological anomaly
Name: Isolated humero-ulnar synostosis
OrphaCode: 94056
DisorderType: Morphological anomaly
Name: Isolated tibio-fibular synostosis
OrphaCode: 295028
DisorderType: Morphological anomaly
Name: Congenital joint dislocations
OrphaCode: 294951
DisorderType: Category
Children: Name: True congenital shoulder dislocation
OrphaCode: 295030
DisorderType: Morphological anomaly
Name: Isolated congenital radial head dislocation
OrphaCode: 295032
DisorderType: Morphological anomaly
Children: Name: Congenital elbow dislocation, unilateral
OrphaCode: 295225
DisorderType: Clinical subtype
Name: Congenital elbow dislocation, bilateral
OrphaCode: 295227
DisorderType: Clinical subtype
Name: Congenital knee dislocation
OrphaCode: 295034
DisorderType: Morphological anomaly
Children: Name: Congenital genu recurvatum
OrphaCode: 295229
DisorderType: Clinical subtype
Name: Congenital genu flexum
OrphaCode: 295232
DisorderType: Clinical subtype
Name: Congenital patella dislocation
OrphaCode: 295036
DisorderType: Morphological anomaly
Name: Non-syndromic limb overgrowth
OrphaCode: 294953
DisorderType: Category
Children: Name: Macrodactyly of fingers
OrphaCode: 295044
DisorderType: Morphological anomaly
Children: Name: Macrodactyly of fingers, unilateral
OrphaCode: 295239
DisorderType: Clinical subtype
Name: Macrodactyly of fingers, bilateral
OrphaCode: 295241
DisorderType: Clinical subtype
Name: Macrodactyly of toes
OrphaCode: 295047
DisorderType: Morphological anomaly
Children: Name: Macrodactyly of toes, unilateral
OrphaCode: 295243
DisorderType: Clinical subtype
Name: Macrodactyly of toes, bilateral
OrphaCode: 295245
DisorderType: Clinical subtype
Name: Upper limb hypertrophy
OrphaCode: 295049
DisorderType: Morphological anomaly
Name: Lower limb hypertrophy
OrphaCode: 295051
DisorderType: Morphological anomaly
Name: Bipartite talus
OrphaCode: 364198
DisorderType: Morphological anomaly
Name: Rare vascular anomaly
OrphaCode: 68419
DisorderType: Category
Children: Name: Rare vascular malformation of major vessels
OrphaCode: 458844
DisorderType: Category
Children: Name: Congenital anomaly of the great arteries
OrphaCode: 98724
DisorderType: Category
Children: Name: Aortic arch defects
OrphaCode: 1132
DisorderType: Category
Children: Name: Encircling double aortic arch
OrphaCode: 99075
DisorderType: Morphological anomaly
Name: Persistent fifth aortic arch
OrphaCode: 99076
DisorderType: Morphological anomaly
Name: Kommerell diverticulum
OrphaCode: 99077
DisorderType: Morphological anomaly
Name: Neuhauser anomaly
OrphaCode: 99078
DisorderType: Morphological anomaly
Name: Cervical aortic arch
OrphaCode: 99079
DisorderType: Morphological anomaly
Name: Right aortic arch
OrphaCode: 99081
DisorderType: Morphological anomaly
Name: Dysphagia lusoria
OrphaCode: 99082
DisorderType: Morphological anomaly
Name: Scimitar syndrome
OrphaCode: 185
DisorderType: Malformation syndrome
Name: Arterial duct anomaly
OrphaCode: 95485
DisorderType: Category
Children: Name: Premature closure of the arterial duct
OrphaCode: 95486
DisorderType: Morphological anomaly
Name: Congenital patent ductus arteriosus aneurysm
OrphaCode: 99072
DisorderType: Morphological anomaly
Name: Familial patent arterial duct
OrphaCode: 466729
DisorderType: Morphological anomaly
Name: Aortic malformation
OrphaCode: 98718
DisorderType: Category
Children: Name: Supravalvular aortic stenosis
OrphaCode: 3193
DisorderType: Morphological anomaly
Name: Aorta coarctation
OrphaCode: 1457
DisorderType: Morphological anomaly
Name: Aortic arch interruption
OrphaCode: 2299
DisorderType: Morphological anomaly
Name: Fixed subaortic stenosis
OrphaCode: 3092
DisorderType: Morphological anomaly
Children: Name: Discrete fixed membranous subaortic stenosis
OrphaCode: 99051
DisorderType: Clinical subtype
Name: Discrete fibromuscular subaortic stenosis
OrphaCode: 99052
DisorderType: Clinical subtype
Name: Tunnel subaortic stenosis
OrphaCode: 99053
DisorderType: Clinical subtype
Name: Congenital aortic valve stenosis
OrphaCode: 3093
DisorderType: Morphological anomaly
Children: Name: Congenital aortic valve atresia
OrphaCode: 95448
DisorderType: Clinical subtype
Name: Congenital aortic valve dysplasia
OrphaCode: 101043
DisorderType: Clinical subtype
Name: Familial bicuspid aortic valve
OrphaCode: 402075
DisorderType: Morphological anomaly
Name: Middle aortic syndrome
OrphaCode: 1456
DisorderType: Morphological anomaly
Name: Quadricuspid aortic valve
OrphaCode: 542568
DisorderType: Morphological anomaly
Name: Pulmonary artery or pulmonary branch anomaly
OrphaCode: 98719
DisorderType: Category
Children: Name: Pulmonary atresia-intact ventricular septum syndrome
OrphaCode: 1208
DisorderType: Morphological anomaly
Name: Pulmonary valve agenesis
OrphaCode: 982
DisorderType: Clinical group
Children: Name: Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome
OrphaCode: 99048
DisorderType: Malformation syndrome
Name: Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
OrphaCode: 101206
DisorderType: Malformation syndrome
Name: Absence of the pulmonary artery
OrphaCode: 980
DisorderType: Morphological anomaly
Name: Congenital pulmonary valvar stenosis
OrphaCode: 3189
DisorderType: Morphological anomaly
Children: Name: Subpulmonary stenosis
OrphaCode: 3190
DisorderType: Clinical subtype
Name: Supravalvular pulmonary stenosis
OrphaCode: 3192
DisorderType: Clinical subtype
Name: Valvular pulmonary stenosis
OrphaCode: 99054
DisorderType: Clinical subtype
Name: Idiopathic pulmonary artery dilatation
OrphaCode: 1676
DisorderType: Disease
Name: Pulmonary artery hypoplasia
OrphaCode: 99083
DisorderType: Morphological anomaly
Name: Peripheral pulmonary stenosis
OrphaCode: 99084
DisorderType: Morphological anomaly
Name: Ascending aorta anomaly
OrphaCode: 98725
DisorderType: Category
Children: Name: Aneurysm of sinus of Valsalva
OrphaCode: 1054
DisorderType: Morphological anomaly
Name: Congenital aortic valve stenosis
OrphaCode: 3093
DisorderType: Morphological anomaly
Children: Name: Congenital aortic valve atresia
OrphaCode: 95448
DisorderType: Clinical subtype
Name: Congenital aortic valve dysplasia
OrphaCode: 101043
DisorderType: Clinical subtype
Name: Aorto-ventricular tunnel
OrphaCode: 3400
DisorderType: Morphological anomaly
Children: Name: Aorto-right ventricular tunnel
OrphaCode: 99070
DisorderType: Clinical subtype
Name: Aorto-left ventricular tunnel
OrphaCode: 99071
DisorderType: Clinical subtype
Name: Congenital anomaly of the great veins
OrphaCode: 363189
DisorderType: Category
Children: Name: Congenital systemic veins anomaly
OrphaCode: 3091
DisorderType: Category
Children: Name: Congenital anomaly of superior vena cava
OrphaCode: 95498
DisorderType: Category
Children: Name: Primary superior vena cava aneurysm
OrphaCode: 652668
DisorderType: Malformation syndrome
Name: Persistent left superior vena cava connecting through coronary sinus to left-sided atrium
OrphaCode: 99109
DisorderType: Morphological anomaly
Name: Right superior vena cava connecting to left-sided atrium
OrphaCode: 99110
DisorderType: Morphological anomaly
Name: Persistent left superior vena cava connecting to the roof of left-sided atrium
OrphaCode: 99111
DisorderType: Morphological anomaly
Name: Absence of innominate vein
OrphaCode: 99112
DisorderType: Morphological anomaly
Name: Subaortic course of innominate vein
OrphaCode: 99113
DisorderType: Morphological anomaly
Name: Agenesis of the superior vena cava
OrphaCode: 99114
DisorderType: Morphological anomaly
Name: Congenital anomaly of the inferior vena cava
OrphaCode: 95499
DisorderType: Category
Children: Name: Primary inferior vena cava aneurysm
OrphaCode: 652678
DisorderType: Morphological anomaly
Name: Right inferior vena cava connecting to left-sided atrium
OrphaCode: 99119
DisorderType: Morphological anomaly
Name: Persistent eustachian valve
OrphaCode: 99120
DisorderType: Morphological anomaly
Name: Azygos continuation of the inferior vena cava
OrphaCode: 99121
DisorderType: Morphological anomaly
Name: Congenital stenosis of the inferior vena cava
OrphaCode: 99122
DisorderType: Morphological anomaly
Name: Inferior vena cava interruption without azygos continuation
OrphaCode: 99123
DisorderType: Morphological anomaly
Name: Congenital anomaly of the coronary sinus
OrphaCode: 95500
DisorderType: Category
Children: Name: Coronary sinus stenosis
OrphaCode: 99117
DisorderType: Morphological anomaly
Name: Coronary sinus atresia
OrphaCode: 99118
DisorderType: Morphological anomaly
Name: Congenital anomaly of hepatic vein
OrphaCode: 95507
DisorderType: Morphological anomaly
Name: Congenital portosystemic shunt
OrphaCode: 480531
DisorderType: Morphological anomaly
Name: Congenital pulmonary veins anomaly
OrphaCode: 98729
DisorderType: Category
Children: Name: Congenital pulmonary venous return anomaly
OrphaCode: 3090
DisorderType: Clinical group
Children: Name: Congenital partial pulmonary venous return anomaly
OrphaCode: 99124
DisorderType: Morphological anomaly
Name: Congenital total pulmonary venous return anomaly
OrphaCode: 99125
DisorderType: Morphological anomaly
Name: Scimitar syndrome
OrphaCode: 185
DisorderType: Malformation syndrome
Name: Congenital pulmonary veins atresia or stenosis
OrphaCode: 3188
DisorderType: Clinical group
Children: Name: Congenital pulmonary vein atresia
OrphaCode: 99126
DisorderType: Morphological anomaly
Name: Primary pulmonary vein stenosis
OrphaCode: 642071
DisorderType: Disease
Name: Internal carotid absence
OrphaCode: 981
DisorderType: Morphological anomaly
Name: Congenital renal artery stenosis
OrphaCode: 97598
DisorderType: Disease
Name: Extracranial carotid artery aneurysm
OrphaCode: 494424
DisorderType: Morphological anomaly
Name: Rare combined vascular malformation
OrphaCode: 458837
DisorderType: Clinical group
Name: Complex vascular malformation with associated anomalies
OrphaCode: 211277
DisorderType: Category
Children: Name: CLAPO syndrome
OrphaCode: 168984
DisorderType: Malformation syndrome
Name: Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
OrphaCode: 137608
DisorderType: Malformation syndrome
Name: Angioosteohypertrophic syndrome
OrphaCode: 2346
DisorderType: Clinical group
Children: Name: Parkes Weber syndrome
OrphaCode: 90307
DisorderType: Disease
Name: Klippel-Trénaunay syndrome
OrphaCode: 90308
DisorderType: Disease
Name: Angioosteohypotrophic syndrome
OrphaCode: 75508
DisorderType: Malformation syndrome
Name: Bannayan-Riley-Ruvalcaba syndrome
OrphaCode: 109
DisorderType: Malformation syndrome
Name: Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome
OrphaCode: 86914
DisorderType: Malformation syndrome
Name: Proteus syndrome
OrphaCode: 744
DisorderType: Malformation syndrome
Name: CLOVES syndrome
OrphaCode: 140944
DisorderType: Malformation syndrome
Name: Maffucci syndrome
OrphaCode: 163634
DisorderType: Disease
Name: Inverse Klippel-Trénaunay syndrome
OrphaCode: 329324
DisorderType: Disease
Name: Rare vascular tumor
OrphaCode: 211237
DisorderType: Category
Children: Name: Malignant vascular tumor
OrphaCode: 673466
DisorderType: Clinical group
Children: Name: Epithelioid hemangioendothelioma
OrphaCode: 157791
DisorderType: Disease
Name: Angiosarcoma
OrphaCode: 263413
DisorderType: Disease
Name: Benign vascular tumor
OrphaCode: 673470
DisorderType: Clinical group
Children: Name: Hereditary neurocutaneous malformation
OrphaCode: 1062
DisorderType: Disease
Name: Tufted angioma
OrphaCode: 1063
DisorderType: Disease
Name: Retinal capillary malformation
OrphaCode: 71213
DisorderType: Disease
Name: Spindle cell hemangioma
OrphaCode: 210584
DisorderType: Disease
Name: Congenital hemangioma
OrphaCode: 458775
DisorderType: Clinical group
Children: Name: Partially involuting congenital hemangioma
OrphaCode: 458785
DisorderType: Disease
Name: Rapidly involuting congenital hemangioma
OrphaCode: 141184
DisorderType: Disease
Name: Non-involuting congenital hemangioma
OrphaCode: 141179
DisorderType: Disease
Name: Anastomosing haemangioma
OrphaCode: 675359
DisorderType: Disease
Name: Acquired elastotic haemangioma
OrphaCode: 675597
DisorderType: Disease
Name: Hobnail hemangioma
OrphaCode: 675362
DisorderType: Disease
Name: Microvenular haemangioma
OrphaCode: 675369
DisorderType: Disease
Name: Epithelioid hemangioma
OrphaCode: 675396
DisorderType: Disease
Name: Papillary hemangioma
OrphaCode: 673543
DisorderType: Disease
Name: Reactive angioendotheliomatosis
OrphaCode: 673574
DisorderType: Disease
Name: Eccrine angiomatous hamartoma
OrphaCode: 673568
DisorderType: Disease
Name: Littoral cell hemangioma of the spleen
OrphaCode: 673538
DisorderType: Disease
Name: Intravascular papillary endothelial hyperplasia
OrphaCode: 673525
DisorderType: Disease
Name: Rare infantile hemangioma
OrphaCode: 210589
DisorderType: Clinical group
Children: Name: Multifocal infantile hemangioma with extracutenous involvement
OrphaCode: 2123
DisorderType: Malformation syndrome
Name: Isolated segmental infantile hemangioma
OrphaCode: 675380
DisorderType: Disease
Name: PHACE syndrome
OrphaCode: 42775
DisorderType: Malformation syndrome
Name: LUMBAR syndrome
OrphaCode: 83628
DisorderType: Malformation syndrome
Name: Airway infantile hemangioma
OrphaCode: 137935
DisorderType: Disease
Name: Borderline vascular tumor
OrphaCode: 673473
DisorderType: Clinical group
Children: Name: Kaposiform hemangioendothelioma
OrphaCode: 2122
DisorderType: Disease
Name: Kaposi sarcoma
OrphaCode: 33276
DisorderType: Disease
Name: Composite hemangioendothelioma
OrphaCode: 458758
DisorderType: Disease
Name: Retiform hemangioendothelioma
OrphaCode: 458763
DisorderType: Disease
Name: Papillary intralymphatic angioendothelioma
OrphaCode: 458768
DisorderType: Disease
Name: Pseudomyogenic hemangioendothelioma
OrphaCode: 673556
DisorderType: Disease
Name: Simple vascular malformation
OrphaCode: 211243
DisorderType: Category
Children: Name: Rare capillary malformation
OrphaCode: 211247
DisorderType: Category
Children: Name: Angioma serpiginosum
OrphaCode: 95429
DisorderType: Disease
Name: Familial multiple nevi flammei
OrphaCode: 624
DisorderType: Morphological anomaly
Name: Verrucous hemangioma
OrphaCode: 464318
DisorderType: Disease
Name: Rare capillary malformation with associated anomalies
OrphaCode: 458830
DisorderType: Category
Children: Name: Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
OrphaCode: 2703
DisorderType: Malformation syndrome
Name: Megalencephaly-capillary malformation-polymicrogyria syndrome
OrphaCode: 60040
DisorderType: Malformation syndrome
Name: Sturge-Weber syndrome
OrphaCode: 3205
DisorderType: Malformation syndrome
Name: Microcephaly-capillary malformation syndrome
OrphaCode: 294016
DisorderType: Malformation syndrome
Name: Hemihyperplasia-multiple lipomatosis syndrome
OrphaCode: 276280
DisorderType: Malformation syndrome
Name: Hereditary hemorrhagic telangiectasia
OrphaCode: 774
DisorderType: Disease
Name: Cutis marmorata telangiectatica congenita
OrphaCode: 1556
DisorderType: Malformation syndrome
Name: Capillary malformation-arteriovenous malformation
OrphaCode: 137667
DisorderType: Malformation syndrome
Name: Rare venous malformation
OrphaCode: 211252
DisorderType: Category
Children: Name: Familial cerebral cavernous malformation
OrphaCode: 221061
DisorderType: Malformation syndrome
Name: Blue rubber bleb nevus
OrphaCode: 1059
DisorderType: Malformation syndrome
Name: Mucocutaneous venous malformations
OrphaCode: 2451
DisorderType: Malformation syndrome
Name: Glomuvenous malformation
OrphaCode: 83454
DisorderType: Malformation syndrome
Name: Bockenheimer syndrome
OrphaCode: 217008
DisorderType: Malformation syndrome
Name: Primary intraosseous venous malformation
OrphaCode: 140436
DisorderType: Disease
Name: Rare lymphatic system anomaly
OrphaCode: 211255
DisorderType: Category
Children: Name: Primary lymphedema
OrphaCode: 77240
DisorderType: Category
Children: Name: Primary lymphedema without systemic or visceral involvement
OrphaCode: 568041
DisorderType: Category
Children: Name: Congenital primary lymphedema without systemic or visceral involvement
OrphaCode: 2416
DisorderType: Clinical group
Children: Name: Amniotic band syndrome
OrphaCode: 295000
DisorderType: Malformation syndrome
Name: Milroy disease
OrphaCode: 79452
DisorderType: Disease
Name: Congenital primary lymphedema of Gordon
OrphaCode: 569821
DisorderType: Disease
Name: Microcephaly-lymphedema-chorioretinopathy syndrome
OrphaCode: 2526
DisorderType: Malformation syndrome
Name: German syndrome
OrphaCode: 2077
DisorderType: Malformation syndrome
Name: Late-onset primary lymphedema without systemic or visceral involvement
OrphaCode: 289825
DisorderType: Clinical group
Children: Name: Cholestasis-lymphedema syndrome
OrphaCode: 1414
DisorderType: Disease
Name: Meige disease
OrphaCode: 90186
DisorderType: Disease
Name: CELSR1-related late-onset primary lymphedema
OrphaCode: 569816
DisorderType: Disease
Name: GJC2-related late-onset primary lymphedema
OrphaCode: 568051
DisorderType: Disease
Name: Lymphedema-distichiasis syndrome
OrphaCode: 33001
DisorderType: Malformation syndrome
Name: Lymphedema-posterior choanal atresia syndrome
OrphaCode: 99141
DisorderType: Malformation syndrome
Name: Primary lymphedema with systemic or visceral involvement
OrphaCode: 568044
DisorderType: Category
Children: Name: Dahlberg-Borer-Newcomer syndrome
OrphaCode: 1563
DisorderType: Malformation syndrome
Name: Aplasia cutis congenita-intestinal lymphangiectasia syndrome
OrphaCode: 1116
DisorderType: Disease
Name: Hennekam syndrome
OrphaCode: 2136
DisorderType: Malformation syndrome
Name: EPHB4-related lymphatic-related hydrops fetalis
OrphaCode: 568065
DisorderType: Disease
Name: PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis
OrphaCode: 568062
DisorderType: Disease
Name: Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome
OrphaCode: 568056
DisorderType: Disease
Name: Yellow nail syndrome
OrphaCode: 662
DisorderType: Disease
Name: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
OrphaCode: 69735
DisorderType: Disease
Name: Lymphedema-atrial septal defects-facial changes syndrome
OrphaCode: 86915
DisorderType: Malformation syndrome
Name: Disorder with multisystemic involvement and primary lymphedema
OrphaCode: 568047
DisorderType: Category
Children: Name: Takenouchi-Kosaki syndrome
OrphaCode: 487796
DisorderType: Malformation syndrome
Name: Fabry disease
OrphaCode: 324
DisorderType: Disease
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: Prolidase deficiency
OrphaCode: 742
DisorderType: Disease
Name: Cardiofaciocutaneous syndrome
OrphaCode: 1340
DisorderType: Malformation syndrome
Name: Müllerian derivatives-lymphangiectasia-polydactyly syndrome
OrphaCode: 1655
DisorderType: Malformation syndrome
Name: Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
OrphaCode: 69088
DisorderType: Disease
Name: Oculodentodigital dysplasia
OrphaCode: 2710
DisorderType: Malformation syndrome
Name: PEHO-like syndrome
OrphaCode: 99807
DisorderType: Disease
Name: PEHO syndrome
OrphaCode: 2836
DisorderType: Disease
Name: Phelan-McDermid syndrome
OrphaCode: 48652
DisorderType: Malformation syndrome
Children: Name: Phelan-McDermid syndrome due to SHANK3 mutation
OrphaCode: 662172
DisorderType: Etiological subtype
Name: Phelan-McDermid syndrome due to 22q13.3 deletion
OrphaCode: 662169
DisorderType: Etiological subtype
Name: Tuberous sclerosis complex
OrphaCode: 805
DisorderType: Disease
Name: Rare lymphatic malformation
OrphaCode: 2415
DisorderType: Category
Children: Name: Common cystic lymphatic malformation
OrphaCode: 458833
DisorderType: Clinical group
Children: Name: Macrocystic lymphatic malformation
OrphaCode: 79489
DisorderType: Malformation syndrome
Name: Microcystic lymphatic malformation
OrphaCode: 79490
DisorderType: Malformation syndrome
Name: Mixed cystic lymphatic malformation
OrphaCode: 458792
DisorderType: Malformation syndrome
Name: Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
OrphaCode: 464321
DisorderType: Disease
Name: Diffuse lymphatic malformation
OrphaCode: 141209
DisorderType: Malformation syndrome
Name: Kaposiform lymphangiomatosis
OrphaCode: 464329
DisorderType: Disease
Name: Gorham-Stout disease
OrphaCode: 73
DisorderType: Malformation syndrome
Name: Lymphedema-posterior choanal atresia syndrome
OrphaCode: 99141
DisorderType: Malformation syndrome
Name: Rare arteriovenous malformation
OrphaCode: 211266
DisorderType: Category
Children: Name: Pulmonary arteriovenous malformation
OrphaCode: 2038
DisorderType: Morphological anomaly
Name: Cerebral arteriovenous malformation
OrphaCode: 46724
DisorderType: Morphological anomaly
Name: Vein of Galen aneurysmal malformation
OrphaCode: 1053
DisorderType: Morphological anomaly
Name: Dural sinus malformation
OrphaCode: 97339
DisorderType: Morphological anomaly
Name: Spinal arteriovenous metameric syndrome
OrphaCode: 53721
DisorderType: Malformation syndrome
Name: Foix-Alajouanine syndrome
OrphaCode: 79093
DisorderType: Malformation syndrome
Name: Cerebrofacial arteriovenous metameric syndrome
OrphaCode: 141189
DisorderType: Clinical group
Children: Name: Wyburn-Mason syndrome
OrphaCode: 53719
DisorderType: Malformation syndrome
Name: Cerebrofacial arteriovenous metameric syndrome type 1
OrphaCode: 141194
DisorderType: Malformation syndrome
Name: Cerebrofacial arteriovenous metameric syndrome type 3
OrphaCode: 141199
DisorderType: Malformation syndrome
Name: Facial arteriovenous malformation
OrphaCode: 156230
DisorderType: Clinical group
Children: Name: Frontonasal arteriovenous malformation
OrphaCode: 141168
DisorderType: Malformation syndrome
Name: Maxillary arteriovenous malformation
OrphaCode: 141171
DisorderType: Malformation syndrome
Name: Mandibular arteriovenous malformation
OrphaCode: 141174
DisorderType: Malformation syndrome
Name: Congenital arteriovenous fistula
OrphaCode: 98731
DisorderType: Category
Children: Name: Congenital systemic arteriovenous fistula
OrphaCode: 2039
DisorderType: Morphological anomaly
Name: Rare teratologic disease
OrphaCode: 52662
DisorderType: Category
Children: Name: Infectious embryofetopathy
OrphaCode: 232035
DisorderType: Category
Children: Name: Fetal parvovirus syndrome
OrphaCode: 295
DisorderType: Malformation syndrome
Name: Congenital rubella syndrome
OrphaCode: 290
DisorderType: Disease
Name: Congenital toxoplasmosis
OrphaCode: 858
DisorderType: Disease
Name: Congenital varicella syndrome
OrphaCode: 291
DisorderType: Disease
Name: Congenital herpes simplex virus infection
OrphaCode: 293
DisorderType: Disease
Name: Fetal cytomegalovirus syndrome
OrphaCode: 294
DisorderType: Disease
Name: Congenital enterovirus infection
OrphaCode: 292
DisorderType: Disease
Name: Congenital Epstein-Barr virus infection
OrphaCode: 70596
DisorderType: Disease
Name: Congenital syphilis
OrphaCode: 499009
DisorderType: Disease
Name: Toxic or drug-related embryofetopathy
OrphaCode: 251529
DisorderType: Category
Children: Name: Propylthiouracil embryofetopathy
OrphaCode: 485358
DisorderType: Malformation syndrome
Name: Fetal alcohol syndrome
OrphaCode: 1915
DisorderType: Malformation syndrome
Name: Aminopterin/methotrexate embryofetopathy
OrphaCode: 1908
DisorderType: Malformation syndrome
Name: Indomethacin embryofetopathy
OrphaCode: 1909
DisorderType: Malformation syndrome
Name: Fetal iodine syndrome
OrphaCode: 1910
DisorderType: Malformation syndrome
Name: Cocaine embryofetopathy
OrphaCode: 1911
DisorderType: Malformation syndrome
Name: Fetal minoxidil syndrome
OrphaCode: 1918
DisorderType: Malformation syndrome
Name: Vitamin K antagonist embryofetopathy
OrphaCode: 1914
DisorderType: Malformation syndrome
Name: Diethylstilbestrol syndrome
OrphaCode: 1916
DisorderType: Malformation syndrome
Name: Fetal methylmercury syndrome
OrphaCode: 1917
DisorderType: Malformation syndrome
Name: Toluene embryopathy
OrphaCode: 1920
DisorderType: Malformation syndrome
Name: Methimazole embryofetopathy
OrphaCode: 1923
DisorderType: Malformation syndrome
Name: Isotretinoin syndrome
OrphaCode: 2305
DisorderType: Malformation syndrome
Name: Thalidomide embryopathy
OrphaCode: 3312
DisorderType: Malformation syndrome
Name: Acitretin/etretinate embryopathy
OrphaCode: 40366
DisorderType: Malformation syndrome
Name: Mycophenolate mofetil embryopathy
OrphaCode: 268249
DisorderType: Malformation syndrome
Name: Fetal anticonvulsant syndrome
OrphaCode: 370068
DisorderType: Clinical group
Children: Name: Fetal valproate spectrum disorder
OrphaCode: 1906
DisorderType: Malformation syndrome
Name: Fetal hydantoin syndrome
OrphaCode: 1912
DisorderType: Malformation syndrome
Name: Fetal trimethadione syndrome
OrphaCode: 1913
DisorderType: Malformation syndrome
Name: Phenobarbital embryopathy
OrphaCode: 1919
DisorderType: Malformation syndrome
Name: Fetal carbamazepine syndrome
OrphaCode: 370076
DisorderType: Malformation syndrome
Name: Maternal disease-related embryofetopathy
OrphaCode: 251535
DisorderType: Category
Children: Name: Diabetic embryopathy
OrphaCode: 1926
DisorderType: Malformation syndrome
Name: Maternal phenylketonuria
OrphaCode: 2209
DisorderType: Malformation syndrome
Name: Maternal hyperthermia-induced birth defects
OrphaCode: 2216
DisorderType: Malformation syndrome
Name: Urogenital tract malformation
OrphaCode: 83001
DisorderType: Category
Children: Name: Non-syndromic urogenital tract malformation
OrphaCode: 165704
DisorderType: Category
Children: Name: Non-syndromic urogenital tract malformation of female
OrphaCode: 182117
DisorderType: Category
Children: Name: Non-syndromic uterovaginal malformation
OrphaCode: 180065
DisorderType: Category
Children: Name: Diethylstilbestrol syndrome
OrphaCode: 1916
DisorderType: Malformation syndrome
Name: Müllerian aplasia
OrphaCode: 73217
DisorderType: Clinical group
Children: Name: Partial bilateral aplasia of the Müllerian ducts
OrphaCode: 180068
DisorderType: Clinical group
Children: Name: Mayer-Rokitansky-Küster-Hauser syndrome
OrphaCode: 3109
DisorderType: Malformation syndrome
Children: Name: Mayer-Rokitansky-Küster-Hauser syndrome type 2
OrphaCode: 2578
DisorderType: Clinical subtype
Name: Mayer-Rokitansky-Küster-Hauser syndrome type 1
OrphaCode: 247775
DisorderType: Clinical subtype
Name: Müllerian aplasia and hyperandrogenism
OrphaCode: 247768
DisorderType: Malformation syndrome
Name: Unilateral aplasia of the Müllerian ducts
OrphaCode: 180071
DisorderType: Clinical group
Children: Name: True unicornuate uterus
OrphaCode: 180074
DisorderType: Morphological anomaly
Name: Pseudounicornuate uterus
OrphaCode: 180079
DisorderType: Morphological anomaly
Name: Septate uterus
OrphaCode: 180122
DisorderType: Clinical group
Children: Name: Complete septate uterus
OrphaCode: 180126
DisorderType: Morphological anomaly
Name: Partial septate uterus
OrphaCode: 180129
DisorderType: Morphological anomaly
Name: Bicornuate uterus
OrphaCode: 180134
DisorderType: Clinical group
Children: Name: Didelphys uterus
OrphaCode: 180086
DisorderType: Morphological anomaly
Children: Name: Bicervical bicornuate uterus and blind hemivagina
OrphaCode: 180106
DisorderType: Clinical subtype
Name: Bicervical bicornuate uterus with patent cervix and vagina
OrphaCode: 180111
DisorderType: Clinical subtype
Name: Unicervical bicornuate uterus
OrphaCode: 180114
DisorderType: Morphological anomaly
Name: Uterine hypoplasia
OrphaCode: 180139
DisorderType: Morphological anomaly
Name: Absence of uterine body
OrphaCode: 180142
DisorderType: Morphological anomaly
Name: Uterine cervical aplasia and agenesis
OrphaCode: 180145
DisorderType: Morphological anomaly
Name: Rare vaginal malformation
OrphaCode: 180151
DisorderType: Category
Children: Name: Vaginal atresia
OrphaCode: 65681
DisorderType: Morphological anomaly
Name: Isolated partial vaginal agenesis
OrphaCode: 96269
DisorderType: Morphological anomaly
Name: Septate vagina
OrphaCode: 180154
DisorderType: Morphological anomaly
Children: Name: Longitudinal vaginal septum
OrphaCode: 180157
DisorderType: Clinical subtype
Name: Transverse vaginal septum
OrphaCode: 180160
DisorderType: Clinical subtype
Name: Isolated female hypospadias
OrphaCode: 603515
DisorderType: Morphological anomaly
Name: Isolated persistent urogenital sinus
OrphaCode: 647794
DisorderType: Morphological anomaly
Name: Non-syndromic urogenital tract malformation of male
OrphaCode: 182121
DisorderType: Category
Children: Name: Congenital bilateral absence of vas deferens
OrphaCode: 48
DisorderType: Morphological anomaly
Name: Penoscrotal transposition
OrphaCode: 2842
DisorderType: Morphological anomaly
Name: Penile agenesis
OrphaCode: 49
DisorderType: Morphological anomaly
Name: Diphallia
OrphaCode: 227
DisorderType: Morphological anomaly
Name: Non-syndromic posterior hypospadias
OrphaCode: 95706
DisorderType: Morphological anomaly
Name: Idiopathic isolated micropenis
OrphaCode: 95707
DisorderType: Morphological anomaly
Name: Congenital agenesis of the scrotum
OrphaCode: 495879
DisorderType: Morphological anomaly
Name: Non-syndromic urogenital tract malformation of male and female
OrphaCode: 182124
DisorderType: Category
Children: Name: Exstrophy-epispadias complex
OrphaCode: 322
DisorderType: Malformation syndrome
Children: Name: Isolated epispadias
OrphaCode: 93928
DisorderType: Clinical subtype
Name: Cloacal exstrophy
OrphaCode: 93929
DisorderType: Clinical subtype
Name: Bladder exstrophy
OrphaCode: 93930
DisorderType: Clinical subtype
Name: Duplication of urethra
OrphaCode: 237
DisorderType: Morphological anomaly
Name: Congenital primary megaureter
OrphaCode: 617
DisorderType: Morphological anomaly
Children: Name: Primary megaureter, adult-onset form
OrphaCode: 238642
DisorderType: Clinical subtype
Name: Congenital primary megaureter, obstructed form
OrphaCode: 238646
DisorderType: Clinical subtype
Name: Congenital primary megaureter, refluxing form
OrphaCode: 238650
DisorderType: Clinical subtype
Name: Congenital primary megaureter, nonrefluxing and unobstructed form
OrphaCode: 238654
DisorderType: Clinical subtype
Name: Congenital primary megaureter, refluxing and obstructed form
OrphaCode: 544578
DisorderType: Clinical subtype
Name: Familial vesicoureteral reflux
OrphaCode: 289365
DisorderType: Malformation syndrome
Name: Fetal lower urinary tract obstruction
OrphaCode: 435365
DisorderType: Clinical group
Children: Name: Prune belly syndrome
OrphaCode: 2970
DisorderType: Malformation syndrome
Name: Atresia of urethra
OrphaCode: 105
DisorderType: Morphological anomaly
Name: Posterior urethral valve
OrphaCode: 93110
DisorderType: Morphological anomaly
Name: Anterior urethral valve
OrphaCode: 435372
DisorderType: Morphological anomaly
Name: Congenital urachal anomaly
OrphaCode: 435743
DisorderType: Category
Children: Name: Urachal cyst
OrphaCode: 488
DisorderType: Morphological anomaly
Name: Patent urachus
OrphaCode: 431341
DisorderType: Morphological anomaly
Name: Urachal sinus
OrphaCode: 431344
DisorderType: Morphological anomaly
Name: Urachal diverticulum
OrphaCode: 431347
DisorderType: Morphological anomaly
Name: Syndromic urogenital tract malformation
OrphaCode: 165707
DisorderType: Category
Children: Name: SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
OrphaCode: 597743
DisorderType: Malformation syndrome
Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: Aarskog-Scott syndrome
OrphaCode: 915
DisorderType: Malformation syndrome
Name: Lethal hemolytic anemia-genital anomalies syndrome
OrphaCode: 1046
DisorderType: Malformation syndrome
Name: Caudal regression-sirenomelia spectrum
OrphaCode: 444941
DisorderType: Clinical group
Children: Name: Sirenomelia
OrphaCode: 3169
DisorderType: Malformation syndrome
Name: Caudal regression syndrome
OrphaCode: 3027
DisorderType: Malformation syndrome
Name: Familial caudal dysgenesis
OrphaCode: 1768
DisorderType: Malformation syndrome
Name: 48,XXYY syndrome
OrphaCode: 10
DisorderType: Malformation syndrome
Name: Spina bifida-hypospadias syndrome
OrphaCode: 3176
DisorderType: Malformation syndrome
Name: Abruzzo-Erickson syndrome
OrphaCode: 921
DisorderType: Malformation syndrome
Name: Branchioskeletogenital syndrome
OrphaCode: 1299
DisorderType: Malformation syndrome
Name: Autosomal recessive faciodigitogenital syndrome
OrphaCode: 1974
DisorderType: Malformation syndrome
Name: Hypertelorism-hypospadias-polysyndactyly syndrome
OrphaCode: 2211
DisorderType: Malformation syndrome
Name: Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
OrphaCode: 2252
DisorderType: Malformation syndrome
Name: Hypospadias-intellectual disability, Goldblatt type syndrome
OrphaCode: 2261
DisorderType: Malformation syndrome
Name: Schilbach-Rott syndrome
OrphaCode: 2353
DisorderType: Malformation syndrome
Name: Czeizel-Losonci syndrome
OrphaCode: 2437
DisorderType: Malformation syndrome
Name: Lower limb malformation-hypospadias syndrome
OrphaCode: 2487
DisorderType: Malformation syndrome
Name: Müllerian duct anomalies-limb anomalies syndrome
OrphaCode: 2491
DisorderType: Malformation syndrome
Name: Nephrosis-deafness-urinary tract-digital malformations syndrome
OrphaCode: 2669
DisorderType: Malformation syndrome
Name: Guttmacher syndrome
OrphaCode: 2957
DisorderType: Malformation syndrome
Name: Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
OrphaCode: 3224
DisorderType: Malformation syndrome
Name: Torticollis-keloids-cryptorchidism-renal dysplasia syndrome
OrphaCode: 3341
DisorderType: Malformation syndrome
Name: Opitz GBBB syndrome
OrphaCode: 2745
DisorderType: Malformation syndrome
Name: Double uterus-hemivagina-renal agenesis syndrome
OrphaCode: 3411
DisorderType: Malformation syndrome
Name: IMAGe syndrome
OrphaCode: 85173
DisorderType: Malformation syndrome
Name: Müllerian derivatives-lymphangiectasia-polydactyly syndrome
OrphaCode: 1655
DisorderType: Malformation syndrome
Name: 48,XXXY syndrome
OrphaCode: 96263
DisorderType: Malformation syndrome
Name: 49,XXXXY syndrome
OrphaCode: 96264
DisorderType: Malformation syndrome
Name: 48,XYYY syndrome
OrphaCode: 99329
DisorderType: Malformation syndrome
Name: 8p23.1 microdeletion syndrome
OrphaCode: 251071
DisorderType: Malformation syndrome
Name: ARX-related encephalopathy-brain malformation spectrum
OrphaCode: 423655
DisorderType: Clinical group
Children: Name: Corpus callosum agenesis-abnormal genitalia syndrome
OrphaCode: 2508
DisorderType: Malformation syndrome
Name: X-linked lissencephaly with abnormal genitalia
OrphaCode: 452
DisorderType: Malformation syndrome
Name: Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
OrphaCode: 439897
DisorderType: Malformation syndrome
Name: Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
OrphaCode: 500135
DisorderType: Malformation syndrome
Name: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
OrphaCode: 495875
DisorderType: Malformation syndrome
Name: B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
OrphaCode: 567502
DisorderType: Disease
Name: KAT6B-related multiple congenital anomalies syndrome
OrphaCode: 597749
DisorderType: Clinical group
Children: Name: Blepharophimosis-intellectual disability syndrome, SBBYS type
OrphaCode: 3047
DisorderType: Malformation syndrome
Name: Genitopatellar syndrome
OrphaCode: 85201
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
OrphaCode: 597746
DisorderType: Malformation syndrome
Name: Syndromic genetic deafness
OrphaCode: 90642
DisorderType: Category
Children: Name: Duane retraction syndrome with congenital deafness
OrphaCode: 529574
DisorderType: Malformation syndrome
Name: Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
OrphaCode: 508476
DisorderType: Malformation syndrome
Name: Congenital vertebral-cardiac-renal anomalies syndrome
OrphaCode: 521438
DisorderType: Malformation syndrome
Name: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
OrphaCode: 521445
DisorderType: Malformation syndrome
Name: Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
OrphaCode: 397623
DisorderType: Malformation syndrome
Name: 1p35.2 microdeletion syndrome
OrphaCode: 456298
DisorderType: Malformation syndrome
Name: Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
OrphaCode: 171848
DisorderType: Disease
Name: MEDNIK syndrome
OrphaCode: 171851
DisorderType: Disease
Name: EAST syndrome
OrphaCode: 199343
DisorderType: Disease
Name: Xeroderma pigmentosum-Cockayne syndrome complex
OrphaCode: 220295
DisorderType: Disease
Name: Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
OrphaCode: 228012
DisorderType: Disease
Name: Familial steroid-resistant nephrotic syndrome with sensorineural deafness
OrphaCode: 280406
DisorderType: Disease
Name: Dysmorphism-conductive hearing loss-heart defect syndrome
OrphaCode: 289553
DisorderType: Malformation syndrome
Name: Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
OrphaCode: 293958
DisorderType: Malformation syndrome
Name: Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
OrphaCode: 293967
DisorderType: Malformation syndrome
Name: Connective tissue disorder due to lysyl hydroxylase-3 deficiency
OrphaCode: 300284
DisorderType: Disease
Name: Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
OrphaCode: 300333
DisorderType: Disease
Name: Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
OrphaCode: 314404
DisorderType: Disease
Name: Chudley-McCullough syndrome
OrphaCode: 314597
DisorderType: Malformation syndrome
Name: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
OrphaCode: 329336
DisorderType: Disease
Name: Hypotrichosis-deafness syndrome
OrphaCode: 330029
DisorderType: Disease
Name: Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
OrphaCode: 330054
DisorderType: Disease
Name: MEGDEL syndrome
OrphaCode: 352328
DisorderType: Disease
Name: Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
OrphaCode: 363649
DisorderType: Disease
Name: Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
OrphaCode: 369939
DisorderType: Malformation syndrome
Name: Congenital disorder of glycosylation with deafness as a major feature
OrphaCode: 371212
DisorderType: Category
Children: Name: CHIME syndrome
OrphaCode: 3474
DisorderType: Malformation syndrome
Name: RFT1-CDG
OrphaCode: 244310
DisorderType: Disease
Name: Temtamy preaxial brachydactyly syndrome
OrphaCode: 363417
DisorderType: Malformation syndrome
Name: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
OrphaCode: 397744
DisorderType: Disease
Name: Autosomal recessive distal renal tubular acidosis
OrphaCode: 402041
DisorderType: Clinical subtype
Name: Wolfram-like syndrome
OrphaCode: 411590
DisorderType: Disease
Name: Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
OrphaCode: 436174
DisorderType: Disease
Name: PCNA-related progressive neurodegenerative photosensitivity syndrome
OrphaCode: 438134
DisorderType: Disease
Name: Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
OrphaCode: 440354
DisorderType: Malformation syndrome
Name: Hyperostosis cranialis interna
OrphaCode: 443098
DisorderType: Disease
Name: Mandibulofacial dysostosis with alopecia
OrphaCode: 443995
DisorderType: Malformation syndrome
Name: Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
OrphaCode: 445062
DisorderType: Disease
Name: Progressive autosomal recessive ataxia-deafness syndrome
OrphaCode: 448251
DisorderType: Disease
Name: Kearns-Sayre syndrome
OrphaCode: 480
DisorderType: Disease
Name: MELAS
OrphaCode: 550
DisorderType: Disease
Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: 22q11.2 deletion syndrome
OrphaCode: 567
DisorderType: Malformation syndrome
Name: Full NF2-related schwannomatosis
OrphaCode: 637
DisorderType: Disease
Name: Norrie disease
OrphaCode: 649
DisorderType: Malformation syndrome
Name: Townes-Brocks syndrome
OrphaCode: 857
DisorderType: Malformation syndrome
Name: BOR syndrome
OrphaCode: 107
DisorderType: Malformation syndrome
Name: Treacher-Collins syndrome
OrphaCode: 861
DisorderType: Malformation syndrome
Name: Albinism-deafness syndrome
OrphaCode: 998
DisorderType: Malformation syndrome
Name: Ermine phenotype
OrphaCode: 999
DisorderType: Malformation syndrome
Name: Ocular albinism with late-onset sensorineural deafness
OrphaCode: 1000
DisorderType: Disease
Name: Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
OrphaCode: 3085
DisorderType: Malformation syndrome
Name: KID syndrome
OrphaCode: 477
DisorderType: Disease
Name: Pendred syndrome
OrphaCode: 705
DisorderType: Malformation syndrome
Name: Alport syndrome
OrphaCode: 63
DisorderType: Disease
Children: Name: X-linked Alport syndrome
OrphaCode: 88917
DisorderType: Clinical subtype
Name: Autosomal dominant Alport syndrome
OrphaCode: 88918
DisorderType: Clinical subtype
Name: Autosomal recessive Alport syndrome
OrphaCode: 88919
DisorderType: Clinical subtype
Name: X-linked Alport syndrome-diffuse leiomyomatosis
OrphaCode: 1018
DisorderType: Clinical subtype
Name: Digenic Alport syndrome
OrphaCode: 653722
DisorderType: Clinical subtype
Name: Cockayne syndrome
OrphaCode: 191
DisorderType: Disease
Children: Name: COFS syndrome
OrphaCode: 1466
DisorderType: Clinical subtype
Name: Cockayne syndrome type 1
OrphaCode: 90321
DisorderType: Clinical subtype
Name: Cockayne syndrome type 2
OrphaCode: 90322
DisorderType: Clinical subtype
Name: Cockayne syndrome type 3
OrphaCode: 90324
DisorderType: Clinical subtype
Name: Usher syndrome
OrphaCode: 886
DisorderType: Disease
Children: Name: Usher syndrome type 3
OrphaCode: 231183
DisorderType: Clinical subtype
Name: Usher syndrome type 1
OrphaCode: 231169
DisorderType: Clinical subtype
Name: Usher syndrome type 2
OrphaCode: 231178
DisorderType: Clinical subtype
Name: Waardenburg syndrome
OrphaCode: 3440
DisorderType: Disease
Children: Name: Waardenburg syndrome type 1
OrphaCode: 894
DisorderType: Clinical subtype
Name: Waardenburg syndrome type 2
OrphaCode: 895
DisorderType: Clinical subtype
Name: Waardenburg syndrome type 3
OrphaCode: 896
DisorderType: Clinical subtype
Name: Wolfram syndrome
OrphaCode: 3463
DisorderType: Disease
Name: Stickler syndrome
OrphaCode: 828
DisorderType: Disease
Children: Name: Stickler syndrome type 1
OrphaCode: 90653
DisorderType: Clinical subtype
Name: Stickler syndrome type 2
OrphaCode: 90654
DisorderType: Clinical subtype
Name: Autosomal recessive Stickler syndrome
OrphaCode: 250984
DisorderType: Clinical subtype
Name: Waardenburg-Shah syndrome
OrphaCode: 897
DisorderType: Disease
Name: Noonan syndrome with multiple lentigines
OrphaCode: 500
DisorderType: Malformation syndrome
Name: Fraser syndrome
OrphaCode: 2052
DisorderType: Malformation syndrome
Name: Mitochondrial myopathy-lactic acidosis-deafness syndrome
OrphaCode: 2597
DisorderType: Disease
Name: Alström syndrome
OrphaCode: 64
DisorderType: Disease
Name: Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
OrphaCode: 1144
DisorderType: Malformation syndrome
Name: Lethal ataxia with deafness and optic atrophy
OrphaCode: 1187
DisorderType: Disease
Name: Ataxia-deafness-intellectual disability syndrome
OrphaCode: 1188
DisorderType: Malformation syndrome
Name: Burn-McKeown syndrome
OrphaCode: 1200
DisorderType: Malformation syndrome
Name: Maxillonasal dysplasia
OrphaCode: 1248
DisorderType: Malformation syndrome
Name: Cataract-ataxia-deafness syndrome
OrphaCode: 1368
DisorderType: Disease
Name: Richards-Rundle syndrome
OrphaCode: 1399
DisorderType: Malformation syndrome
Name: Xq21 microdeletion syndrome
OrphaCode: 1435
DisorderType: Malformation syndrome
Name: Corneal dystrophy-perceptive deafness syndrome
OrphaCode: 1490
DisorderType: Malformation syndrome
Name: Craniofacial-deafness-hand syndrome
OrphaCode: 1529
DisorderType: Malformation syndrome
Name: Ectodermal dysplasia-sensorineural deafness syndrome
OrphaCode: 1883
DisorderType: Malformation syndrome
Name: Cleft lip/palate-deafness-sacral lipoma syndrome
OrphaCode: 2003
DisorderType: Malformation syndrome
Name: Gingival fibromatosis-progressive deafness syndrome
OrphaCode: 2027
DisorderType: Malformation syndrome
Name: Hirschsprung disease-deafness-polydactyly syndrome
OrphaCode: 2155
DisorderType: Malformation syndrome
Name: Palmoplantar keratoderma-deafness syndrome
OrphaCode: 2202
DisorderType: Disease
Name: Ramos-Arroyo syndrome
OrphaCode: 1051
DisorderType: Malformation syndrome
Name: Hypoparathyroidism-sensorineural deafness-renal disease syndrome
OrphaCode: 2237
DisorderType: Malformation syndrome
Name: Keratoderma hereditarium mutilans
OrphaCode: 494
DisorderType: Disease
Name: Thickened earlobes-conductive deafness syndrome
OrphaCode: 2405
DisorderType: Malformation syndrome
Name: Lowe-Kohn-Cohen syndrome
OrphaCode: 2408
DisorderType: Malformation syndrome
Name: Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
OrphaCode: 2502
DisorderType: Malformation syndrome
Name: Conductive deafness-malformed external ear syndrome
OrphaCode: 3216
DisorderType: Malformation syndrome
Name: RNF13-related severe early-onset epileptic encephalopathy
OrphaCode: 544503
DisorderType: Disease
Name: Otopalatodigital syndrome type 2
OrphaCode: 90652
DisorderType: Malformation syndrome
Name: Oculoskeletodental syndrome
OrphaCode: 557003
DisorderType: Disease
Name: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
OrphaCode: 589856
DisorderType: Malformation syndrome
Name: Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
OrphaCode: 589442
DisorderType: Malformation syndrome
Name: Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
OrphaCode: 500144
DisorderType: Malformation syndrome
Name: Mitchell Syndrome
OrphaCode: 631248
DisorderType: Disease
Name: Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
OrphaCode: 457351
DisorderType: Malformation syndrome
Name: Gemignani syndrome
OrphaCode: 2074
DisorderType: Malformation syndrome
Name: Syndromic sensorineural deafness due to combined oxidative phosphorylation defect
OrphaCode: 457223
DisorderType: Disease
Name: Nathalie syndrome
OrphaCode: 2663
DisorderType: Malformation syndrome
Name: Otopalatodigital syndrome type 1
OrphaCode: 90650
DisorderType: Malformation syndrome
Name: Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
OrphaCode: 231720
DisorderType: Malformation syndrome
Name: MYH9-related disease
OrphaCode: 182050
DisorderType: Disease
Name: Microcephaly-deafness-intellectual disability syndrome
OrphaCode: 2533
DisorderType: Malformation syndrome
Name: Myoclonus-cerebellar ataxia-deafness syndrome
OrphaCode: 2589
DisorderType: Malformation syndrome
Name: N syndrome
OrphaCode: 2608
DisorderType: Malformation syndrome
Name: Nephropathy-deafness-hyperparathyroidism syndrome
OrphaCode: 2668
DisorderType: Malformation syndrome
Name: Nephrosis-deafness-urinary tract-digital malformations syndrome
OrphaCode: 2669
DisorderType: Malformation syndrome
Name: Neutropenia-monocytopenia-deafness syndrome
OrphaCode: 2690
DisorderType: Disease
Name: Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
OrphaCode: 2698
DisorderType: Disease
Name: Olivopontocerebellar atrophy-deafness syndrome
OrphaCode: 2732
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 2
OrphaCode: 2751
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 4
OrphaCode: 2753
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Spastic paraparesis-deafness syndrome
OrphaCode: 2815
DisorderType: Malformation syndrome
Name: Spastic paraplegia-nephritis-deafness syndrome
OrphaCode: 2820
DisorderType: Clinical syndrome
Name: Renal caliceal diverticuli-deafness syndrome
OrphaCode: 2838
DisorderType: Malformation syndrome
Name: Perrault syndrome
OrphaCode: 2855
DisorderType: Disease
Children: Name: Perrault syndrome type 1
OrphaCode: 642945
DisorderType: Clinical subtype
Name: Perrault syndrome type 2
OrphaCode: 642976
DisorderType: Clinical subtype
Name: Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
OrphaCode: 2866
DisorderType: Malformation syndrome
Name: Deaf blind hypopigmentation syndrome, Yemenite type
OrphaCode: 3214
DisorderType: Malformation syndrome
Name: Deafness-small bowel diverticulosis-neuropathy syndrome
OrphaCode: 3217
DisorderType: Disease
Name: Deafness-epiphyseal dysplasia-short stature syndrome
OrphaCode: 3218
DisorderType: Malformation syndrome
Name: Fountain syndrome
OrphaCode: 3219
DisorderType: Malformation syndrome
Name: Deafness-enamel hypoplasia-nail defects syndrome
OrphaCode: 3220
DisorderType: Malformation syndrome
Name: Athabaskan brainstem dysgenesis syndrome
OrphaCode: 69739
DisorderType: Disease
Name: Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
OrphaCode: 3224
DisorderType: Malformation syndrome
Name: Hearing loss-familial salivary gland insensitivity to aldosterone syndrome
OrphaCode: 3225
DisorderType: Malformation syndrome
Name: Deafness-oligodontia syndrome
OrphaCode: 3230
DisorderType: Malformation syndrome
Name: Deafness-onychodystrophy syndrome
OrphaCode: 3231
DisorderType: Clinical group
Children: Name: Autosomal dominant deafness-onychodystrophy syndrome
OrphaCode: 79499
DisorderType: Malformation syndrome
Name: DOORS syndrome
OrphaCode: 79500
DisorderType: Malformation syndrome
Name: Deafness-ear malformation-facial palsy syndrome
OrphaCode: 3232
DisorderType: Malformation syndrome
Name: Cochleosaccular degeneration-cataract syndrome
OrphaCode: 3233
DisorderType: Malformation syndrome
Name: Progressive deafness with stapes fixation
OrphaCode: 3235
DisorderType: Malformation syndrome
Name: Multiple synostoses syndrome
OrphaCode: 3237
DisorderType: Malformation syndrome
Name: Cardiospondylocarpofacial syndrome
OrphaCode: 3238
DisorderType: Malformation syndrome
Name: Deafness-vitiligo-achalasia syndrome
OrphaCode: 3239
DisorderType: Malformation syndrome
Name: Deafness-craniofacial syndrome
OrphaCode: 3241
DisorderType: Malformation syndrome
Name: Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
OrphaCode: 1192
DisorderType: Malformation syndrome
Name: Cataract-deafness-hypogonadism syndrome
OrphaCode: 1383
DisorderType: Malformation syndrome
Name: Caudal appendage-deafness syndrome
OrphaCode: 1123
DisorderType: Malformation syndrome
Name: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
OrphaCode: 1171
DisorderType: Disease
Name: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
OrphaCode: 3240
DisorderType: Disease
Name: Tietz syndrome
OrphaCode: 42665
DisorderType: Malformation syndrome
Name: Thiamine-responsive megaloblastic anemia syndrome
OrphaCode: 49827
DisorderType: Disease
Name: Lipodystrophy-intellectual disability-deafness syndrome
OrphaCode: 50811
DisorderType: Disease
Name: Branchiogenic deafness syndrome
OrphaCode: 50815
DisorderType: Malformation syndrome
Name: Mohr-Tranebjaerg syndrome
OrphaCode: 52368
DisorderType: Disease
Name: Branchiootic syndrome
OrphaCode: 52429
DisorderType: Malformation syndrome
Name: X-linked Charcot-Marie-Tooth disease
OrphaCode: 64747
DisorderType: Clinical group
Children: Name: X-linked Charcot-Marie-Tooth disease type 5
OrphaCode: 99014
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 1
OrphaCode: 101075
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 2
OrphaCode: 101076
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 3
OrphaCode: 101077
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 4
OrphaCode: 101078
DisorderType: Disease
Name: X-linked Charcot-Marie-Tooth disease type 6
OrphaCode: 352675
DisorderType: Disease
Name: Sensorineural hearing loss-early graying-essential tremor syndrome
OrphaCode: 66633
DisorderType: Disease
Name: Bosley-Salih-Alorainy syndrome
OrphaCode: 69737
DisorderType: Malformation syndrome
Name: Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
OrphaCode: 71267
DisorderType: Malformation syndrome
Name: Split hand-split foot-deafness syndrome
OrphaCode: 71271
DisorderType: Malformation syndrome
Name: Developmental malformations-deafness-dystonia syndrome
OrphaCode: 79107
DisorderType: Malformation syndrome
Name: Deafness-intellectual disability syndrome, Martin-Probst type
OrphaCode: 85321
DisorderType: Malformation syndrome
Name: Bartter syndrome type 4
OrphaCode: 89938
DisorderType: Clinical subtype
Name: Deafness with labyrinthine aplasia, microtia, and microdontia
OrphaCode: 90024
DisorderType: Malformation syndrome
Name: Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
OrphaCode: 90103
DisorderType: Malformation syndrome
Name: Deafness-hypogonadism syndrome
OrphaCode: 90646
DisorderType: Malformation syndrome
Name: Jervell and Lange-Nielsen syndrome
OrphaCode: 90647
DisorderType: Disease
Name: Charcot-Marie-Tooth disease type 1E
OrphaCode: 90658
DisorderType: Disease
Name: Deafness-infertility syndrome
OrphaCode: 94064
DisorderType: Malformation syndrome
Name: Riboflavin transporter deficiency
OrphaCode: 97229
DisorderType: Malformation syndrome
Children: Name: RFVT2-related riboflavin transporter deficiency
OrphaCode: 572543
DisorderType: Clinical subtype
Name: RFVT3-related riboflavin transporter deficiency
OrphaCode: 572550
DisorderType: Clinical subtype
Name: Neuropathy with hearing impairment
OrphaCode: 139512
DisorderType: Disease
Name: Stapes ankylosis with broad thumbs and toes
OrphaCode: 140917
DisorderType: Malformation syndrome
Name: Bilateral microtia-deafness-cleft palate syndrome
OrphaCode: 140963
DisorderType: Malformation syndrome
Name: Spondyloepiphyseal dysplasia, MacDermot type
OrphaCode: 163668
DisorderType: Malformation syndrome
Name: Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
OrphaCode: 163746
DisorderType: Disease
Name: Autosomal dominant otospondylomegaepiphyseal dysplasia
OrphaCode: 166100
DisorderType: Malformation syndrome
Name: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
OrphaCode: 500188
DisorderType: Malformation syndrome
Name: Combined oxidative phosphorylation defect type 25
OrphaCode: 447954
DisorderType: Disease
Name: Infantile multisystem neurologic-endocrine-pancreatic disease
OrphaCode: 456312
DisorderType: Disease
Name: Hereditary sensory neuropathy-deafness-dementia syndrome
OrphaCode: 456318
DisorderType: Disease
Name: Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
OrphaCode: 494439
DisorderType: Malformation syndrome
Name: DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
OrphaCode: 494444
DisorderType: Disease
Name: Split-foot malformation-mesoaxial polydactyly syndrome
OrphaCode: 488232
DisorderType: Malformation syndrome
Name: Auditory neuropathy-optic atrophy syndrome
OrphaCode: 542585
DisorderType: Disease
Name: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
OrphaCode: 543470
DisorderType: Disease
Name: Oculogastrointestinal-neurodevelopmental syndrome
OrphaCode: 611201
DisorderType: Malformation syndrome
Name: Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
OrphaCode: 611207
DisorderType: Clinical syndrome
Name: Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
OrphaCode: 603494
DisorderType: Malformation syndrome
Name: SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome
OrphaCode: 633014
DisorderType: Disease
Children: Name: SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome
OrphaCode: 633021
DisorderType: Clinical subtype
Name: SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome
OrphaCode: 633024
DisorderType: Clinical subtype
Name: H syndrome
OrphaCode: 168569
DisorderType: Malformation syndrome
Name: Sinoatrial node dysfunction and deafness
OrphaCode: 324321
DisorderType: Disease
Name: High myopia-sensorineural deafness syndrome
OrphaCode: 363396
DisorderType: Disease
Name: Wolf-Hirschhorn syndrome
OrphaCode: 280
DisorderType: Malformation syndrome
Name: Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome
OrphaCode: 662179
DisorderType: Malformation syndrome
Name: Adult-onset progressive leukoencephalopathy-early-onset deafness
OrphaCode: 652532
DisorderType: Disease
Name: PBX1-related congenital anomalies of kidney and urinary tract syndrome
OrphaCode: 656130
DisorderType: Disease
Name: Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome
OrphaCode: 659975
DisorderType: Malformation syndrome
Name: Difference of sex development
OrphaCode: 90771
DisorderType: Category
Children: Name: 46,XX difference of sex development
OrphaCode: 2982
DisorderType: Category
Children: Name: 46,XX difference of sex development induced by androgens excess
OrphaCode: 98078
DisorderType: Category
Children: Name: 46,XX difference of sex development induced by fetal androgens excess
OrphaCode: 90776
DisorderType: Category
Children: Name: Generalized glucocorticoid resistance syndrome
OrphaCode: 786
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
OrphaCode: 90791
DisorderType: Disease
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
OrphaCode: 90794
DisorderType: Disease
Children: Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
OrphaCode: 315306
DisorderType: Clinical subtype
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
OrphaCode: 315311
DisorderType: Clinical subtype
Name: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
OrphaCode: 90795
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
OrphaCode: 95699
DisorderType: Disease
Name: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
OrphaCode: 63269
DisorderType: Clinical subtype
Name: 46,XX difference of sex development induced by maternal-derived androgen
OrphaCode: 91144
DisorderType: Category
Children: Name: 46,XX difference of sex development induced by endogenous maternal-derived androgen
OrphaCode: 325093
DisorderType: Clinical group
Name: 46,XX difference of sex development induced by exogenous maternal-derived androgen
OrphaCode: 325099
DisorderType: Clinical group
Name: 46,XX difference of sex development induced by fetoplacental androgens excess
OrphaCode: 325061
DisorderType: Category
Children: Name: Aromatase deficiency
OrphaCode: 91
DisorderType: Disease
Name: 46,XX disorder of gonadal development
OrphaCode: 325055
DisorderType: Category
Children: Name: 46,XX gonadal dysgenesis
OrphaCode: 243
DisorderType: Malformation syndrome
Name: 46,XX ovotesticular difference of sex development
OrphaCode: 2138
DisorderType: Malformation syndrome
Name: 46,XX testicular difference of sex development
OrphaCode: 393
DisorderType: Malformation syndrome
Name: 46,XX ovarian dysgenesis-short stature syndrome
OrphaCode: 444048
DisorderType: Disease
Name: Syndrome with 46,XX difference of sex development
OrphaCode: 325109
DisorderType: Category
Children: Name: PAGOD syndrome
OrphaCode: 991
DisorderType: Malformation syndrome
Name: Perrault syndrome
OrphaCode: 2855
DisorderType: Disease
Children: Name: Perrault syndrome type 1
OrphaCode: 642945
DisorderType: Clinical subtype
Name: Perrault syndrome type 2
OrphaCode: 642976
DisorderType: Clinical subtype
Name: 46,XX difference of sex development-anorectal anomalies syndrome
OrphaCode: 2973
DisorderType: Malformation syndrome
Name: 46,XX difference of sex development-skeletal anomalies syndrome
OrphaCode: 2975
DisorderType: Malformation syndrome
Name: Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
OrphaCode: 85112
DisorderType: Disease
Name: Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
OrphaCode: 137631
DisorderType: Disease
Name: SERKAL syndrome
OrphaCode: 139466
DisorderType: Malformation syndrome
Name: Müllerian aplasia and hyperandrogenism
OrphaCode: 247768
DisorderType: Malformation syndrome
Name: 46,XY difference of sex development
OrphaCode: 98085
DisorderType: Category
Children: Name: Penile agenesis
OrphaCode: 49
DisorderType: Morphological anomaly
Name: Syndrome with 46,XY difference of sex development
OrphaCode: 98087
DisorderType: Category
Children: Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: Distal deletion 9p
OrphaCode: 1642
DisorderType: Malformation syndrome
Name: XY type gonadal dysgenesis-associated anomalies syndrome
OrphaCode: 1770
DisorderType: Malformation syndrome
Name: Difference of sex development-intellectual disability syndrome
OrphaCode: 2983
DisorderType: Disease
Name: Chondrodysplasia-difference of sex development syndrome
OrphaCode: 1422
DisorderType: Malformation syndrome
Name: X-linked alpha-thalassemia-intellectual disability syndrome
OrphaCode: 847
DisorderType: Malformation syndrome
Name: Campomelic dysplasia
OrphaCode: 140
DisorderType: Malformation syndrome
Name: PAGOD syndrome
OrphaCode: 991
DisorderType: Malformation syndrome
Name: Dysmorphism-short stature-deafness-difference of sex development syndrome
OrphaCode: 2282
DisorderType: Malformation syndrome
Name: Meacham syndrome
OrphaCode: 3097
DisorderType: Malformation syndrome
Name: Denys-Drash syndrome
OrphaCode: 220
DisorderType: Disease
Name: Frasier syndrome
OrphaCode: 347
DisorderType: Disease
Name: X-linked lissencephaly with abnormal genitalia
OrphaCode: 452
DisorderType: Malformation syndrome
Name: Familial adrenal hypoplasia with absent pituitary luteinizing hormone
OrphaCode: 95700
DisorderType: Disease
Name: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
OrphaCode: 168563
DisorderType: Malformation syndrome
Name: Sudden infant death-dysgenesis of the testes syndrome
OrphaCode: 168593
DisorderType: Malformation syndrome
Name: X-linked myotubular myopathy-abnormal genitalia syndrome
OrphaCode: 456328
DisorderType: Disease
Name: MIRAGE syndrome
OrphaCode: 494433
DisorderType: Disease
Name: Genitopalatocardiac syndrome
OrphaCode: 2075
DisorderType: Malformation syndrome
Name: 46,XY disorder of gonadal development
OrphaCode: 325118
DisorderType: Category
Children: Name: 46,XY complete gonadal dysgenesis
OrphaCode: 242
DisorderType: Malformation syndrome
Name: Testicular regression syndrome
OrphaCode: 983
DisorderType: Morphological anomaly
Name: 46,XY partial gonadal dysgenesis
OrphaCode: 251510
DisorderType: Malformation syndrome
Name: Testicular agenesis
OrphaCode: 325124
DisorderType: Morphological anomaly
Name: 46,XY ovotesticular difference of sex development
OrphaCode: 325345
DisorderType: Disease
Name: 46,XY difference of sex development of endocrine origin
OrphaCode: 325351
DisorderType: Category
Children: Name: Androgen insensitivity syndrome
OrphaCode: 754
DisorderType: Clinical group
Children: Name: Partial androgen insensitivity syndrome
OrphaCode: 90797
DisorderType: Disease
Name: Complete androgen insensitivity syndrome
OrphaCode: 99429
DisorderType: Disease
Name: Persistent Müllerian duct syndrome
OrphaCode: 2856
DisorderType: Malformation syndrome
Name: 46,XY difference of sex development due to impaired androgen production
OrphaCode: 325357
DisorderType: Category
Children: Name: Leydig cell hypoplasia
OrphaCode: 755
DisorderType: Disease
Children: Name: Leydig cell hypoplasia due to complete LH resistance
OrphaCode: 96265
DisorderType: Clinical subtype
Name: Leydig cell hypoplasia due to partial LH resistance
OrphaCode: 96266
DisorderType: Clinical subtype
Name: Leydig cell hypoplasia due to LHB deficiency
OrphaCode: 325448
DisorderType: Clinical subtype
Name: 46,XY difference of sex development due to a testosterone synthesis defect
OrphaCode: 90783
DisorderType: Category
Children: Name: 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect
OrphaCode: 90786
DisorderType: Category
Children: Name: Congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 90790
DisorderType: Disease
Children: Name: Classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325524
DisorderType: Clinical subtype
Name: Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325529
DisorderType: Clinical subtype
Name: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
OrphaCode: 90791
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
OrphaCode: 90793
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
OrphaCode: 95699
DisorderType: Disease
Name: 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
OrphaCode: 168558
DisorderType: Disease
Name: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
OrphaCode: 63269
DisorderType: Clinical subtype
Name: 46,XY difference of sex development due to testicular steroidogenesis defect
OrphaCode: 90787
DisorderType: Category
Children: Name: 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
OrphaCode: 752
DisorderType: Disease
Name: 46,XY difference of sex development due to isolated 17,20-lyase deficiency
OrphaCode: 90796
DisorderType: Disease
Name: 46,XY difference of sex development due to a cholesterol synthesis defect
OrphaCode: 325511
DisorderType: Category
Children: Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue
OrphaCode: 98086
DisorderType: Category
Children: Name: 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
OrphaCode: 753
DisorderType: Disease
Name: 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
OrphaCode: 443090
DisorderType: Category
Children: Name: 46,XY difference of sex development due to testicular 17,20-desmolase deficiency
OrphaCode: 443087
DisorderType: Disease
Name: 46,XY difference of sex development induced by maternal exposure to endocrine disruptors
OrphaCode: 325537
DisorderType: Category
Name: Sex chromosome difference of sex development
OrphaCode: 325546
DisorderType: Category
Children: Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: 48,XXYY syndrome
OrphaCode: 10
DisorderType: Malformation syndrome
Name: 45,X/46,XY mixed gonadal dysgenesis
OrphaCode: 1772
DisorderType: Malformation syndrome
Name: 48,XXXY syndrome
OrphaCode: 96263
DisorderType: Malformation syndrome
Name: 49,XXXXY syndrome
OrphaCode: 96264
DisorderType: Malformation syndrome
Name: Tetragametic chimerism
OrphaCode: 199310
DisorderType: Malformation syndrome
Name: Conjoined twins
OrphaCode: 647916
DisorderType: Malformation syndrome