Phenotype: Abnormality of the cervical spine (HP:0003319)
Associated genes and diseases:
gene_symbol: DHCR24
disease_id: OMIM:602398
disease_name: DESMOSTEROLOSIS
gene_symbol: DHCR24
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SHOC2
disease_id: OMIM:607721
disease_name: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
gene_symbol: SHOC2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MAN1B1
disease_id: ORPHA:397941
disease_name: MAN1B1-CDG
Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency
Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency
Congenital disorder of glycosylation type II due to MAN1B1 deficiency
Intellectual disability-truncal obesity syndrome
gene_symbol: MAN1B1
disease_id: OMIM:614202
disease_name: RAFIQ SYNDROME
gene_symbol: H4C5
disease_id: OMIM:619950
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3
gene_symbol: LZTR1
disease_id: OMIM:616564
disease_name: NOONAN SYNDROME 10
gene_symbol: LZTR1
disease_id: OMIM:605275
disease_name: NOONAN SYNDROME 2
gene_symbol: LZTR1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RIT1
disease_id: OMIM:615355
disease_name: NOONAN SYNDROME 8
gene_symbol: RIT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BRF1
disease_id: OMIM:616202
disease_name: CEREBELLOFACIODENTAL SYNDROME
gene_symbol: BRF1
disease_id: ORPHA:444072
disease_name: Cerebellar-facial-dental syndrome
Cerebellofaciodental syndrome
gene_symbol: BRF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CUL7
disease_id: ORPHA:2616
disease_name: 3M syndrome
3-M syndrome
Yakut short stature syndrome
gene_symbol: CUL7
disease_id: OMIM:273750
disease_name: THREE M SYNDROME 1
gene_symbol: CUL7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: OBSL1
disease_id: ORPHA:2616
disease_name: 3M syndrome
3-M syndrome
Yakut short stature syndrome
gene_symbol: OBSL1
disease_id: OMIM:612921
disease_name: THREE M SYNDROME 2
gene_symbol: OBSL1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CCDC8
disease_id: ORPHA:2616
disease_name: 3M syndrome
3-M syndrome
Yakut short stature syndrome
gene_symbol: CCDC8
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CCDC8
disease_id: OMIM:614205
disease_name: THREE M SYNDROME 3
gene_symbol: SMPD4
disease_id: OMIM:618622
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES
gene_symbol: ASCC3
disease_id: OMIM:620700
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81
gene_symbol: PLXNA1
disease_id: OMIM:619955
disease_name: DWORSCHAK-PUNETHA NEURODEVELOPMENTAL 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: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: SLC26A2
disease_id: OMIM:256050
disease_name: ATELOSTEOGENESIS, TYPE II
gene_symbol: SLC26A2
disease_id: ORPHA:93298
disease_name: Achondrogenesis type 1B
Achondrogenesis, Parenti-Fraccaro type
gene_symbol: SLC26A2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MAN2B1
disease_id: ORPHA:309282
disease_name: Alpha-mannosidosis, infantile form
Lysosomal alpha-D-mannosidase deficiency, infantile form
gene_symbol: MAN2B1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SOX9
disease_id: ORPHA:140
disease_name: Campomelic dysplasia
Campomelic dwarfism
gene_symbol: SOX9
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WWOX
disease_id: OMIM:616211
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28
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: DVL1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FREM2
disease_id: OMIM:617666
disease_name: FRASER SYNDROME 2
gene_symbol: VPS33A
disease_id: OMIM:617303
disease_name: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME
gene_symbol: VPS33A
disease_id: ORPHA:505248
disease_name: Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
Mucopolysaccharidosis-like plus disease
gene_symbol: VPS33A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ATP6V1B2
disease_id: OMIM:616455
disease_name: ZIMMERMANN-LABAND SYNDROME 2
gene_symbol: ATP6V1B2
disease_id: ORPHA:3473
disease_name: Zimmermann-Laband syndrome
Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome
Laband syndrome
gene_symbol: CBS
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: FBN1
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: FBN1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MFAP5
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: IPO8
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: THSD4
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: TGFB2
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: TGFB2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: AEBP1
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: AEBP1
disease_id: OMIM:618000
disease_name: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2
gene_symbol: FKBP14
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: FKBP14
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TGFBR1
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: TGFBR1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL3A1
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: SKI
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: SKI
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: SKI
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PLOD1
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: PLOD1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NPR3
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: NPR3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SMAD3
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: SMAD3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PMEPA1
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: EFEMP1
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: EFEMP2
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: LTBP3
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: LTBP3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ASPH
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: FBN2
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: FBN2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EMILIN1
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: LOX
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: SLC2A10
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: TGFB3
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: TGFB3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TGFBR2
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: TGFBR2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BGN
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: BGN
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NPR2
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: NPR2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ABL1
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: SMAD2
disease_id: OMIM:121050
disease_name: CONTRACTURAL ARACHNODACTYLY, CONGENITAL
gene_symbol: SMAD2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KCNJ8
disease_id: ORPHA:1517
disease_name: Cantú syndrome
Congenital hypertrichosis-acromegaloid facial features spectrum
Congenital hypertrichosis-coarse facial features spectrum
Hypertrichotic osteochondrodysplasia
gene_symbol: ABCC9
disease_id: ORPHA:1517
disease_name: Cantú syndrome
Congenital hypertrichosis-acromegaloid facial features spectrum
Congenital hypertrichosis-coarse facial features spectrum
Hypertrichotic osteochondrodysplasia
gene_symbol: ABCC9
disease_id: OMIM:239850
disease_name: CANTU SYNDROME
gene_symbol: ABCC9
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GNPTG
disease_id: OMIM:252605
disease_name: MUCOLIPIDOSIS III GAMMA
gene_symbol: GNPTG
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RMRP
disease_id: ORPHA:175
disease_name: Cartilage-hair hypoplasia
Autosomal recessive metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia, McKusick type
gene_symbol: RMRP
disease_id: OMIM:607095
disease_name: ANAUXETIC DYSPLASIA 1
gene_symbol: RMRP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TRAPPC9
disease_id: OMIM:613192
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13
gene_symbol: CDK5
disease_id: OMIM:616342
disease_name: LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA
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: XYLT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: XYLT1
disease_id: ORPHA:1425
disease_name: Desbuquois syndrome
DBQD
Desbuquois dysplasia
gene_symbol: XYLT2
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: XYLT2
disease_id: ORPHA:85194
disease_name: Spondylo-ocular syndrome
gene_symbol: XYLT2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: XYLT2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PLOD3
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: PLOD3
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: GZF1
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: GZF1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: GZF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: B3GAT3
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: B3GAT3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
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: PIEZO2
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: PIEZO2
disease_id: OMIM:114300
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 3
gene_symbol: PIEZO2
disease_id: OMIM:248700
disease_name: MARDEN-WALKER SYNDROME
gene_symbol: B4GALT7
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: B4GALT7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
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: CANT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CANT1
disease_id: ORPHA:1425
disease_name: Desbuquois syndrome
DBQD
Desbuquois dysplasia
gene_symbol: KIF22
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: KIF22
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: B3GALT6
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
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: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GORAB
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: GORAB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CHST3
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: CHST3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
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: CSGALNACT1
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: CSGALNACT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CSGALNACT1
disease_id: ORPHA:1425
disease_name: Desbuquois syndrome
DBQD
Desbuquois dysplasia
gene_symbol: PAICS
disease_id: OMIM:619859
disease_name: PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY
gene_symbol: COL6A2
disease_id: OMIM:620727
disease_name: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1B
gene_symbol: COL6A2
disease_id: ORPHA:75840
disease_name: Ullrich congenital muscular dystrophy
UCMD
Ullrich scleroatonic muscular dystrophy
gene_symbol: NOTCH2
disease_id: OMIM:102500
disease_name: HAJDU-CHENEY SYNDROME
gene_symbol: NOTCH2
disease_id: ORPHA:955
disease_name: Hajdu-Cheney syndrome
Acroosteolysis dominant type
Acroosteolysis with osteoporosis and changes in skull and mandible
Arthrodentoosteodysplasia
Cheney syndrome
gene_symbol: NOTCH2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SCYL2
disease_id: OMIM:618766
disease_name: ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM
gene_symbol: NXN
disease_id: ORPHA:1507
disease_name: Autosomal recessive Robinow syndrome
COVESDEM syndrome
Costovertebral segmentation defect-mesomelia syndrome
RRS
gene_symbol: NXN
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
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: ROR2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NSD1
disease_id: ORPHA:1627
disease_name: Deletion 5q35 syndrome
Del (5)(q35)
Del (5)(qter)
Distal 5q deletion
Monosomy 5q35
Telomeric deletion 5q
gene_symbol: NSD1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NKX2-5
disease_id: ORPHA:1627
disease_name: Deletion 5q35 syndrome
Del (5)(q35)
Del (5)(qter)
Distal 5q deletion
Monosomy 5q35
Telomeric deletion 5q
gene_symbol: HSPG2
disease_id: ORPHA:1865
disease_name: Dyssegmental dysplasia, Silverman-Handmaker type
gene_symbol: HSPG2
disease_id: OMIM:255800
disease_name: SCHWARTZ-JAMPEL SYNDROME, TYPE 1
gene_symbol: HSPG2
disease_id: ORPHA:800
disease_name: Schwartz-Jampel syndrome
Aberfeld syndrome
Burton skeletal dysplasia
Burton syndrome
Catel-Hempel syndrome
Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
Myotonic chondrodystrophy
Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
Osteochondromuscular dystrophy
SJS
SJS1
Schwartz-Jampel syndrome type 1
Schwartz-Jampel-Aberfeld syndrome
gene_symbol: HSPG2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GATA4
disease_id: ORPHA:251071
disease_name: 8p23.1 microdeletion syndrome
Del(8)(p23.1)
Monosomy 8p23.1
gene_symbol: TRPV4
disease_id: OMIM:113500
disease_name: BRACHYOLMIA TYPE 3
gene_symbol: TRPV4
disease_id: OMIM:168400
disease_name: PARASTREMMATIC DWARFISM
gene_symbol: TRPV4
disease_id: OMIM:184095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
gene_symbol: TRPV4
disease_id: OMIM:184252
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
gene_symbol: TRPV4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TFAP2A
disease_id: OMIM:113620
disease_name: BRANCHIOOCULOFACIAL SYNDROME
gene_symbol: CTNND2
disease_id: ORPHA:281
disease_name: Monosomy 5p syndrome
Cri du chat syndrome
Deletion 5p
gene_symbol: SEMA5A
disease_id: ORPHA:281
disease_name: Monosomy 5p syndrome
Cri du chat syndrome
Deletion 5p
gene_symbol: COL11A1
disease_id: OMIM:228520
disease_name: FIBROCHONDROGENESIS 1
gene_symbol: COL11A1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL11A1
disease_id: ORPHA:2021
disease_name: Fibrochondrogenesis
gene_symbol: COL11A1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TBCK
disease_id: ORPHA:488632
disease_name: TBCK-related intellectual disability syndrome
gene_symbol: TBCK
disease_id: OMIM:616900
disease_name: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
gene_symbol: SPRED2
disease_id: OMIM:619745
disease_name: NOONAN SYNDROME 14
gene_symbol: SPRED2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NR4A2
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: 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: SETBP1
disease_id: OMIM:269150
disease_name: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME
gene_symbol: SETBP1
disease_id: ORPHA:798
disease_name: Schinzel-Giedion syndrome
SGS
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: MGAT2
disease_id: OMIM:212066
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa
gene_symbol: IGBP1
disease_id: ORPHA:52055
disease_name: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Graham-Cox syndrome
gene_symbol: IGBP1
disease_id: OMIM:300472
disease_name: CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA
gene_symbol: SALL4
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: SALL4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MAFB
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: MAFB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CHN1
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: EFNB1
disease_id: OMIM:304110
disease_name: CRANIOFRONTONASAL SYNDROME
gene_symbol: EFNB1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BBIP1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CEP290
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CEP290
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFT27
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS1
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: 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: MKS1
disease_id: OMIM:249000
disease_name: MECKEL SYNDROME, TYPE 1
gene_symbol: MKS1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
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: IFT172
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT172
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BBS2
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS2
disease_id: OMIM:615981
disease_name: BARDET-BIEDL SYNDROME 2
gene_symbol: BBS4
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: MKKS
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: LZTFL1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
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: ARL6
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: IFT74
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: TECPR2
disease_id: OMIM:615031
disease_name: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
gene_symbol: TECPR2
disease_id: ORPHA:320385
disease_name: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
Autosomal recessive spastic paraplegia type 49
HSAN due to TECPR2 mutation
SPG49
gene_symbol: POGZ
disease_id: OMIM:616364
disease_name: WHITE-SUTTON SYNDROME
gene_symbol: POGZ
disease_id: ORPHA:468678
disease_name: White-Sutton syndrome
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
gene_symbol: OTUD6B
disease_id: OMIM:617452
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES
gene_symbol: OTUD6B
disease_id: ORPHA:505237
disease_name: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
gene_symbol: IL6ST
disease_id: OMIM:619750
disease_name: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES
gene_symbol: IL6ST
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PAFAH1B1
disease_id: ORPHA:217385
disease_name: 17p13.3 microduplication syndrome
17p13.3 duplication syndrome
Dup(17)(p13.3)
Trisomy 17p13.3
gene_symbol: YWHAE
disease_id: ORPHA:217385
disease_name: 17p13.3 microduplication syndrome
17p13.3 duplication syndrome
Dup(17)(p13.3)
Trisomy 17p13.3
gene_symbol: MAP2K1
disease_id: OMIM:615279
disease_name: CARDIOFACIOCUTANEOUS SYNDROME 3
gene_symbol: MAP2K1
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: MAP2K1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MAP2K1
disease_id: OMIM:163950
disease_name: NOONAN SYNDROME 1
gene_symbol: TIMM50
disease_id: OMIM:617698
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX
gene_symbol: TXNDC15
disease_id: OMIM:619879
disease_name: MECKEL SYNDROME 14
gene_symbol: GUSB
disease_id: ORPHA:584
disease_name: Mucopolysaccharidosis type 7
Beta-glucuronidase deficiency
MPS7
MPSVII
Mucopolysaccharidosis type VII
Sly disease
gene_symbol: GUSB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GUSB
disease_id: OMIM:253220
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE VII
gene_symbol: GLI2
disease_id: OMIM:610829
disease_name: HOLOPROSENCEPHALY 9
gene_symbol: GLI2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ALG9
disease_id: ORPHA:79328
disease_name: ALG9-CDG
CDG syndrome type IL
CDG-IL
CDG1L
Carbohydrate deficient glycoprotein syndrome type IL
Congenital disorder of glycosylation type 1L
Mannosyltransferase 7-9 deficiency
gene_symbol: ALG9
disease_id: OMIM:608776
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il
gene_symbol: ALG9
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ALG9
disease_id: OMIM:263210
disease_name: GILLESSEN-KAESBACH-NISHIMURA SYNDROME
gene_symbol: TBL1XR1
disease_id: OMIM:602342
disease_name: PIERPONT SYNDROME
gene_symbol: TBL1XR1
disease_id: ORPHA:487825
disease_name: Pierpont syndrome
Plantar lipomatosis-facial dysmorphism-developmental delay syndrome
Plantar lipomatosis-unusual facies-developmental delay syndrome
gene_symbol: BAP1
disease_id: OMIM:619762
disease_name: KURY-ISIDOR SYNDROME
gene_symbol: SMARCAL1
disease_id: ORPHA:1830
disease_name: Schimke immuno-osseous dysplasia
Schimke syndrome
Spondyloepiphyseal dysplasia-nephrotic syndrome
gene_symbol: SMARCAL1
disease_id: OMIM:242900
disease_name: SCHIMKE IMMUNOOSSEOUS DYSPLASIA
gene_symbol: SMARCAL1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MED12
disease_id: OMIM:305450
disease_name: OPITZ-KAVEGGIA SYNDROME
gene_symbol: PALB2
disease_id: OMIM:610832
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP N
gene_symbol: TCF4
disease_id: OMIM:610954
disease_name: PITT-HOPKINS SYNDROME
gene_symbol: TCF4
disease_id: ORPHA:2896
disease_name: Pitt-Hopkins syndrome
gene_symbol: FLNA
disease_id: OMIM:304120
disease_name: OTOPALATODIGITAL SYNDROME, TYPE II
gene_symbol: FLNA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COG7
disease_id: ORPHA:79333
disease_name: COG7-CDG
CDG syndrome type IIe
CDG-IIe
CDG2E
Carbohydrate deficient glycoprotein syndrome type IIe
Congenital disorder of glycosylation type 2e
Congenital disorder of glycosylation type IIe
gene_symbol: COG7
disease_id: OMIM:608779
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe
gene_symbol: SHOX
disease_id: ORPHA:314795
disease_name: SHOX-related short stature
gene_symbol: SHOX
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FAM20C
disease_id: ORPHA:1832
disease_name: Osteosclerotic bone dysplasia
Raine syndrome
gene_symbol: FAM20C
disease_id: OMIM:259775
disease_name: RAINE SYNDROME
gene_symbol: FAM20C
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GABRA3
disease_id: OMIM:301091
disease_name: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES
gene_symbol: MYH3
disease_id: OMIM:178110
disease_name: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A
gene_symbol: MYH3
disease_id: OMIM:618469
disease_name: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B
gene_symbol: MYH3
disease_id: OMIM:193700
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 2A
gene_symbol: MYH3
disease_id: ORPHA:3275
disease_name: Spondylocarpotarsal synostosis
Synspondylism
gene_symbol: MYH3
disease_id: ORPHA:1147
disease_name: Sheldon-Hall syndrome
DA2B
Distal arthrogryposis multiplex congenita type 2B
Distal arthrogryposis type 2B
Freeman-Sheldon syndrome variant
SSH
gene_symbol: MYH3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GPC4
disease_id: ORPHA:373
disease_name: Simpson-Golabi-Behmel syndrome
DGSX
Golabi-Rosen syndrome
SDYS
SGBS
SGBS1
Simpson dysmorphia syndrome
Simpson-Golabi-Behmel syndrome type 1
X-linked dysplasia gigantism syndrome
gene_symbol: GPC3
disease_id: ORPHA:373
disease_name: Simpson-Golabi-Behmel syndrome
DGSX
Golabi-Rosen syndrome
SDYS
SGBS
SGBS1
Simpson dysmorphia syndrome
Simpson-Golabi-Behmel syndrome type 1
X-linked dysplasia gigantism syndrome
gene_symbol: GPC3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FANCL
disease_id: OMIM:614083
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP L
gene_symbol: IDS
disease_id: OMIM:309900
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE II
gene_symbol: IDS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NALCN
disease_id: OMIM:616266
disease_name: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
gene_symbol: NALCN
disease_id: ORPHA:562528
disease_name: Congenital limbs-face contractures-hypotonia-developmental delay syndrome
CLIFAHDD syndrome
gene_symbol: NALCN
disease_id: ORPHA:1147
disease_name: Sheldon-Hall syndrome
DA2B
Distal arthrogryposis multiplex congenita type 2B
Distal arthrogryposis type 2B
Freeman-Sheldon syndrome variant
SSH
gene_symbol: TGDS
disease_id: OMIM:616145
disease_name: CATEL-MANZKE SYNDROME
gene_symbol: TGDS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FGFR1
disease_id: OMIM:166250
disease_name: OSTEOGLOPHONIC DYSPLASIA
gene_symbol: FGFR1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NIPBL
disease_id: OMIM:122470
disease_name: CORNELIA DE LANGE SYNDROME 1
gene_symbol: NIPBL
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NIPBL
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: GLB1
disease_id: OMIM:230500
disease_name: GM1-GANGLIOSIDOSIS, TYPE I
gene_symbol: GLB1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WNT7A
disease_id: OMIM:276820
disease_name: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY
gene_symbol: WNT7A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WNT7A
disease_id: ORPHA:2879
disease_name: Phocomelia, Schinzel type
Al Awadi-Raas-Rothschild syndrome
Aplasia/hypoplasia of limbs and pelvis
Congenital absence of ulna and fibula
Severe limb deficit
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:94089
disease_name: Pseudohypoparathyroidism type 1B
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: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GNAS
disease_id: OMIM:103580
disease_name: PSEUDOHYPOPARATHYROIDISM, TYPE IA
gene_symbol: COL2A1
disease_id: ORPHA:485
disease_name: Kniest dysplasia
gene_symbol: COL2A1
disease_id: ORPHA:94068
disease_name: Spondyloepiphyseal dysplasia congenita
Congenital spondyloepiphyseal dysplasia
SEDC
Spranger-Wiedemann disease
gene_symbol: COL2A1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL2A1
disease_id: OMIM:183900
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
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: ORPHA:93315
disease_name: Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Sutcliffe type
gene_symbol: COL2A1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RPL15
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS20
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL35A
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL8
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS19
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS19
disease_id: OMIM:105650
disease_name: DIAMOND-BLACKFAN ANEMIA 1
gene_symbol: RPS27
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: HEATR3
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL31
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS7
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL27
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS28
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL11
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS24
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL5
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS10
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: GATA1
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL9
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS26
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL35
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS17
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL26
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS15A
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: TSR2
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL18
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS29
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: ADA2
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: KRAS
disease_id: OMIM:600268
disease_name: OCULOECTODERMAL SYNDROME
gene_symbol: KRAS
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: KRAS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KRAS
disease_id: OMIM:609942
disease_name: NOONAN SYNDROME 3
gene_symbol: RYR1
disease_id: OMIM:619542
disease_name: KING-DENBOROUGH SYNDROME
gene_symbol: IFT140
disease_id: OMIM:266920
disease_name: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
gene_symbol: IFT140
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RIPK4
disease_id: OMIM:263650
disease_name: BARTSOCAS-PAPAS SYNDROME
gene_symbol: INTS1
disease_id: OMIM:618571
disease_name: NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES
gene_symbol: ECEL1
disease_id: OMIM:615065
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 5D
gene_symbol: ECEL1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TRMT10A
disease_id: OMIM:616033
disease_name: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1
gene_symbol: TRMT10A
disease_id: ORPHA:391408
disease_name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
gene_symbol: PSAT1
disease_id: OMIM:616038
disease_name: NEU-LAXOVA SYNDROME 2
gene_symbol: PSAT1
disease_id: ORPHA:284417
disease_name: Phosphoserine aminotransferase deficiency, infantile/juvenile form
PSAT deficiency, infantile/juvenile form
gene_symbol: PSAT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POLE
disease_id: OMIM:618336
disease_name: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY
gene_symbol: POLE
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FILIP1
disease_id: OMIM:620775
disease_name: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES
gene_symbol: SOS1
disease_id: OMIM:610733
disease_name: NOONAN SYNDROME 4
gene_symbol: SOS1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DYM
disease_id: ORPHA:239
disease_name: Dyggve-Melchior-Clausen disease
gene_symbol: DYM
disease_id: OMIM:607326
disease_name: SMITH-MCCORT DYSPLASIA 1
gene_symbol: DYM
disease_id: OMIM:223800
disease_name: DYGGVE-MELCHIOR-CLAUSEN DISEASE
gene_symbol: DYM
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GPX4
disease_id: OMIM:250220
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE
gene_symbol: GPX4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: AMMECR1
disease_id: OMIM:300990
disease_name: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
gene_symbol: AMMECR1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DDR2
disease_id: OMIM:271665
disease_name: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
gene_symbol: DDR2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
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: PUF60
disease_id: ORPHA:508488
disease_name: 8q24.3 microdeletion syndrome
Del(8)(q24.3)
Deletion 8q24.3
Monosomy 8q24.3
gene_symbol: PUF60
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PUF60
disease_id: OMIM:615583
disease_name: VERHEIJ SYNDROME
gene_symbol: DDRGK1
disease_id: OMIM:602557
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE
gene_symbol: DDRGK1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DDRGK1
disease_id: ORPHA:93352
disease_name: Spondyloepimetaphyseal dysplasia, Shohat type
SEMD, Shohat type
gene_symbol: COG5
disease_id: ORPHA:263487
disease_name: COG5-CDG
CDG syndrome type IIi
CDG-IIi
CDG2I
Carbohydrate deficient glycoprotein syndrome type IIi
Congenital disorder of glycosylation type 2i
Congenital disorder of glycosylation type IIi
gene_symbol: TBX2
disease_id: OMIM:618223
disease_name: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
gene_symbol: FANCB
disease_id: OMIM:300514
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP B
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: SATB2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: STX16
disease_id: ORPHA:94089
disease_name: Pseudohypoparathyroidism type 1B
gene_symbol: HDAC8
disease_id: OMIM:300882
disease_name: CORNELIA DE LANGE SYNDROME 5
gene_symbol: HDAC8
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HDAC8
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: NEK9
disease_id: OMIM:617022
disease_name: LETHAL CONGENITAL CONTRACTURE SYNDROME 10
gene_symbol: NEK9
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FANCI
disease_id: OMIM:609053
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP I
gene_symbol: SRRM2
disease_id: OMIM:620439
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72
gene_symbol: CLDN11
disease_id: OMIM:619328
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 22
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: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SMC3
disease_id: OMIM:610759
disease_name: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
gene_symbol: SMC3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SMC3
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: FTO
disease_id: OMIM:612938
disease_name: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM
gene_symbol: IDH1
disease_id: ORPHA:99646
disease_name: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
MC-HGA
gene_symbol: IDH1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NF1
disease_id: OMIM:601321
disease_name: NEUROFIBROMATOSIS-NOONAN SYNDROME
gene_symbol: NF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HBA1
disease_id: ORPHA:98791
disease_name: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
ATR syndrome linked to chromosome 16
ATR syndrome, deletion type
ATR-16 syndrome
Alpha thalassemia-intellectual disability syndrome, deletion type
gene_symbol: HBA2
disease_id: ORPHA:98791
disease_name: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
ATR syndrome linked to chromosome 16
ATR syndrome, deletion type
ATR-16 syndrome
Alpha thalassemia-intellectual disability syndrome, deletion type
gene_symbol: POP1
disease_id: OMIM:617396
disease_name: ANAUXETIC DYSPLASIA 2
gene_symbol: POP1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
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: NAA10
disease_id: OMIM:300855
disease_name: OGDEN SYNDROME
gene_symbol: GPC6
disease_id: OMIM:258315
disease_name: OMODYSPLASIA 1
gene_symbol: GPC6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PLAAT3
disease_id: OMIM:620683
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9
gene_symbol: MED13L
disease_id: ORPHA:369891
disease_name: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
MED13L-related intellectual disability syndrome
gene_symbol: MED13L
disease_id: OMIM:616789
disease_name: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
gene_symbol: COMT
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: JMJD1C
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: GP1BB
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: RREB1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: RREB1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TBX1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: HIRA
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: SEC24C
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: UFD1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: ARVCF
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: HRAS
disease_id: ORPHA:3071
disease_name: Costello syndrome
FCS syndrome
Faciocutaneoskeletal syndrome
gene_symbol: HRAS
disease_id: OMIM:218040
disease_name: COSTELLO SYNDROME
gene_symbol: HRAS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: UBE2A
disease_id: OMIM:300860
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
gene_symbol: VCAN
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL9A1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL9A1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL9A2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL9A2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL9A3
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL9A3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL11A2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL11A2
disease_id: ORPHA:2021
disease_name: Fibrochondrogenesis
gene_symbol: COL11A2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL11A2
disease_id: ORPHA:1427
disease_name: Autosomal recessive otospondylomegaepiphyseal dysplasia
OSMED
gene_symbol: KCNJ13
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: LRP2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: BMP4
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: SLITRK6
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: P3H2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: LOXL3
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: LIFR
disease_id: OMIM:601559
disease_name: STUVE-WIEDEMANN SYNDROME
gene_symbol: LIFR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PIGA
disease_id: OMIM:300868
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
gene_symbol: CRLF1
disease_id: OMIM:272430
disease_name: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1
gene_symbol: RFX7
disease_id: OMIM:620330
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES
gene_symbol: GNPNAT1
disease_id: OMIM:619598
disease_name: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE
gene_symbol: GNPNAT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DOK7
disease_id: OMIM:618389
disease_name: FETAL AKINESIA DEFORMATION SEQUENCE 3
gene_symbol: MYL11
disease_id: OMIM:619110
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 1C
gene_symbol: MYL11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
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: 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: 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: TRPM3
disease_id: OMIM:620224
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES
gene_symbol: NUP88
disease_id: OMIM:618393
disease_name: FETAL AKINESIA DEFORMATION SEQUENCE 4
gene_symbol: INPPL1
disease_id: OMIM:258480
disease_name: OPSISMODYSPLASIA
gene_symbol: INPPL1
disease_id: ORPHA:3144
disease_name: Schneckenbecken dysplasia
Chondrodysplasia with snail-like pelvis
SLC35D1-CDG
gene_symbol: INPPL1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TUBB
disease_id: OMIM:156610
disease_name: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1
gene_symbol: TAF1
disease_id: OMIM:300966
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33
gene_symbol: MADD
disease_id: OMIM:619004
disease_name: DEEAH SYNDROME
gene_symbol: RAB23
disease_id: OMIM:201000
disease_name: CARPENTER SYNDROME 1
gene_symbol: RAB23
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EXOC6B
disease_id: OMIM:618395
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3
gene_symbol: EXOC6B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FHL1
disease_id: OMIM:300718
disease_name: REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET
gene_symbol: FHL1
disease_id: OMIM:300696
disease_name: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY
gene_symbol: FHL1
disease_id: ORPHA:98863
disease_name: X-linked Emery-Dreifuss muscular dystrophy
gene_symbol: ALDOA
disease_id: OMIM:611881
disease_name: GLYCOGEN STORAGE DISEASE XII
gene_symbol: CUL4B
disease_id: ORPHA:85293
disease_name: X-linked intellectual disability, Cabezas type
Cabezas syndrome
gene_symbol: SLC35D1
disease_id: OMIM:269250
disease_name: SCHNECKENBECKEN DYSPLASIA
gene_symbol: SLC35D1
disease_id: ORPHA:3144
disease_name: Schneckenbecken dysplasia
Chondrodysplasia with snail-like pelvis
SLC35D1-CDG
gene_symbol: SLC35D1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PPP1R15B
disease_id: ORPHA:391408
disease_name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
gene_symbol: MEOX1
disease_id: OMIM:214300
disease_name: KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE
gene_symbol: MEOX1
disease_id: ORPHA:2345
disease_name: Isolated Klippel-Feil syndrome
Congenital cervical vertebral fusion
Congenital fused cervical segments
Klippel-Feil malformation
Klippel-Feil sequence
gene_symbol: MEOX1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GNS
disease_id: OMIM:252940
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IIID
gene_symbol: GNS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BRAF
disease_id: OMIM:613707
disease_name: LEOPARD SYNDROME 3
gene_symbol: BRAF
disease_id: OMIM:613706
disease_name: NOONAN SYNDROME 7
gene_symbol: BRAF
disease_id: OMIM:115150
disease_name: CARDIOFACIOCUTANEOUS SYNDROME 1
gene_symbol: BRAF
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: BRAF
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BRAF
disease_id: OMIM:163950
disease_name: NOONAN SYNDROME 1
gene_symbol: MAB21L1
disease_id: ORPHA:495875
disease_name: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
gene_symbol: TRAF7
disease_id: OMIM:618164
disease_name: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY
gene_symbol: RSPRY1
disease_id: ORPHA:457395
disease_name: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
gene_symbol: RSPRY1
disease_id: OMIM:616723
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE
gene_symbol: RSPRY1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GLE1
disease_id: OMIM:611890
disease_name: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE
gene_symbol: GLE1
disease_id: ORPHA:1486
disease_name: Lethal congenital contracture syndrome type 1
Herva disease
LCCS1
Multiple contracture syndrome, Finnish type
gene_symbol: NBAS
disease_id: OMIM:614800
disease_name: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY
gene_symbol: NBAS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BMPER
disease_id: ORPHA:66637
disease_name: Diaphanospondylodysostosis
DSD
gene_symbol: BMPER
disease_id: OMIM:608022
disease_name: DIAPHANOSPONDYLODYSOSTOSIS
gene_symbol: BMPER
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NANS
disease_id: OMIM:610442
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE
gene_symbol: NANS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SCN4A
disease_id: OMIM:620369
disease_name: CONGENITAL MYOPATHY 22B, SEVERE FETAL
gene_symbol: NBN
disease_id: ORPHA:647
disease_name: Nijmegen breakage syndrome
AT V1
Ataxia-telangiectasia, variant 1
Berlin breakage syndrome
Immunodeficiency-microcephaly-chromosomal instability syndrome
Microcephaly-immunodeficiency-lymphoid malignancy syndrome
NBS
Seemanova syndrome type 2
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: WNT5A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PTCH1
disease_id: ORPHA:77301
disease_name: Monosomy 9q22.3 syndrome
Microdeletion 9q22.3
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: VPS35L
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DPYSL5
disease_id: ORPHA:7
disease_name: 3C syndrome
Craniocerebellocardiac dysplasia
Ritscher-Schinzel syndrome
gene_symbol: TBX15
disease_id: OMIM:260660
disease_name: COUSIN SYNDROME
gene_symbol: TBX15
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TBX15
disease_id: ORPHA:93333
disease_name: Pelviscapular dysplasia
Cousin syndrome
Familial pelvis-scapular dysplasia
gene_symbol: HPDL
disease_id: OMIM:619026
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES
gene_symbol: LHX3
disease_id: ORPHA:231720
disease_name: Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome
gene_symbol: LHX3
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: LHX3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LHX3
disease_id: OMIM:221750
disease_name: PITUITARY HORMONE DEFICIENCY, COMBINED, 3
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: HECTD4
disease_id: OMIM:620250
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM
gene_symbol: SMC1A
disease_id: OMIM:300590
disease_name: CORNELIA DE LANGE SYNDROME 2
gene_symbol: SMC1A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SMC1A
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: TRAPPC2
disease_id: ORPHA:93284
disease_name: Spondyloepiphyseal dysplasia tarda
gene_symbol: TRAPPC2
disease_id: OMIM:313400
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED
gene_symbol: TRAPPC2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: AIFM1
disease_id: OMIM:300232
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY
gene_symbol: AIFM1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: APC
disease_id: ORPHA:261584
disease_name: Familial adenomatous polyposis due to 5q22.2 microdeletion
Colorectal adenomatous polyposis due to monosomy 5q22.2
FAP due to monosomy 5q22.2
Familial adenomatous polyposis due to del(5)(q22.2)
Familial adenomatous polyposis due to monosomy 5q22.2
Familial polyposis coli due to monosomy 5q22.2
gene_symbol: EXOSC9
disease_id: OMIM:618065
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D
gene_symbol: KIFBP
disease_id: OMIM:609460
disease_name: GOLDBERG-SHPRINTZEN SYNDROME
gene_symbol: PIGN
disease_id: ORPHA:2059
disease_name: Fryns syndrome
Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome
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: SPRED1
disease_id: OMIM:611431
disease_name: LEGIUS SYNDROME
gene_symbol: SPRED1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RAF1
disease_id: OMIM:611554
disease_name: LEOPARD SYNDROME 2
gene_symbol: RAF1
disease_id: OMIM:611553
disease_name: NOONAN SYNDROME 5
gene_symbol: RAF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WDR35
disease_id: OMIM:613610
disease_name: CRANIOECTODERMAL DYSPLASIA 2
gene_symbol: WDR35
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ANTXR2
disease_id: ORPHA:2176
disease_name: Infantile systemic hyalinosis
gene_symbol: ANTXR2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL12A1
disease_id: ORPHA:75840
disease_name: Ullrich congenital muscular dystrophy
UCMD
Ullrich scleroatonic muscular dystrophy
gene_symbol: COL6A1
disease_id: ORPHA:75840
disease_name: Ullrich congenital muscular dystrophy
UCMD
Ullrich scleroatonic muscular dystrophy
gene_symbol: COL6A3
disease_id: ORPHA:75840
disease_name: Ullrich congenital muscular dystrophy
UCMD
Ullrich scleroatonic muscular dystrophy
gene_symbol: ACTA1
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: TPM2
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: TPM2
disease_id: ORPHA:1147
disease_name: Sheldon-Hall syndrome
DA2B
Distal arthrogryposis multiplex congenita type 2B
Distal arthrogryposis type 2B
Freeman-Sheldon syndrome variant
SSH
gene_symbol: NEB
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: KLHL41
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: LMOD3
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: CFL2
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: LMX1B
disease_id: ORPHA:495818
disease_name: 9q33.3q34.11 microdeletion syndrome
Del(9)(q33.3q34.11)
Deletion 9q33.3q34.11
Monosomy 9q33.3q34.11
gene_symbol: LMX1B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: STXBP1
disease_id: ORPHA:495818
disease_name: 9q33.3q34.11 microdeletion syndrome
Del(9)(q33.3q34.11)
Deletion 9q33.3q34.11
Monosomy 9q33.3q34.11
gene_symbol: PGAP1
disease_id: OMIM:615802
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42
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: SRCAP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DHCR7
disease_id: ORPHA:818
disease_name: Smith-Lemli-Opitz syndrome
7-dehydrocholesterol reductase deficiency
RSH syndrome
SLOS
gene_symbol: ERMARD
disease_id: ORPHA:75857
disease_name: 6q terminal deletion syndrome
gene_symbol: CLP1
disease_id: OMIM:615803
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 10
gene_symbol: KIF26A
disease_id: OMIM:620156
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 11
gene_symbol: COG1
disease_id: OMIM:611209
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg
gene_symbol: COG1
disease_id: ORPHA:263508
disease_name: COG1-CDG
CDG syndrome type IIg
CDG-IIg
CDG2G
Carbohydrate deficient glycoprotein syndrome type IIg
Congenital disorder of glycosylation type 2g
Congenital disorder of glycosylation type IIg
gene_symbol: COG1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CHRNG
disease_id: OMIM:265000
disease_name: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
gene_symbol: PIGY
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGY
disease_id: OMIM:616809
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6
gene_symbol: PIGO
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PGAP3
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGW
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PGAP2
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGV
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGV
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PIGL
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: AFF3
disease_id: OMIM:619297
disease_name: KINSSHIP SYNDROME
gene_symbol: AFF3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MEGF8
disease_id: OMIM:614976
disease_name: CARPENTER SYNDROME 2
gene_symbol: MEGF8
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TCTN2
disease_id: OMIM:613885
disease_name: MECKEL SYNDROME, TYPE 8
gene_symbol: TCTN2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ALG8
disease_id: OMIM:608104
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih
gene_symbol: KCNH1
disease_id: ORPHA:3473
disease_name: Zimmermann-Laband syndrome
Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome
Laband syndrome
gene_symbol: KCNN3
disease_id: ORPHA:3473
disease_name: Zimmermann-Laband syndrome
Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome
Laband syndrome
gene_symbol: IDUA
disease_id: OMIM:607014
disease_name: HURLER SYNDROME
gene_symbol: IDUA
disease_id: OMIM:607016
disease_name: SCHEIE SYNDROME
gene_symbol: IDUA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IDUA
disease_id: ORPHA:93473
disease_name: Hurler syndrome
Hurler disease
MPS1H
MPSIH
Mucopolysaccharidosis type 1H
Mucopolysaccharidosis type IH
gene_symbol: TBX6
disease_id: OMIM:122600
disease_name: SPONDYLOCOSTAL DYSOSTOSIS 5
gene_symbol: TBX6
disease_id: ORPHA:2311
disease_name: Autosomal recessive spondylocostal dysostosis
Jarcho-Levin syndrome
gene_symbol: TBX6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TBX6
disease_id: ORPHA:1797
disease_name: Autosomal dominant spondylocostal dysostosis
Autosomal dominant spondylocostal dysplasia
gene_symbol: KIF7
disease_id: OMIM:607131
disease_name: AL-GAZALI-BAKALINOVA SYNDROME
gene_symbol: KIF7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME
gene_symbol: PHGDH
disease_id: OMIM:256520
disease_name: NEU-LAXOVA SYNDROME 1
gene_symbol: PHGDH
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HS2ST1
disease_id: OMIM:619194
disease_name: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS
gene_symbol: HS2ST1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GDF6
disease_id: OMIM:118100
disease_name: KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT
gene_symbol: GDF6
disease_id: ORPHA:2345
disease_name: Isolated Klippel-Feil syndrome
Congenital cervical vertebral fusion
Congenital fused cervical segments
Klippel-Feil malformation
Klippel-Feil sequence
gene_symbol: GDF6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MUSK
disease_id: OMIM:208150
disease_name: FETAL AKINESIA DEFORMATION SEQUENCE 1
gene_symbol: PROP1
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: PROP1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LHX4
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: LHX4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POU1F1
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: POU1F1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HESX1
disease_id: ORPHA:226307
disease_name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
gene_symbol: HESX1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DVL3
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: DVL3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
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: FZD2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: UNC80
disease_id: OMIM:616801
disease_name: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2
gene_symbol: TMCO1
disease_id: OMIM:213980
disease_name: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME
gene_symbol: TMCO1
disease_id: ORPHA:1394
disease_name: Cerebrofaciothoracic dysplasia
Pascual-Castroviejo syndrome type 1
gene_symbol: POLR3A
disease_id: OMIM:264090
disease_name: WIEDEMANN-RAUTENSTRAUCH SYNDROME
gene_symbol: POLR3A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
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: ESCO2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
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: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MAPK1
disease_id: OMIM:619087
disease_name: NOONAN SYNDROME 13
gene_symbol: MAPK1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DDX3X
disease_id: ORPHA:3338
disease_name: Toriello-Carey syndrome
Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome
gene_symbol: RTL1
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: DLK1
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: MEG3
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: LAMA5
disease_id: OMIM:620076
disease_name: BENT BONE DYSPLASIA SYNDROME 2
gene_symbol: LAMA5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MESP2
disease_id: OMIM:608681
disease_name: SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE
gene_symbol: MESP2
disease_id: OMIM:277300
disease_name: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE
gene_symbol: MESP2
disease_id: ORPHA:2311
disease_name: Autosomal recessive spondylocostal dysostosis
Jarcho-Levin syndrome
gene_symbol: MESP2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ATRX
disease_id: OMIM:309580
disease_name: MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1
gene_symbol: TNNT3
disease_id: ORPHA:1147
disease_name: Sheldon-Hall syndrome
DA2B
Distal arthrogryposis multiplex congenita type 2B
Distal arthrogryposis type 2B
Freeman-Sheldon syndrome variant
SSH
gene_symbol: TNNI2
disease_id: ORPHA:1147
disease_name: Sheldon-Hall syndrome
DA2B
Distal arthrogryposis multiplex congenita type 2B
Distal arthrogryposis type 2B
Freeman-Sheldon syndrome variant
SSH
gene_symbol: TBC1D7
disease_id: ORPHA:2477
disease_name: Megalencephaly
Macroencephaly
gene_symbol: SMS
disease_id: OMIM:309583
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE
gene_symbol: WAC
disease_id: OMIM:616708
disease_name: DESANTO-SHINAWI SYNDROME
gene_symbol: TRIP11
disease_id: ORPHA:93299
disease_name: Achondrogenesis type 1A
Achondrogenesis, Houston-Harris type
gene_symbol: TRIP11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TRIP11
disease_id: OMIM:200600
disease_name: ACHONDROGENESIS, TYPE IA
gene_symbol: EMD
disease_id: ORPHA:98863
disease_name: X-linked Emery-Dreifuss muscular dystrophy
gene_symbol: GNPTAB
disease_id: ORPHA:423461
disease_name: Mucolipidosis type III alpha/beta
ML 3 alpha/beta
ML III alpha/beta
Mucolipidosis type 3 alpha/beta
gene_symbol: GNPTAB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BUB1B
disease_id: OMIM:257300
disease_name: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1
gene_symbol: EBP
disease_id: OMIM:302960
disease_name: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT
gene_symbol: EBP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PTPN11
disease_id: OMIM:151100
disease_name: LEOPARD SYNDROME 1
gene_symbol: PTPN11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PTPN11
disease_id: OMIM:163950
disease_name: NOONAN SYNDROME 1
gene_symbol: ANKRD11
disease_id: OMIM:148050
disease_name: KBG SYNDROME
gene_symbol: ANKRD11
disease_id: ORPHA:2332
disease_name: KBG syndrome
ANKRD11-related disorder
Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome
gene_symbol: ANKRD11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
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: CBL
disease_id: OMIM:613563
disease_name: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
gene_symbol: CBL
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PAM16
disease_id: OMIM:613320
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE
gene_symbol: PAM16
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HES7
disease_id: OMIM:613686
disease_name: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
gene_symbol: HES7
disease_id: ORPHA:2311
disease_name: Autosomal recessive spondylocostal dysostosis
Jarcho-Levin syndrome
gene_symbol: HES7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GDF3
disease_id: ORPHA:2345
disease_name: Isolated Klippel-Feil syndrome
Congenital cervical vertebral fusion
Congenital fused cervical segments
Klippel-Feil malformation
Klippel-Feil sequence
gene_symbol: GDF3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MPL
disease_id: ORPHA:3319
disease_name: Congenital amegakaryocytic thrombocytopenia
CAMT
gene_symbol: THPO
disease_id: ORPHA:3319
disease_name: Congenital amegakaryocytic thrombocytopenia
CAMT
gene_symbol: THPO
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: INTU
disease_id: OMIM:617925
disease_name: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY
gene_symbol: INTU
disease_id: OMIM:617926
disease_name: OROFACIODIGITAL SYNDROME XVII
gene_symbol: INTU
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KNSTRN
disease_id: OMIM:613328
disease_name: ROIFMAN-CHITAYAT SYNDROME
gene_symbol: PIK3CD
disease_id: OMIM:613328
disease_name: ROIFMAN-CHITAYAT SYNDROME
gene_symbol: TALDO1
disease_id: OMIM:606003
disease_name: TRANSALDOLASE DEFICIENCY
gene_symbol: FGFR3
disease_id: OMIM:187600
disease_name: THANATOPHORIC DYSPLASIA, TYPE I
gene_symbol: FGFR3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ZC4H2
disease_id: OMIM:301041
disease_name: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED
gene_symbol: ZC4H2
disease_id: OMIM:314580
disease_name: WIEACKER-WOLFF SYNDROME
gene_symbol: ZC4H2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GPKOW
disease_id: ORPHA:2570
disease_name: Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
Morse-Rawnsley-Sargent syndrome
gene_symbol: NKX3-2
disease_id: OMIM:613330
disease_name: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA
gene_symbol: NKX3-2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RNU4ATAC
disease_id: OMIM:210710
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
gene_symbol: RNU4ATAC
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
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: FN1
disease_id: ORPHA:93315
disease_name: Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Sutcliffe type
gene_symbol: FN1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HDAC4
disease_id: ORPHA:1001
disease_name: 2q37 microdeletion syndrome
Albright hereditary osteodystrophy type 3
Albright hereditary osteodystrophy-like syndrome
Brachydactyly-intellectual disability syndrome
Del(2)(q37)
Deletion 2q37
Monosomy 2q37qter
gene_symbol: HDAC4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WNT4
disease_id: ORPHA:2578
disease_name: Mayer-Rokitansky-Küster-Hauser syndrome type 2
Atypical MRKH syndrome
MRKH syndrome type 2
MURCS association
Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome
gene_symbol: WNT4
disease_id: ORPHA:247768
disease_name: Müllerian aplasia and hyperandrogenism
Müllerian duct failure and hyperandrogenism
WNT4 deficiency
gene_symbol: HNF1B
disease_id: ORPHA:2578
disease_name: Mayer-Rokitansky-Küster-Hauser syndrome type 2
Atypical MRKH syndrome
MRKH syndrome type 2
MURCS association
Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome
gene_symbol: NOTCH3
disease_id: OMIM:130720
disease_name: LATERAL MENINGOCELE SYNDROME
gene_symbol: NOTCH3
disease_id: ORPHA:2789
disease_name: Lateral meningocele syndrome
Lehman syndrome
gene_symbol: ADAT3
disease_id: ORPHA:363528
disease_name: Intellectual disability-strabismus syndrome
gene_symbol: HSPA9
disease_id: OMIM:616854
disease_name: EVEN-PLUS SYNDROME
gene_symbol: HSPA9
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NRAS
disease_id: OMIM:613224
disease_name: NOONAN SYNDROME 6
gene_symbol: NRAS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RFT1
disease_id: OMIM:612015
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In
gene_symbol: MAPRE2
disease_id: OMIM:616734
disease_name: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2
gene_symbol: DLL3
disease_id: OMIM:277300
disease_name: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE
gene_symbol: DLL3
disease_id: ORPHA:2311
disease_name: Autosomal recessive spondylocostal dysostosis
Jarcho-Levin syndrome
gene_symbol: DLL3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MECP2
disease_id: OMIM:300055
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13
gene_symbol: ERCC2
disease_id: ORPHA:1466
disease_name: COFS syndrome
Cerebrooculofacioskeletal syndrome
Pena-Shokeir syndrome type 2
gene_symbol: ERCC1
disease_id: ORPHA:1466
disease_name: COFS syndrome
Cerebrooculofacioskeletal syndrome
Pena-Shokeir syndrome type 2
gene_symbol: ERCC6
disease_id: ORPHA:1466
disease_name: COFS syndrome
Cerebrooculofacioskeletal syndrome
Pena-Shokeir syndrome type 2
gene_symbol: ERCC5
disease_id: ORPHA:1466
disease_name: COFS syndrome
Cerebrooculofacioskeletal syndrome
Pena-Shokeir syndrome type 2
gene_symbol: RB1
disease_id: ORPHA:1587
disease_name: Monosomy 13q14 syndrome
Del(13)(q14)
Deletion 13q14
gene_symbol: NUP188
disease_id: OMIM:618804
disease_name: SANDESTIG-STEFANOVA SYNDROME
gene_symbol: RIPPLY2
disease_id: ORPHA:2311
disease_name: Autosomal recessive spondylocostal dysostosis
Jarcho-Levin syndrome
gene_symbol: RIPPLY2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LFNG
disease_id: ORPHA:2311
disease_name: Autosomal recessive spondylocostal dysostosis
Jarcho-Levin syndrome
gene_symbol: LFNG
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MAP2K2
disease_id: ORPHA:1340
disease_name: Cardiofaciocutaneous syndrome
CFC syndrome
gene_symbol: MAP2K2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TBCE
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MATN3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CCN6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CDKN1C
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RBM8A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ALG3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CHSY1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CA2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PTDSS1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC34A3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CDT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFT80
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RAC3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC25A24
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FERMT3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IKBKG
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC10A7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HOXD13
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NPPC
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BTRC
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DONSON
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DONSON
disease_id: OMIM:251230
disease_name: MICROCEPHALY-MICROMELIA SYNDROME
gene_symbol: NFIX
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GSC
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CCNQ
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EOGT
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TRPS1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MTAP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CLCN7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PKDCC
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PKDCC
disease_id: OMIM:618821
disease_name: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES
gene_symbol: TNFSF11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PEX5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SHH
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FUCA1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GNPAT
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FIG4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TAPT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TAPT1
disease_id: OMIM:616897
disease_name: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
gene_symbol: MMP9
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PPM1D
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TCOF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SP7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CILK1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RBPJ
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TTI2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NOTCH1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PDE3A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TNFRSF11A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IKBKB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DYNLT2B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLCO2A1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SETD2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SBDS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: AMER1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SOST
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TMEM67
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WDR19
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EZH2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PRKACB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IL2RG
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HYLS1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CSF1R
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KIAA0586
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KIAA0586
disease_id: OMIM:616546
disease_name: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY
gene_symbol: IFT43
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DYNC2H1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CREB3L1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TRPV6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DPM1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MYO18B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MYO18B
disease_id: OMIM:616549
disease_name: KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM
gene_symbol: OTX2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SPARC
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SPR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SEC24D
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DLX5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NAGLU
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LRP4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SEMA3A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ACVR1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: STAT5B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CYP2R1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFITM5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CCDC134
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ANO5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NSDHL
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CDC73
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ENPP1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TENT5A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FBXW4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PSMB1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: XRCC4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GH1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TMEM216
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RSPO2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HMGA2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FGF10
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WNT10B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PPP1R21
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COMP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TWIST1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SNX10
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DNA2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FGF23
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DLX3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TCIRG1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PRKACA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IARS2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EFTUD2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BMP1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PTH1R
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CC2D2A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EVC2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CFAP410
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: P4HB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FAM20B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NOG
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EDN1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PLOD2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ARCN1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: P3H1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SCARF2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ARID1B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IGF2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ARSL
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PNPLA6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GLI3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ERF
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PLAG1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PLEKHM1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CTSK
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC39A13
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MAP3K7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CPAP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SGMS2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: STAT3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GALNS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GALNS
disease_id: OMIM:253000
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IVA
gene_symbol: SOS2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SOS2
disease_id: OMIM:616559
disease_name: NOONAN SYNDROME 9
gene_symbol: SULF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ARSB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RPL10
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SH3BP2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MIR140
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KL
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TBXAS1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GINS2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GMNN
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MBTPS2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LRP5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ATR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TBX5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
gene_symbol: DHODH
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IGSF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DPCD
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PAPPA2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EIF4A3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL1A2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CLCN5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PLCB3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ACTB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ACTB
disease_id: OMIM:243310
disease_name: BARAITSER-WINTER SYNDROME 1
gene_symbol: ACTB
disease_id: ORPHA:2995
disease_name: Baraitser-Winter cerebrofrontofacial syndrome
gene_symbol: STIM1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ALX3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL27A1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HPGD
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POLR1D
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: APC2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DYNC2LI1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ZMPSTE24
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PYCR1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL1A1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL10A1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RPGRIP1L
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFT122
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RAD21
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RAD21
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: TREM2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EFL1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PTHLH
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PRKG2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ALPL
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LBX1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TMEM231
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ANKH
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLCO5A1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GNAI3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DYNC2I1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RALA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TONSL
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MET
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ARHGAP31
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POLR1A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PCNT
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RPL13
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LONP1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NSMCE2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PIK3R1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CKAP2L
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IGF1R
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NEK1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KDELR2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EXOSC5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TNFRSF11B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RNPC3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CRIPT
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KYNU
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PPIB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ADAMTS10
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PHEX
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SUMF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IHH
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ALX4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GALNT3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SMARCA4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TAB2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SFRP4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NEU1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MYCN
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LEMD3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ORC4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: OFD1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COG4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GHRHR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PITX2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: AGA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CHST11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FGF8
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RUNX2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TRIM37
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HOXA11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POC1A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PDE4D
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HAAO
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TRAF3IP1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SPECC1L
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ALMS1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ADAMTSL2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PRKAR1A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TCF12
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PITX1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CTSA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DPF2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PPP1CB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PPP1CB
disease_id: OMIM:617506
disease_name: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
gene_symbol: CENPE
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SH3PXD2B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LTBP1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SALL1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: UFSP2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: VDR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MANBA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POLR1C
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MNX1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ZSWIM6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HOXA13
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFT52
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CDH3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SMOC2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NMNAT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PISD
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FUZ
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SRP54
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: OSTM1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ALX1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LPIN2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SCUBE3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KCNJ2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DNAJC21
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COLEC11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CEP120
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFT81
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PAX3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EDNRA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LBR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MECOM
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: AGPS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MRAS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ADAMTS17
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KMT2A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FMN1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: H19
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: VAC14
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PEX7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CRTAP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PAPSS2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFIH1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SNRPB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC17A5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MSX2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FGF9
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ID4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BTK
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MGP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FBLN1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FAR1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PEX6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC35C1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TGFB1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CPLANE1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SGSH
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TMEM38B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NIN
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DLL4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GJA1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PLK4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CDC45
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GPR161
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BHLHA9
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SERPINF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GHR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EVC
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MESD
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ALG12
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ORC1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PROKR2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DYNC2I2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BPNT2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CASR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RBBP8
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POLL
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WNT6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ORC6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SOX2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LRRK1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EIF2AK3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SMARCB1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IGFALS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TYROBP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ZBTB16
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GHSR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CDC42
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IDH2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WNT3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DMP1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MAP3K20
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SOX3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TCTN3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SERPINH1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SMARCE1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BMPR1B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HGSNAT
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RRAS2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CEP152
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MMP13
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FKBP10
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TBX4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PCYT1A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RECQL4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MMP14
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FAM111A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DLX6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TBX3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EXT2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LTBP2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ATP6V0A2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TMEM165
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RIGI
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LYSET
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NADSYN1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TRAIP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TTC21B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CEP63
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POLR3B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LMBR1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GCM2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LMNA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RAB33B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RAB33B
disease_id: OMIM:615222
disease_name: SMITH-MCCORT DYSPLASIA 2
gene_symbol: SPINK5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NLRP3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ACP5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IGF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DOCK6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MCM5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MMP2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC29A3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PLS3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KIAA0753
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NSD2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CYP26B1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RRAS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KAT6B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BMP2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CDC6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RASGRP2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GDF5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EXT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GALNT2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TP63
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CYP27B1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DNMT3A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WNT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IL1RN
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MSL3
disease_id: OMIM:301032
disease_name: BASILICATA-AKHTAR SYNDROME
gene_symbol: PSMD12
disease_id: ORPHA:529962
disease_name: 17q24.2 microdeletion syndrome
Del(17)(q24)
gene_symbol: BPTF
disease_id: ORPHA:529962
disease_name: 17q24.2 microdeletion syndrome
Del(17)(q24)
gene_symbol: COG8
disease_id: OMIM:611182
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh
gene_symbol: RAB5IF
disease_id: OMIM:616994
disease_name: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
gene_symbol: SNRPN
disease_id: ORPHA:177907
disease_name: Prader-Willi syndrome due to translocation
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: BRD4
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: ACTG1
disease_id: OMIM:614583
disease_name: BARAITSER-WINTER SYNDROME 2
gene_symbol: ACTG1
disease_id: ORPHA:2995
disease_name: Baraitser-Winter cerebrofrontofacial syndrome
gene_symbol: MICU1
disease_id: OMIM:615673
disease_name: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS
gene_symbol: TOR1A
disease_id: OMIM:618947
disease_name: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5
gene_symbol: MRPL12
disease_id: OMIM:618951
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45
gene_symbol: DPYD
disease_id: ORPHA:1675
disease_name: Dihydropyrimidine dehydrogenase deficiency
Familial pyrimidinemia
gene_symbol: MRPS28
disease_id: OMIM:618958
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47
gene_symbol: CD96
disease_id: ORPHA:1308
disease_name: C syndrome
OTCS
Opitz C trigonocephaly
Opitz trigonocephaly C syndrome
Opitz trigonocephaly syndrome
Trigonocephaly C syndrome
gene_symbol: NLRP1
disease_id: OMIM:615225
disease_name: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING
gene_symbol: ROBO3
disease_id: ORPHA:2744
disease_name: Horizontal gaze palsy with progressive scoliosis
HGPPS
Progressive external ophthalmoplegia and scoliosis
gene_symbol: DCC
disease_id: ORPHA:2744
disease_name: Horizontal gaze palsy with progressive scoliosis
HGPPS
Progressive external ophthalmoplegia and scoliosis
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: SF3B4
disease_id: OMIM:154400
disease_name: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE
gene_symbol: CTDP1
disease_id: ORPHA:48431
disease_name: Congenital cataracts-facial dysmorphism-neuropathy syndrome
CCFDN
gene_symbol: CHST14
disease_id: ORPHA:2953
disease_name: Musculocontractural Ehlers-Danlos syndrome
Adducted thumb-clubfoot syndrome
Distal arthrogryposis with peculiar facies and hydronephrosis
Dündar syndrome
Ehlers-Danlos syndrome, Kosho type
Musculocontractural EDS
mcEDS
gene_symbol: DSE
disease_id: ORPHA:2953
disease_name: Musculocontractural Ehlers-Danlos syndrome
Adducted thumb-clubfoot syndrome
Distal arthrogryposis with peculiar facies and hydronephrosis
Dündar syndrome
Ehlers-Danlos syndrome, Kosho type
Musculocontractural EDS
mcEDS
gene_symbol: CREBBP
disease_id: ORPHA:353277
disease_name: Rubinstein-Taybi syndrome due to CREBBP mutations
gene_symbol: CREBBP
disease_id: ORPHA:353281
disease_name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
gene_symbol: FGFR2
disease_id: OMIM:123500
disease_name: CROUZON SYNDROME
gene_symbol: DYRK1A
disease_id: ORPHA:464311
disease_name: Intellectual disability syndrome due to a DYRK1A point mutation
DYRK1A-related intellectual disability syndrome due to a point mutation
gene_symbol: FLNB
disease_id: ORPHA:503
disease_name: Larsen syndrome
gene_symbol: STAT4
disease_id: ORPHA:85408
disease_name: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Juvenile polyarthritis without rheumatoid factor
Juvenile rheumatoid factor-negative polyarthritis
Rheumatoid factor-negative polyarticular JIA
gene_symbol: IL2RB
disease_id: ORPHA:85408
disease_name: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Juvenile polyarthritis without rheumatoid factor
Juvenile rheumatoid factor-negative polyarthritis
Rheumatoid factor-negative polyarticular JIA
gene_symbol: ANKRD55
disease_id: ORPHA:85408
disease_name: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Juvenile polyarthritis without rheumatoid factor
Juvenile rheumatoid factor-negative polyarthritis
Rheumatoid factor-negative polyarticular JIA
gene_symbol: PTPN22
disease_id: ORPHA:85408
disease_name: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Juvenile polyarthritis without rheumatoid factor
Juvenile rheumatoid factor-negative polyarthritis
Rheumatoid factor-negative polyarticular JIA
gene_symbol: CD247
disease_id: ORPHA:85408
disease_name: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Juvenile polyarthritis without rheumatoid factor
Juvenile rheumatoid factor-negative polyarthritis
Rheumatoid factor-negative polyarticular JIA
gene_symbol: IL2RA
disease_id: ORPHA:85408
disease_name: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Juvenile polyarthritis without rheumatoid factor
Juvenile rheumatoid factor-negative polyarthritis
Rheumatoid factor-negative polyarticular JIA
gene_symbol: PTPN2
disease_id: ORPHA:85408
disease_name: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Juvenile polyarthritis without rheumatoid factor
Juvenile rheumatoid factor-negative polyarthritis
Rheumatoid factor-negative polyarticular JIA
gene_symbol: AP5Z1
disease_id: ORPHA:306511
disease_name: Autosomal recessive spastic paraplegia type 48
SPG48
gene_symbol: CDH11
disease_id: ORPHA:1299
disease_name: Branchioskeletogenital syndrome
BSG syndrome
Elsahy-Waters syndrome
gene_symbol: PLCB4
disease_id: OMIM:620458
disease_name: AURICULOCONDYLAR SYNDROME 2B
gene_symbol: FGD1
disease_id: ORPHA:915
disease_name: Aarskog-Scott syndrome
Aarskog syndrome
Faciodigitogenital syndrome
Faciogenital dysplasia
gene_symbol: EP300
disease_id: ORPHA:353284
disease_name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
gene_symbol: DHX37
disease_id: OMIM:618731
disease_name: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES
gene_symbol: GMPPB
disease_id: ORPHA:370968
disease_name: Congenital muscular dystrophy with intellectual disability
CMD with intellectual disability
CMD-MR
gene_symbol: FKRP
disease_id: ORPHA:370968
disease_name: Congenital muscular dystrophy with intellectual disability
CMD with intellectual disability
CMD-MR
gene_symbol: POMT2
disease_id: ORPHA:370968
disease_name: Congenital muscular dystrophy with intellectual disability
CMD with intellectual disability
CMD-MR
gene_symbol: LARGE1
disease_id: ORPHA:370968
disease_name: Congenital muscular dystrophy with intellectual disability
CMD with intellectual disability
CMD-MR
gene_symbol: POMT1
disease_id: ORPHA:370968
disease_name: Congenital muscular dystrophy with intellectual disability
CMD with intellectual disability
CMD-MR
gene_symbol: FOXA2
disease_id: ORPHA:95494
disease_name: Combined pituitary hormone deficiencies, genetic forms
Familial congenital hypopituitarism
Multiple pituitary hormone deficiencies, genetic forms
gene_symbol: CHRNA1
disease_id: OMIM:253290
disease_name: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
gene_symbol: CHRND
disease_id: OMIM:253290
disease_name: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
gene_symbol: SLC35B2
disease_id: OMIM:620269
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA
gene_symbol: HTRA1
disease_id: ORPHA:199354
disease_name: Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
CARASIL
Maeda syndrome