Phenotype: Abnormality of the abdominal wall (HP:0004298)
Associated genes and diseases:
gene_symbol: SHOC2
disease_id: OMIM:607721
disease_name: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
gene_symbol: AMH
disease_id: ORPHA:2856
disease_name: Persistent Müllerian duct syndrome
PMDS
Persistent Müllerian derivatives
gene_symbol: AMH
disease_id: OMIM:261550
disease_name: PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II
gene_symbol: AMHR2
disease_id: ORPHA:2856
disease_name: Persistent Müllerian duct syndrome
PMDS
Persistent Müllerian derivatives
gene_symbol: AMHR2
disease_id: OMIM:261550
disease_name: PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II
gene_symbol: MED25
disease_id: OMIM:616449
disease_name: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME
gene_symbol: MED25
disease_id: ORPHA:464738
disease_name: Basel-Vanagaite-Smirin-Yosef syndrome
gene_symbol: STRA6
disease_id: OMIM:601186
disease_name: MICROPHTHALMIA, SYNDROMIC 9
gene_symbol: WNK3
disease_id: OMIM:309610
disease_name: PRIETO X-LINKED MENTAL RETARDATION SYNDROME
gene_symbol: ATP1A2
disease_id: OMIM:619602
disease_name: FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES
gene_symbol: DIS3L2
disease_id: ORPHA:2849
disease_name: Perlman syndrome
Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome
gene_symbol: P3H1
disease_id: OMIM:610915
disease_name: OSTEOGENESIS IMPERFECTA, TYPE VIII
gene_symbol: RIC1
disease_id: OMIM:618761
disease_name: CATIFA SYNDROME
gene_symbol: POLR1A
disease_id: OMIM:616462
disease_name: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
gene_symbol: DSE
disease_id: ORPHA:2953
disease_name: Musculocontractural Ehlers-Danlos syndrome
Adducted thumb-clubfoot syndrome
Distal arthrogryposis with peculiar facies and hydronephrosis
Dündar syndrome
Ehlers-Danlos syndrome, Kosho type
Musculocontractural EDS
mcEDS
gene_symbol: DSE
disease_id: OMIM:615539
disease_name: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2
gene_symbol: CLCN4
disease_id: ORPHA:485350
disease_name: CLCN4-related X-linked intellectual disability syndrome
Raynaud-Claes syndrome
gene_symbol: SMCHD1
disease_id: OMIM:603457
disease_name: BOSMA ARHINIA MICROPHTHALMIA SYNDROME
gene_symbol: SMCHD1
disease_id: ORPHA:2250
disease_name: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
Bosma arhinia-microphthalmia syndrome
Bosma-Henkin-Christiansen syndrome
gene_symbol: DDX6
disease_id: OMIM:618653
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES
gene_symbol: CTNND2
disease_id: ORPHA:281
disease_name: Monosomy 5p syndrome
Cri du chat syndrome
Deletion 5p
gene_symbol: SEMA5A
disease_id: ORPHA:281
disease_name: Monosomy 5p syndrome
Cri du chat syndrome
Deletion 5p
gene_symbol: TMEM107
disease_id: OMIM:617563
disease_name: OROFACIODIGITAL SYNDROME XVI
gene_symbol: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: PLD1
disease_id: OMIM:212093
disease_name: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL
gene_symbol: NAT8L
disease_id: OMIM:614063
disease_name: N-ACETYLASPARTATE DEFICIENCY
gene_symbol: PAFAH1B1
disease_id: ORPHA:217385
disease_name: 17p13.3 microduplication syndrome
17p13.3 duplication syndrome
Dup(17)(p13.3)
Trisomy 17p13.3
gene_symbol: YWHAE
disease_id: ORPHA:217385
disease_name: 17p13.3 microduplication syndrome
17p13.3 duplication syndrome
Dup(17)(p13.3)
Trisomy 17p13.3
gene_symbol: RPL10
disease_id: ORPHA:459070
disease_name: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
gene_symbol: RPL10
disease_id: OMIM:300998
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35
gene_symbol: FIBP
disease_id: OMIM:617107
disease_name: THAUVIN-ROBINET-FAIVRE SYNDROME
gene_symbol: FIBP
disease_id: ORPHA:500095
disease_name: Tall stature-intellectual disability-renal anomalies syndrome
Thauvin-Robinet-Faivre syndrome
gene_symbol: SLC37A4
disease_id: OMIM:619525
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw
gene_symbol: IFT56
disease_id: OMIM:619534
disease_name: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME
gene_symbol: FGFR1
disease_id: OMIM:166250
disease_name: OSTEOGLOPHONIC DYSPLASIA
gene_symbol: FGFR1
disease_id: ORPHA:2645
disease_name: Osteoglosphonic dysplasia
Osteoglophonic dwarfism
gene_symbol: NIPBL
disease_id: OMIM:122470
disease_name: CORNELIA DE LANGE SYNDROME 1
gene_symbol: GLB1
disease_id: OMIM:230500
disease_name: GM1-GANGLIOSIDOSIS, TYPE I
gene_symbol: GLB1
disease_id: OMIM:253010
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IVB
gene_symbol: LTBP1
disease_id: ORPHA:90349
disease_name: Autosomal recessive cutis laxa type 1
ARCL1
Autosomal recessive cutis laxa with severe systemic involvement
Autosomal recessive cutis laxa, pulmonary emphysema type
gene_symbol: LTBP1
disease_id: OMIM:619451
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE
gene_symbol: MEIS2
disease_id: ORPHA:261190
disease_name: Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
15q14 microdeletion syndrome
Del(15)(q14)
Monosomy 15q14
gene_symbol: CRELD1
disease_id: OMIM:620771
disease_name: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME
gene_symbol: DPH1
disease_id: ORPHA:459061
disease_name: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
Developmental delay-short stature-dysmorphic features-sparse hair syndrome
Loucks-Innes syndrome
gene_symbol: DPH2
disease_id: ORPHA:459061
disease_name: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
Developmental delay-short stature-dysmorphic features-sparse hair syndrome
Loucks-Innes syndrome
gene_symbol: DYRK1A
disease_id: ORPHA:268261
disease_name: DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
21q22.13q22.2 microdeletion syndrome
Del(21)(q22.13q22.2)
Monosomy 21q22.13q22.2
gene_symbol: KDM5B
disease_id: OMIM:618109
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65
gene_symbol: SET
disease_id: OMIM:618106
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58
gene_symbol: ADAMTS15
disease_id: OMIM:620545
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 12
gene_symbol: ERI1
disease_id: OMIM:620662
disease_name: HOXHA-ALIU SYNDROME
gene_symbol: BRF1
disease_id: ORPHA:444072
disease_name: Cerebellar-facial-dental syndrome
Cerebellofaciodental syndrome
gene_symbol: SMARCC2
disease_id: OMIM:618362
disease_name: COFFIN-SIRIS SYNDROME 8
gene_symbol: SLC10A7
disease_id: OMIM:618363
disease_name: SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS
gene_symbol: PYCR1
disease_id: OMIM:612940
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB
gene_symbol: PYCR1
disease_id: OMIM:614438
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB
gene_symbol: BRD4
disease_id: OMIM:620568
disease_name: CORNELIA DE LANGE SYNDROME 6
gene_symbol: DNAJB4
disease_id: OMIM:620326
disease_name: CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE
gene_symbol: ADAMTSL2
disease_id: ORPHA:1901
disease_name: Dermatosparaxis Ehlers-Danlos syndrome
Dermatosparaxis EDS
Ehlers-Danlos syndrome type 7C
Human dermatosparaxis EDS VIIC
dEDS
gene_symbol: PUF60
disease_id: ORPHA:508488
disease_name: 8q24.3 microdeletion syndrome
Del(8)(q24.3)
Deletion 8q24.3
Monosomy 8q24.3
gene_symbol: NPHP3
disease_id: OMIM:267010
disease_name: MECKEL SYNDROME, TYPE 7
gene_symbol: RNF13
disease_id: OMIM:618379
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73
gene_symbol: RNF13
disease_id: ORPHA:544503
disease_name: RNF13-related severe early-onset epileptic encephalopathy
RNF13-related severe EOEE
gene_symbol: UBA1
disease_id: OMIM:301830
disease_name: SPINAL MUSCULAR ATROPHY, X-LINKED 2
gene_symbol: DPP9
disease_id: OMIM:620331
disease_name: HATIPOGLU IMMUNODEFICIENCY SYNDROME
gene_symbol: TAF4
disease_id: OMIM:620450
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73
gene_symbol: HSD17B3
disease_id: ORPHA:752
disease_name: 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
17-beta-hydroxysteroid dehydrogenase 3 deficiency
17-ketoreductase deficiency
17-ketosteroidreductase deficiency
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
gene_symbol: PTDSS1
disease_id: OMIM:151050
disease_name: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
gene_symbol: PTDSS1
disease_id: ORPHA:2658
disease_name: Lenz-Majewski hyperostotic dwarfism
gene_symbol: COL1A2
disease_id: OMIM:225320
disease_name: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE
gene_symbol: COL1A2
disease_id: ORPHA:230851
disease_name: Cardiac-valvular Ehlers-Danlos syndrome
Cardiac-valvular EDS
cvEDS
gene_symbol: COL1A2
disease_id: ORPHA:1899
disease_name: Arthrochalasia Ehlers-Danlos syndrome
Arthrochalasia EDS
Arthrochalasis multiplex congenita
EDS VII
Ehlers-Danlos syndrome type 7
Ehlers-Danlos syndrome, arthrochalasia type
aEDS
gene_symbol: ZEB1
disease_id: OMIM:609141
disease_name: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3
gene_symbol: CWC27
disease_id: ORPHA:166035
disease_name: Brachydactyly-short stature-retinitis pigmentosa syndrome
gene_symbol: MBTPS1
disease_id: OMIM:618392
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE
gene_symbol: TNRC6B
disease_id: OMIM:619243
disease_name: GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES
gene_symbol: GDF11
disease_id: OMIM:619122
disease_name: VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES
gene_symbol: CUL4B
disease_id: ORPHA:85293
disease_name: X-linked intellectual disability, Cabezas type
Cabezas syndrome
gene_symbol: GNS
disease_id: OMIM:252940
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IIID
gene_symbol: PIK3R1
disease_id: ORPHA:3163
disease_name: SHORT syndrome
Lipodystrophy-Rieger anomaly-diabetes syndrome
Rieger anomaly-partial lipodystrophy syndrome
gene_symbol: PIK3R1
disease_id: OMIM:269880
disease_name: SHORT SYNDROME
gene_symbol: WASHC5
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: CCDC22
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: VPS35L
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: DPYSL5
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: SKIC3
disease_id: ORPHA:84064
disease_name: Syndromic diarrhea
Phenotypic diarrhea
SD/THE
Syndromic diarrhea/Tricho-hepato-enteric syndrome
Tricho-hepato-enteric syndrome
Trichohepatoenteric syndrome
gene_symbol: SKIC2
disease_id: ORPHA:84064
disease_name: Syndromic diarrhea
Phenotypic diarrhea
SD/THE
Syndromic diarrhea/Tricho-hepato-enteric syndrome
Tricho-hepato-enteric syndrome
Trichohepatoenteric syndrome
gene_symbol: PPP2R1A
disease_id: ORPHA:457284
disease_name: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
gene_symbol: HOXC13
disease_id: OMIM:614931
disease_name: ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE
gene_symbol: MDFIC
disease_id: OMIM:620014
disease_name: LYMPHATIC MALFORMATION 12
gene_symbol: SERPINH1
disease_id: OMIM:613848
disease_name: OSTEOGENESIS IMPERFECTA, TYPE X
gene_symbol: KMT2D
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: KDM6A
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: BMPER
disease_id: OMIM:608022
disease_name: DIAPHANOSPONDYLODYSOSTOSIS
gene_symbol: NDUFA8
disease_id: OMIM:619272
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37
gene_symbol: LRPPRC
disease_id: OMIM:220111
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5
gene_symbol: GRIN2B
disease_id: OMIM:613970
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES
gene_symbol: WDR35
disease_id: OMIM:613610
disease_name: CRANIOECTODERMAL DYSPLASIA 2
gene_symbol: MTFMT
disease_id: OMIM:614947
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
gene_symbol: NFIA
disease_id: OMIM:613735
disease_name: BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS
gene_symbol: PLOD2
disease_id: OMIM:609220
disease_name: BRUCK SYNDROME 2
gene_symbol: ARPC4
disease_id: OMIM:620141
disease_name: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES
gene_symbol: GNPAT
disease_id: OMIM:222765
disease_name: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2
gene_symbol: BCR
disease_id: ORPHA:261330
disease_name: Distal 22q11.2 microdeletion syndrome
Distal del(22)(q11.2)
Distal monosomy 22q11.2
gene_symbol: CRKL
disease_id: ORPHA:261330
disease_name: Distal 22q11.2 microdeletion syndrome
Distal del(22)(q11.2)
Distal monosomy 22q11.2
gene_symbol: MAPK1
disease_id: ORPHA:261330
disease_name: Distal 22q11.2 microdeletion syndrome
Distal del(22)(q11.2)
Distal monosomy 22q11.2
gene_symbol: RAB3GAP2
disease_id: OMIM:212720
disease_name: MARTSOLF SYNDROME
gene_symbol: RPS6KA3
disease_id: OMIM:303600
disease_name: COFFIN-LOWRY SYNDROME
gene_symbol: RPS6KA3
disease_id: ORPHA:192
disease_name: Coffin-Lowry syndrome
CLS
gene_symbol: G6PC3
disease_id: OMIM:612541
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE
gene_symbol: ARID1A
disease_id: OMIM:614607
disease_name: COFFIN-SIRIS SYNDROME 2
gene_symbol: SATB2
disease_id: OMIM:612313
disease_name: GLASS SYNDROME
gene_symbol: SIN3A
disease_id: OMIM:613406
disease_name: WITTEVEEN-KOLK SYNDROME
gene_symbol: ABCD4
disease_id: OMIM:614857
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME
gene_symbol: BUB1
disease_id: OMIM:620183
disease_name: MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: LDHD
disease_id: OMIM:245450
disease_name: D-LACTIC ACIDURIA WITH GOUT
gene_symbol: FARSB
disease_id: OMIM:613658
disease_name: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1
gene_symbol: TMCO1
disease_id: OMIM:213980
disease_name: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME
gene_symbol: PIGY
disease_id: OMIM:616809
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6
gene_symbol: TXNL4A
disease_id: OMIM:608572
disease_name: BURN-MCKEOWN SYNDROME
gene_symbol: MAF
disease_id: ORPHA:1272
disease_name: Aymé-Gripp syndrome
Brachycephaly-deafness-cataract-intellectual disability syndrome
Brachycephaly-hearing loss-cataract-intellectual disability syndrome
Fine-Lubinsky syndrome
gene_symbol: OFD1
disease_id: OMIM:300209
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2
gene_symbol: PLAG1
disease_id: ORPHA:397590
disease_name: Silver-Russell syndrome due to a point mutation
gene_symbol: HMGA2
disease_id: ORPHA:397590
disease_name: Silver-Russell syndrome due to a point mutation
gene_symbol: PIEZO2
disease_id: ORPHA:1154
disease_name: Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
Distal arthrogryposis type 5
Distal arthrogryposis type IIB
Distal arthrogryposis with ophthalmoplegia
Oculomelic amyoplasia
gene_symbol: PIEZO2
disease_id: OMIM:248700
disease_name: MARDEN-WALKER SYNDROME
gene_symbol: SMAD4
disease_id: ORPHA:2588
disease_name: Myhre syndrome
Facial dysmorphism-intellectual disability-short stature-deafness syndrome
Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome
Myhre-LAPS syndrome
Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome
gene_symbol: SMAD4
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: ODC1
disease_id: ORPHA:544488
disease_name: Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
Bachmann-Bupp syndrome
Ornithine decarboxylase deficiency
gene_symbol: CDC42
disease_id: OMIM:616737
disease_name: TAKENOUCHI-KOSAKI SYNDROME
gene_symbol: CDC42
disease_id: ORPHA:487796
disease_name: Takenouchi-Kosaki syndrome
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
gene_symbol: GDF1
disease_id: OMIM:208530
disease_name: RIGHT ATRIAL ISOMERISM
gene_symbol: IRX5
disease_id: OMIM:611174
disease_name: HAMAMY SYNDROME
gene_symbol: IFT122
disease_id: OMIM:218330
disease_name: CRANIOECTODERMAL DYSPLASIA 1
gene_symbol: AR
disease_id: OMIM:300068
disease_name: ANDROGEN INSENSITIVITY SYNDROME
gene_symbol: SLC5A6
disease_id: OMIM:619903
disease_name: PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE
gene_symbol: GATA4
disease_id: OMIM:615542
disease_name: TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE
gene_symbol: INPP5E
disease_id: ORPHA:1454
disease_name: Joubert syndrome with hepatic defect
COACH syndrome
Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
Gentile syndrome
JS-H
Joubert syndrome with congenital hepatic fibrosis
gene_symbol: TMEM67
disease_id: ORPHA:1454
disease_name: Joubert syndrome with hepatic defect
COACH syndrome
Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
Gentile syndrome
JS-H
Joubert syndrome with congenital hepatic fibrosis
gene_symbol: RPGRIP1L
disease_id: ORPHA:1454
disease_name: Joubert syndrome with hepatic defect
COACH syndrome
Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
Gentile syndrome
JS-H
Joubert syndrome with congenital hepatic fibrosis
gene_symbol: CC2D2A
disease_id: ORPHA:1454
disease_name: Joubert syndrome with hepatic defect
COACH syndrome
Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
Gentile syndrome
JS-H
Joubert syndrome with congenital hepatic fibrosis
gene_symbol: FAT4
disease_id: OMIM:615546
disease_name: VAN MALDERGEM SYNDROME 2
gene_symbol: ELOVL4
disease_id: OMIM:614457
disease_name: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION
gene_symbol: FLI1
disease_id: ORPHA:2308
disease_name: Jacobsen syndrome
11q terminal deletion syndrome
Chromosome 11q deletion syndrome
Del(11)(q23.3)
Del(11)(qter)
Distal deletion 11q
Distal monosomy 11q
Monosomy 11qter
Telomeric deletion 11q
gene_symbol: CTCF
disease_id: ORPHA:363611
disease_name: CTCF-related neurodevelopmental disorder
gene_symbol: GALNS
disease_id: OMIM:253000
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IVA
gene_symbol: TRIM33
disease_id: ORPHA:2412
disease_name: Dislocation of the hip-dysmorphism syndrome
Collins-Pope syndrome
gene_symbol: AP1S2
disease_id: ORPHA:1568
disease_name: X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
Pettigrew Syndrome
gene_symbol: TASP1
disease_id: OMIM:618950
disease_name: SULEIMAN-EL-HATTAB SYNDROME
gene_symbol: ATP6V1A
disease_id: ORPHA:357074
disease_name: Autosomal recessive cutis laxa type 2, classic type
ARCL2, Debré type
ARCL2, classic type
Autosomal recessive cutis laxa type 2, Debré type
gene_symbol: ATP6V1A
disease_id: OMIM:617403
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID
gene_symbol: ATP6V1E1
disease_id: ORPHA:357074
disease_name: Autosomal recessive cutis laxa type 2, classic type
ARCL2, Debré type
ARCL2, classic type
Autosomal recessive cutis laxa type 2, Debré type
gene_symbol: XRCC4
disease_id: OMIM:616541
disease_name: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
gene_symbol: GNE
disease_id: OMIM:269921
disease_name: SIALURIA
gene_symbol: DLX4
disease_id: OMIM:616788
disease_name: OROFACIAL CLEFT 15
gene_symbol: POLR2A
disease_id: OMIM:618603
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES
gene_symbol: WDR19
disease_id: OMIM:614376
disease_name: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
gene_symbol: BRAT1
disease_id: OMIM:614498
disease_name: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
gene_symbol: ACTA2
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: PRKG1
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: FOXE3
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: MAT2A
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: HEY2
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: ADNP
disease_id: ORPHA:404448
disease_name: ADNP syndrome
ADNP-related syndromic intellectual disability-autism spectrum disorder
HVDAS
Helsmoortel-Van Der Aa Syndrome
gene_symbol: FBXL4
disease_id: OMIM:615471
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
gene_symbol: FREM2
disease_id: ORPHA:2052
disease_name: Fraser syndrome
Cryptophthalmos-syndactyly syndrome
gene_symbol: GRIP1
disease_id: ORPHA:2052
disease_name: Fraser syndrome
Cryptophthalmos-syndactyly syndrome
gene_symbol: TRPV6
disease_id: OMIM:618188
disease_name: HYPERPARATHYROIDISM, TRANSIENT NEONATAL
gene_symbol: LTBP4
disease_id: OMIM:613177
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC
gene_symbol: B3GLCT
disease_id: ORPHA:709
disease_name: Peters plus syndrome
Krause-Kivlin syndrome
Krause-van Schooneveld-Kivlin syndrome
Peters anomaly with short limb dwarfism
gene_symbol: B3GLCT
disease_id: OMIM:261540
disease_name: PETERS-PLUS SYNDROME
gene_symbol: DNMT3A
disease_id: ORPHA:404443
disease_name: Tatton-Brown-Rahman syndrome
DNMT3A-related overgrowth syndrome
Tatton-Brown-Rahman overgrowth syndrome
gene_symbol: DNMT3A
disease_id: OMIM:615879
disease_name: TATTON-BROWN-RAHMAN SYNDROME
gene_symbol: NEU1
disease_id: ORPHA:93399
disease_name: Juvenile sialidosis type 2
gene_symbol: NEU1
disease_id: ORPHA:93400
disease_name: Congenital sialidosis type 2
gene_symbol: NSD1
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
gene_symbol: APC2
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
gene_symbol: MSX1
disease_id: ORPHA:199302
disease_name: Isolated cleft lip
gene_symbol: NECTIN1
disease_id: ORPHA:199302
disease_name: Isolated cleft lip
gene_symbol: TP63
disease_id: ORPHA:199302
disease_name: Isolated cleft lip
gene_symbol: TP63
disease_id: ORPHA:93930
disease_name: Bladder exstrophy
Classic exstrophy of the bladder
gene_symbol: IRF6
disease_id: ORPHA:199302
disease_name: Isolated cleft lip
gene_symbol: MAN2B1
disease_id: ORPHA:309282
disease_name: Alpha-mannosidosis, infantile form
Lysosomal alpha-D-mannosidase deficiency, infantile form
gene_symbol: PAX8
disease_id: OMIM:218700
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2
gene_symbol: PAX8
disease_id: ORPHA:95713
disease_name: Athyreosis
gene_symbol: PAX8
disease_id: ORPHA:95712
disease_name: Thyroid ectopia
gene_symbol: MID1
disease_id: OMIM:300000
disease_name: OPITZ GBBB SYNDROME, TYPE I
gene_symbol: MID1
disease_id: ORPHA:2745
disease_name: Opitz GBBB syndrome
Hypertelorism-hypospadias syndrome
Hypertelorism-oesophageal abnormality-hypospadias syndrome
Hypospadias-dysphagia syndrome
Opitz BBB/G syndrome
Opitz BBBG syndrome
Opitz G/BBB syndrome
Opitz-Frias syndrome
gene_symbol: IGF2
disease_id: ORPHA:231144
disease_name: Silver-Russell syndrome due to 11p15 microduplication
gene_symbol: H19
disease_id: ORPHA:231144
disease_name: Silver-Russell syndrome due to 11p15 microduplication
gene_symbol: KIF7
disease_id: OMIM:200990
disease_name: ACROCALLOSAL SYNDROME
gene_symbol: GLI3
disease_id: ORPHA:380
disease_name: Greig cephalopolysyndactyly syndrome
GCPS
gene_symbol: GLI3
disease_id: ORPHA:672
disease_name: Pallister-Hall syndrome
Hypothalamic hamartoblastoma syndrome
gene_symbol: GLI3
disease_id: OMIM:175700
disease_name: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
gene_symbol: DVL1
disease_id: OMIM:616331
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
gene_symbol: DVL1
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: DVL1
disease_id: OMIM:180700
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
gene_symbol: GZF1
disease_id: OMIM:617662
disease_name: JOINT LAXITY, SHORT STATURE, AND MYOPIA
gene_symbol: GZF1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: CHAMP1
disease_id: OMIM:616579
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
gene_symbol: ACTG2
disease_id: ORPHA:2604
disease_name: Familial visceral myopathy
Familial hollow visceral myopathy
Hereditary hollow visceral myopathy
Megaduodenum and/or megacystis
gene_symbol: ACTG2
disease_id: ORPHA:2241
disease_name: Megacystis-microcolon-intestinal hypoperistalsis syndrome
Berdon syndrome
MMIHS
Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome
gene_symbol: SPECC1L
disease_id: ORPHA:1519
disease_name: SPECC1L-related hypertelorism syndrome
Brachycephalofrontonasal dysplasia
Teebi hypertelorism syndrome
gene_symbol: KCNJ8
disease_id: ORPHA:1517
disease_name: Cantú syndrome
Congenital hypertrichosis-acromegaloid facial features spectrum
Congenital hypertrichosis-coarse facial features spectrum
Hypertrichotic osteochondrodysplasia
gene_symbol: ABCC9
disease_id: ORPHA:1517
disease_name: Cantú syndrome
Congenital hypertrichosis-acromegaloid facial features spectrum
Congenital hypertrichosis-coarse facial features spectrum
Hypertrichotic osteochondrodysplasia
gene_symbol: ABCC9
disease_id: OMIM:239850
disease_name: CANTU SYNDROME
gene_symbol: GNPTAB
disease_id: OMIM:252500
disease_name: MUCOLIPIDOSIS II ALPHA/BETA
gene_symbol: GNPTAB
disease_id: ORPHA:423461
disease_name: Mucolipidosis type III alpha/beta
ML 3 alpha/beta
ML III alpha/beta
Mucolipidosis type 3 alpha/beta
gene_symbol: GNPTAB
disease_id: ORPHA:576
disease_name: Mucolipidosis type II
I-cell disease
Mucolipidosis type II alpha/beta
N-acetylglucosamine 1-phosphotransferase deficiency
gene_symbol: CHD7
disease_id: ORPHA:138
disease_name: CHARGE syndrome
CHARGE association
Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome
Hall-Hittner syndrome
gene_symbol: CHD7
disease_id: OMIM:214800
disease_name: CHARGE SYNDROME
gene_symbol: SEMA3E
disease_id: ORPHA:138
disease_name: CHARGE syndrome
CHARGE association
Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome
Hall-Hittner syndrome
gene_symbol: COX11
disease_id: OMIM:620275
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23
gene_symbol: TSHR
disease_id: ORPHA:90673
disease_name: Hypothyroidism due to TSH receptor mutations
gene_symbol: TSHR
disease_id: ORPHA:95713
disease_name: Athyreosis
gene_symbol: TSHB
disease_id: ORPHA:90674
disease_name: Isolated thyroid-stimulating hormone deficiency
Isolated TSH deficiency
Isolated thyrotropin deficiency
gene_symbol: TSHB
disease_id: OMIM:275100
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4
gene_symbol: SLC25A24
disease_id: ORPHA:2963
disease_name: Progeroid syndrome, Petty type
Fontaine progeroid syndrome
Petty syndrome
Petty-Laxova-Wiedemann syndrome
gene_symbol: SLC25A24
disease_id: ORPHA:2095
disease_name: Gorlin-Chaudhry-Moss syndrome
Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome
Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome
Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome
GCM syndrome
gene_symbol: SLC25A24
disease_id: OMIM:612289
disease_name: FONTAINE PROGEROID SYNDROME
gene_symbol: CHRNG
disease_id: OMIM:265000
disease_name: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
gene_symbol: CHRNG
disease_id: ORPHA:2990
disease_name: Autosomal recessive multiple pterygium syndrome
Autosomal recessive non-lethal multiple pterygium syndrome
EVMPS
Escobar syndrome
Escobar variant multiple pterygium syndrome
gene_symbol: ARID1B
disease_id: OMIM:135900
disease_name: COFFIN-SIRIS SYNDROME 1
gene_symbol: RIN2
disease_id: OMIM:613075
disease_name: MACS SYNDROME
gene_symbol: RIN2
disease_id: ORPHA:217335
disease_name: RIN2 syndrome
MACS syndrome
Macrocephaly-alopecia-cutis laxa-scoliosis syndrome
RIN2 deficiency
Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome
gene_symbol: NSDHL
disease_id: OMIM:308050
disease_name: CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
gene_symbol: ATP6V0A2
disease_id: ORPHA:2834
disease_name: Wrinkly skin syndrome
WSS
Wrinkled skin syndrome
gene_symbol: ATP6V0A2
disease_id: OMIM:278250
disease_name: WRINKLY SKIN SYNDROME
gene_symbol: NOTCH2
disease_id: OMIM:102500
disease_name: HAJDU-CHENEY SYNDROME
gene_symbol: NOTCH2
disease_id: ORPHA:955
disease_name: Hajdu-Cheney syndrome
Acroosteolysis dominant type
Acroosteolysis with osteoporosis and changes in skull and mandible
Arthrodentoosteodysplasia
Cheney syndrome
gene_symbol: MED12
disease_id: ORPHA:93932
disease_name: FG syndrome type 1
Opitz-Kaveggia syndrome
gene_symbol: MED12
disease_id: OMIM:305450
disease_name: OPITZ-KAVEGGIA SYNDROME
gene_symbol: MED12
disease_id: OMIM:301068
disease_name: HARDIKAR SYNDROME
gene_symbol: NXN
disease_id: ORPHA:1507
disease_name: Autosomal recessive Robinow syndrome
COVESDEM syndrome
Costovertebral segmentation defect-mesomelia syndrome
RRS
gene_symbol: ROR2
disease_id: ORPHA:1507
disease_name: Autosomal recessive Robinow syndrome
COVESDEM syndrome
Costovertebral segmentation defect-mesomelia syndrome
RRS
gene_symbol: ROR2
disease_id: OMIM:268310
disease_name: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1
gene_symbol: BRCA1
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: MAD2L2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: XRCC2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: UBE2T
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: BRCA2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCL
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCD2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCA
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCB
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCC
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCE
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCF
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCG
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RAD51
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RAD51C
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RFWD3
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: BRIP1
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCM
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: PALB2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: SLX4
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: ERCC4
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCI
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: ISL1
disease_id: ORPHA:93930
disease_name: Bladder exstrophy
Classic exstrophy of the bladder
gene_symbol: SMARCB1
disease_id: OMIM:614608
disease_name: COFFIN-SIRIS SYNDROME 3
gene_symbol: GJA1
disease_id: ORPHA:2710
disease_name: Oculodentodigital dysplasia
Meyer-Schwickerath syndrome
Meyer-Schwickerath-Weyers syndrome
ODDD syndrome
ODOD syndrome
Oculo-dento-digital dysplasia
Oculodentodigital syndrome
Oculodentodigitalis dysplasia
Oculodentoosseous dysplasia
Osseous-oculo-dental dysplasia
gene_symbol: AGPAT2
disease_id: OMIM:608594
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1
gene_symbol: COL1A1
disease_id: ORPHA:287
disease_name: Classical Ehlers-Danlos syndrome
Classical EDS
cEDS
gene_symbol: COL5A1
disease_id: ORPHA:287
disease_name: Classical Ehlers-Danlos syndrome
Classical EDS
cEDS
gene_symbol: COL5A1
disease_id: OMIM:130000
disease_name: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
gene_symbol: COL5A2
disease_id: ORPHA:287
disease_name: Classical Ehlers-Danlos syndrome
Classical EDS
cEDS
gene_symbol: TBX1
disease_id: OMIM:188400
disease_name: DIGEORGE SYNDROME
gene_symbol: TBX1
disease_id: OMIM:192430
disease_name: VELOCARDIOFACIAL SYNDROME
gene_symbol: TBX1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: COL3A1
disease_id: ORPHA:286
disease_name: Vascular Ehlers-Danlos syndrome
Arterial-ecchymotic EDS
EDS IV
Ehlers-Danlos syndrome type 4
Sack-Barabas syndrome
Vascular EDS
vEDS
gene_symbol: COL3A1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: COL3A1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: EED
disease_id: OMIM:617561
disease_name: COHEN-GIBSON SYNDROME
gene_symbol: SEC31A
disease_id: OMIM:618651
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES
gene_symbol: TMEM70
disease_id: OMIM:614052
disease_name: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: PRDM5
disease_id: OMIM:614170
disease_name: BRITTLE CORNEA SYNDROME 2
gene_symbol: AUTS2
disease_id: ORPHA:352490
disease_name: Autism spectrum disorder due to AUTS2 deficiency
ASD due to AUTS2 deficiency
AUTS2 syndrome
gene_symbol: AUTS2
disease_id: OMIM:615834
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
gene_symbol: EHMT1
disease_id: OMIM:610253
disease_name: KLEEFSTRA SYNDROME 1
gene_symbol: EHMT1
disease_id: ORPHA:261652
disease_name: Kleefstra syndrome due to a point mutation
gene_symbol: UHRF1
disease_id: ORPHA:2268
disease_name: ICF syndrome
Immunodeficiency-centromeric instability-facial anomalies syndrome
Immunodeficiency-centromeric instability-facial dysmorphism syndrome
gene_symbol: HELLS
disease_id: ORPHA:2268
disease_name: ICF syndrome
Immunodeficiency-centromeric instability-facial anomalies syndrome
Immunodeficiency-centromeric instability-facial dysmorphism syndrome
gene_symbol: DNMT3B
disease_id: ORPHA:2268
disease_name: ICF syndrome
Immunodeficiency-centromeric instability-facial anomalies syndrome
Immunodeficiency-centromeric instability-facial dysmorphism syndrome
gene_symbol: CDCA7
disease_id: ORPHA:2268
disease_name: ICF syndrome
Immunodeficiency-centromeric instability-facial anomalies syndrome
Immunodeficiency-centromeric instability-facial dysmorphism syndrome
gene_symbol: ZBTB24
disease_id: ORPHA:2268
disease_name: ICF syndrome
Immunodeficiency-centromeric instability-facial anomalies syndrome
Immunodeficiency-centromeric instability-facial dysmorphism syndrome
gene_symbol: CDH11
disease_id: ORPHA:1299
disease_name: Branchioskeletogenital syndrome
BSG syndrome
Elsahy-Waters syndrome
gene_symbol: MEGF8
disease_id: OMIM:614976
disease_name: CARPENTER SYNDROME 2
gene_symbol: MEGF8
disease_id: ORPHA:65759
disease_name: Carpenter syndrome
ACPS2
Acrocephalopolysyndactyly type 2
gene_symbol: BMP1
disease_id: OMIM:614856
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XIII
gene_symbol: LRP2
disease_id: ORPHA:2143
disease_name: Donnai-Barrow syndrome
DBS/FOAR syndrome
Diaphragmatic hernia-exomphalos-hypertelorism syndrome
Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome
Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome
FOAR syndrome
Facio-oculo-acoustico-renal syndrome
Holmes-Schepens syndrome
Syndrome of ocular and facial anomalies, telecanthus and deafness
Syndrome of ocular and facial anomalies, telecanthus and hearing loss
gene_symbol: LRP2
disease_id: OMIM:222448
disease_name: DONNAI-BARROW SYNDROME
gene_symbol: LRP2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: IDUA
disease_id: OMIM:607014
disease_name: HURLER SYNDROME
gene_symbol: IDUA
disease_id: OMIM:607015
disease_name: HURLER-SCHEIE SYNDROME
gene_symbol: AGA
disease_id: ORPHA:93
disease_name: Aspartylglucosaminuria
Aspartylglucosaminidase deficiency
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: AEBP1
disease_id: ORPHA:536532
disease_name: Classical-like Ehlers-Danlos syndrome type 2
AEBP1-related EDS
AEBP1-related Ehlers-Danlos syndrome
Classical-like EDS type 2
clEDS type 2
gene_symbol: AEBP1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: AEBP1
disease_id: OMIM:618000
disease_name: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2
gene_symbol: AEBP1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: EFNB1
disease_id: OMIM:304110
disease_name: CRANIOFRONTONASAL SYNDROME
gene_symbol: SLC26A2
disease_id: OMIM:600972
disease_name: ACHONDROGENESIS, TYPE IB
gene_symbol: SLC26A2
disease_id: ORPHA:93298
disease_name: Achondrogenesis type 1B
Achondrogenesis, Parenti-Fraccaro type
gene_symbol: SLC26A2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: OCRL
disease_id: OMIM:300555
disease_name: DENT DISEASE 2
gene_symbol: OCRL
disease_id: ORPHA:534
disease_name: Oculocerebrorenal syndrome of Lowe
Lowe disease
Lowe oculo-cerebro-renal dystrophy
Lowe oculo-cerebro-renal syndrome
Lowe oculocerebrorenal dystrophy
Lowe syndrome
OCRL
Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
gene_symbol: SUZ12
disease_id: OMIM:618786
disease_name: IMAGAWA-MATSUMOTO SYNDROME
gene_symbol: POGZ
disease_id: OMIM:616364
disease_name: WHITE-SUTTON SYNDROME
gene_symbol: FOCAD
disease_id: OMIM:619991
disease_name: LIVER DISEASE, SEVERE CONGENITAL
gene_symbol: PROP1
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: LHX4
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: LHX3
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: POU1F1
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: HESX1
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: DVL3
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: WNT5A
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: WNT5A
disease_id: OMIM:180700
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
gene_symbol: FZD2
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: DEPDC5
disease_id: OMIM:620504
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111
gene_symbol: GATA6
disease_id: ORPHA:2255
disease_name: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
PACHD
Pancreatic agenesis and congenital heart defects syndrome
Yorifuji-Okuno syndrome
gene_symbol: GATA6
disease_id: OMIM:600001
disease_name: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
gene_symbol: STX1A
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: CLIP2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: DNAJC30
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: FKBP6
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: RFC2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2I
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: LIMK1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2IRD1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: VPS37D
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: METTL27
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: BUD23
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: EIF4H
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2IRD2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: TBL2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: NCF1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: TMEM270
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: BAZ1B
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: ELN
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: ELN
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: SNIP1
disease_id: OMIM:614501
disease_name: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM
gene_symbol: PRKG2
disease_id: OMIM:619636
disease_name: ACROMESOMELIC DYSPLASIA 4
gene_symbol: H4C3
disease_id: OMIM:619758
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1
gene_symbol: IKBKG
disease_id: ORPHA:464
disease_name: Incontinentia pigmenti
Bloch-Siemens syndrome
Bloch-Sulzberger syndrome
gene_symbol: GUSB
disease_id: ORPHA:584
disease_name: Mucopolysaccharidosis type 7
Beta-glucuronidase deficiency
MPS7
MPSVII
Mucopolysaccharidosis type VII
Sly disease
gene_symbol: GUSB
disease_id: OMIM:253220
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE VII
gene_symbol: FBN1
disease_id: OMIM:608328
disease_name: WEILL-MARCHESANI SYNDROME 2
gene_symbol: FBN1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FBN1
disease_id: ORPHA:2462
disease_name: Shprintzen-Goldberg syndrome
Marfanoid craniosynostosis syndrome
SGS
gene_symbol: FBN1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: C1R
disease_id: OMIM:130080
disease_name: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1
gene_symbol: KMT2C
disease_id: ORPHA:261652
disease_name: Kleefstra syndrome due to a point mutation
gene_symbol: DUOX2
disease_id: ORPHA:226316
disease_name: Genetic transient congenital hypothyroidism
gene_symbol: DUOX2
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: DGCR8
disease_id: OMIM:192430
disease_name: VELOCARDIOFACIAL SYNDROME
gene_symbol: DGCR6
disease_id: OMIM:192430
disease_name: VELOCARDIOFACIAL SYNDROME
gene_symbol: ESS2
disease_id: OMIM:192430
disease_name: VELOCARDIOFACIAL SYNDROME
gene_symbol: DGCR2
disease_id: OMIM:192430
disease_name: VELOCARDIOFACIAL SYNDROME
gene_symbol: LMOD1
disease_id: ORPHA:2241
disease_name: Megacystis-microcolon-intestinal hypoperistalsis syndrome
Berdon syndrome
MMIHS
Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome
gene_symbol: MYLK
disease_id: ORPHA:2241
disease_name: Megacystis-microcolon-intestinal hypoperistalsis syndrome
Berdon syndrome
MMIHS
Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome
gene_symbol: ZBTB7A
disease_id: OMIM:619769
disease_name: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN
gene_symbol: ALDH18A1
disease_id: OMIM:219150
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA
gene_symbol: FLNA
disease_id: OMIM:304120
disease_name: OTOPALATODIGITAL SYNDROME, TYPE II
gene_symbol: FLNA
disease_id: ORPHA:75497
disease_name: X-linked Ehlers-Danlos syndrome
EDS V
Ehlers-Danlos syndrome type 5
X-linked EDS
gene_symbol: MLXIPL
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: SLC35C1
disease_id: ORPHA:99843
disease_name: Leukocyte adhesion deficiency type II
CDG syndrome type IIc
CDG-IIc
CDG2C
LAD-II
Rambam-Hasharon syndrome
SLC35C1-CDG
gene_symbol: TFE3
disease_id: OMIM:301066
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES
gene_symbol: GPC4
disease_id: ORPHA:373
disease_name: Simpson-Golabi-Behmel syndrome
DGSX
Golabi-Rosen syndrome
SDYS
SGBS
SGBS1
Simpson dysmorphia syndrome
Simpson-Golabi-Behmel syndrome type 1
X-linked dysplasia gigantism syndrome
gene_symbol: GPC4
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: GPC3
disease_id: ORPHA:373
disease_name: Simpson-Golabi-Behmel syndrome
DGSX
Golabi-Rosen syndrome
SDYS
SGBS
SGBS1
Simpson dysmorphia syndrome
Simpson-Golabi-Behmel syndrome type 1
X-linked dysplasia gigantism syndrome
gene_symbol: GPC3
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: CBS
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: CBS
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: MFAP5
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: MFAP5
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: IPO8
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: IPO8
disease_id: OMIM:619472
disease_name: VISS SYNDROME
gene_symbol: IPO8
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: THSD4
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: THSD4
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: TGFB2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFB2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: TGFBR1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFBR1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: SKI
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SKI
disease_id: ORPHA:2462
disease_name: Shprintzen-Goldberg syndrome
Marfanoid craniosynostosis syndrome
SGS
gene_symbol: SKI
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: PLOD1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: PLOD1
disease_id: ORPHA:1900
disease_name: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Cutis hyperelastica
EDS VIA
Ehlers-Danlos syndrome type 6A
Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency
Lysyl hydroxylase-deficient EDS
Ocular-scoliotic EDS
kEDS-PLOD1
gene_symbol: PLOD1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: NPR3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: NPR3
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: SMAD3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SMAD3
disease_id: OMIM:613795
disease_name: LOEYS-DIETZ SYNDROME 3
gene_symbol: SMAD3
disease_id: ORPHA:284984
disease_name: Aneurysm-osteoarthritis syndrome
gene_symbol: SMAD3
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: PMEPA1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: PMEPA1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: EFEMP1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: EFEMP1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: EFEMP2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: EFEMP2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: LTBP3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: LTBP3
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: ASPH
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: ASPH
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: FBN2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FBN2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: LOX
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: LOX
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: SLC2A10
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SLC2A10
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: TGFB3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFB3
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: TGFBR2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFBR2
disease_id: OMIM:610168
disease_name: LOEYS-DIETZ SYNDROME 2
gene_symbol: TGFBR2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: BGN
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: BGN
disease_id: OMIM:300989
disease_name: MEESTER-LOEYS SYNDROME
gene_symbol: BGN
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: NPR2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: NPR2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: ABL1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: ABL1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: SMAD2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SMAD2
disease_id: OMIM:619656
disease_name: LOEYS-DIETZ SYNDROME 6
gene_symbol: SMAD2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: IDS
disease_id: OMIM:309900
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE II
gene_symbol: PIGW
disease_id: OMIM:616025
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11
gene_symbol: NALCN
disease_id: OMIM:616266
disease_name: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
gene_symbol: TGDS
disease_id: OMIM:616145
disease_name: CATEL-MANZKE SYNDROME
gene_symbol: EOGT
disease_id: OMIM:615297
disease_name: ADAMS-OLIVER SYNDROME 4
gene_symbol: PRR12
disease_id: OMIM:619539
disease_name: NEUROOCULAR SYNDROME 1
gene_symbol: NOTCH1
disease_id: OMIM:616028
disease_name: ADAMS-OLIVER SYNDROME 5
gene_symbol: ANTXR1
disease_id: OMIM:230740
disease_name: GAPO SYNDROME
gene_symbol: ANTXR1
disease_id: ORPHA:2067
disease_name: GAPO syndrome
Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome
gene_symbol: BCL11B
disease_id: OMIM:617237
disease_name: IMMUNODEFICIENCY 49
gene_symbol: LBR
disease_id: OMIM:169400
disease_name: PELGER-HUET ANOMALY
gene_symbol: EZH2
disease_id: OMIM:277590
disease_name: WEAVER SYNDROME
gene_symbol: CHD3
disease_id: OMIM:618205
disease_name: SNIJDERS BLOK-CAMPEAU SYNDROME
gene_symbol: TRIP11
disease_id: ORPHA:93299
disease_name: Achondrogenesis type 1A
Achondrogenesis, Houston-Harris type
gene_symbol: GTF2H5
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: CARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: RNF113A
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: MPLKIP
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: TARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: AARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC3
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: GTF2E2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: HSPG2
disease_id: OMIM:255800
disease_name: SCHWARTZ-JAMPEL SYNDROME, TYPE 1
gene_symbol: HSPG2
disease_id: ORPHA:800
disease_name: Schwartz-Jampel syndrome
Aberfeld syndrome
Burton skeletal dysplasia
Burton syndrome
Catel-Hempel syndrome
Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
Myotonic chondrodystrophy
Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
Osteochondromuscular dystrophy
SJS
SJS1
Schwartz-Jampel syndrome type 1
Schwartz-Jampel-Aberfeld syndrome
gene_symbol: CCBE1
disease_id: OMIM:235510
disease_name: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1
gene_symbol: SLC5A5
disease_id: OMIM:274400
disease_name: THYROID DYSHORMONOGENESIS 1
gene_symbol: SLC5A5
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: TWIST2
disease_id: ORPHA:920
disease_name: Ablepharon macrostomia syndrome
gene_symbol: SMARCA2
disease_id: OMIM:601358
disease_name: NICOLAIDES-BARAITSER SYNDROME
gene_symbol: CREBBP
disease_id: OMIM:618332
disease_name: MENKE-HENNEKAM SYNDROME 1
gene_symbol: CREBBP
disease_id: ORPHA:592574
disease_name: Menke-Hennekam syndrome
gene_symbol: TRRAP
disease_id: OMIM:618454
disease_name: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM
gene_symbol: IFT140
disease_id: OMIM:266920
disease_name: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
gene_symbol: PACS1
disease_id: ORPHA:329224
disease_name: Schuurs-Hoeijmakers syndrome
PACS1-NDD
PACS1-neurodevelopmental disorder
PACS1-related syndrome
gene_symbol: GMNN
disease_id: OMIM:616835
disease_name: MEIER-GORLIN SYNDROME 6
gene_symbol: FGD1
disease_id: ORPHA:915
disease_name: Aarskog-Scott syndrome
Aarskog syndrome
Faciodigitogenital syndrome
Faciogenital dysplasia
gene_symbol: FGD1
disease_id: OMIM:305400
disease_name: AARSKOG-SCOTT SYNDROME
gene_symbol: RAP1B
disease_id: OMIM:620654
disease_name: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES
gene_symbol: KNSTRN
disease_id: OMIM:613328
disease_name: ROIFMAN-CHITAYAT SYNDROME
gene_symbol: KNSTRN
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: PIK3CD
disease_id: OMIM:613328
disease_name: ROIFMAN-CHITAYAT SYNDROME
gene_symbol: PIK3CD
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: CDKL5
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: KCNA1
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: PIGQ
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: SLC32A1
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: GNAO1
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: TRIM8
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: GRIN1
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: SLC25A22
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: SIK1
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: CASK
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: DMXL2
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: GRM7
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: ARX
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: PNKP
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: SCN2A
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: PIGP
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: SCN1B
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: NEUROD2
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: LONP1
disease_id: OMIM:600373
disease_name: CODAS SYNDROME
gene_symbol: SGSH
disease_id: OMIM:252900
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IIIA
gene_symbol: RTL1
disease_id: ORPHA:254534
disease_name: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
gene_symbol: RTL1
disease_id: ORPHA:254528
disease_name: Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Maternal del(14)(q32.2)
Maternal monosomy 14q32.2
gene_symbol: DLK1
disease_id: ORPHA:254534
disease_name: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
gene_symbol: DLK1
disease_id: ORPHA:254528
disease_name: Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Maternal del(14)(q32.2)
Maternal monosomy 14q32.2
gene_symbol: MEG3
disease_id: ORPHA:254534
disease_name: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
gene_symbol: MEG3
disease_id: ORPHA:254528
disease_name: Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Maternal del(14)(q32.2)
Maternal monosomy 14q32.2
gene_symbol: HDAC4
disease_id: ORPHA:1001
disease_name: 2q37 microdeletion syndrome
Albright hereditary osteodystrophy type 3
Albright hereditary osteodystrophy-like syndrome
Brachydactyly-intellectual disability syndrome
Del(2)(q37)
Deletion 2q37
Monosomy 2q37qter
gene_symbol: CAPRIN1
disease_id: OMIM:620782
disease_name: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER
gene_symbol: ATRX
disease_id: OMIM:301040
disease_name: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
gene_symbol: ARSB
disease_id: OMIM:253200
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE VI
gene_symbol: SALL1
disease_id: OMIM:107480
disease_name: TOWNES-BROCKS SYNDROME 1
gene_symbol: SRCAP
disease_id: OMIM:136140
disease_name: FLOATING-HARBOR SYNDROME
gene_symbol: PPP2CA
disease_id: OMIM:618354
disease_name: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES
gene_symbol: NOTCH3
disease_id: OMIM:130720
disease_name: LATERAL MENINGOCELE SYNDROME
gene_symbol: NOTCH3
disease_id: ORPHA:2789
disease_name: Lateral meningocele syndrome
Lehman syndrome
gene_symbol: FBXW11
disease_id: OMIM:618914
disease_name: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME
gene_symbol: GLIS3
disease_id: OMIM:610199
disease_name: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM
gene_symbol: HIVEP2
disease_id: OMIM:616977
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
gene_symbol: KCNJ11
disease_id: ORPHA:99886
disease_name: Transient neonatal diabetes mellitus
TNDM
gene_symbol: ZFP57
disease_id: ORPHA:99886
disease_name: Transient neonatal diabetes mellitus
TNDM
gene_symbol: ABCC8
disease_id: ORPHA:99886
disease_name: Transient neonatal diabetes mellitus
TNDM
gene_symbol: FTO
disease_id: OMIM:612938
disease_name: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM
gene_symbol: NFIX
disease_id: OMIM:602535
disease_name: MARSHALL-SMITH SYNDROME
gene_symbol: KCNH1
disease_id: OMIM:135500
disease_name: ZIMMERMANN-LABAND SYNDROME 1
gene_symbol: NAA10
disease_id: OMIM:300855
disease_name: OGDEN SYNDROME
gene_symbol: GPC6
disease_id: OMIM:258315
disease_name: OMODYSPLASIA 1
gene_symbol: DUOXA2
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: TG
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: TPO
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: IYD
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: TENT5A
disease_id: OMIM:617952
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XVIII
gene_symbol: NKX2-1
disease_id: ORPHA:95713
disease_name: Athyreosis
gene_symbol: NKX2-5
disease_id: ORPHA:95713
disease_name: Athyreosis
gene_symbol: NKX2-5
disease_id: ORPHA:95712
disease_name: Thyroid ectopia
gene_symbol: FOXE1
disease_id: ORPHA:95713
disease_name: Athyreosis
gene_symbol: SLC26A4
disease_id: ORPHA:95713
disease_name: Athyreosis
gene_symbol: RIPPLY2
disease_id: ORPHA:2311
disease_name: Autosomal recessive spondylocostal dysostosis
Jarcho-Levin syndrome
gene_symbol: TBX6
disease_id: ORPHA:2311
disease_name: Autosomal recessive spondylocostal dysostosis
Jarcho-Levin syndrome
gene_symbol: DLL3
disease_id: ORPHA:2311
disease_name: Autosomal recessive spondylocostal dysostosis
Jarcho-Levin syndrome
gene_symbol: LFNG
disease_id: ORPHA:2311
disease_name: Autosomal recessive spondylocostal dysostosis
Jarcho-Levin syndrome
gene_symbol: HES7
disease_id: ORPHA:2311
disease_name: Autosomal recessive spondylocostal dysostosis
Jarcho-Levin syndrome
gene_symbol: MESP2
disease_id: ORPHA:2311
disease_name: Autosomal recessive spondylocostal dysostosis
Jarcho-Levin syndrome
gene_symbol: EN1
disease_id: OMIM:619218
disease_name: ENDOVE SYNDROME, LIMB-BRAIN TYPE
gene_symbol: MED13L
disease_id: ORPHA:369891
disease_name: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
MED13L-related intellectual disability syndrome
gene_symbol: COMT
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: JMJD1C
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: GP1BB
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: RREB1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: HIRA
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: SEC24C
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: UFD1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: ARVCF
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: ATP7A
disease_id: ORPHA:565
disease_name: Menkes disease
MD
Menkes kinky hair disease
Menkes syndrome
gene_symbol: RNF2
disease_id: OMIM:619460
disease_name: LUO-SCHOCH-YAMAMOTO SYNDROME
gene_symbol: XYLT2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: PLOD3
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: VCAN
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL9A1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL9A2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL9A3
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL11A1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL11A2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: KCNJ13
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL2A1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: BMP4
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: SLITRK6
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: P3H2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: LOXL3
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: GLRB
disease_id: ORPHA:3197
disease_name: Hereditary hyperekplexia
Congenital stiff man syndrome
Familial startle disease
Hereditary hyperexplexia
Kok disease
Stiff baby syndrome
gene_symbol: GLRA1
disease_id: ORPHA:3197
disease_name: Hereditary hyperekplexia
Congenital stiff man syndrome
Familial startle disease
Hereditary hyperexplexia
Kok disease
Stiff baby syndrome
gene_symbol: GLRA1
disease_id: OMIM:149400
disease_name: HYPEREKPLEXIA 1
gene_symbol: GPHN
disease_id: ORPHA:3197
disease_name: Hereditary hyperekplexia
Congenital stiff man syndrome
Familial startle disease
Hereditary hyperexplexia
Kok disease
Stiff baby syndrome
gene_symbol: GPHN
disease_id: OMIM:149400
disease_name: HYPEREKPLEXIA 1
gene_symbol: ATAD1
disease_id: ORPHA:3197
disease_name: Hereditary hyperekplexia
Congenital stiff man syndrome
Familial startle disease
Hereditary hyperexplexia
Kok disease
Stiff baby syndrome
gene_symbol: ATAD1
disease_id: OMIM:618011
disease_name: HYPEREKPLEXIA 4
gene_symbol: SLC6A5
disease_id: ORPHA:3197
disease_name: Hereditary hyperekplexia
Congenital stiff man syndrome
Familial startle disease
Hereditary hyperexplexia
Kok disease
Stiff baby syndrome
gene_symbol: ADAMTS2
disease_id: OMIM:225410
disease_name: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
gene_symbol: MTOR
disease_id: OMIM:616638
disease_name: SMITH-KINGSMORE SYNDROME
gene_symbol: RAB23
disease_id: ORPHA:65759
disease_name: Carpenter syndrome
ACPS2
Acrocephalopolysyndactyly type 2
gene_symbol: RAB23
disease_id: OMIM:201000
disease_name: CARPENTER SYNDROME 1
gene_symbol: PHGDH
disease_id: ORPHA:79351
disease_name: 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
PHGDH deficiency, infantile/juvenile form
gene_symbol: SETBP1
disease_id: ORPHA:798
disease_name: Schinzel-Giedion syndrome
SGS
gene_symbol: RFX7
disease_id: OMIM:620330
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES
gene_symbol: PORCN
disease_id: OMIM:305600
disease_name: FOCAL DERMAL HYPOPLASIA
gene_symbol: PORCN
disease_id: ORPHA:2092
disease_name: Focal dermal hypoplasia
Goltz syndrome
Goltz-Gorlin syndrome
gene_symbol: POLR3GL
disease_id: OMIM:619234
disease_name: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY
gene_symbol: C1S
disease_id: OMIM:617174
disease_name: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2
gene_symbol: BSCL2
disease_id: OMIM:269700
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2
gene_symbol: PIGS
disease_id: OMIM:618143
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18
gene_symbol: TOR1A
disease_id: OMIM:618947
disease_name: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5
gene_symbol: SH3PXD2B
disease_id: ORPHA:137834
disease_name: Frank-Ter Haar syndrome
Ter Haar syndrome
gene_symbol: DICER1
disease_id: OMIM:618272
disease_name: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR
gene_symbol: CHST14
disease_id: OMIM:601776
disease_name: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1
gene_symbol: MBTPS2
disease_id: OMIM:308205
disease_name: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME
gene_symbol: CSNK2A1
disease_id: OMIM:617062
disease_name: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
gene_symbol: BCOR
disease_id: OMIM:300166
disease_name: MICROPHTHALMIA, SYNDROMIC 2
gene_symbol: OCLN
disease_id: OMIM:251290
disease_name: PSEUDO-TORCH SYNDROME 1
gene_symbol: SLC35D1
disease_id: OMIM:269250
disease_name: SCHNECKENBECKEN DYSPLASIA
gene_symbol: ACTB
disease_id: OMIM:620475
disease_name: THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY
gene_symbol: CLDN19
disease_id: ORPHA:2196
disease_name: Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
FHHNC with severe ocular involvement
Hypercalciuria-bilateral macular coloboma syndrome
Meier-Blumberg-Imahorn syndrome
gene_symbol: RAC1
disease_id: OMIM:617751
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
gene_symbol: RAC1
disease_id: ORPHA:500159
disease_name: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
gene_symbol: TRAF7
disease_id: OMIM:618164
disease_name: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY
gene_symbol: KDM3B
disease_id: OMIM:618846
disease_name: DIETS-JONGMANS SYNDROME
gene_symbol: PIGL
disease_id: OMIM:280000
disease_name: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME
gene_symbol: COLEC10
disease_id: ORPHA:293843
disease_name: 3MC syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
gene_symbol: COLEC11
disease_id: ORPHA:293843
disease_name: 3MC syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
gene_symbol: ELMO2
disease_id: OMIM:606893
disease_name: VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS
gene_symbol: PPIB
disease_id: OMIM:259440
disease_name: OSTEOGENESIS IMPERFECTA, TYPE IX
gene_symbol: MYH3
disease_id: ORPHA:2990
disease_name: Autosomal recessive multiple pterygium syndrome
Autosomal recessive non-lethal multiple pterygium syndrome
EVMPS
Escobar syndrome
Escobar variant multiple pterygium syndrome
gene_symbol: FBLN5
disease_id: OMIM:219100
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA
gene_symbol: PTCH1
disease_id: ORPHA:77301
disease_name: Monosomy 9q22.3 syndrome
Microdeletion 9q22.3
gene_symbol: SOX6
disease_id: OMIM:618971
disease_name: TOLCHIN-LE CAIGNEC SYNDROME
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
gene_symbol: TUBB
disease_id: ORPHA:2505
disease_name: Multiple benign circumferential skin creases on limbs
CCSF
Circumferential skin creases, Kunze type
Congenital circumferential skin folds
Kunze-Riehm syndrome
gene_symbol: MAPRE2
disease_id: ORPHA:2505
disease_name: Multiple benign circumferential skin creases on limbs
CCSF
Circumferential skin creases, Kunze type
Congenital circumferential skin folds
Kunze-Riehm syndrome
gene_symbol: IFT81
disease_id: OMIM:617895
disease_name: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY
gene_symbol: PIGN
disease_id: ORPHA:2059
disease_name: Fryns syndrome
Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome
gene_symbol: DYNC2I1
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: IFT80
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: DYNC2H1
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: DYNC2I2
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: NEK9
disease_id: OMIM:617022
disease_name: LETHAL CONGENITAL CONTRACTURE SYNDROME 10
gene_symbol: TMEM216
disease_id: OMIM:603194
disease_name: MECKEL SYNDROME, TYPE 2
gene_symbol: ZIC3
disease_id: OMIM:306955
disease_name: HETEROTAXY, VISCERAL, 1, X-LINKED
gene_symbol: CHUK
disease_id: OMIM:613630
disease_name: FETAL ENCASEMENT SYNDROME
gene_symbol: FREM1
disease_id: ORPHA:3366
disease_name: Non-syndromic metopic craniosynostosis
Isolated metopic craniosynostosis
Isolated trigonocephaly
Non-syndromic metopic suture synostosis
gene_symbol: FREM1
disease_id: OMIM:248450
disease_name: MANITOBA OCULOTRICHOANAL SYNDROME
gene_symbol: MMP2
disease_id: ORPHA:371428
disease_name: Multicentric osteolysis-nodulosis-arthropathy spectrum
MONA spectrum
NAO syndrome
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
gene_symbol: MMP14
disease_id: ORPHA:371428
disease_name: Multicentric osteolysis-nodulosis-arthropathy spectrum
MONA spectrum
NAO syndrome
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
gene_symbol: ALG9
disease_id: OMIM:263210
disease_name: GILLESSEN-KAESBACH-NISHIMURA SYNDROME
gene_symbol: ALG9
disease_id: ORPHA:79328
disease_name: ALG9-CDG
CDG syndrome type IL
CDG-IL
CDG1L
Carbohydrate deficient glycoprotein syndrome type IL
Congenital disorder of glycosylation type 1L
Mannosyltransferase 7-9 deficiency
gene_symbol: THRA
disease_id: OMIM:614450
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
gene_symbol: PLCB4
disease_id: OMIM:620458
disease_name: AURICULOCONDYLAR SYNDROME 2B
gene_symbol: MAMLD1
disease_id: ORPHA:95706
disease_name: Non-syndromic posterior hypospadias
Hypospadias, severe form
Perineal, scrotal or penoscrotal hypospadias
gene_symbol: MTHFR
disease_id: ORPHA:563609
disease_name: Isolated anencephaly
gene_symbol: VANGL2
disease_id: ORPHA:563609
disease_name: Isolated anencephaly
gene_symbol: TTC7A
disease_id: OMIM:243150
disease_name: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME
gene_symbol: TTC7A
disease_id: ORPHA:436252
disease_name: Combined immunodeficiency-enteropathy spectrum
CID-MIA/early-onset IBD
gene_symbol: PPP1R12A
disease_id: OMIM:618820
disease_name: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME
gene_symbol: GAD1
disease_id: OMIM:619124
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89
gene_symbol: TMEM94
disease_id: OMIM:618316
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES
gene_symbol: AMER1
disease_id: OMIM:300373
disease_name: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
gene_symbol: HIC1
disease_id: ORPHA:531
disease_name: Miller-Dieker syndrome
Lissencephaly due to 17p13.3 deletion
Monosomy 17p13.3
Telomeric deletion 17p
gene_symbol: CEP120
disease_id: OMIM:616300
disease_name: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY
gene_symbol: BHLHA9
disease_id: ORPHA:3329
disease_name: Tibial aplasia-ectrodactyly syndrome
Aplasia of tibia with split-hand/split-foot deformity
SHFLD syndrome
SHFM associated with aplasia of long bones
Split hand/foot malformation with long bone deficiency
Split-hand/foot malformation associated with aplasia of long bones
TH-SHFM
Tibial hemimelia with split hand/foot malformation
Tibial hemimelia-ectrodactyly syndrome
gene_symbol: PI4KA
disease_id: ORPHA:436252
disease_name: Combined immunodeficiency-enteropathy spectrum
CID-MIA/early-onset IBD
gene_symbol: HYLS1
disease_id: OMIM:236680
disease_name: HYDROLETHALUS SYNDROME 1
gene_symbol: HOXD13
disease_id: ORPHA:887
disease_name: VACTERL/VATER association
VACTERL association
VATER association
Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association
gene_symbol: MKS1
disease_id: OMIM:249000
disease_name: MECKEL SYNDROME, TYPE 1
gene_symbol: DACT1
disease_id: ORPHA:63260
disease_name: Craniorachischisis
gene_symbol: FOXF1
disease_id: OMIM:265380
disease_name: ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS
gene_symbol: CDKN1C
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: KCNQ1
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: KCNQ1OT1
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: PPP2R3C
disease_id: OMIM:618419
disease_name: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY
gene_symbol: TBCK
disease_id: ORPHA:488632
disease_name: TBCK-related intellectual disability syndrome
gene_symbol: SHPK
disease_id: ORPHA:440713
disease_name: Isolated sedoheptulokinase deficiency
Isolated SHPK deficiency
gene_symbol: SF3B4
disease_id: OMIM:154400
disease_name: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE
gene_symbol: DHCR7
disease_id: ORPHA:818
disease_name: Smith-Lemli-Opitz syndrome
7-dehydrocholesterol reductase deficiency
RSH syndrome
SLOS
gene_symbol: WNT3
disease_id: OMIM:273395
disease_name: TETRAAMELIA SYNDROME 1
gene_symbol: KAT6A
disease_id: OMIM:616268
disease_name: ARBOLEDA-THAM SYNDROME
gene_symbol: LMNA
disease_id: ORPHA:740
disease_name: Hutchinson-Gilford progeria syndrome
HGPS
Progeria
gene_symbol: ZMPSTE24
disease_id: ORPHA:740
disease_name: Hutchinson-Gilford progeria syndrome
HGPS
Progeria
gene_symbol: CAVIN1
disease_id: OMIM:613327
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4
gene_symbol: FRAS1
disease_id: OMIM:219000
disease_name: FRASER SYNDROME 1
gene_symbol: KRT1
disease_id: ORPHA:530838
disease_name: KRT1-related diffuse nonepidermolytic keratoderma
KRT1-related diffuse NEPPK
gene_symbol: UPB1
disease_id: OMIM:613161
disease_name: BETA-UREIDOPROPIONASE DEFICIENCY
gene_symbol: PAH
disease_id: ORPHA:2209
disease_name: Maternal phenylketonuria
Hyperphenylalaninemic embryopathy
Maternal PKU
Maternal hyperphenylalaninemia
Phenylketonuric embryopathy
gene_symbol: MASP1
disease_id: OMIM:257920
disease_name: 3MC SYNDROME 1
gene_symbol: CTNNB1
disease_id: ORPHA:873
disease_name: Desmoid tumor
Aggressive fibromatosis
Desmoid type fibromatosis
gene_symbol: APC
disease_id: ORPHA:873
disease_name: Desmoid tumor
Aggressive fibromatosis
Desmoid type fibromatosis
gene_symbol: CHST3
disease_id: OMIM:245600
disease_name: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
gene_symbol: B3GAT3
disease_id: OMIM:245600
disease_name: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS
gene_symbol: USP9X
disease_id: ORPHA:480880
disease_name: X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females
gene_symbol: STS
disease_id: ORPHA:281090
disease_name: Syndromic recessive X-linked ichthyosis
Recessive X-linked ichthyosis with extracutaneous manifestations
Syndromic RXLI
gene_symbol: HLA-DQA1
disease_id: OMIM:212750
disease_name: CELIAC DISEASE, SUSCEPTIBILITY TO, 1
gene_symbol: HLA-DQB1
disease_id: OMIM:212750
disease_name: CELIAC DISEASE, SUSCEPTIBILITY TO, 1
gene_symbol: MECP2
disease_id: ORPHA:1762
disease_name: Proximal Xq28 duplication syndrome
MECP2 duplication syndrome
X-linked intellectual disability syndrome, Lubs type
gene_symbol: NLRP3
disease_id: ORPHA:575
disease_name: Muckle-Wells syndrome
Neutrophilic urticaria
gene_symbol: TBX3
disease_id: ORPHA:3138
disease_name: Ulnar-mammary syndrome
Pallister ulnar-mammary syndrome
Schinzel syndrome
UMS
gene_symbol: PIEZO1
disease_id: OMIM:616843
disease_name: LYMPHATIC MALFORMATION 6
gene_symbol: ALKBH8
disease_id: OMIM:618504
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71
gene_symbol: MYH11
disease_id: OMIM:619351
disease_name: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2
gene_symbol: CHRM3
disease_id: OMIM:100100
disease_name: PRUNE BELLY SYNDROME
gene_symbol: MANBA
disease_id: ORPHA:118
disease_name: Beta-mannosidosis
Beta-mannosidase deficiency
gene_symbol: RMRP
disease_id: ORPHA:175
disease_name: Cartilage-hair hypoplasia
Autosomal recessive metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia, McKusick type
gene_symbol: FLNB
disease_id: ORPHA:1263
disease_name: Boomerang dysplasia
gene_symbol: RRAS2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: CBL
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: LZTR1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RIT1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RAF1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RAF1
disease_id: ORPHA:500
disease_name: Noonan syndrome with multiple lentigines
Cardiomyopathic lentiginosis
Familial multiple lentigines syndrome
LEOPARD syndrome
gene_symbol: MRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: KRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: SPRED2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: NRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: SOS1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: SOS2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: PTPN11
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: PTPN11
disease_id: ORPHA:500
disease_name: Noonan syndrome with multiple lentigines
Cardiomyopathic lentiginosis
Familial multiple lentigines syndrome
LEOPARD syndrome
gene_symbol: RASA2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: BRAF
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: BRAF
disease_id: ORPHA:500
disease_name: Noonan syndrome with multiple lentigines
Cardiomyopathic lentiginosis
Familial multiple lentigines syndrome
LEOPARD syndrome
gene_symbol: CD96
disease_id: ORPHA:1308
disease_name: C syndrome
OTCS
Opitz C trigonocephaly
Opitz trigonocephaly C syndrome
Opitz trigonocephaly syndrome
Trigonocephaly C syndrome
gene_symbol: MCOLN1
disease_id: ORPHA:578
disease_name: Mucolipidosis type IV
gene_symbol: XYLT1
disease_id: ORPHA:1425
disease_name: Desbuquois syndrome
DBQD
Desbuquois dysplasia
gene_symbol: CANT1
disease_id: ORPHA:1425
disease_name: Desbuquois syndrome
DBQD
Desbuquois dysplasia
gene_symbol: CSGALNACT1
disease_id: ORPHA:1425
disease_name: Desbuquois syndrome
DBQD
Desbuquois dysplasia
gene_symbol: HYMAI
disease_id: ORPHA:96191
disease_name: Paternal uniparental disomy of chromosome 6 syndrome
UPD(6)pat
gene_symbol: PLAGL1
disease_id: ORPHA:96191
disease_name: Paternal uniparental disomy of chromosome 6 syndrome
UPD(6)pat
gene_symbol: TBXT
disease_id: OMIM:615709
disease_name: SACRAL AGENESIS WITH VERTEBRAL ANOMALIES
gene_symbol: RIPK4
disease_id: OMIM:263650
disease_name: BARTSOCAS-PAPAS SYNDROME
gene_symbol: FGFR2
disease_id: OMIM:123790
disease_name: BEARE-STEVENSON CUTIS GYRATA SYNDROME
gene_symbol: FKBP14
disease_id: OMIM:614557
disease_name: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2
gene_symbol: CAMSAP1
disease_id: OMIM:620316
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12