Phenotype: Abnormal cranial suture/fontanelle morphology (HP:0000235)
Associated genes and diseases:
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: TBC1D7
disease_id: ORPHA:2477
disease_name: Megalencephaly
Macroencephaly
gene_symbol: CHD6
disease_id: ORPHA:2108
disease_name: Hallermann-Streiff syndrome
François dyscephalic syndrome
Oculomandibulofacial syndrome
gene_symbol: EBP
disease_id: OMIM:300960
disease_name: MEND SYNDROME
gene_symbol: NFASC
disease_id: OMIM:618356
disease_name: NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION
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: RNU4ATAC
disease_id: OMIM:210710
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
gene_symbol: MYCN
disease_id: OMIM:164280
disease_name: FEINGOLD SYNDROME 1
gene_symbol: VARS1
disease_id: OMIM:617802
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY
gene_symbol: SLC25A19
disease_id: OMIM:607196
disease_name: MICROCEPHALY, AMISH TYPE
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: ATP7A
disease_id: ORPHA:198
disease_name: Occipital horn syndrome
gene_symbol: LHX1
disease_id: ORPHA:261265
disease_name: 17q12 microdeletion syndrome
Del(17)(q12)
Monosomy 17q12
gene_symbol: HNF1B
disease_id: ORPHA:261265
disease_name: 17q12 microdeletion syndrome
Del(17)(q12)
Monosomy 17q12
gene_symbol: CLCN3
disease_id: OMIM:619512
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES
gene_symbol: MVK
disease_id: ORPHA:29
disease_name: Mevalonic aciduria
Complete mevalonate kinase deficiency
MVA
gene_symbol: MVK
disease_id: OMIM:610377
disease_name: MEVALONIC ACIDURIA
gene_symbol: SPTBN1
disease_id: OMIM:619475
disease_name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
gene_symbol: LTBP4
disease_id: OMIM:613177
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC
gene_symbol: PEX2
disease_id: OMIM:614866
disease_name: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
gene_symbol: HPGD
disease_id: OMIM:259100
disease_name: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1
gene_symbol: HPGD
disease_id: ORPHA:1525
disease_name: Cranio-osteoarthropathy
Currarino disease
Currarino idiopathic osteoarthropathy
Reginato-Schiapachasse syndrome
gene_symbol: PEX5
disease_id: OMIM:214110
disease_name: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
gene_symbol: CHST14
disease_id: OMIM:601776
disease_name: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1
gene_symbol: CHST14
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: RNU12
disease_id: OMIM:603116
disease_name: CDAGS SYNDROME
gene_symbol: INPPL1
disease_id: OMIM:258480
disease_name: OPSISMODYSPLASIA
gene_symbol: INPPL1
disease_id: ORPHA:2746
disease_name: Opsismodysplasia
gene_symbol: GNPAT
disease_id: OMIM:222765
disease_name: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2
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: ASXL3
disease_id: OMIM:615485
disease_name: BAINBRIDGE-ROPERS SYNDROME
gene_symbol: ACTA1
disease_id: ORPHA:171430
disease_name: Severe congenital nemaline myopathy
gene_symbol: NEB
disease_id: ORPHA:171430
disease_name: Severe congenital nemaline myopathy
gene_symbol: NEB
disease_id: OMIM:619334
disease_name: ARTHROGRYPOSIS MULTIPLEX CONGENITA 6
gene_symbol: KLHL40
disease_id: ORPHA:171430
disease_name: Severe congenital nemaline myopathy
gene_symbol: KLHL41
disease_id: ORPHA:171430
disease_name: Severe congenital nemaline myopathy
gene_symbol: LMOD3
disease_id: ORPHA:171430
disease_name: Severe congenital nemaline myopathy
gene_symbol: PYCR1
disease_id: OMIM:614438
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB
gene_symbol: PYCR1
disease_id: OMIM:612940
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB
gene_symbol: SHPK
disease_id: ORPHA:440713
disease_name: Isolated sedoheptulokinase deficiency
Isolated SHPK deficiency
gene_symbol: FAT4
disease_id: ORPHA:314679
disease_name: Cerebrofacioarticular syndrome
Van Maldergem syndrome
gene_symbol: DCHS1
disease_id: ORPHA:314679
disease_name: Cerebrofacioarticular syndrome
Van Maldergem syndrome
gene_symbol: ALDH18A1
disease_id: OMIM:219150
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA
gene_symbol: LMNA
disease_id: ORPHA:90153
disease_name: Mandibuloacral dysplasia with type A lipodystrophy
MADA
gene_symbol: ZMPSTE24
disease_id: ORPHA:90154
disease_name: Mandibuloacral dysplasia with type B lipodystrophy
gene_symbol: ZMPSTE24
disease_id: OMIM:275210
disease_name: RESTRICTIVE DERMOPATHY, LETHAL
gene_symbol: FAM20C
disease_id: ORPHA:1832
disease_name: Osteosclerotic bone dysplasia
Raine syndrome
gene_symbol: FAM20C
disease_id: OMIM:259775
disease_name: RAINE SYNDROME
gene_symbol: PAX8
disease_id: ORPHA:95720
disease_name: Thyroid hypoplasia
gene_symbol: PAX8
disease_id: ORPHA:95713
disease_name: Athyreosis
gene_symbol: PAX8
disease_id: ORPHA:95712
disease_name: Thyroid ectopia
gene_symbol: TSHR
disease_id: ORPHA:95720
disease_name: Thyroid hypoplasia
gene_symbol: TSHR
disease_id: ORPHA:95713
disease_name: Athyreosis
gene_symbol: SLC26A4
disease_id: ORPHA:95720
disease_name: Thyroid hypoplasia
gene_symbol: SLC26A4
disease_id: ORPHA:95713
disease_name: Athyreosis
gene_symbol: RBM10
disease_id: ORPHA:2886
disease_name: TARP syndrome
Pierre Robin sequence-congenital heart defect-talipes syndrome
Pierre Robin syndrome-congenital heart defect-talipes syndrome
Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome
gene_symbol: RBM10
disease_id: OMIM:311900
disease_name: TARP SYNDROME
gene_symbol: AMER1
disease_id: OMIM:300373
disease_name: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
gene_symbol: AMER1
disease_id: ORPHA:2780
disease_name: Osteopathia striata-cranial sclerosis syndrome
Hyperostosis generalisata with striations
Robinow-Unger syndrome
gene_symbol: FGFR2
disease_id: ORPHA:87
disease_name: Apert syndrome
ACS1
Acrocephalosyndactyly type 1
gene_symbol: FGFR2
disease_id: OMIM:101200
disease_name: APERT SYNDROME
gene_symbol: SEC23A
disease_id: ORPHA:50814
disease_name: Craniolenticulosutural dysplasia
Boyadjiev-Jabs syndrome
gene_symbol: CDKN1C
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: IGF2
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: H19
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: RECQL4
disease_id: ORPHA:1225
disease_name: Baller-Gerold syndrome
gene_symbol: RECQL4
disease_id: OMIM:218600
disease_name: BALLER-GEROLD SYNDROME
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: USP7
disease_id: OMIM:616863
disease_name: HAO-FOUNTAIN SYNDROME
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:1627
disease_name: Deletion 5q35 syndrome
Del (5)(q35)
Del (5)(qter)
Distal 5q deletion
Monosomy 5q35
Telomeric deletion 5q
gene_symbol: NKX2-5
disease_id: ORPHA:95712
disease_name: Thyroid ectopia
gene_symbol: FOXE1
disease_id: ORPHA:95713
disease_name: Athyreosis
gene_symbol: PEX13
disease_id: OMIM:614883
disease_name: PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)
gene_symbol: COL1A1
disease_id: OMIM:166210
disease_name: OSTEOGENESIS IMPERFECTA, TYPE II
gene_symbol: COL1A2
disease_id: OMIM:166210
disease_name: OSTEOGENESIS IMPERFECTA, TYPE II
gene_symbol: PEX14
disease_id: OMIM:614887
disease_name: PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
gene_symbol: HSD17B4
disease_id: OMIM:261515
disease_name: D-BIFUNCTIONAL PROTEIN DEFICIENCY
gene_symbol: ZSWIM6
disease_id: ORPHA:1827
disease_name: Acromelic frontonasal dysplasia
AFND
Acromelic frontonasal dysostosis
Toriello syndrome
gene_symbol: NSD1
disease_id: ORPHA:1627
disease_name: Deletion 5q35 syndrome
Del (5)(q35)
Del (5)(qter)
Distal 5q deletion
Monosomy 5q35
Telomeric deletion 5q
gene_symbol: ACTG1
disease_id: ORPHA:2995
disease_name: Baraitser-Winter cerebrofrontofacial syndrome
gene_symbol: ACTB
disease_id: ORPHA:2995
disease_name: Baraitser-Winter cerebrofrontofacial syndrome
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: FIG4
disease_id: OMIM:216340
disease_name: YUNIS-VARON SYNDROME
gene_symbol: CAV1
disease_id: OMIM:606721
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7
gene_symbol: NPHP3
disease_id: OMIM:267010
disease_name: MECKEL SYNDROME, TYPE 7
gene_symbol: RUNX2
disease_id: OMIM:119600
disease_name: CLEIDOCRANIAL DYSPLASIA
gene_symbol: RUNX2
disease_id: ORPHA:1452
disease_name: Cleidocranial dysplasia
Cleidocranial dysostosis
gene_symbol: PIGA
disease_id: OMIM:300868
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
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: PAM16
disease_id: OMIM:613320
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE
gene_symbol: CTNNB1
disease_id: ORPHA:2780
disease_name: Osteopathia striata-cranial sclerosis syndrome
Hyperostosis generalisata with striations
Robinow-Unger syndrome
gene_symbol: ALG8
disease_id: OMIM:608104
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih
gene_symbol: RBMX
disease_id: ORPHA:3078
disease_name: Severe X-linked intellectual disability, Gustavson type
gene_symbol: ALG1
disease_id: OMIM:608540
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik
gene_symbol: GJA1
disease_id: OMIM:257850
disease_name: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE
gene_symbol: FLNA
disease_id: ORPHA:90652
disease_name: Otopalatodigital syndrome type 2
OPD II syndrome
OPD syndrome 2
gene_symbol: BMPER
disease_id: OMIM:608022
disease_name: DIAPHANOSPONDYLODYSOSTOSIS
gene_symbol: DDR2
disease_id: OMIM:271665
disease_name: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
gene_symbol: MPDU1
disease_id: OMIM:609180
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
gene_symbol: MPDU1
disease_id: ORPHA:79323
disease_name: MPDU1-CDG
CDG syndrome type If
CDG-If
CDG1F
Carbohydrate deficient glycoprotein syndrome type If
Congenital disorder of glycosylation type 1f
Congenital disorder of glycosylation type If
gene_symbol: KIF7
disease_id: ORPHA:36
disease_name: Acrocallosal syndrome
ACS
gene_symbol: KIF7
disease_id: OMIM:200990
disease_name: ACROCALLOSAL SYNDROME
gene_symbol: GLIS3
disease_id: OMIM:610199
disease_name: DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM
gene_symbol: SOX9
disease_id: OMIM:114290
disease_name: CAMPOMELIC DYSPLASIA
gene_symbol: PEX1
disease_id: OMIM:214100
disease_name: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
gene_symbol: PEX1
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX1
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: ARX
disease_id: OMIM:300215
disease_name: LISSENCEPHALY, X-LINKED, 2
gene_symbol: NDUFAF3
disease_id: OMIM:618240
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
gene_symbol: CHUK
disease_id: OMIM:619339
disease_name: BARTSOCAS-PAPAS SYNDROME 2
gene_symbol: WT1
disease_id: OMIM:194080
disease_name: DENYS-DRASH SYNDROME
gene_symbol: COX5A
disease_id: OMIM:619064
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20
gene_symbol: PCGF2
disease_id: OMIM:618371
disease_name: TURNPENNY-FRY SYNDROME
gene_symbol: ADAMTS2
disease_id: OMIM:225410
disease_name: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
gene_symbol: COG8
disease_id: OMIM:611182
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh
gene_symbol: MTOR
disease_id: OMIM:616638
disease_name: SMITH-KINGSMORE SYNDROME
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: COL11A2
disease_id: ORPHA:2021
disease_name: Fibrochondrogenesis
gene_symbol: PEX12
disease_id: OMIM:614859
disease_name: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
gene_symbol: PEX12
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX12
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: HRAS
disease_id: OMIM:218040
disease_name: COSTELLO SYNDROME
gene_symbol: SMG9
disease_id: OMIM:616920
disease_name: HEART AND BRAIN MALFORMATION SYNDROME
gene_symbol: DEPDC5
disease_id: OMIM:620504
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111
gene_symbol: PIGQ
disease_id: OMIM:618548
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4
gene_symbol: GLI2
disease_id: OMIM:610829
disease_name: HOLOPROSENCEPHALY 9
gene_symbol: COG4
disease_id: OMIM:618150
disease_name: SAUL-WILSON SYNDROME
gene_symbol: DICER1
disease_id: OMIM:618272
disease_name: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR
gene_symbol: DDX3X
disease_id: ORPHA:3338
disease_name: Toriello-Carey syndrome
Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome
gene_symbol: PEX26
disease_id: OMIM:614872
disease_name: PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)
gene_symbol: PEX26
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX26
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PIEZO2
disease_id: OMIM:248700
disease_name: MARDEN-WALKER SYNDROME
gene_symbol: PEX19
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX19
disease_id: OMIM:614886
disease_name: PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)
gene_symbol: PEX19
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX3
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX3
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX16
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX16
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX6
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX6
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX11B
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX11B
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX10
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX10
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PPP2R5D
disease_id: ORPHA:457279
disease_name: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
gene_symbol: KLF1
disease_id: OMIM:613673
disease_name: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IV
gene_symbol: WNT5A
disease_id: OMIM:180700
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
gene_symbol: DVL1
disease_id: OMIM:180700
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
gene_symbol: NSMCE3
disease_id: OMIM:617241
disease_name: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
gene_symbol: SIX2
disease_id: ORPHA:488437
disease_name: SIX2-related frontonasal dysplasia
SIX2-related FND
gene_symbol: RMP64
disease_id: OMIM:618853
disease_name: ANAUXETIC DYSPLASIA 3
gene_symbol: INTU
disease_id: OMIM:617925
disease_name: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY
gene_symbol: TALDO1
disease_id: OMIM:606003
disease_name: TRANSALDOLASE DEFICIENCY
gene_symbol: ETFDH
disease_id: OMIM:231680
disease_name: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY
gene_symbol: ETFA
disease_id: OMIM:231680
disease_name: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY
gene_symbol: ETFB
disease_id: OMIM:231680
disease_name: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY
gene_symbol: CBFB
disease_id: OMIM:620099
disease_name: CLEIDOCRANIAL DYSPLASIA 2
gene_symbol: TWIST1
disease_id: ORPHA:794
disease_name: Saethre-Chotzen syndrome
ACS3
Acrocephalosyndactyly type 3
SCS
gene_symbol: TWIST1
disease_id: OMIM:101400
disease_name: SAETHRE-CHOTZEN SYNDROME
gene_symbol: FGFR3
disease_id: ORPHA:794
disease_name: Saethre-Chotzen syndrome
ACS3
Acrocephalosyndactyly type 3
SCS
gene_symbol: LIG4
disease_id: ORPHA:235
disease_name: Dubowitz syndrome
gene_symbol: NSUN2
disease_id: ORPHA:235
disease_name: Dubowitz syndrome
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: POU1F1
disease_id: OMIM:613038
disease_name: PITUITARY HORMONE DEFICIENCY, COMBINED, 1
gene_symbol: HESX1
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: EP300
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: CREBBP
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: GLI3
disease_id: OMIM:175700
disease_name: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
gene_symbol: ZIC1
disease_id: OMIM:616602
disease_name: CRANIOSYNOSTOSIS 6
gene_symbol: PRKCZ
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: GABRD
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: SPEN
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: MMP23B
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: LUZP1
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: SKI
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: PDPN
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: HSPG2
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: UBE4B
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: KCNAB2
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: RERE
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: PRDM16
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: CASZ1
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
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: SH3PXD2B
disease_id: OMIM:249420
disease_name: FRANK-TER HAAR SYNDROME
gene_symbol: PDGFRB
disease_id: OMIM:601812
disease_name: PREMATURE AGING SYNDROME, PENTTINEN TYPE
gene_symbol: MTX2
disease_id: OMIM:619127
disease_name: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME
gene_symbol: BICRA
disease_id: OMIM:619325
disease_name: COFFIN-SIRIS SYNDROME 12
gene_symbol: ROR2
disease_id: OMIM:113000
disease_name: BRACHYDACTYLY, TYPE B1
gene_symbol: ROR2
disease_id: OMIM:268310
disease_name: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1
gene_symbol: TSHB
disease_id: ORPHA:90674
disease_name: Isolated thyroid-stimulating hormone deficiency
Isolated TSH deficiency
Isolated thyrotropin deficiency
gene_symbol: RNF125
disease_id: OMIM:616260
disease_name: TENORIO SYNDROME
gene_symbol: NAA10
disease_id: OMIM:300855
disease_name: OGDEN SYNDROME
gene_symbol: NAA10
disease_id: ORPHA:276432
disease_name: Ogden syndrome
Premature aging appearance-developmental delay-cardiac arrhythmia syndrome
gene_symbol: DUOXA2
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: SLC5A5
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: DUOX2
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: ANTXR1
disease_id: OMIM:230740
disease_name: GAPO SYNDROME
gene_symbol: CRTAP
disease_id: OMIM:610682
disease_name: OSTEOGENESIS IMPERFECTA, TYPE VII
gene_symbol: ELN
disease_id: ORPHA:90348
disease_name: Autosomal dominant cutis laxa
ADCL
gene_symbol: FBLN5
disease_id: ORPHA:90348
disease_name: Autosomal dominant cutis laxa
ADCL
gene_symbol: PRIM1
disease_id: OMIM:620005
disease_name: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
gene_symbol: RPS19
disease_id: OMIM:105650
disease_name: DIAMOND-BLACKFAN ANEMIA 1
gene_symbol: CTSK
disease_id: ORPHA:763
disease_name: Pycnodysostosis
Pyknodysostosis
gene_symbol: PPP1R21
disease_id: OMIM:619383
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
gene_symbol: DDX6
disease_id: OMIM:618653
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES
gene_symbol: ATP6V0A2
disease_id: OMIM:278250
disease_name: WRINKLY SKIN SYNDROME
gene_symbol: TBCE
disease_id: ORPHA:93324
disease_name: Autosomal recessive Kenny-Caffey syndrome
gene_symbol: FAM111A
disease_id: ORPHA:93325
disease_name: Autosomal dominant Kenny-Caffey syndrome
gene_symbol: EXTL3
disease_id: ORPHA:508533
disease_name: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
EXTL3-related neuro-immuno-skeletal dysplasia syndrome
Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency
gene_symbol: EXTL3
disease_id: OMIM:617425
disease_name: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
gene_symbol: YY1
disease_id: ORPHA:506358
disease_name: Gabriele-de Vries syndrome
YY1 haploinsufficiency syndrome
gene_symbol: TCIRG1
disease_id: OMIM:259700
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1
gene_symbol: TCIRG1
disease_id: ORPHA:667
disease_name: Autosomal recessive malignant osteopetrosis
Infantile malignant osteopetrosis
gene_symbol: EFNB1
disease_id: ORPHA:1520
disease_name: Craniofrontonasal dysplasia
CFND
CFNS
Craniofrontonasal syndrome
gene_symbol: SLC35A2
disease_id: ORPHA:356961
disease_name: SLC35A2-CDG
CDG syndrome type IIm
CDG-IIm
CDG2M
Congenital disorder of glycosylation type 2m
Congenital disorder of glycosylation type IIm
gene_symbol: WDR35
disease_id: OMIM:613610
disease_name: CRANIOECTODERMAL DYSPLASIA 2
gene_symbol: WDR35
disease_id: ORPHA:1515
disease_name: Cranioectodermal dysplasia
CED
Sensenbrenner syndrome
gene_symbol: APC2
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
gene_symbol: POR
disease_id: ORPHA:95699
disease_name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital adrenal hyperplasia due to cytochrome POR deficiency
POR deficiency
PORD
gene_symbol: POR
disease_id: OMIM:201750
disease_name: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
gene_symbol: HNRNPK
disease_id: ORPHA:453504
disease_name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
gene_symbol: HNRNPK
disease_id: OMIM:616580
disease_name: AU-KLINE SYNDROME
gene_symbol: HNRNPK
disease_id: ORPHA:352665
disease_name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
9q21.3 microdeletion syndrome
Del(9)(q21.3)
gene_symbol: MAN2B1
disease_id: ORPHA:309282
disease_name: Alpha-mannosidosis, infantile form
Lysosomal alpha-D-mannosidase deficiency, infantile form
gene_symbol: NFIA
disease_id: ORPHA:401986
disease_name: 1p31p32 microdeletion syndrome
Del(1)(p31p32)
Monosomy 1p31p32
gene_symbol: ALPL
disease_id: OMIM:241500
disease_name: HYPOPHOSPHATASIA, INFANTILE
gene_symbol: ALPL
disease_id: OMIM:241510
disease_name: HYPOPHOSPHATASIA, CHILDHOOD
gene_symbol: AHDC1
disease_id: ORPHA:412069
disease_name: AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
Xia-Gibbs syndrome
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME
gene_symbol: GNPTAB
disease_id: OMIM:252500
disease_name: MUCOLIPIDOSIS II ALPHA/BETA
gene_symbol: GNPTAB
disease_id: OMIM:252600
disease_name: MUCOLIPIDOSIS III 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: IFT43
disease_id: ORPHA:1515
disease_name: Cranioectodermal dysplasia
CED
Sensenbrenner syndrome
gene_symbol: IFT52
disease_id: ORPHA:1515
disease_name: Cranioectodermal dysplasia
CED
Sensenbrenner syndrome
gene_symbol: IFT122
disease_id: ORPHA:1515
disease_name: Cranioectodermal dysplasia
CED
Sensenbrenner syndrome
gene_symbol: WDR19
disease_id: ORPHA:1515
disease_name: Cranioectodermal dysplasia
CED
Sensenbrenner syndrome
gene_symbol: KANSL1
disease_id: ORPHA:363958
disease_name: 17q21.31 microdeletion syndrome
Del(17)(q21.31)
Monosomy 17q21.31
gene_symbol: KANSL1
disease_id: ORPHA:363965
disease_name: Koolen-De Vries syndrome due to a point mutation
gene_symbol: SETD1A
disease_id: OMIM:619056
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES
gene_symbol: POLR1A
disease_id: OMIM:616462
disease_name: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
gene_symbol: MED12
disease_id: ORPHA:93932
disease_name: FG syndrome type 1
Opitz-Kaveggia syndrome
gene_symbol: KAT6A
disease_id: ORPHA:457193
disease_name: KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome
Arboleda-Tham syndrome
KAT6A syndrome
gene_symbol: KAT6A
disease_id: OMIM:616268
disease_name: ARBOLEDA-THAM SYNDROME
gene_symbol: IL6ST
disease_id: OMIM:618523
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE
gene_symbol: SMAD6
disease_id: OMIM:617439
disease_name: CRANIOSYNOSTOSIS 7
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: WBP4
disease_id: OMIM:620852
disease_name: OMIM:620852
gene_symbol: FBN1
disease_id: OMIM:616914
disease_name: MARFANOID-PROGEROID-LIPODYSTROPHY 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: B4GALT7
disease_id: OMIM:130070
disease_name: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1
gene_symbol: PHEX
disease_id: ORPHA:89936
disease_name: X-linked hypophosphatemia
X-linked hypophosphatemic rickets
XLH
gene_symbol: CHD5
disease_id: OMIM:619873
disease_name: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME
gene_symbol: EXOC8
disease_id: OMIM:619076
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY
gene_symbol: ADAMTS3
disease_id: ORPHA:2136
disease_name: Hennekam syndrome
Lymphedema-lymphangiectasia-intellectual disability syndrome
gene_symbol: CCBE1
disease_id: ORPHA:2136
disease_name: Hennekam syndrome
Lymphedema-lymphangiectasia-intellectual disability syndrome
gene_symbol: SLC2A10
disease_id: ORPHA:3342
disease_name: Arterial tortuosity syndrome
ATS
gene_symbol: SLC2A10
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: TMCO1
disease_id: OMIM:213980
disease_name: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME
gene_symbol: ESCO2
disease_id: ORPHA:3103
disease_name: Roberts syndrome
Pseudothalidomide syndrome
Roberts-SC phocomelia syndrome
SC phocomelia
SC pseudothalidomide syndrome
gene_symbol: ESCO2
disease_id: OMIM:268300
disease_name: ROBERTS-SC PHOCOMELIA SYNDROME
gene_symbol: COLEC11
disease_id: OMIM:265050
disease_name: 3MC SYNDROME 2
gene_symbol: COLEC11
disease_id: ORPHA:293843
disease_name: 3MC syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
gene_symbol: STAT3
disease_id: OMIM:147060
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
gene_symbol: STAT3
disease_id: ORPHA:2314
disease_name: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
AD-HIES due to STAT3 deficiency
Autosomal dominant HIES due to STAT3 deficiency
Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency
Buckley syndrome
Job syndrome
gene_symbol: MSX2
disease_id: OMIM:604757
disease_name: CRANIOSYNOSTOSIS 2
gene_symbol: MSX2
disease_id: ORPHA:60015
disease_name: Enlarged parietal foramina
Catlin marks
Fenestrae parietales symmetricae
Foramina parietalia permagna
Hereditary cranium bifidum
Symmetric parietal foramina
gene_symbol: MYH3
disease_id: OMIM:178110
disease_name: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A
gene_symbol: ALX4
disease_id: ORPHA:60015
disease_name: Enlarged parietal foramina
Catlin marks
Fenestrae parietales symmetricae
Foramina parietalia permagna
Hereditary cranium bifidum
Symmetric parietal foramina
gene_symbol: ALX4
disease_id: OMIM:613451
disease_name: FRONTONASAL DYSPLASIA 2
gene_symbol: ALX4
disease_id: OMIM:615529
disease_name: CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO
gene_symbol: DMP1
disease_id: ORPHA:289176
disease_name: Autosomal recessive hypophosphatemic rickets
ARHR
gene_symbol: DMP1
disease_id: OMIM:241520
disease_name: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1
gene_symbol: ENPP1
disease_id: ORPHA:289176
disease_name: Autosomal recessive hypophosphatemic rickets
ARHR
gene_symbol: FGFR1
disease_id: OMIM:166250
disease_name: OSTEOGLOPHONIC DYSPLASIA
gene_symbol: FGFR1
disease_id: ORPHA:2117
disease_name: Hartsfield syndrome
Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome
gene_symbol: FGFR1
disease_id: OMIM:190440
disease_name: TRIGONOCEPHALY 1
gene_symbol: FGFR1
disease_id: ORPHA:2645
disease_name: Osteoglosphonic dysplasia
Osteoglophonic dwarfism
gene_symbol: FGFR1
disease_id: OMIM:123150
disease_name: JACKSON-WEISS SYNDROME
gene_symbol: FGFR1
disease_id: OMIM:615465
disease_name: HARTSFIELD SYNDROME
gene_symbol: SMAD3
disease_id: OMIM:613795
disease_name: LOEYS-DIETZ SYNDROME 3
gene_symbol: SMAD3
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
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: TGFBR2
disease_id: OMIM:610168
disease_name: LOEYS-DIETZ SYNDROME 2
gene_symbol: TGFBR2
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: TGFBR2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: ATR
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: CENPE
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: CPAP
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: PCNT
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: RBBP8
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: NUP85
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: ATRIP
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: TRAIP
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: DNA2
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: CEP152
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: PLK4
disease_id: ORPHA:808
disease_name: Seckel syndrome
gene_symbol: MAP3K7
disease_id: ORPHA:1826
disease_name: Frontometaphyseal dysplasia
gene_symbol: SLC39A8
disease_id: ORPHA:468699
disease_name: SLC39A8-CDG
CDG syndrome type IIn
CDG-IIn
CDG2N
Carbohydrate deficient glycoprotein syndrome type IIn
Congenital disorder of glycosylation type 2n
Congenital disorder of glycosylation type IIn
SLC39A8 deficiency
gene_symbol: SLC39A8
disease_id: OMIM:616721
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn
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: SH2B1
disease_id: ORPHA:261197
disease_name: Proximal 16p11.2 microdeletion syndrome
Proximal del(16)(p11.2)
Proximal monosomy 16p11.2
gene_symbol: SCARF2
disease_id: ORPHA:2460
disease_name: Van den Ende-Gupta syndrome
Marden-Walker-like syndrome
VDEGS
gene_symbol: SCARF2
disease_id: OMIM:600920
disease_name: VAN DEN ENDE-GUPTA SYNDROME
gene_symbol: IFT140
disease_id: OMIM:266920
disease_name: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
gene_symbol: TGFBR1
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: TGFBR1
disease_id: OMIM:609192
disease_name: LOEYS-DIETZ SYNDROME 1
gene_symbol: TGFBR1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: IPO8
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: IPO8
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: TGFB2
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: TGFB2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: TGFB3
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: TGFB3
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: SMAD2
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: SMAD2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: SLC12A6
disease_id: ORPHA:1496
disease_name: Corpus callosum agenesis-neuronopathy syndrome
Andermann syndrome
Charlevoix disease
gene_symbol: CYP26B1
disease_id: OMIM:614416
disease_name: RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES
gene_symbol: HUWE1
disease_id: OMIM:309590
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE
gene_symbol: INTS11
disease_id: OMIM:620428
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES
gene_symbol: RSPRY1
disease_id: OMIM:616723
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE
gene_symbol: RSPRY1
disease_id: ORPHA:457395
disease_name: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
gene_symbol: EBF3
disease_id: ORPHA:96148
disease_name: Distal deletion 10q syndrome
Deletion 10qter
Distal monosomy 10q
Monosomy 10qter
Telomeric deletion 10q
gene_symbol: TANC2
disease_id: OMIM:618906
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES
gene_symbol: CLCN7
disease_id: ORPHA:667
disease_name: Autosomal recessive malignant osteopetrosis
Infantile malignant osteopetrosis
gene_symbol: SNX10
disease_id: ORPHA:667
disease_name: Autosomal recessive malignant osteopetrosis
Infantile malignant osteopetrosis
gene_symbol: TNFSF11
disease_id: ORPHA:667
disease_name: Autosomal recessive malignant osteopetrosis
Infantile malignant osteopetrosis
gene_symbol: OTUD5
disease_id: OMIM:301056
disease_name: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED
gene_symbol: SON
disease_id: OMIM:617140
disease_name: ZTTK SYNDROME
gene_symbol: AASS
disease_id: ORPHA:2203
disease_name: Hyperlysinemia
Hyperlysinemia type I
Lysine alpha-ketoglutarate reductase deficiency
gene_symbol: NFIX
disease_id: OMIM:602535
disease_name: MARSHALL-SMITH SYNDROME
gene_symbol: NFIX
disease_id: ORPHA:561
disease_name: Marshall-Smith syndrome
Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome
gene_symbol: LTBP1
disease_id: OMIM:619451
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE
gene_symbol: IRX5
disease_id: OMIM:611174
disease_name: HAMAMY SYNDROME
gene_symbol: CDT1
disease_id: ORPHA:2554
disease_name: Ear-patella-short stature syndrome
Meier-Gorlin syndrome
gene_symbol: ORC4
disease_id: ORPHA:2554
disease_name: Ear-patella-short stature syndrome
Meier-Gorlin syndrome
gene_symbol: ORC6
disease_id: ORPHA:2554
disease_name: Ear-patella-short stature syndrome
Meier-Gorlin syndrome
gene_symbol: CDC45
disease_id: ORPHA:2554
disease_name: Ear-patella-short stature syndrome
Meier-Gorlin syndrome
gene_symbol: CDC45
disease_id: OMIM:617063
disease_name: MEIER-GORLIN SYNDROME 7
gene_symbol: CDC6
disease_id: ORPHA:2554
disease_name: Ear-patella-short stature syndrome
Meier-Gorlin syndrome
gene_symbol: ORC1
disease_id: ORPHA:2554
disease_name: Ear-patella-short stature syndrome
Meier-Gorlin syndrome
gene_symbol: GMNN
disease_id: ORPHA:2554
disease_name: Ear-patella-short stature syndrome
Meier-Gorlin syndrome
gene_symbol: PSAT1
disease_id: ORPHA:284417
disease_name: Phosphoserine aminotransferase deficiency, infantile/juvenile form
PSAT deficiency, infantile/juvenile form
gene_symbol: RAB23
disease_id: ORPHA:65759
disease_name: Carpenter syndrome
ACPS2
Acrocephalopolysyndactyly type 2
gene_symbol: DONSON
disease_id: OMIM:251230
disease_name: MICROCEPHALY-MICROMELIA SYNDROME
gene_symbol: CTCF
disease_id: ORPHA:363611
disease_name: CTCF-related neurodevelopmental disorder
gene_symbol: LRP5
disease_id: ORPHA:178377
disease_name: Osteosclerosis-developmental delay-craniosynostosis syndrome
gene_symbol: PIGT
disease_id: ORPHA:369837
disease_name: Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
Congenital disorder of glycosylation due to PIGT deficiency
MCAHS type 3
Multiple congenital anomalies-hypotonia-seizures syndrome type 3
PIGT-CDG
gene_symbol: B3GLCT
disease_id: OMIM:261540
disease_name: PETERS-PLUS SYNDROME
gene_symbol: PPP3CA
disease_id: OMIM:618265
disease_name: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT
gene_symbol: CCNQ
disease_id: OMIM:300707
disease_name: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS
gene_symbol: SLC25A24
disease_id: OMIM:612289
disease_name: FONTAINE PROGEROID SYNDROME
gene_symbol: CWC27
disease_id: OMIM:250410
disease_name: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES
gene_symbol: CWC27
disease_id: ORPHA:166035
disease_name: Brachydactyly-short stature-retinitis pigmentosa syndrome
gene_symbol: RTTN
disease_id: ORPHA:468631
disease_name: Microcephalic cortical malformations-short stature due to RTTN deficiency
gene_symbol: FLNB
disease_id: ORPHA:503
disease_name: Larsen syndrome
gene_symbol: AKT1
disease_id: ORPHA:744
disease_name: Proteus syndrome
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
gene_symbol: ZNF699
disease_id: OMIM:619488
disease_name: DEGCAGS SYNDROME
gene_symbol: CEP57
disease_id: OMIM:614114
disease_name: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
gene_symbol: SMO
disease_id: ORPHA:1553
disease_name: Curry-Jones syndrome
Corpus callosum agenesis-polysyndactyly syndrome
gene_symbol: PPP1CB
disease_id: OMIM:617506
disease_name: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
gene_symbol: CBS
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: MFAP5
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: THSD4
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: AEBP1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: FKBP14
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: COL3A1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: PLOD1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: NPR3
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: PMEPA1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: EFEMP1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: EFEMP2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: LTBP3
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: ASPH
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: FBN2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: LOX
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: BGN
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: NPR2
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: ABL1
disease_id: OMIM:182212
disease_name: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
gene_symbol: B3GALT6
disease_id: ORPHA:536467
disease_name: B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
B3GALT6-related spEDS
B3GALT6-related spondylodysplastic EDS
Beta3GalT6-deficient EDS
Ehlers-Danlos syndrome progeroid type 2
spEDS-B3GALT6
gene_symbol: TRAF7
disease_id: OMIM:618164
disease_name: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY
gene_symbol: COLEC10
disease_id: ORPHA:293843
disease_name: 3MC syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
gene_symbol: MASP1
disease_id: ORPHA:293843
disease_name: 3MC syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
gene_symbol: TLK2
disease_id: OMIM:618050
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57
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: KPTN
disease_id: ORPHA:397612
disease_name: Macrocephaly-developmental delay syndrome
gene_symbol: GPC6
disease_id: ORPHA:93329
disease_name: Autosomal recessive omodysplasia
Micromelic dysplasia-dislocation of radius syndrome
gene_symbol: KRT5
disease_id: ORPHA:79396
disease_name: Autosomal dominant generalized epidermolysis bullosa simplex, severe form
Autosomal dominant generalized EBS, severe form
Epidermolysis bullosa simplex herpetiformis
Epidermolysis bullosa simplex, Dowling-Meara type
gene_symbol: KRT14
disease_id: ORPHA:79396
disease_name: Autosomal dominant generalized epidermolysis bullosa simplex, severe form
Autosomal dominant generalized EBS, severe form
Epidermolysis bullosa simplex herpetiformis
Epidermolysis bullosa simplex, Dowling-Meara type
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: RPS6KA3
disease_id: OMIM:303600
disease_name: COFFIN-LOWRY SYNDROME
gene_symbol: ASPA
disease_id: OMIM:271900
disease_name: CANAVAN DISEASE
gene_symbol: HDAC4
disease_id: OMIM:619797
disease_name: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES
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: 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: NCAPG2
disease_id: OMIM:618460
disease_name: KHAN-KHAN-KATSANIS SYNDROME
gene_symbol: POLR3A
disease_id: OMIM:264090
disease_name: WIEDEMANN-RAUTENSTRAUCH SYNDROME
gene_symbol: GRB10
disease_id: ORPHA:96182
disease_name: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
UPD(7)mat
gene_symbol: NLRP3
disease_id: ORPHA:1451
disease_name: CINCA syndrome
Chronic infantile neurological cutaneous and articular syndrome
IOMID syndrome
Infantile-onset multisystem inflammatory disease
NOMID syndrome
Neonatal-onset multisystem inflammatory disease
Prieur-Griscelli syndrome
gene_symbol: SMC3
disease_id: OMIM:610759
disease_name: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
gene_symbol: AIFM1
disease_id: OMIM:300232
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY
gene_symbol: CCDC134
disease_id: OMIM:619795
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XXII
gene_symbol: GNPNAT1
disease_id: OMIM:619598
disease_name: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE
gene_symbol: P4HB
disease_id: OMIM:112240
disease_name: COLE-CARPENTER SYNDROME 1
gene_symbol: P4HB
disease_id: ORPHA:2050
disease_name: Cole-Carpenter syndrome
Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome
gene_symbol: SEC24D
disease_id: ORPHA:2050
disease_name: Cole-Carpenter syndrome
Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome
gene_symbol: SEC24D
disease_id: OMIM:616294
disease_name: COLE-CARPENTER SYNDROME 2
gene_symbol: POGZ
disease_id: OMIM:616364
disease_name: WHITE-SUTTON SYNDROME
gene_symbol: PRKG2
disease_id: OMIM:619638
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE
gene_symbol: ERI1
disease_id: OMIM:620663
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE
gene_symbol: ERI1
disease_id: OMIM:620662
disease_name: HOXHA-ALIU SYNDROME
gene_symbol: PLOD2
disease_id: ORPHA:2771
disease_name: Bruck syndrome
Osteogenesis imperfecta-congenital joint contractures syndrome
gene_symbol: PLOD2
disease_id: OMIM:609220
disease_name: BRUCK SYNDROME 2
gene_symbol: FKBP10
disease_id: ORPHA:2771
disease_name: Bruck syndrome
Osteogenesis imperfecta-congenital joint contractures syndrome
gene_symbol: FKBP10
disease_id: OMIM:610968
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XI
gene_symbol: AFF4
disease_id: ORPHA:444077
disease_name: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
CHOPS syndrome
gene_symbol: LEMD2
disease_id: OMIM:619322
disease_name: MARBACH-RUSTAD PROGEROID SYNDROME
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: TAPT1
disease_id: OMIM:616897
disease_name: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
gene_symbol: RTL1
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: DLK1
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: MEG3
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: NEK1
disease_id: OMIM:252100
disease_name: MOHR SYNDROME
gene_symbol: P3H1
disease_id: OMIM:610915
disease_name: OSTEOGENESIS IMPERFECTA, TYPE VIII
gene_symbol: SCN9A
disease_id: ORPHA:970
disease_name: Hereditary sensory and autonomic neuropathy type 2
Autosomal recessive sensory radicular neuropathy
HSAN2
Hereditary sensory and autonomic neuropathy type II
Neurogenic acroosteolysis
gene_symbol: WNK1
disease_id: ORPHA:970
disease_name: Hereditary sensory and autonomic neuropathy type 2
Autosomal recessive sensory radicular neuropathy
HSAN2
Hereditary sensory and autonomic neuropathy type II
Neurogenic acroosteolysis
gene_symbol: RETREG1
disease_id: ORPHA:970
disease_name: Hereditary sensory and autonomic neuropathy type 2
Autosomal recessive sensory radicular neuropathy
HSAN2
Hereditary sensory and autonomic neuropathy type II
Neurogenic acroosteolysis
gene_symbol: KIF1A
disease_id: ORPHA:970
disease_name: Hereditary sensory and autonomic neuropathy type 2
Autosomal recessive sensory radicular neuropathy
HSAN2
Hereditary sensory and autonomic neuropathy type II
Neurogenic acroosteolysis
gene_symbol: KDELR2
disease_id: OMIM:619131
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XXI
gene_symbol: TENT5A
disease_id: OMIM:617952
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XVIII
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: BCL11B
disease_id: OMIM:617237
disease_name: IMMUNODEFICIENCY 49
gene_symbol: CHD4
disease_id: OMIM:617159
disease_name: SIFRIM-HITZ-WEISS SYNDROME
gene_symbol: MESD
disease_id: OMIM:618644
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XX
gene_symbol: CREB3L1
disease_id: OMIM:616229
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XVI
gene_symbol: PPIB
disease_id: OMIM:259440
disease_name: OSTEOGENESIS IMPERFECTA, TYPE IX
gene_symbol: GORAB
disease_id: OMIM:231070
disease_name: GERODERMA OSTEODYSPLASTICUM
gene_symbol: IFITM5
disease_id: OMIM:610967
disease_name: OSTEOGENESIS IMPERFECTA, TYPE V
gene_symbol: SFRP4
disease_id: ORPHA:3005
disease_name: Pyle disease
Metaphyseal dysplasia, Pyle type
SFRP4-related Pyle disease
gene_symbol: TMEM38B
disease_id: OMIM:615066
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XIV
gene_symbol: THRA
disease_id: OMIM:614450
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
gene_symbol: BMP1
disease_id: OMIM:614856
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XIII
gene_symbol: ARID2
disease_id: OMIM:617808
disease_name: COFFIN-SIRIS SYNDROME 6
gene_symbol: SETBP1
disease_id: OMIM:269150
disease_name: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME
gene_symbol: SETBP1
disease_id: ORPHA:798
disease_name: Schinzel-Giedion syndrome
SGS
gene_symbol: SP7
disease_id: OMIM:613849
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XII
gene_symbol: ERF
disease_id: OMIM:600775
disease_name: CRANIOSYNOSTOSIS 4
gene_symbol: IL11RA
disease_id: OMIM:614188
disease_name: CRANIOSYNOSTOSIS AND DENTAL ANOMALIES
gene_symbol: TCOF1
disease_id: OMIM:154500
disease_name: TREACHER COLLINS SYNDROME 1
gene_symbol: BPNT2
disease_id: OMIM:614078
disease_name: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE
gene_symbol: SPECC1L
disease_id: OMIM:145420
disease_name: HYPERTELORISM, TEEBI TYPE
gene_symbol: POLA1
disease_id: ORPHA:163976
disease_name: X-linked intellectual disability, Van Esch type
gene_symbol: DPF2
disease_id: OMIM:618027
disease_name: COFFIN-SIRIS SYNDROME 7
gene_symbol: FBXO11
disease_id: OMIM:618089
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
gene_symbol: TCF12
disease_id: OMIM:615314
disease_name: CRANIOSYNOSTOSIS 3
gene_symbol: DPH1
disease_id: OMIM:616901
disease_name: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR
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: DNMT3A
disease_id: OMIM:615879
disease_name: TATTON-BROWN-RAHMAN SYNDROME
gene_symbol: KRAS
disease_id: OMIM:609942
disease_name: NOONAN SYNDROME 3
gene_symbol: ATP6V1B2
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
gene_symbol: TBC1D24
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
gene_symbol: EIF4A2
disease_id: OMIM:620455
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES
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: BMP4
disease_id: OMIM:607932
disease_name: MICROPHTHALMIA, SYNDROMIC 6
gene_symbol: SLC4A10
disease_id: OMIM:620746
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES
gene_symbol: ANKRD11
disease_id: ORPHA:2332
disease_name: KBG syndrome
ANKRD11-related disorder
Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome
gene_symbol: TOMM7
disease_id: OMIM:620601
disease_name: GARG-MISHRA PROGEROID SYNDROME
gene_symbol: GH1
disease_id: OMIM:262400
disease_name: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA
gene_symbol: GPX4
disease_id: OMIM:250220
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE
gene_symbol: ACE
disease_id: OMIM:267430
disease_name: RENAL TUBULAR DYSGENESIS
gene_symbol: AGT
disease_id: OMIM:267430
disease_name: RENAL TUBULAR DYSGENESIS
gene_symbol: AGTR1
disease_id: OMIM:267430
disease_name: RENAL TUBULAR DYSGENESIS
gene_symbol: REN
disease_id: OMIM:267430
disease_name: RENAL TUBULAR DYSGENESIS
gene_symbol: SLC34A3
disease_id: OMIM:241530
disease_name: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY
gene_symbol: VDR
disease_id: OMIM:277440
disease_name: VITAMIN D-DEPENDENT RICKETS, TYPE 2A
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: MMP2
disease_id: OMIM:259600
disease_name: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY
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: COL11A1
disease_id: OMIM:228520
disease_name: FIBROCHONDROGENESIS 1
gene_symbol: CTSD
disease_id: OMIM:610127
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 10
gene_symbol: ERCC1
disease_id: OMIM:610758
disease_name: CEREBROOCULOFACIOSKELETAL SYNDROME 4
gene_symbol: HNRNPU
disease_id: ORPHA:238769
disease_name: 1q44 microdeletion syndrome
Del(1)(q44)
Monosomy 1q44
gene_symbol: ZNF462
disease_id: ORPHA:502430
disease_name: Weiss-Kruszka Syndrome
Metopic ridging-ptosis-facial dysmorphism syndrome
gene_symbol: ZNF462
disease_id: OMIM:618619
disease_name: WEISS-KRUSZKA SYNDROME
gene_symbol: ADSL
disease_id: OMIM:103050
disease_name: ADENYLOSUCCINASE DEFICIENCY
gene_symbol: ADSL
disease_id: ORPHA:46
disease_name: Adenylosuccinate lyase deficiency
ADSL deficiency
Adenylosuccinase deficiency
gene_symbol: PPP2R1A
disease_id: OMIM:616362
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
gene_symbol: PPP2R1A
disease_id: ORPHA:457284
disease_name: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
gene_symbol: FBXL4
disease_id: OMIM:615471
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
gene_symbol: SC5D
disease_id: ORPHA:46059
disease_name: Lathosterolosis
Sterol C5-desaturase deficiency
gene_symbol: ADARB1
disease_id: OMIM:618862
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES
gene_symbol: FOXG1
disease_id: ORPHA:261144
disease_name: FOXG1 syndrome due to 14q12 microdeletion
Del(14)(q12)
Monosomy 14q12
gene_symbol: KDM5B
disease_id: OMIM:618109
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65
gene_symbol: SRCAP
disease_id: OMIM:136140
disease_name: FLOATING-HARBOR SYNDROME
gene_symbol: H3-3B
disease_id: OMIM:619721
disease_name: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2
gene_symbol: MAPK1
disease_id: OMIM:619087
disease_name: NOONAN SYNDROME 13
gene_symbol: KDM4B
disease_id: OMIM:619320
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65
gene_symbol: LMX1B
disease_id: ORPHA:495818
disease_name: 9q33.3q34.11 microdeletion syndrome
Del(9)(q33.3q34.11)
Deletion 9q33.3q34.11
Monosomy 9q33.3q34.11
gene_symbol: STXBP1
disease_id: ORPHA:495818
disease_name: 9q33.3q34.11 microdeletion syndrome
Del(9)(q33.3q34.11)
Deletion 9q33.3q34.11
Monosomy 9q33.3q34.11
gene_symbol: CAMSAP1
disease_id: OMIM:620316
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12
gene_symbol: ERMARD
disease_id: ORPHA:75857
disease_name: 6q terminal deletion syndrome
gene_symbol: ATIC
disease_id: OMIM:608688
disease_name: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY
gene_symbol: KCNJ11
disease_id: ORPHA:79134
disease_name: DEND syndrome
Developmental delay-epilepsy-neonatal diabetes syndrome
gene_symbol: KCNJ11
disease_id: ORPHA:99885
disease_name: Isolated permanent neonatal diabetes mellitus
Isolated PNDM
Monogenic diabetes of infancy
gene_symbol: KCNJ11
disease_id: OMIM:618856
disease_name: DIABETES MELLITUS, PERMANENT NEONATAL, 2
gene_symbol: NARS2
disease_id: ORPHA:79134
disease_name: DEND syndrome
Developmental delay-epilepsy-neonatal diabetes syndrome
gene_symbol: ABCC8
disease_id: ORPHA:79134
disease_name: DEND syndrome
Developmental delay-epilepsy-neonatal diabetes syndrome
gene_symbol: ABCC8
disease_id: ORPHA:99885
disease_name: Isolated permanent neonatal diabetes mellitus
Isolated PNDM
Monogenic diabetes of infancy
gene_symbol: GCK
disease_id: ORPHA:99885
disease_name: Isolated permanent neonatal diabetes mellitus
Isolated PNDM
Monogenic diabetes of infancy
gene_symbol: PDX1
disease_id: ORPHA:99885
disease_name: Isolated permanent neonatal diabetes mellitus
Isolated PNDM
Monogenic diabetes of infancy
gene_symbol: INS
disease_id: ORPHA:99885
disease_name: Isolated permanent neonatal diabetes mellitus
Isolated PNDM
Monogenic diabetes of infancy
gene_symbol: MAP1B
disease_id: OMIM:618918
disease_name: PERIVENTRICULAR NODULAR HETEROTOPIA 9
gene_symbol: ERCC6
disease_id: ORPHA:1466
disease_name: COFS syndrome
Cerebrooculofacioskeletal syndrome
Pena-Shokeir syndrome type 2
gene_symbol: ERCC5
disease_id: ORPHA:1466
disease_name: COFS syndrome
Cerebrooculofacioskeletal syndrome
Pena-Shokeir syndrome type 2
gene_symbol: NUP188
disease_id: OMIM:618804
disease_name: SANDESTIG-STEFANOVA SYNDROME
gene_symbol: TBCK
disease_id: OMIM:616900
disease_name: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
gene_symbol: TBCK
disease_id: ORPHA:488632
disease_name: TBCK-related intellectual disability syndrome
gene_symbol: NSRP1
disease_id: OMIM:620001
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES
gene_symbol: TOGARAM1
disease_id: OMIM:619185
disease_name: JOUBERT SYNDROME 37
gene_symbol: ASXL1
disease_id: ORPHA:97297
disease_name: Bohring-Opitz syndrome
BOS syndrome
Bohring syndrome
C-like syndrome
Oberklaid-Danks syndrome
Opitz trigonocephaly-like syndrome
gene_symbol: ASXL1
disease_id: OMIM:605039
disease_name: BOHRING-OPITZ SYNDROME
gene_symbol: ZNF292
disease_id: OMIM:619188
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64
gene_symbol: GJA8
disease_id: OMIM:612474
disease_name: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
gene_symbol: GJA5
disease_id: OMIM:612474
disease_name: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
gene_symbol: ADAMTSL1
disease_id: ORPHA:521445
disease_name: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
gene_symbol: SMARCD1
disease_id: OMIM:618779
disease_name: COFFIN-SIRIS SYNDROME 11
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: CRELD1
disease_id: OMIM:620771
disease_name: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME
gene_symbol: PURA
disease_id: ORPHA:314655
disease_name: Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
5q31.3 microdeletion syndrome
Del(5)(q31.3)
Monosomy 5q31.3
gene_symbol: UBR1
disease_id: OMIM:243800
disease_name: JOHANSON-BLIZZARD SYNDROME
gene_symbol: VAC14
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: AGO2
disease_id: OMIM:619149
disease_name: LESSEL-KREIENKAMP SYNDROME
gene_symbol: CYP27B1
disease_id: ORPHA:289157
disease_name: Hypocalcemic vitamin D-dependent rickets
1-alpha-hydroxylase deficiency
PDDRI
Pseudovitamin D-deficient rickets
VDDI
VDDR-I
Vitamin D dependent rickets type I
Vitamin D-dependency type I
gene_symbol: CYP2R1
disease_id: ORPHA:289157
disease_name: Hypocalcemic vitamin D-dependent rickets
1-alpha-hydroxylase deficiency
PDDRI
Pseudovitamin D-deficient rickets
VDDI
VDDR-I
Vitamin D dependent rickets type I
Vitamin D-dependency type I
gene_symbol: TRPV6
disease_id: OMIM:618188
disease_name: HYPERPARATHYROIDISM, TRANSIENT NEONATAL
gene_symbol: BANF1
disease_id: OMIM:614008
disease_name: NESTOR-GUILLERMO PROGERIA SYNDROME
gene_symbol: PTH1R
disease_id: ORPHA:33067
disease_name: Metaphyseal chondrodysplasia, Jansen type
gene_symbol: CEP120
disease_id: OMIM:616300
disease_name: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY
gene_symbol: PIGO
disease_id: OMIM:614749
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
gene_symbol: ZEB2
disease_id: ORPHA:261537
disease_name: Mowat-Wilson syndrome due to monosomy 2q22
Hirschsprung disease and intellectual disability due to 2q22 microdeletion
Hirschsprung disease and intellectual disability due to del(2)(q22)
Hirschsprung disease and intellectual disability due to monosomy 2q22
Mowat-Wilson syndrome due to 2q22 microdeletion
Mowat-Wilson syndrome due to del(2)q(22)
gene_symbol: ZEB2
disease_id: ORPHA:261552
disease_name: Mowat-Wilson syndrome due to a ZEB2 point mutation
Hirschsprung disease and intellectual disability due to a ZEB2 point mutation
gene_symbol: SCUBE3
disease_id: OMIM:619184
disease_name: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2
gene_symbol: H4C9
disease_id: OMIM:619951
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4
gene_symbol: RAC3
disease_id: OMIM:618577
disease_name: NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES
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: 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: 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: TRIM33
disease_id: ORPHA:2412
disease_name: Dislocation of the hip-dysmorphism syndrome
Collins-Pope syndrome
gene_symbol: NDE1
disease_id: ORPHA:2177
disease_name: Hydranencephaly
gene_symbol: ATRX
disease_id: ORPHA:847
disease_name: X-linked alpha-thalassemia-intellectual disability syndrome
ATR-X syndrome
gene_symbol: HERC1
disease_id: ORPHA:457359
disease_name: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
gene_symbol: FREM1
disease_id: OMIM:614485
disease_name: TRIGONOCEPHALY 2
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: CDK8
disease_id: OMIM:618748
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES
gene_symbol: TMEM216
disease_id: OMIM:608091
disease_name: JOUBERT SYNDROME 2
gene_symbol: PPFIBP1
disease_id: OMIM:620024
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES
gene_symbol: PTCH1
disease_id: ORPHA:77301
disease_name: Monosomy 9q22.3 syndrome
Microdeletion 9q22.3
gene_symbol: DIAPH1
disease_id: ORPHA:477814
disease_name: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
gene_symbol: PCDHGC4
disease_id: OMIM:619880
disease_name: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES
gene_symbol: DDB1
disease_id: OMIM:619426
disease_name: WHITE-KERNOHAN SYNDROME
gene_symbol: GPC3
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: GPC4
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: UBAP2L
disease_id: OMIM:620494
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES