Phenotype: Abnormal hallux morphology (HP:0001844)
Associated genes and diseases:
gene_symbol: YY1
disease_id: ORPHA:506358
disease_name: Gabriele-de Vries syndrome
YY1 haploinsufficiency syndrome
gene_symbol: YY1
disease_id: OMIM:617557
disease_name: GABRIELE-DE VRIES SYNDROME
gene_symbol: GNPNAT1
disease_id: OMIM:619598
disease_name: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE
gene_symbol: H4C9
disease_id: OMIM:619951
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4
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: DYRK1A
disease_id: OMIM:614104
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
gene_symbol: ATL3
disease_id: OMIM:615632
disease_name: NEUROPATHY, HEREDITARY SENSORY, TYPE IF
gene_symbol: TCF12
disease_id: OMIM:615314
disease_name: CRANIOSYNOSTOSIS 3
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: NUP107
disease_id: OMIM:618348
disease_name: GALLOWAY-MOWAT SYNDROME 7
gene_symbol: KDM5A
disease_id: OMIM:620820
disease_name: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL 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: AKT1
disease_id: ORPHA:744
disease_name: Proteus syndrome
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
gene_symbol: HEATR3
disease_id: OMIM:620072
disease_name: DIAMOND-BLACKFAN ANEMIA 21
gene_symbol: SLC29A3
disease_id: OMIM:602782
disease_name: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME
gene_symbol: SLC29A3
disease_id: ORPHA:168569
disease_name: H syndrome
gene_symbol: ERF
disease_id: OMIM:617180
disease_name: CHITAYAT SYNDROME
gene_symbol: SLC16A2
disease_id: OMIM:300523
disease_name: ALLAN-HERNDON-DUDLEY SYNDROME
gene_symbol: NONO
disease_id: OMIM:300967
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 34
gene_symbol: NONO
disease_id: ORPHA:466791
disease_name: Macrocephaly-intellectual disability-left ventricular non compaction syndrome
gene_symbol: COL1A2
disease_id: ORPHA:230851
disease_name: Cardiac-valvular Ehlers-Danlos syndrome
Cardiac-valvular EDS
cvEDS
gene_symbol: COL1A2
disease_id: OMIM:617821
disease_name: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2
gene_symbol: PCDHGC4
disease_id: OMIM:619880
disease_name: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES
gene_symbol: ITCH
disease_id: OMIM:613385
disease_name: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM
gene_symbol: MYH3
disease_id: OMIM:618436
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 2B3
gene_symbol: SOX9
disease_id: OMIM:114290
disease_name: CAMPOMELIC DYSPLASIA
gene_symbol: SCAF4
disease_id: OMIM:620511
disease_name: FLIEDNER-ZWEIER SYNDROME
gene_symbol: ERMARD
disease_id: ORPHA:75857
disease_name: 6q terminal deletion syndrome
gene_symbol: MLXIPL
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: FHL1
disease_id: OMIM:300280
disease_name: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME
gene_symbol: PRDM5
disease_id: ORPHA:90354
disease_name: Brittle cornea syndrome
Ehlers-Danlos syndrome type 6B
gene_symbol: ZNF469
disease_id: ORPHA:90354
disease_name: Brittle cornea syndrome
Ehlers-Danlos syndrome type 6B
gene_symbol: RBBP8
disease_id: OMIM:251255
disease_name: JAWAD SYNDROME
gene_symbol: B3GALT6
disease_id: OMIM:271640
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES
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: TP63
disease_id: OMIM:603543
disease_name: LIMB-MAMMARY SYNDROME
gene_symbol: NFIX
disease_id: OMIM:602535
disease_name: MARSHALL-SMITH SYNDROME
gene_symbol: GBA1
disease_id: ORPHA:2072
disease_name: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Cardiovascular Gaucher disease
Gaucher disease type 3C
Gaucher-like disease
gene_symbol: AEBP1
disease_id: OMIM:618000
disease_name: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2
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: SPTAN1
disease_id: OMIM:620528
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11
gene_symbol: USP7
disease_id: OMIM:616863
disease_name: HAO-FOUNTAIN SYNDROME
gene_symbol: PYCR1
disease_id: OMIM:612940
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB
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: SMARCA2
disease_id: OMIM:601358
disease_name: NICOLAIDES-BARAITSER SYNDROME
gene_symbol: CDKL5
disease_id: ORPHA:505652
disease_name: CDKL5-deficiency disorder
CDD
gene_symbol: COL1A1
disease_id: OMIM:130060
disease_name: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1
gene_symbol: TTI2
disease_id: OMIM:615541
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
gene_symbol: EHMT1
disease_id: OMIM:610253
disease_name: KLEEFSTRA SYNDROME 1
gene_symbol: SRY
disease_id: ORPHA:1772
disease_name: 45,X/46,XY mixed gonadal dysgenesis
45,X/46,XY MGD
45,X0/46,XY MGD
45,X0/46,XY mixed gonadal dysgenesis
gene_symbol: ATP6V1B2
disease_id: ORPHA:3473
disease_name: Zimmermann-Laband syndrome
Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome
Laband syndrome
gene_symbol: PSMB8
disease_id: OMIM:256040
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
gene_symbol: IFT172
disease_id: OMIM:619471
disease_name: BARDET-BIEDL SYNDROME 20
gene_symbol: CPLANE1
disease_id: OMIM:277170
disease_name: OROFACIODIGITAL SYNDROME VI
gene_symbol: SMO
disease_id: OMIM:601707
disease_name: CURRY-JONES SYNDROME
gene_symbol: KIF7
disease_id: OMIM:614120
disease_name: HYDROLETHALUS SYNDROME 2
gene_symbol: KIF7
disease_id: OMIM:200990
disease_name: ACROCALLOSAL SYNDROME
gene_symbol: RAB34
disease_id: OMIM:620718
disease_name: OROFACIODIGITAL SYNDROME XX
gene_symbol: GLI3
disease_id: OMIM:175700
disease_name: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
gene_symbol: GLI3
disease_id: ORPHA:380
disease_name: Greig cephalopolysyndactyly syndrome
GCPS
gene_symbol: GLI3
disease_id: OMIM:174200
disease_name: POLYDACTYLY, POSTAXIAL, TYPE A1
gene_symbol: GLI3
disease_id: OMIM:146510
disease_name: PALLISTER-HALL SYNDROME
gene_symbol: LMBR1
disease_id: ORPHA:2378
disease_name: Laurin-Sandrow syndrome
Mirror hands and feets-nasal defects syndrome
Sandrow syndrome
gene_symbol: FGFR2
disease_id: ORPHA:1540
disease_name: Jackson-Weiss syndrome
Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
JWS
gene_symbol: ZSWIM6
disease_id: ORPHA:1827
disease_name: Acromelic frontonasal dysplasia
AFND
Acromelic frontonasal dysostosis
Toriello syndrome
gene_symbol: ZSWIM6
disease_id: OMIM:603671
disease_name: ACROMELIC FRONTONASAL DYSOSTOSIS
gene_symbol: NEK1
disease_id: ORPHA:2751
disease_name: Orofaciodigital syndrome type 2
Mohr syndrome
OFD2
Oral-facial-digital syndrome type 2
gene_symbol: NEK1
disease_id: OMIM:252100
disease_name: MOHR SYNDROME
gene_symbol: HOXD13
disease_id: OMIM:186000
disease_name: SYNPOLYDACTYLY 1
gene_symbol: PITX1
disease_id: OMIM:119800
disease_name: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY
gene_symbol: RAB23
disease_id: OMIM:201000
disease_name: CARPENTER SYNDROME 1
gene_symbol: RAB23
disease_id: ORPHA:65759
disease_name: Carpenter syndrome
ACPS2
Acrocephalopolysyndactyly type 2
gene_symbol: MEGF8
disease_id: ORPHA:65759
disease_name: Carpenter syndrome
ACPS2
Acrocephalopolysyndactyly type 2
gene_symbol: NSD2
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: CPLX1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: CTBP1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: FGFRL1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: LETM1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: PTRH2
disease_id: ORPHA:456312
disease_name: Infantile multisystem neurologic-endocrine-pancreatic disease
IMNEPD
gene_symbol: ACVR1
disease_id: ORPHA:337
disease_name: Fibrodysplasia ossificans progressiva
FOP
Myositis ossificans progressiva
Stone man syndrome
gene_symbol: NPR2
disease_id: OMIM:602875
disease_name: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
gene_symbol: NPR2
disease_id: OMIM:615923
disease_name: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
gene_symbol: POLR3GL
disease_id: OMIM:619234
disease_name: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY
gene_symbol: GNE
disease_id: OMIM:269921
disease_name: SIALURIA
gene_symbol: GNE
disease_id: ORPHA:3166
disease_name: Sialuria
Sialuria, French type
gene_symbol: FIBP
disease_id: ORPHA:500095
disease_name: Tall stature-intellectual disability-renal anomalies syndrome
Thauvin-Robinet-Faivre syndrome
gene_symbol: FIBP
disease_id: OMIM:617107
disease_name: THAUVIN-ROBINET-FAIVRE SYNDROME
gene_symbol: TRAF7
disease_id: OMIM:618164
disease_name: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY
gene_symbol: NKX3-2
disease_id: OMIM:613330
disease_name: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA
gene_symbol: SMS
disease_id: OMIM:309583
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE
gene_symbol: SOX5
disease_id: OMIM:616803
disease_name: LAMB-SHAFFER SYNDROME
gene_symbol: GNAI1
disease_id: OMIM:619854
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
gene_symbol: DPM1
disease_id: ORPHA:79322
disease_name: DPM1-CDG
CDG syndrome type Ie
CDG-Ie
CDG1E
Carbohydrate deficient glycoprotein syndrome type Ie
Congenital disorder of glycosylation type 1e
Congenital disorder of glycosylation type Ie
Dol-P-mannosyltransferase deficiency
gene_symbol: KCNH1
disease_id: OMIM:611816
disease_name: TEMPLE-BARAITSER SYNDROME
gene_symbol: KCNH1
disease_id: ORPHA:420561
disease_name: Temple-Baraitser syndrome
Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome
TMBTS
gene_symbol: PTH1R
disease_id: OMIM:600002
disease_name: EIKEN SYNDROME
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: ZNF668
disease_id: OMIM:620194
disease_name: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES
gene_symbol: NPR3
disease_id: OMIM:619543
disease_name: BOUDIN-MORTIER SYNDROME
gene_symbol: SCARF2
disease_id: OMIM:600920
disease_name: VAN DEN ENDE-GUPTA SYNDROME
gene_symbol: KAT6B
disease_id: OMIM:603736
disease_name: OHDO SYNDROME, SBBYS VARIANT
gene_symbol: PRKAR1A
disease_id: OMIM:101800
disease_name: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE
gene_symbol: KCNN3
disease_id: OMIM:618658
disease_name: ZIMMERMANN-LABAND SYNDROME 3
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: KMT2A
disease_id: OMIM:605130
disease_name: WIEDEMANN-STEINER SYNDROME
gene_symbol: FAM20C
disease_id: OMIM:259775
disease_name: RAINE SYNDROME
gene_symbol: GCH1
disease_id: ORPHA:98808
disease_name: Autosomal dominant dopa-responsive dystonia
Autosomal dominant Segawa syndrome
DYT5a
GTPCH1-deficient DRD
GTPCH1-deficient dopa-responsive dystonia
HPD with marked diurnal fluctuation
Hereditary progressive dystonia with marked diurnal fluctuation
gene_symbol: NR4A2
disease_id: ORPHA:98808
disease_name: Autosomal dominant dopa-responsive dystonia
Autosomal dominant Segawa syndrome
DYT5a
GTPCH1-deficient DRD
GTPCH1-deficient dopa-responsive dystonia
HPD with marked diurnal fluctuation
Hereditary progressive dystonia with marked diurnal fluctuation
gene_symbol: IMPDH2
disease_id: ORPHA:98808
disease_name: Autosomal dominant dopa-responsive dystonia
Autosomal dominant Segawa syndrome
DYT5a
GTPCH1-deficient DRD
GTPCH1-deficient dopa-responsive dystonia
HPD with marked diurnal fluctuation
Hereditary progressive dystonia with marked diurnal fluctuation
gene_symbol: HSPB1
disease_id: OMIM:608634
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
gene_symbol: HSPB8
disease_id: OMIM:158590
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA
gene_symbol: MFN2
disease_id: ORPHA:99947
disease_name: Autosomal dominant Charcot-Marie-Tooth disease type 2A2
CMT2A2
gene_symbol: FIG4
disease_id: OMIM:216340
disease_name: YUNIS-VARON SYNDROME
gene_symbol: BHLHA9
disease_id: ORPHA:157801
disease_name: Mesoaxial synostotic syndactyly with phalangeal reduction
MSSD
Syndactyly type 9
Syndactyly, Malik-Percin type
gene_symbol: BHLHA9
disease_id: OMIM:609432
disease_name: SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION
gene_symbol: CREBBP
disease_id: ORPHA:353277
disease_name: Rubinstein-Taybi syndrome due to CREBBP mutations
gene_symbol: KAT6A
disease_id: OMIM:616268
disease_name: ARBOLEDA-THAM SYNDROME
gene_symbol: EP300
disease_id: ORPHA:353284
disease_name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
gene_symbol: C2CD3
disease_id: ORPHA:434179
disease_name: Orofaciodigital syndrome type 14
Microcephaly-cerebral malformation-orofaciodigital syndrome
OFD14
Oral-facial-digital syndrome type 14
gene_symbol: EBP
disease_id: ORPHA:401973
disease_name: MEND syndrome
Male EBP disorder with neurological defects
gene_symbol: EBP
disease_id: OMIM:300960
disease_name: MEND SYNDROME
gene_symbol: BMPR1B
disease_id: OMIM:112600
disease_name: BRACHYDACTYLY, TYPE A2
gene_symbol: BMP2
disease_id: OMIM:112600
disease_name: BRACHYDACTYLY, TYPE A2
gene_symbol: GDF5
disease_id: OMIM:112600
disease_name: BRACHYDACTYLY, TYPE A2
gene_symbol: PUF60
disease_id: ORPHA:508498
disease_name: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene
gene_symbol: SMC1A
disease_id: OMIM:301044
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
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: ADNP
disease_id: OMIM:615873
disease_name: HELSMOORTEL-VAN DER AA SYNDROME
gene_symbol: SF3B4
disease_id: OMIM:154400
disease_name: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE
gene_symbol: SIAH1
disease_id: OMIM:619314
disease_name: BURATTI-HAREL SYNDROME
gene_symbol: DNM1L
disease_id: OMIM:614388
disease_name: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 1
gene_symbol: SATB2
disease_id: ORPHA:251028
disease_name: SATB2-associated syndrome due to a chromosomal rearrangement
2q33.1 microdeletion syndrome
Del(2)(q33.1)
Monosomy 2q33.1
gene_symbol: NOG
disease_id: OMIM:184460
disease_name: STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES
gene_symbol: DVL1
disease_id: OMIM:616331
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
gene_symbol: USP9X
disease_id: OMIM:300919
disease_name: MENTAL RETARDATION, X-LINKED 99
gene_symbol: GPC4
disease_id: OMIM:301026
disease_name: KEIPERT 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: NXN
disease_id: OMIM:618529
disease_name: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2
gene_symbol: PYCR2
disease_id: ORPHA:481152
disease_name: PYCR2-related microcephaly-progressive leukoencephalopathy
gene_symbol: WDPCP
disease_id: OMIM:217085
disease_name: CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY
gene_symbol: ACAN
disease_id: OMIM:165800
disease_name: SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS
gene_symbol: ASPH
disease_id: OMIM:601552
disease_name: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS
gene_symbol: UBE2A
disease_id: OMIM:300860
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
gene_symbol: SETD5
disease_id: ORPHA:435638
disease_name: 3p25.3 microdeletion syndrome
Del(3)p(25.3)
Intellectual disability-epilepsy-stereotypic hand movement syndrome
Monosomy 3p25.3
gene_symbol: BRPF1
disease_id: ORPHA:435638
disease_name: 3p25.3 microdeletion syndrome
Del(3)p(25.3)
Intellectual disability-epilepsy-stereotypic hand movement syndrome
Monosomy 3p25.3
gene_symbol: MEIS2
disease_id: OMIM:600987
disease_name: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION
gene_symbol: SETBP1
disease_id: OMIM:616078
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
gene_symbol: PDE4D
disease_id: ORPHA:439822
disease_name: PDE4D haploinsufficiency syndrome
gene_symbol: ZMIZ1
disease_id: OMIM:618659
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
gene_symbol: LBR
disease_id: OMIM:618019
disease_name: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
gene_symbol: TWIST1
disease_id: OMIM:180750
disease_name: ROBINOW-SORAUF SYNDROME
gene_symbol: COL2A1
disease_id: ORPHA:1856
disease_name: Spondyloperipheral dysplasia-short ulna syndrome
gene_symbol: EFNB1
disease_id: OMIM:304110
disease_name: CRANIOFRONTONASAL SYNDROME
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: IL11RA
disease_id: OMIM:614188
disease_name: CRANIOSYNOSTOSIS AND DENTAL ANOMALIES
gene_symbol: CDK10
disease_id: OMIM:617694
disease_name: AL KAISSI SYNDROME
gene_symbol: FGF9
disease_id: OMIM:612961
disease_name: MULTIPLE SYNOSTOSES SYNDROME 3
gene_symbol: SCNM1
disease_id: OMIM:620107
disease_name: OROFACIODIGITAL SYNDROME XIX
gene_symbol: ALDH6A1
disease_id: OMIM:614105
disease_name: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
gene_symbol: PIGO
disease_id: OMIM:614749
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
gene_symbol: TRPM3
disease_id: OMIM:620224
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES
gene_symbol: KMT2D
disease_id: OMIM:620186
disease_name: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME
gene_symbol: SUMF1
disease_id: OMIM:272200
disease_name: MULTIPLE SULFATASE DEFICIENCY
gene_symbol: ABCC9
disease_id: OMIM:239850
disease_name: CANTU SYNDROME
gene_symbol: HNRNPR
disease_id: OMIM:620073
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES
gene_symbol: CSNK2A1
disease_id: OMIM:617062
disease_name: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
gene_symbol: FLNA
disease_id: OMIM:300321
disease_name: FG SYNDROME 2
gene_symbol: FLNA
disease_id: OMIM:304120
disease_name: OTOPALATODIGITAL SYNDROME, TYPE II
gene_symbol: FLNA
disease_id: OMIM:311300
disease_name: OTOPALATODIGITAL SYNDROME, TYPE I
gene_symbol: BCOR
disease_id: OMIM:300166
disease_name: MICROPHTHALMIA, SYNDROMIC 2
gene_symbol: CCDC22
disease_id: OMIM:300963
disease_name: RITSCHER-SCHINZEL SYNDROME 2
gene_symbol: TNNT3
disease_id: OMIM:618435
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 2B2
gene_symbol: FGFR1
disease_id: OMIM:123150
disease_name: JACKSON-WEISS SYNDROME
gene_symbol: FGFR1
disease_id: OMIM:101600
disease_name: PFEIFFER SYNDROME
gene_symbol: MED12
disease_id: OMIM:305450
disease_name: OPITZ-KAVEGGIA SYNDROME
gene_symbol: NKX2-5
disease_id: OMIM:217095
disease_name: CONOTRUNCAL HEART MALFORMATIONS
gene_symbol: TBX1
disease_id: OMIM:217095
disease_name: CONOTRUNCAL HEART MALFORMATIONS
gene_symbol: NKX2-6
disease_id: OMIM:217095
disease_name: CONOTRUNCAL HEART MALFORMATIONS
gene_symbol: GATA6
disease_id: OMIM:217095
disease_name: CONOTRUNCAL HEART MALFORMATIONS
gene_symbol: DLX5
disease_id: OMIM:183600
disease_name: SPLIT-HAND/FOOT MALFORMATION 1
gene_symbol: ROR2
disease_id: OMIM:268310
disease_name: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1
gene_symbol: CHST11
disease_id: OMIM:618167
disease_name: OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS
gene_symbol: BPTF
disease_id: OMIM:617755
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES
gene_symbol: RHOA
disease_id: OMIM:618727
disease_name: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES
gene_symbol: NBAS
disease_id: OMIM:614800
disease_name: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
gene_symbol: KMT2B
disease_id: OMIM:619934
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68
gene_symbol: FGFR3
disease_id: OMIM:602849
disease_name: MUENKE SYNDROME
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: KIAA0753
disease_id: OMIM:617127
disease_name: OROFACIODIGITAL SYNDROME XV
gene_symbol: TAF6
disease_id: OMIM:617126
disease_name: ALAZAMI-YUAN SYNDROME
gene_symbol: UBAP2L
disease_id: OMIM:620494
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES
gene_symbol: LRP4
disease_id: OMIM:212780
disease_name: CENANI-LENZ SYNDACTYLY SYNDROME
gene_symbol: CTCF
disease_id: ORPHA:363611
disease_name: CTCF-related neurodevelopmental disorder
gene_symbol: GATA4
disease_id: ORPHA:251071
disease_name: 8p23.1 microdeletion syndrome
Del(8)(p23.1)
Monosomy 8p23.1
gene_symbol: SALL1
disease_id: ORPHA:857
disease_name: Townes-Brocks syndrome
Imperforate anus-hand, foot and ear anomalies syndrome
REAR syndrome
Renal-ear-anal-radial syndrome
Sensorineural deafness with imperforate anus and hypoplastic thumbs
Sensorineural hearing loss with imperforate anus and hypoplastic thumbs
TBS
Townes syndrome
gene_symbol: DACT1
disease_id: ORPHA:857
disease_name: Townes-Brocks syndrome
Imperforate anus-hand, foot and ear anomalies syndrome
REAR syndrome
Renal-ear-anal-radial syndrome
Sensorineural deafness with imperforate anus and hypoplastic thumbs
Sensorineural hearing loss with imperforate anus and hypoplastic thumbs
TBS
Townes syndrome
gene_symbol: ACTB
disease_id: OMIM:243310
disease_name: BARAITSER-WINTER SYNDROME 1
gene_symbol: NIPBL
disease_id: OMIM:122470
disease_name: CORNELIA DE LANGE SYNDROME 1
gene_symbol: HYLS1
disease_id: OMIM:236680
disease_name: HYDROLETHALUS SYNDROME 1
gene_symbol: MAP3K20
disease_id: ORPHA:488232
disease_name: Split-foot malformation-mesoaxial polydactyly syndrome
SFMMP
Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome
gene_symbol: PTHLH
disease_id: ORPHA:93387
disease_name: Brachydactyly type E
gene_symbol: TBR1
disease_id: ORPHA:1617
disease_name: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
Del(2)(q24)
Monosomy 2q24
gene_symbol: CANT1
disease_id: OMIM:251450
disease_name: DESBUQUOIS DYSPLASIA 1
gene_symbol: VAC14
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: MGP
disease_id: OMIM:245150
disease_name: KEUTEL SYNDROME
gene_symbol: CHSY1
disease_id: ORPHA:363417
disease_name: Temtamy preaxial brachydactyly syndrome
gene_symbol: ROBO1
disease_id: OMIM:620305
disease_name: NEUROOCULORENAL SYNDROME
gene_symbol: HOXA13
disease_id: OMIM:140000
disease_name: HAND-FOOT-GENITAL SYNDROME
gene_symbol: HOXA13
disease_id: ORPHA:2438
disease_name: Hand-foot-genital syndrome
HFGS
Hand-foot-uterus syndrome
gene_symbol: EIF4A3
disease_id: ORPHA:3102
disease_name: Richieri Costa-Pereira syndrome
Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome
Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome
gene_symbol: EIF4A3
disease_id: OMIM:268305
disease_name: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES
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: PIGG
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: NELFA
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: SALL4
disease_id: ORPHA:959
disease_name: Acro-renal-ocular 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: IHH
disease_id: ORPHA:93388
disease_name: Brachydactyly type A1
Brachydactyly, Farabee type
gene_symbol: TPR
disease_id: OMIM:620393
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79
gene_symbol: IFT122
disease_id: OMIM:218330
disease_name: CRANIOECTODERMAL DYSPLASIA 1