Phenotype: Brachydactyly (HP:0001156)
Associated genes and diseases:
gene_symbol: HRAS
disease_id: ORPHA:79414
disease_name: Woolly hair nevus
Wooly hair nevus
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: 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: STAMBP
disease_id: OMIM:614261
disease_name: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME
gene_symbol: IFT81
disease_id: OMIM:617895
disease_name: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY
gene_symbol: NEK1
disease_id: OMIM:263520
disease_name: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY
gene_symbol: NEK1
disease_id: OMIM:252100
disease_name: MOHR SYNDROME
gene_symbol: GDF6
disease_id: OMIM:617898
disease_name: MULTIPLE SYNOSTOSES SYNDROME 4
gene_symbol: GDF6
disease_id: ORPHA:3237
disease_name: Multiple synostoses syndrome
Deafness-Hermann type symphalangism syndrome
Facio-audio-symphalangism
Hearing loss-Hermann type symphalangism syndrome
Symphalangism-brachydactyly syndrome
WL syndrome
gene_symbol: EFNB1
disease_id: ORPHA:1520
disease_name: Craniofrontonasal dysplasia
CFND
CFNS
Craniofrontonasal syndrome
gene_symbol: EFNB1
disease_id: OMIM:304110
disease_name: CRANIOFRONTONASAL SYNDROME
gene_symbol: PGM3
disease_id: ORPHA:443811
disease_name: PGM3-CDG
CID due to PGM3 deficiency
Combined immunodeficiency due to PGM3 deficiency
PGM3-related congenital disorder of glycosylation
gene_symbol: HHAT
disease_id: OMIM:600092
disease_name: NIVELON-NIVELON-MABILLE SYNDROME
gene_symbol: LSS
disease_id: ORPHA:2850
disease_name: Alopecia-intellectual disability syndrome
Perniola-Krajewska-Carnevale syndrome
gene_symbol: AHSG
disease_id: ORPHA:2850
disease_name: Alopecia-intellectual disability syndrome
Perniola-Krajewska-Carnevale syndrome
gene_symbol: ITGB6
disease_id: ORPHA:2850
disease_name: Alopecia-intellectual disability syndrome
Perniola-Krajewska-Carnevale syndrome
gene_symbol: TMEM67
disease_id: OMIM:602152
disease_name: RHYNS SYNDROME
gene_symbol: SLC26A2
disease_id: ORPHA:56304
disease_name: Atelosteogenesis type II
AO2
AOII
Atelosteogenesis type 2
De la Chapelle dysplasia
Neonatal osseous dysplasia type 1
gene_symbol: SLC26A2
disease_id: ORPHA:628
disease_name: Diastrophic dysplasia
Diastrophic dwarfism
gene_symbol: SLC26A2
disease_id: OMIM:226900
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
gene_symbol: SLC26A2
disease_id: ORPHA:93307
disease_name: Multiple epiphyseal dysplasia type 4
Autosomal recessive multiple epiphyseal dysplasia
EDM4
MED4
Polyepiphyseal dysplasia type 4
rMED
gene_symbol: CSPP1
disease_id: ORPHA:397715
disease_name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
JBTS with JATD
Joubert syndrome with JATD
gene_symbol: KIAA0586
disease_id: ORPHA:397715
disease_name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
JBTS with JATD
Joubert syndrome with JATD
gene_symbol: MYSM1
disease_id: ORPHA:508542
disease_name: Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
MYSM1 deficiency
gene_symbol: GNAS-AS1
disease_id: OMIM:603233
disease_name: PSEUDOHYPOPARATHYROIDISM, TYPE IB
gene_symbol: GNAS
disease_id: OMIM:603233
disease_name: PSEUDOHYPOPARATHYROIDISM, TYPE IB
gene_symbol: GNAS
disease_id: ORPHA:79443
disease_name: Pseudohypoparathyroidism type 1A
AHO-PHP syndrome Ia
Albright hereditary osteodystrophy-PHP syndrome Ia
gene_symbol: GNAS
disease_id: ORPHA:79444
disease_name: Pseudohypoparathyroidism type 1C
gene_symbol: GNAS
disease_id: ORPHA:79445
disease_name: Pseudopseudohypoparathyroidism
AHO-PPHP syndrome
Albright hereditary osteodystrophy-PPHP syndrome
gene_symbol: GNAS
disease_id: OMIM:612463
disease_name: PSEUDOPSEUDOHYPOPARATHYROIDISM
gene_symbol: GNAS
disease_id: OMIM:612462
disease_name: PSEUDOHYPOPARATHYROIDISM, TYPE IC
gene_symbol: GNAS
disease_id: ORPHA:2762
disease_name: Progressive osseous heteroplasia
Familial ectopic ossification
POH
gene_symbol: GNAS
disease_id: OMIM:103580
disease_name: PSEUDOHYPOPARATHYROIDISM, TYPE IA
gene_symbol: STX16
disease_id: OMIM:603233
disease_name: PSEUDOHYPOPARATHYROIDISM, TYPE IB
gene_symbol: DVL1
disease_id: OMIM:616331
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
gene_symbol: DVL1
disease_id: OMIM:180700
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
gene_symbol: DVL1
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: CSGALNACT1
disease_id: OMIM:618870
disease_name: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE
gene_symbol: CSGALNACT1
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: PIGK
disease_id: OMIM:618879
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES
gene_symbol: DCPS
disease_id: OMIM:616459
disease_name: AL-RAQAD SYNDROME
gene_symbol: SPECC1L
disease_id: ORPHA:1519
disease_name: SPECC1L-related hypertelorism syndrome
Brachycephalofrontonasal dysplasia
Teebi hypertelorism syndrome
gene_symbol: WDR35
disease_id: ORPHA:1515
disease_name: Cranioectodermal dysplasia
CED
Sensenbrenner syndrome
gene_symbol: WDR35
disease_id: OMIM:614091
disease_name: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY
gene_symbol: WDR35
disease_id: OMIM:613610
disease_name: CRANIOECTODERMAL DYSPLASIA 2
gene_symbol: IFT43
disease_id: ORPHA:1515
disease_name: Cranioectodermal dysplasia
CED
Sensenbrenner syndrome
gene_symbol: IFT43
disease_id: OMIM:614099
disease_name: CRANIOECTODERMAL DYSPLASIA 3
gene_symbol: IFT43
disease_id: OMIM:617866
disease_name: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY
gene_symbol: IFT52
disease_id: ORPHA:1515
disease_name: Cranioectodermal dysplasia
CED
Sensenbrenner syndrome
gene_symbol: IFT52
disease_id: OMIM:617102
disease_name: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY
gene_symbol: IFT122
disease_id: ORPHA:1515
disease_name: Cranioectodermal dysplasia
CED
Sensenbrenner syndrome
gene_symbol: IFT122
disease_id: OMIM:218330
disease_name: CRANIOECTODERMAL DYSPLASIA 1
gene_symbol: WDR19
disease_id: ORPHA:1515
disease_name: Cranioectodermal dysplasia
CED
Sensenbrenner syndrome
gene_symbol: WDR19
disease_id: ORPHA:474
disease_name: Jeune syndrome
Asphyxiating thoracic dystrophy of the newborn
JATD
Jeune asphyxiating thoracic dystrophy
gene_symbol: WDR19
disease_id: OMIM:614376
disease_name: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
gene_symbol: CHD7
disease_id: ORPHA:138
disease_name: CHARGE syndrome
CHARGE association
Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome
Hall-Hittner syndrome
gene_symbol: SEMA3E
disease_id: ORPHA:138
disease_name: CHARGE syndrome
CHARGE association
Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome
Hall-Hittner syndrome
gene_symbol: SNX14
disease_id: ORPHA:397709
disease_name: Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Autosomal recessive spinocerebellar ataxia type 20
Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome
SCAR20
gene_symbol: SNX14
disease_id: OMIM:616354
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20
gene_symbol: CTSK
disease_id: OMIM:265800
disease_name: PYCNODYSOSTOSIS
gene_symbol: CTSK
disease_id: ORPHA:763
disease_name: Pycnodysostosis
Pyknodysostosis
gene_symbol: CAMK2G
disease_id: OMIM:618522
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59
gene_symbol: RIN2
disease_id: OMIM:613075
disease_name: MACS SYNDROME
gene_symbol: RIN2
disease_id: ORPHA:217335
disease_name: RIN2 syndrome
MACS syndrome
Macrocephaly-alopecia-cutis laxa-scoliosis syndrome
RIN2 deficiency
Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome
gene_symbol: ADAMTS17
disease_id: OMIM:613195
disease_name: WEILL-MARCHESANI SYNDROME 4
gene_symbol: ADAMTS17
disease_id: ORPHA:3449
disease_name: Weill-Marchesani syndrome
Spherophakia-brachymorphia syndrome
gene_symbol: P4HA1
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: XYLT1
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: XYLT2
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: PLOD3
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: FLNB
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: FLNB
disease_id: OMIM:272460
disease_name: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
gene_symbol: FLNB
disease_id: ORPHA:503
disease_name: Larsen syndrome
gene_symbol: FLNB
disease_id: ORPHA:1190
disease_name: Atelosteogenesis type I
AO1
AOI
Atelosteogenesis type 1
Giant cell chondrodysplasia
Spondylo-humero-femoral dysplasia
gene_symbol: FLNB
disease_id: OMIM:108720
disease_name: ATELOSTEOGENESIS, TYPE I
gene_symbol: GZF1
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: B3GAT3
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: PIEZO2
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: B4GALT7
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: SKI
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
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: CANT1
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: CANT1
disease_id: OMIM:251450
disease_name: DESBUQUOIS DYSPLASIA 1
gene_symbol: KIF22
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: B3GALT6
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: GORAB
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: CHST3
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: CHST3
disease_id: ORPHA:263463
disease_name: CHST3-related skeletal dysplasia
Chondrodysplasia with congenital joint dislocations, CHST3 type
SDCD, CHST3 type
Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type
gene_symbol: FGFR3
disease_id: OMIM:146000
disease_name: HYPOCHONDROPLASIA
gene_symbol: FGFR3
disease_id: ORPHA:1860
disease_name: Thanatophoric dysplasia type 1
TD1
Thanatophoric dwarfism type 1
gene_symbol: FGFR3
disease_id: ORPHA:794
disease_name: Saethre-Chotzen syndrome
ACS3
Acrocephalosyndactyly type 3
SCS
gene_symbol: FGFR3
disease_id: ORPHA:429
disease_name: Hypochondroplasia
gene_symbol: FGFR3
disease_id: ORPHA:15
disease_name: Achondroplasia
gene_symbol: FGFR3
disease_id: OMIM:602849
disease_name: MUENKE SYNDROME
gene_symbol: FGFR3
disease_id: ORPHA:93274
disease_name: Thanatophoric dysplasia type 2
Cloverleaf skull-micromelic bone dysplasia syndrome
TD2
Thanatophoric dwarfism type 2
Thanatophoric dwarfism-cloverleaf skull syndrome
gene_symbol: FGFR3
disease_id: ORPHA:93262
disease_name: Crouzon syndrome-acanthosis nigricans syndrome
Crouzon-dermoskeletal syndrome
gene_symbol: FGFR3
disease_id: OMIM:100800
disease_name: ACHONDROPLASIA
gene_symbol: FGFR3
disease_id: ORPHA:35099
disease_name: Non-syndromic bicoronal craniosynostosis
Isolated bicoronal craniosynostosis
Isolated brachycephaly
Non-syndromic bilateral coronal suture synostosis
gene_symbol: FGFR3
disease_id: OMIM:187601
disease_name: THANATOPHORIC DYSPLASIA, TYPE II
gene_symbol: DLL4
disease_id: OMIM:616589
disease_name: ADAMS-OLIVER SYNDROME 6
gene_symbol: DLL4
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: NXN
disease_id: OMIM:618529
disease_name: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2
gene_symbol: NXN
disease_id: ORPHA:1507
disease_name: Autosomal recessive Robinow syndrome
COVESDEM syndrome
Costovertebral segmentation defect-mesomelia syndrome
RRS
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: ARL6
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: ARL6
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: ARL6
disease_id: OMIM:600151
disease_name: BARDET-BIEDL SYNDROME 3
gene_symbol: CCDC28B
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: BBS1
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: BBS1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: ROR2
disease_id: ORPHA:1507
disease_name: Autosomal recessive Robinow syndrome
COVESDEM syndrome
Costovertebral segmentation defect-mesomelia syndrome
RRS
gene_symbol: ROR2
disease_id: OMIM:268310
disease_name: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1
gene_symbol: 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: GJA1
disease_id: ORPHA:317
disease_name: Erythrokeratodermia variabilis
EKV
Erythrokeratodermia variabilis, Mendes da Costa type
gene_symbol: BMP4
disease_id: OMIM:607932
disease_name: MICROPHTHALMIA, SYNDROMIC 6
gene_symbol: ZMIZ1
disease_id: OMIM:618659
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
gene_symbol: SHOC2
disease_id: ORPHA:2701
disease_name: Noonan syndrome-like disorder with loose anagen hair
Mazzanti syndrome
NS/LAH
gene_symbol: PPP1CB
disease_id: ORPHA:2701
disease_name: Noonan syndrome-like disorder with loose anagen hair
Mazzanti syndrome
NS/LAH
gene_symbol: FGFR2
disease_id: OMIM:101400
disease_name: SAETHRE-CHOTZEN SYNDROME
gene_symbol: FGFR2
disease_id: ORPHA:794
disease_name: Saethre-Chotzen syndrome
ACS3
Acrocephalosyndactyly type 3
SCS
gene_symbol: FGFR2
disease_id: ORPHA:313855
disease_name: FGFR2-related bent bone dysplasia
Perinatal lethal bent bone dysplasia
gene_symbol: FGFR2
disease_id: OMIM:614592
disease_name: BENT BONE DYSPLASIA SYNDROME
gene_symbol: TWIST1
disease_id: OMIM:101400
disease_name: SAETHRE-CHOTZEN SYNDROME
gene_symbol: TWIST1
disease_id: ORPHA:794
disease_name: Saethre-Chotzen syndrome
ACS3
Acrocephalosyndactyly type 3
SCS
gene_symbol: TWIST1
disease_id: ORPHA:35099
disease_name: Non-syndromic bicoronal craniosynostosis
Isolated bicoronal craniosynostosis
Isolated brachycephaly
Non-syndromic bilateral coronal suture synostosis
gene_symbol: FAM111A
disease_id: OMIM:602361
disease_name: GRACILE BONE DYSPLASIA
gene_symbol: ADAMTS10
disease_id: OMIM:277600
disease_name: WEILL-MARCHESANI SYNDROME 1
gene_symbol: ADAMTS10
disease_id: ORPHA:3449
disease_name: Weill-Marchesani syndrome
Spherophakia-brachymorphia syndrome
gene_symbol: SALL4
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: MAFB
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: CHN1
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: KIAA0753
disease_id: ORPHA:474
disease_name: Jeune syndrome
Asphyxiating thoracic dystrophy of the newborn
JATD
Jeune asphyxiating thoracic dystrophy
gene_symbol: KIAA0753
disease_id: OMIM:619479
disease_name: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY
gene_symbol: KIAA0753
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: DYNC2I1
disease_id: ORPHA:474
disease_name: Jeune syndrome
Asphyxiating thoracic dystrophy of the newborn
JATD
Jeune asphyxiating thoracic dystrophy
gene_symbol: DYNC2I1
disease_id: OMIM:615503
disease_name: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
gene_symbol: IFT172
disease_id: ORPHA:474
disease_name: Jeune syndrome
Asphyxiating thoracic dystrophy of the newborn
JATD
Jeune asphyxiating thoracic dystrophy
gene_symbol: IFT172
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT172
disease_id: OMIM:615630
disease_name: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
gene_symbol: CEP120
disease_id: ORPHA:474
disease_name: Jeune syndrome
Asphyxiating thoracic dystrophy of the newborn
JATD
Jeune asphyxiating thoracic dystrophy
gene_symbol: IFT80
disease_id: ORPHA:474
disease_name: Jeune syndrome
Asphyxiating thoracic dystrophy of the newborn
JATD
Jeune asphyxiating thoracic dystrophy
gene_symbol: IFT80
disease_id: OMIM:611263
disease_name: SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY
gene_symbol: DYNC2LI1
disease_id: ORPHA:474
disease_name: Jeune syndrome
Asphyxiating thoracic dystrophy of the newborn
JATD
Jeune asphyxiating thoracic dystrophy
gene_symbol: DYNC2LI1
disease_id: OMIM:617088
disease_name: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
gene_symbol: DYNC2H1
disease_id: ORPHA:474
disease_name: Jeune syndrome
Asphyxiating thoracic dystrophy of the newborn
JATD
Jeune asphyxiating thoracic dystrophy
gene_symbol: DYNC2H1
disease_id: OMIM:613091
disease_name: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY
gene_symbol: IFT140
disease_id: ORPHA:474
disease_name: Jeune syndrome
Asphyxiating thoracic dystrophy of the newborn
JATD
Jeune asphyxiating thoracic dystrophy
gene_symbol: DYNC2I2
disease_id: ORPHA:474
disease_name: Jeune syndrome
Asphyxiating thoracic dystrophy of the newborn
JATD
Jeune asphyxiating thoracic dystrophy
gene_symbol: DYNC2I2
disease_id: OMIM:615633
disease_name: SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY
gene_symbol: TTC21B
disease_id: ORPHA:474
disease_name: Jeune syndrome
Asphyxiating thoracic dystrophy of the newborn
JATD
Jeune asphyxiating thoracic dystrophy
gene_symbol: TTC21B
disease_id: OMIM:613819
disease_name: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY
gene_symbol: LIG4
disease_id: ORPHA:235
disease_name: Dubowitz syndrome
gene_symbol: NSUN2
disease_id: ORPHA:235
disease_name: Dubowitz syndrome
gene_symbol: BBIP1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBIP1
disease_id: OMIM:615995
disease_name: BARDET-BIEDL SYNDROME 18
gene_symbol: CEP290
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT27
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SCAPER
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: NPHP1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: WDPCP
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SCLT1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS9
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS9
disease_id: OMIM:615986
disease_name: BARDET-BIEDL SYNDROME 9
gene_symbol: CEP19
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: TRIM32
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: MKS1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS10
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: TTC8
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS2
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS4
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS4
disease_id: OMIM:615982
disease_name: BARDET-BIEDL SYNDROME 4
gene_symbol: MKKS
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: MKKS
disease_id: ORPHA:2473
disease_name: McKusick-Kaufman syndrome
Hydrometrocolpos-postaxial polydactyly syndrome
Kaufman-Mckusick syndrome
gene_symbol: LZTFL1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: LZTFL1
disease_id: OMIM:615994
disease_name: BARDET-BIEDL SYNDROME 17
gene_symbol: BBS7
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS12
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SDCCAG8
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CFAP418
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS5
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS5
disease_id: OMIM:615983
disease_name: BARDET-BIEDL SYNDROME 5
gene_symbol: IFT74
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: PPM1D
disease_id: OMIM:617450
disease_name: JANSEN-DE VRIES SYNDROME
gene_symbol: SMG9
disease_id: OMIM:619995
disease_name: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES
gene_symbol: POGZ
disease_id: OMIM:616364
disease_name: WHITE-SUTTON SYNDROME
gene_symbol: IARS2
disease_id: OMIM:616007
disease_name: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
gene_symbol: AFF4
disease_id: OMIM:616368
disease_name: CHOPS SYNDROME
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: EVC2
disease_id: OMIM:193530
disease_name: WEYERS ACROFACIAL DYSOSTOSIS
gene_symbol: EVC
disease_id: OMIM:193530
disease_name: WEYERS ACROFACIAL DYSOSTOSIS
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: SPEN
disease_id: OMIM:619312
disease_name: RADIO-TARTAGLIA SYNDROME
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: 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: COMP
disease_id: OMIM:177170
disease_name: PSEUDOACHONDROPLASIA
gene_symbol: COMP
disease_id: ORPHA:750
disease_name: Pseudoachondroplasia
Pseudoachondroplastic dysplasia
Pseudoachondroplastic spondyloepiphyseal dysplasia
gene_symbol: COMP
disease_id: ORPHA:93308
disease_name: Multiple epiphyseal dysplasia type 1
EDM1
MED1
Polyepiphyseal dysplasia type 1
gene_symbol: MGAT2
disease_id: ORPHA:79329
disease_name: MGAT2-CDG
CDG syndrome type IIa
CDG-IIa
CDG2A
Carbohydrate deficient glycoprotein syndrome type IIa
Congenital disorder of glycosylation type 2a
Congenital disorder of glycosylation type IIa
N-acetylglucosaminyltransferase 2 deficiency
gene_symbol: BAP1
disease_id: OMIM:619762
disease_name: KURY-ISIDOR SYNDROME
gene_symbol: BPNT2
disease_id: OMIM:614078
disease_name: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE
gene_symbol: TNNT3
disease_id: OMIM:618435
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 2B2
gene_symbol: HOXD13
disease_id: OMIM:610713
disease_name: BRACHYDACTYLY-SYNDACTYLY SYNDROME
gene_symbol: HOXD13
disease_id: OMIM:113300
disease_name: BRACHYDACTYLY, TYPE E1
gene_symbol: HOXD13
disease_id: OMIM:186300
disease_name: SYNDACTYLY, TYPE V
gene_symbol: COL11A1
disease_id: ORPHA:440354
disease_name: Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome
gene_symbol: COL11A1
disease_id: ORPHA:2021
disease_name: Fibrochondrogenesis
gene_symbol: LBR
disease_id: OMIM:215140
disease_name: GREENBERG DYSPLASIA
gene_symbol: LBR
disease_id: OMIM:618019
disease_name: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
gene_symbol: LBR
disease_id: ORPHA:1426
disease_name: Greenberg dysplasia
HEM dysplasia
Hydrops-ectopic calcification-motheaten syndrome
Skeletal dysplasia, Greenberg type
gene_symbol: MSX2
disease_id: OMIM:604757
disease_name: CRANIOSYNOSTOSIS 2
gene_symbol: PTCH1
disease_id: ORPHA:377
disease_name: Gorlin syndrome
Basal cell nevus syndrome
Gorlin-Goltz syndrome
NBCCS
Nevoid basal cell carcinoma syndrome
gene_symbol: PTCH1
disease_id: OMIM:109400
disease_name: BASAL CELL NEVUS SYNDROME
gene_symbol: PTCH2
disease_id: ORPHA:377
disease_name: Gorlin syndrome
Basal cell nevus syndrome
Gorlin-Goltz syndrome
NBCCS
Nevoid basal cell carcinoma syndrome
gene_symbol: SUFU
disease_id: ORPHA:377
disease_name: Gorlin syndrome
Basal cell nevus syndrome
Gorlin-Goltz syndrome
NBCCS
Nevoid basal cell carcinoma syndrome
gene_symbol: SMARCD2
disease_id: OMIM:617475
disease_name: SPECIFIC GRANULE DEFICIENCY 2
gene_symbol: NOTCH1
disease_id: OMIM:616028
disease_name: ADAMS-OLIVER SYNDROME 5
gene_symbol: NOTCH1
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: FGFR1
disease_id: OMIM:166250
disease_name: OSTEOGLOPHONIC DYSPLASIA
gene_symbol: FGFR1
disease_id: ORPHA:2645
disease_name: Osteoglosphonic dysplasia
Osteoglophonic dwarfism
gene_symbol: NIPBL
disease_id: OMIM:122470
disease_name: CORNELIA DE LANGE SYNDROME 1
gene_symbol: FBXO28
disease_id: OMIM:619777
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100
gene_symbol: WAC
disease_id: ORPHA:466950
disease_name: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
Desanto-Shinawi syndrome due to WAC point mutation
gene_symbol: ALG6
disease_id: ORPHA:79320
disease_name: ALG6-CDG
CDG syndrome type Ic
CDG-Ic
CDG1C
Carbohydrate deficient glycoprotein syndrome type Ic
Congenital disorder of glycosylation type 1c
Congenital disorder of glycosylation type Ic
Glucosyltransferase 1 deficiency
gene_symbol: RNU4ATAC
disease_id: ORPHA:1824
disease_name: Lowry-Wood syndrome
Epiphyseal dysplasia-microcephaly-nystagmus syndrome
gene_symbol: RNU4ATAC
disease_id: ORPHA:353298
disease_name: Roifman syndrome
Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome
gene_symbol: RNU4ATAC
disease_id: OMIM:226960
disease_name: LOWRY-WOOD SYNDROME
gene_symbol: RNU4ATAC
disease_id: OMIM:210710
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
gene_symbol: RNU4ATAC
disease_id: OMIM:616651
disease_name: ROIFMAN SYNDROME
gene_symbol: RNU4ATAC
disease_id: ORPHA:2636
disease_name: Microcephalic osteodysplastic primordial dwarfism types I and III
MOPD types I and III
Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type
Primordial microcephalic dwarfism, Crachami type
Taybi-Linder syndrome
gene_symbol: ALG8
disease_id: ORPHA:79325
disease_name: ALG8-CDG
CDG syndrome type Ih
CDG-Ih
CDG1H
Carbohydrate deficient glycoprotein syndrome type Ih
Congenital disorder of glycosylation type 1h
Congenital disorder of glycosylation type Ih
Glucosyltransferase 2 deficiency
gene_symbol: ALX3
disease_id: OMIM:136760
disease_name: FRONTONASAL DYSPLASIA 1
gene_symbol: ALX3
disease_id: ORPHA:391474
disease_name: Frontorhiny
ALX3-related frontonasal dysplasia
Frontonasal dysplasia type 1
Isolated median cleft face syndrome
gene_symbol: SHOX
disease_id: ORPHA:240
disease_name: Léri-Weill dyschondrosteosis
Léri-Weill syndrome
gene_symbol: SMARCA2
disease_id: OMIM:601358
disease_name: NICOLAIDES-BARAITSER SYNDROME
gene_symbol: SMARCA2
disease_id: ORPHA:3051
disease_name: Nicolaides-Baraitser syndrome
Intellectual disability-sparse hair-brachydactyly syndrome
gene_symbol: TRPS1
disease_id: OMIM:190350
disease_name: TRICHORHINOPHALANGEAL SYNDROME, TYPE I
gene_symbol: TRPS1
disease_id: OMIM:190351
disease_name: TRICHORHINOPHALANGEAL SYNDROME, TYPE III
gene_symbol: TRPS1
disease_id: ORPHA:502
disease_name: Trichorhinophalangeal syndrome type 2
Langer-Giedion syndrome
gene_symbol: RAP1B
disease_id: OMIM:620654
disease_name: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES
gene_symbol: GPX4
disease_id: OMIM:250220
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE
gene_symbol: GLI3
disease_id: ORPHA:672
disease_name: Pallister-Hall syndrome
Hypothalamic hamartoblastoma syndrome
gene_symbol: GLI3
disease_id: OMIM:175700
disease_name: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
gene_symbol: COL2A1
disease_id: OMIM:132450
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS
gene_symbol: COL2A1
disease_id: OMIM:619248
disease_name: VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA
gene_symbol: COL2A1
disease_id: OMIM:271700
disease_name: SPONDYLOPERIPHERAL DYSPLASIA
gene_symbol: COL2A1
disease_id: OMIM:151210
disease_name: PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE
gene_symbol: COL2A1
disease_id: OMIM:184250
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE
gene_symbol: SPART
disease_id: OMIM:275900
disease_name: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE
gene_symbol: GDF5
disease_id: OMIM:615072
disease_name: BRACHYDACTYLY, TYPE A1, C
gene_symbol: GDF5
disease_id: OMIM:228900
disease_name: DU PAN SYNDROME
gene_symbol: GDF5
disease_id: ORPHA:2098
disease_name: Acromesomelic dysplasia, Grebe type
Chondrodysplasia, Grebe type
gene_symbol: GDF5
disease_id: ORPHA:3250
disease_name: Proximal symphalangism
Symphalangism, Cushing type
gene_symbol: GDF5
disease_id: ORPHA:968
disease_name: Acromesomelic dysplasia, Hunter-Thompson type
Acromesomelic dwarfism
gene_symbol: GDF5
disease_id: OMIM:610017
disease_name: MULTIPLE SYNOSTOSES SYNDROME 2
gene_symbol: GDF5
disease_id: ORPHA:3237
disease_name: Multiple synostoses syndrome
Deafness-Hermann type symphalangism syndrome
Facio-audio-symphalangism
Hearing loss-Hermann type symphalangism syndrome
Symphalangism-brachydactyly syndrome
WL syndrome
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C
gene_symbol: GDF5
disease_id: ORPHA:2639
disease_name: Fibular aplasia-complex brachydactyly syndrome
Du Pan 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: 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: PRKAR1B
disease_id: OMIM:619680
disease_name: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME
gene_symbol: TRPV4
disease_id: OMIM:156530
disease_name: METATROPIC DYSPLASIA
gene_symbol: TRPV4
disease_id: ORPHA:85169
disease_name: Familial digital arthropathy-brachydactyly
gene_symbol: TRPV4
disease_id: ORPHA:93314
disease_name: Spondylometaphyseal dysplasia, Kozlowski type
gene_symbol: ACAN
disease_id: OMIM:612813
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE
gene_symbol: ACAN
disease_id: ORPHA:171866
disease_name: Spondyloepimetaphyseal dysplasia, aggrecan type
SEMD, aggrecan type
gene_symbol: ACAN
disease_id: ORPHA:435804
disease_name: Short stature-advanced bone age-early-onset osteoarthritis syndrome
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: ZDHHC9
disease_id: ORPHA:776
disease_name: Lujan-Fryns syndrome
X-linked intellectual disability with marfanoid habitus
gene_symbol: UPF3B
disease_id: ORPHA:776
disease_name: Lujan-Fryns syndrome
X-linked intellectual disability with marfanoid habitus
gene_symbol: MED12
disease_id: ORPHA:776
disease_name: Lujan-Fryns syndrome
X-linked intellectual disability with marfanoid habitus
gene_symbol: SMC3
disease_id: OMIM:610759
disease_name: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
gene_symbol: FTO
disease_id: OMIM:612938
disease_name: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM
gene_symbol: FAM20C
disease_id: OMIM:259775
disease_name: RAINE SYNDROME
gene_symbol: YY1AP1
disease_id: OMIM:602531
disease_name: GRANGE SYNDROME
gene_symbol: REV3L
disease_id: ORPHA:570
disease_name: Moebius syndrome
Möbius syndrome
gene_symbol: PLXND1
disease_id: ORPHA:570
disease_name: Moebius syndrome
Möbius syndrome
gene_symbol: POP1
disease_id: OMIM:617396
disease_name: ANAUXETIC DYSPLASIA 2
gene_symbol: RLIM
disease_id: OMIM:300978
disease_name: TONNE-KALSCHEUER SYNDROME
gene_symbol: MARS1
disease_id: OMIM:619692
disease_name: TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE
gene_symbol: DBH
disease_id: OMIM:223360
disease_name: ORTHOSTATIC HYPOTENSION 1
gene_symbol: LTBP1
disease_id: OMIM:619451
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE
gene_symbol: PRMT7
disease_id: OMIM:617157
disease_name: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES
gene_symbol: PRMT7
disease_id: ORPHA:464288
disease_name: Short stature-brachydactyly-obesity-global developmental delay syndrome
SBIDDS
gene_symbol: FLNA
disease_id: ORPHA:88630
disease_name: Terminal osseous dysplasia-pigmentary defects syndrome
gene_symbol: FLNA
disease_id: OMIM:300244
disease_name: TERMINAL OSSEOUS DYSPLASIA
gene_symbol: CDH11
disease_id: OMIM:211380
disease_name: ELSAHY-WATERS SYNDROME
gene_symbol: PAX3
disease_id: OMIM:148820
disease_name: WAARDENBURG SYNDROME, TYPE 3
gene_symbol: SEC23B
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: PTEN
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SDHB
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SDHD
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SDHC
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: AKT1
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: USF3
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: PIK3CA
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: KLLN
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SIN3A
disease_id: ORPHA:94065
disease_name: 15q24 microdeletion syndrome
Del(15)(q24)
Monosomy 15q24
gene_symbol: SIN3A
disease_id: OMIM:613406
disease_name: WITTEVEEN-KOLK SYNDROME
gene_symbol: BGN
disease_id: OMIM:300989
disease_name: MEESTER-LOEYS SYNDROME
gene_symbol: BGN
disease_id: OMIM:300106
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED
gene_symbol: LIFR
disease_id: OMIM:601559
disease_name: STUVE-WIEDEMANN SYNDROME
gene_symbol: APC2
disease_id: OMIM:617169
disease_name: SOTOS SYNDROME 3
gene_symbol: KDM6A
disease_id: OMIM:300867
disease_name: KABUKI SYNDROME 2
gene_symbol: KDM6A
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: KDM6A
disease_id: ORPHA:2322
disease_name: Kabuki syndrome
Kabuki make-up syndrome
Niikawa-Kuroki syndrome
gene_symbol: PDE4D
disease_id: ORPHA:439822
disease_name: PDE4D haploinsufficiency syndrome
gene_symbol: PDE4D
disease_id: ORPHA:950
disease_name: Acrodysostosis
Acrodysostosis with or without multiple hormonal resistance
Acrodysplasia
Arkless-Graham syndrome
Maroteaux-Malamut syndrome
gene_symbol: PDE4D
disease_id: OMIM:614613
disease_name: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
gene_symbol: RMRP
disease_id: OMIM:607095
disease_name: ANAUXETIC DYSPLASIA 1
gene_symbol: PRKAR1A
disease_id: OMIM:101800
disease_name: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE
gene_symbol: PRKAR1A
disease_id: ORPHA:950
disease_name: Acrodysostosis
Acrodysostosis with or without multiple hormonal resistance
Acrodysplasia
Arkless-Graham syndrome
Maroteaux-Malamut syndrome
gene_symbol: RAB23
disease_id: ORPHA:65759
disease_name: Carpenter syndrome
ACPS2
Acrocephalopolysyndactyly type 2
gene_symbol: RAB23
disease_id: OMIM:201000
disease_name: CARPENTER SYNDROME 1
gene_symbol: MEGF8
disease_id: ORPHA:65759
disease_name: Carpenter syndrome
ACPS2
Acrocephalopolysyndactyly type 2
gene_symbol: MEGF8
disease_id: OMIM:614976
disease_name: CARPENTER SYNDROME 2
gene_symbol: GJB3
disease_id: ORPHA:317
disease_name: Erythrokeratodermia variabilis
EKV
Erythrokeratodermia variabilis, Mendes da Costa type
gene_symbol: KDSR
disease_id: ORPHA:317
disease_name: Erythrokeratodermia variabilis
EKV
Erythrokeratodermia variabilis, Mendes da Costa type
gene_symbol: GJB4
disease_id: ORPHA:317
disease_name: Erythrokeratodermia variabilis
EKV
Erythrokeratodermia variabilis, Mendes da Costa type
gene_symbol: SIL1
disease_id: ORPHA:559
disease_name: Marinesco-Sjögren syndrome
gene_symbol: KCNK4
disease_id: OMIM:618381
disease_name: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME
gene_symbol: CPLANE1
disease_id: OMIM:277170
disease_name: OROFACIODIGITAL SYNDROME VI
gene_symbol: CPLANE1
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: DPF2
disease_id: OMIM:618027
disease_name: COFFIN-SIRIS SYNDROME 7
gene_symbol: PIGS
disease_id: OMIM:618143
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18
gene_symbol: B3GLCT
disease_id: OMIM:261540
disease_name: PETERS-PLUS SYNDROME
gene_symbol: B3GLCT
disease_id: ORPHA:709
disease_name: Peters plus syndrome
Krause-Kivlin syndrome
Krause-van Schooneveld-Kivlin syndrome
Peters anomaly with short limb dwarfism
gene_symbol: PPP3CA
disease_id: OMIM:618265
disease_name: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT
gene_symbol: ARHGAP31
disease_id: OMIM:100300
disease_name: ADAMS-OLIVER SYNDROME 1
gene_symbol: ARHGAP31
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: SH3PXD2B
disease_id: ORPHA:137834
disease_name: Frank-Ter Haar syndrome
Ter Haar syndrome
gene_symbol: BMPR1B
disease_id: ORPHA:2098
disease_name: Acromesomelic dysplasia, Grebe type
Chondrodysplasia, Grebe type
gene_symbol: BMPR1B
disease_id: OMIM:609441
disease_name: ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
gene_symbol: BMPR1B
disease_id: ORPHA:2639
disease_name: Fibular aplasia-complex brachydactyly syndrome
Du Pan 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: SLC2A1
disease_id: ORPHA:168577
disease_name: Hereditary cryohydrocytosis with reduced stomatin
CHC type 2
Hereditary cryohydrocytosis type 2
Stomatin-deficient cryohydrocytosis
sdCHC
gene_symbol: PAPSS2
disease_id: OMIM:612847
disease_name: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES
gene_symbol: TONSL
disease_id: OMIM:271510
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE
gene_symbol: TONSL
disease_id: ORPHA:93357
disease_name: SPONASTRIME dysplasia
Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia
Spondyloepimetaphyseal dysplasia, Sponastrime type
gene_symbol: EXT1
disease_id: ORPHA:502
disease_name: Trichorhinophalangeal syndrome type 2
Langer-Giedion syndrome
gene_symbol: RAD21
disease_id: ORPHA:502
disease_name: Trichorhinophalangeal syndrome type 2
Langer-Giedion syndrome
gene_symbol: RAD21
disease_id: OMIM:614701
disease_name: CORNELIA DE LANGE SYNDROME 4 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
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: MBTPS1
disease_id: OMIM:618392
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE
gene_symbol: CSNK2A1
disease_id: OMIM:617062
disease_name: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
gene_symbol: TRIO
disease_id: OMIM:617061
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY
gene_symbol: ERF
disease_id: OMIM:617180
disease_name: CHITAYAT SYNDROME
gene_symbol: PCYT1A
disease_id: ORPHA:85167
disease_name: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
SMD-CRD
gene_symbol: PCYT1A
disease_id: OMIM:608940
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY
gene_symbol: CCDC32
disease_id: OMIM:619123
disease_name: CARDIOFACIONEURODEVELOPMENTAL SYNDROME
gene_symbol: WDR11
disease_id: OMIM:620237
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78
gene_symbol: SLC35D1
disease_id: OMIM:269250
disease_name: SCHNECKENBECKEN DYSPLASIA
gene_symbol: RBPJ
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: DOCK6
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: EOGT
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: MIR17HG
disease_id: ORPHA:391646
disease_name: Feingold syndrome type 2
Brachydactyly-short stature-microcephaly syndrome
Brunner-Winter syndrome type 2
FGLDS2
FS2
MMT type 2
Microcephaly-digital anomalies-normal intelligence syndrome type 2
Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2
gene_symbol: IHH
disease_id: OMIM:112500
disease_name: BRACHYDACTYLY, TYPE A1
gene_symbol: IHH
disease_id: OMIM:607778
disease_name: ACROCAPITOFEMORAL DYSPLASIA
gene_symbol: SIK3
disease_id: OMIM:618162
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE
gene_symbol: PIK3R1
disease_id: ORPHA:3163
disease_name: SHORT syndrome
Lipodystrophy-Rieger anomaly-diabetes syndrome
Rieger anomaly-partial lipodystrophy syndrome
gene_symbol: CHST11
disease_id: OMIM:618167
disease_name: OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS
gene_symbol: POMP
disease_id: OMIM:618048
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2
gene_symbol: SLURP1
disease_id: OMIM:248300
disease_name: MAL DE MELEDA
gene_symbol: RSPRY1
disease_id: ORPHA:457395
disease_name: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
gene_symbol: PIGL
disease_id: OMIM:280000
disease_name: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME
gene_symbol: OFD1
disease_id: OMIM:300804
disease_name: JOUBERT SYNDROME 10
gene_symbol: OFD1
disease_id: OMIM:311200
disease_name: OROFACIODIGITAL SYNDROME I
gene_symbol: OFD1
disease_id: ORPHA:2750
disease_name: Orofaciodigital syndrome type 1
OFD1
OFDI
OFDSI
Oral-facial-digital syndrome type 1
Papillon-Léage-Psaume syndrome
gene_symbol: OFD1
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: NBAS
disease_id: OMIM:614800
disease_name: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
gene_symbol: LMNA
disease_id: ORPHA:168796
disease_name: Heart-hand syndrome, Slovenian type
Atriodigital dysplasia, Slovenian type
Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome
gene_symbol: LMNA
disease_id: OMIM:610140
disease_name: HEART-HAND SYNDROME, SLOVENIAN TYPE
gene_symbol: RRAS2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: CBL
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: LZTR1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RIT1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: RAF1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: MRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: KRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: KRAS
disease_id: ORPHA:3339
disease_name: Oculoectodermal syndrome
Aplasia cutis congenita-epibulbar dermoids syndrome
gene_symbol: KRAS
disease_id: OMIM:609942
disease_name: NOONAN SYNDROME 3
gene_symbol: SPRED2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: NRAS
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: SOS1
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: SOS2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: PTPN11
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: PTPN11
disease_id: OMIM:163950
disease_name: NOONAN SYNDROME 1
gene_symbol: RASA2
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: BRAF
disease_id: ORPHA:648
disease_name: Noonan syndrome
gene_symbol: BRAF
disease_id: OMIM:163950
disease_name: NOONAN SYNDROME 1
gene_symbol: WNT5A
disease_id: OMIM:180700
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
gene_symbol: WNT5A
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: WASHC5
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: CCDC22
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: VPS35L
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: DPYSL5
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: TLK2
disease_id: OMIM:618050
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 57
gene_symbol: PRKACB
disease_id: OMIM:619143
disease_name: CARDIOACROFACIAL DYSPLASIA 2
gene_symbol: RDH11
disease_id: ORPHA:436245
disease_name: Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
Retinal dystrophy-juvenile cataract-short stature syndrome
gene_symbol: POC1A
disease_id: OMIM:614813
disease_name: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS
gene_symbol: LTBP2
disease_id: OMIM:614819
disease_name: WEILL-MARCHESANI SYNDROME 3
gene_symbol: LTBP2
disease_id: ORPHA:3449
disease_name: Weill-Marchesani syndrome
Spherophakia-brachymorphia syndrome
gene_symbol: GHR
disease_id: ORPHA:633
disease_name: Laron syndrome
Complete growth hormone insensitivity
GH receptor deficiency
Growth hormone receptor deficiency
Laron-type dwarfism
Primary GH insensitivity
Primary GH resistance
Primary growth hormone insensitivity
Primary growth hormone resistance
Short stature due to growth hormone resistance
gene_symbol: UBAP2L
disease_id: OMIM:620494
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES
gene_symbol: KMT2D
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: KMT2D
disease_id: ORPHA:2322
disease_name: Kabuki syndrome
Kabuki make-up syndrome
Niikawa-Kuroki syndrome
gene_symbol: SMC1A
disease_id: OMIM:300590
disease_name: CORNELIA DE LANGE SYNDROME 2
gene_symbol: CUL4B
disease_id: OMIM:300354
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE
gene_symbol: AIFM1
disease_id: OMIM:300232
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY
gene_symbol: ANTXR2
disease_id: ORPHA:2176
disease_name: Infantile systemic hyalinosis
gene_symbol: HOXA13
disease_id: OMIM:140000
disease_name: HAND-FOOT-GENITAL SYNDROME
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: NOG
disease_id: ORPHA:3250
disease_name: Proximal symphalangism
Symphalangism, Cushing type
gene_symbol: NOG
disease_id: OMIM:186570
disease_name: TARSAL-CARPAL COALITION SYNDROME
gene_symbol: NOG
disease_id: ORPHA:3237
disease_name: Multiple synostoses syndrome
Deafness-Hermann type symphalangism syndrome
Facio-audio-symphalangism
Hearing loss-Hermann type symphalangism syndrome
Symphalangism-brachydactyly syndrome
WL syndrome
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
gene_symbol: KIF7
disease_id: OMIM:200990
disease_name: ACROCALLOSAL SYNDROME
gene_symbol: KIF7
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: CILK1
disease_id: OMIM:612651
disease_name: ENDOCRINE-CEREBROOSTEODYSPLASIA
gene_symbol: FLII
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: IQSEC2
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: RAI1
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: RAI1
disease_id: OMIM:182290
disease_name: SMITH-MAGENIS SYNDROME
gene_symbol: DEAF1
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: SRCAP
disease_id: ORPHA:2044
disease_name: Floating-Harbor syndrome
gene_symbol: SRCAP
disease_id: OMIM:136140
disease_name: FLOATING-HARBOR SYNDROME
gene_symbol: DHCR7
disease_id: ORPHA:818
disease_name: Smith-Lemli-Opitz syndrome
7-dehydrocholesterol reductase deficiency
RSH syndrome
SLOS
gene_symbol: KIF26A
disease_id: OMIM:620156
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11
gene_symbol: KIF15
disease_id: ORPHA:261323
disease_name: 21q22.11q22.12 microdeletion syndrome
Del(21)(q22.11q22.12)
Monosomy 21q22.11q22.12
gene_symbol: KAT6B
disease_id: OMIM:606170
disease_name: GENITOPATELLAR SYNDROME
gene_symbol: ARID1A
disease_id: OMIM:614607
disease_name: COFFIN-SIRIS SYNDROME 2
gene_symbol: FBN1
disease_id: ORPHA:969
disease_name: Acromicric dysplasia
gene_symbol: FBN1
disease_id: OMIM:608328
disease_name: WEILL-MARCHESANI SYNDROME 2
gene_symbol: FBN1
disease_id: ORPHA:3449
disease_name: Weill-Marchesani syndrome
Spherophakia-brachymorphia syndrome
gene_symbol: FBN1
disease_id: ORPHA:2623
disease_name: Geleophysic dysplasia
Geleophysic dwarfism
gene_symbol: LTBP3
disease_id: ORPHA:969
disease_name: Acromicric dysplasia
gene_symbol: LTBP3
disease_id: OMIM:617809
disease_name: GELEOPHYSIC DYSPLASIA 3
gene_symbol: LTBP3
disease_id: ORPHA:2623
disease_name: Geleophysic dysplasia
Geleophysic dwarfism
gene_symbol: ATRX
disease_id: ORPHA:847
disease_name: X-linked alpha-thalassemia-intellectual disability syndrome
ATR-X syndrome
gene_symbol: ATRX
disease_id: OMIM:309580
disease_name: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1
gene_symbol: SCUBE3
disease_id: OMIM:619184
disease_name: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2
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: MAP3K7
disease_id: OMIM:157800
disease_name: CARDIOSPONDYLOCARPOFACIAL SYNDROME
gene_symbol: MAP3K7
disease_id: ORPHA:3238
disease_name: Cardiospondylocarpofacial syndrome
Forney syndrome
Forney-Robinson-Pascoe syndrome
Mitral regurgitation-deafness-skeletal anomalies syndrome
Mitral regurgitation-hearing loss-skeletal anomalies syndrome
gene_symbol: EHMT1
disease_id: OMIM:610253
disease_name: KLEEFSTRA SYNDROME 1
gene_symbol: MRPS16
disease_id: OMIM:610498
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2
gene_symbol: COL11A2
disease_id: ORPHA:2021
disease_name: Fibrochondrogenesis
gene_symbol: COL11A2
disease_id: ORPHA:1427
disease_name: Autosomal recessive otospondylomegaepiphyseal dysplasia
OSMED
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: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME
gene_symbol: FGF9
disease_id: ORPHA:3237
disease_name: Multiple synostoses syndrome
Deafness-Hermann type symphalangism syndrome
Facio-audio-symphalangism
Hearing loss-Hermann type symphalangism syndrome
Symphalangism-brachydactyly syndrome
WL syndrome
gene_symbol: DPH2
disease_id: OMIM:620062
disease_name: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 2
gene_symbol: DVL3
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: DVL3
disease_id: OMIM:616894
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
gene_symbol: FZD2
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: PNPLA6
disease_id: ORPHA:2377
disease_name: Laurence-Moon syndrome
LMS
gene_symbol: CEP55
disease_id: OMIM:236500
disease_name: MULTINUCLEATED NEURONS, ANHYDRAMNIOS, RENAL DYSPLASIA, CEREBELLAR HYPOPLASIA, AND HYDRANENCEPHALY
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: SLC35C1
disease_id: OMIM:266265
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc
gene_symbol: HEATR3
disease_id: OMIM:620072
disease_name: DIAMOND-BLACKFAN ANEMIA 21
gene_symbol: HNRNPR
disease_id: OMIM:620073
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES
gene_symbol: SMAD4
disease_id: OMIM:139210
disease_name: MYHRE SYNDROME
gene_symbol: SMAD4
disease_id: ORPHA:2588
disease_name: Myhre syndrome
Facial dysmorphism-intellectual disability-short stature-deafness syndrome
Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome
Myhre-LAPS syndrome
Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome
gene_symbol: TRIP11
disease_id: OMIM:184260
disease_name: ODONTOCHONDRODYSPLASIA 1
gene_symbol: PDGFRB
disease_id: OMIM:601812
disease_name: PREMATURE AGING SYNDROME, PENTTINEN TYPE
gene_symbol: DDX3X
disease_id: ORPHA:3338
disease_name: Toriello-Carey syndrome
Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome
gene_symbol: PDE3A
disease_id: ORPHA:1276
disease_name: Brachydactyly-arterial hypertension syndrome
Bilginturan brachydactyly
Bilginturan syndrome
Brachydactyly type E, with short stature and hypertension
gene_symbol: MACROH2A1
disease_id: ORPHA:1275
disease_name: Brachydactyly-elbow wrist dysplasia syndrome
Brachydactyly-joint dysplasia syndrome
Liebenberg syndrome
gene_symbol: PITX1
disease_id: ORPHA:1275
disease_name: Brachydactyly-elbow wrist dysplasia syndrome
Brachydactyly-joint dysplasia syndrome
Liebenberg syndrome
gene_symbol: KDM5C
disease_id: OMIM:300534
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
gene_symbol: BHLHA9
disease_id: ORPHA:3329
disease_name: Tibial aplasia-ectrodactyly syndrome
Aplasia of tibia with split-hand/split-foot deformity
SHFLD syndrome
SHFM associated with aplasia of long bones
Split hand/foot malformation with long bone deficiency
Split-hand/foot malformation associated with aplasia of long bones
TH-SHFM
Tibial hemimelia with split hand/foot malformation
Tibial hemimelia-ectrodactyly syndrome
gene_symbol: TGFBR2
disease_id: OMIM:610168
disease_name: LOEYS-DIETZ SYNDROME 2
gene_symbol: NPR2
disease_id: ORPHA:40
disease_name: Acromesomelic dysplasia, Maroteaux type
gene_symbol: CHSY1
disease_id: OMIM:605282
disease_name: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME
gene_symbol: CHSY1
disease_id: ORPHA:363417
disease_name: Temtamy preaxial brachydactyly syndrome
gene_symbol: TBX22
disease_id: ORPHA:921
disease_name: Abruzzo-Erickson syndrome
CHARGE-like syndrome
Cleft palate-coloboma-deafness syndrome
Cleft palate-coloboma-hearing loss 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: GJA5
disease_id: ORPHA:3303
disease_name: Tetralogy of Fallot
gene_symbol: TELO2
disease_id: OMIM:616954
disease_name: YOU-HOOVER-FONG SYNDROME
gene_symbol: TELO2
disease_id: ORPHA:488642
disease_name: TELO2-related intellectual disability-neurodevelopmental disorder
You-Hoover-Fong syndrome
gene_symbol: ARID2
disease_id: OMIM:617808
disease_name: COFFIN-SIRIS SYNDROME 6
gene_symbol: IFT57
disease_id: OMIM:617927
disease_name: OROFACIODIGITAL SYNDROME XVIII
gene_symbol: TCTN3
disease_id: OMIM:258860
disease_name: OROFACIODIGITAL SYNDROME IV
gene_symbol: TCTN3
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: HUWE1
disease_id: OMIM:309590
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE
gene_symbol: TCF12
disease_id: ORPHA:35099
disease_name: Non-syndromic bicoronal craniosynostosis
Isolated bicoronal craniosynostosis
Isolated brachycephaly
Non-syndromic bilateral coronal suture synostosis
gene_symbol: TCF12
disease_id: OMIM:615314
disease_name: CRANIOSYNOSTOSIS 3
gene_symbol: ZIC1
disease_id: ORPHA:35099
disease_name: Non-syndromic bicoronal craniosynostosis
Isolated bicoronal craniosynostosis
Isolated brachycephaly
Non-syndromic bilateral coronal suture synostosis
gene_symbol: FGD1
disease_id: OMIM:305400
disease_name: AARSKOG-SCOTT SYNDROME
gene_symbol: KLF13
disease_id: OMIM:612001
disease_name: CHROMOSOME 15q13.3 DELETION SYNDROME
gene_symbol: CHRNA7
disease_id: OMIM:612001
disease_name: CHROMOSOME 15q13.3 DELETION SYNDROME
gene_symbol: HDAC4
disease_id: ORPHA:1001
disease_name: 2q37 microdeletion syndrome
Albright hereditary osteodystrophy type 3
Albright hereditary osteodystrophy-like syndrome
Brachydactyly-intellectual disability syndrome
Del(2)(q37)
Deletion 2q37
Monosomy 2q37qter
gene_symbol: NKX2-5
disease_id: ORPHA:3303
disease_name: Tetralogy of Fallot
gene_symbol: NKX2-6
disease_id: ORPHA:3303
disease_name: Tetralogy of Fallot
gene_symbol: ZFPM2
disease_id: ORPHA:3303
disease_name: Tetralogy of Fallot
gene_symbol: GATA4
disease_id: ORPHA:3303
disease_name: Tetralogy of Fallot
gene_symbol: KDR
disease_id: ORPHA:3303
disease_name: Tetralogy of Fallot
gene_symbol: GATA6
disease_id: ORPHA:3303
disease_name: Tetralogy of Fallot
gene_symbol: GDF1
disease_id: ORPHA:3303
disease_name: Tetralogy of Fallot
gene_symbol: JAG1
disease_id: ORPHA:3303
disease_name: Tetralogy of Fallot
gene_symbol: TBX1
disease_id: ORPHA:3303
disease_name: Tetralogy of Fallot
gene_symbol: GATA5
disease_id: ORPHA:3303
disease_name: Tetralogy of Fallot
gene_symbol: FLT4
disease_id: ORPHA:3303
disease_name: Tetralogy of Fallot
gene_symbol: CITED2
disease_id: ORPHA:3303
disease_name: Tetralogy of Fallot
gene_symbol: FBXW11
disease_id: OMIM:618914
disease_name: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME
gene_symbol: PAH
disease_id: ORPHA:2209
disease_name: Maternal phenylketonuria
Hyperphenylalaninemic embryopathy
Maternal PKU
Maternal hyperphenylalaninemia
Phenylketonuric embryopathy
gene_symbol: MYMK
disease_id: ORPHA:1358
disease_name: Carey-Fineman-Ziter syndrome
Myopathy-Moebius-Robin syndrome
gene_symbol: MYMX
disease_id: ORPHA:1358
disease_name: Carey-Fineman-Ziter syndrome
Myopathy-Moebius-Robin syndrome
gene_symbol: DYM
disease_id: OMIM:223800
disease_name: DYGGVE-MELCHIOR-CLAUSEN DISEASE
gene_symbol: GPC4
disease_id: OMIM:301026
disease_name: KEIPERT SYNDROME
gene_symbol: RB1
disease_id: ORPHA:1587
disease_name: Monosomy 13q14 syndrome
Del(13)(q14)
Deletion 13q14
gene_symbol: KCNJ2
disease_id: OMIM:170390
disease_name: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
gene_symbol: KDM1A
disease_id: ORPHA:477993
disease_name: Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome
gene_symbol: WNT7A
disease_id: OMIM:613005
disease_name: SANTOS SYNDROME
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: DONSON
disease_id: OMIM:617604
disease_name: MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES
gene_symbol: PCNT
disease_id: OMIM:210720
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
gene_symbol: PCNT
disease_id: ORPHA:2637
disease_name: Microcephalic osteodysplastic primordial dwarfism type II
MOPD type II
Majewski osteodysplastic primordial dwarfism type II
gene_symbol: MAGEL2
disease_id: OMIM:615547
disease_name: SCHAAF-YANG SYNDROME
gene_symbol: CRIPT
disease_id: OMIM:615789
disease_name: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
gene_symbol: SNRPN
disease_id: ORPHA:177907
disease_name: Prader-Willi syndrome due to translocation
gene_symbol: LONP1
disease_id: ORPHA:1458
disease_name: CODAS syndrome
Cerebrooculodentoauriculoskeletal syndrome
gene_symbol: PORCN
disease_id: OMIM:305600
disease_name: FOCAL DERMAL HYPOPLASIA
gene_symbol: ATP7A
disease_id: ORPHA:198
disease_name: Occipital horn syndrome
gene_symbol: ALX1
disease_id: ORPHA:306542
disease_name: Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
ALX1-related frontonasal dysplasia
Frontonasal dysplasia type 3
gene_symbol: PTDSS1
disease_id: ORPHA:2658
disease_name: Lenz-Majewski hyperostotic dwarfism
gene_symbol: TWIST2
disease_id: OMIM:209885
disease_name: BARBER-SAY SYNDROME
gene_symbol: WNT4
disease_id: ORPHA:247768
disease_name: Müllerian aplasia and hyperandrogenism
Müllerian duct failure and hyperandrogenism
WNT4 deficiency
gene_symbol: PIGN
disease_id: ORPHA:280633
disease_name: Multiple congenital anomalies-hypotonia-seizures syndrome
Congenital disorder of glycosylation due to PIGN deficiency
PIGN-CDG
gene_symbol: TASP1
disease_id: OMIM:618950
disease_name: SULEIMAN-EL-HATTAB SYNDROME
gene_symbol: PTHLH
disease_id: OMIM:613382
disease_name: BRACHYDACTYLY, TYPE E2
gene_symbol: ATP6V1B2
disease_id: OMIM:124480
disease_name: DEAFNESS, CONGENITAL, WITH ONYCHODYSTROPHY, AUTOSOMAL DOMINANT
gene_symbol: C12orf57
disease_id: OMIM:218340
disease_name: TEMTAMY SYNDROME
gene_symbol: MAF
disease_id: OMIM:601088
disease_name: AYME-GRIPP SYNDROME
gene_symbol: PLCB3
disease_id: OMIM:618961
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY
gene_symbol: RHOA
disease_id: OMIM:618727
disease_name: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES
gene_symbol: TBX15
disease_id: ORPHA:93333
disease_name: Pelviscapular dysplasia
Cousin syndrome
Familial pelvis-scapular dysplasia
gene_symbol: TMEM231
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: TOPORS
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: PDE6D
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: TMEM216
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: FAM149B1
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: EXOSC2
disease_id: OMIM:617763
disease_name: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES
gene_symbol: EPB41L1
disease_id: OMIM:614257
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 11
gene_symbol: ADAMTSL2
disease_id: ORPHA:2623
disease_name: Geleophysic dysplasia
Geleophysic dwarfism
gene_symbol: INPPL1
disease_id: ORPHA:2746
disease_name: Opsismodysplasia
gene_symbol: MIR140
disease_id: OMIM:618618
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE
gene_symbol: RMP64
disease_id: OMIM:618853
disease_name: ANAUXETIC DYSPLASIA 3
gene_symbol: DYNLT2B
disease_id: OMIM:617405
disease_name: SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY
gene_symbol: MAP2K1
disease_id: OMIM:163950
disease_name: NOONAN SYNDROME 1
gene_symbol: BMP2
disease_id: OMIM:112600
disease_name: BRACHYDACTYLY, TYPE A2
gene_symbol: BMP2
disease_id: ORPHA:93396
disease_name: Brachydactyly type A2
Brachydactyly, Mohr-Wriedt type
gene_symbol: MYCN
disease_id: ORPHA:391641
disease_name: Feingold syndrome type 1
Brunner-Winter syndrome type 1
Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1
FGLDS1
FS1
MMT type 1
MODED syndrome type 1
Microcephaly-digital anomalies-normal intelligence syndrome type 1
Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1
Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1
ODED syndrome type 1
Oculo-digito-esophageal-duodenal syndrome type 1
gene_symbol: PUM1
disease_id: OMIM:620719
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM
gene_symbol: TFAP2B
disease_id: ORPHA:46627
disease_name: Char syndrome
Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
gene_symbol: IGF2
disease_id: OMIM:180860
disease_name: SILVER-RUSSELL SYNDROME 1
gene_symbol: NIN
disease_id: ORPHA:319675
disease_name: Microcephalic primordial dwarfism, Dauber type
gene_symbol: NIN
disease_id: OMIM:614851
disease_name: SECKEL SYNDROME 7
gene_symbol: PUF60
disease_id: ORPHA:508488
disease_name: 8q24.3 microdeletion syndrome
Del(8)(q24.3)
Deletion 8q24.3
Monosomy 8q24.3
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
gene_symbol: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: RBBP8
disease_id: OMIM:251255
disease_name: JAWAD SYNDROME
gene_symbol: SCNM1
disease_id: OMIM:620107
disease_name: OROFACIODIGITAL SYNDROME XIX
gene_symbol: PTH1R
disease_id: OMIM:600002
disease_name: EIKEN SYNDROME