Phenotype: Aplasia/hypoplasia involving bones of the extremities (HP:0045060)
Associated genes and diseases:
gene_symbol: ALDH18A1
disease_id: OMIM:601162
disease_name: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT
gene_symbol: SMC1A
disease_id: OMIM:300590
disease_name: CORNELIA DE LANGE SYNDROME 2
gene_symbol: SMC1A
disease_id: OMIM:301044
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
gene_symbol: SMC1A
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: SMC1A
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: SPART
disease_id: OMIM:275900
disease_name: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE
gene_symbol: CUL4B
disease_id: OMIM:300354
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE
gene_symbol: CUL4B
disease_id: ORPHA:85293
disease_name: X-linked intellectual disability, Cabezas type
Cabezas syndrome
gene_symbol: FGD1
disease_id: OMIM:305400
disease_name: AARSKOG-SCOTT SYNDROME
gene_symbol: FGD1
disease_id: ORPHA:915
disease_name: Aarskog-Scott syndrome
Aarskog syndrome
Faciodigitogenital syndrome
Faciogenital dysplasia
gene_symbol: FBXL4
disease_id: OMIM:615471
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
gene_symbol: CHSY1
disease_id: ORPHA:363417
disease_name: Temtamy preaxial brachydactyly syndrome
gene_symbol: WDR81
disease_id: OMIM:610185
disease_name: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2
gene_symbol: MASP1
disease_id: OMIM:257920
disease_name: 3MC SYNDROME 1
gene_symbol: SATB2
disease_id: ORPHA:251028
disease_name: SATB2-associated syndrome due to a chromosomal rearrangement
2q33.1 microdeletion syndrome
Del(2)(q33.1)
Monosomy 2q33.1
gene_symbol: SATB2
disease_id: ORPHA:576283
disease_name: SATB2-associated syndrome due to a pathogenic variant
SATB2-associated syndrome due to a point mutation
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: ASCC3
disease_id: OMIM:620700
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81
gene_symbol: B3GLCT
disease_id: ORPHA:709
disease_name: Peters plus syndrome
Krause-Kivlin syndrome
Krause-van Schooneveld-Kivlin syndrome
Peters anomaly with short limb dwarfism
gene_symbol: B3GLCT
disease_id: OMIM:261540
disease_name: PETERS-PLUS SYNDROME
gene_symbol: ERI1
disease_id: OMIM:620663
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE
gene_symbol: BMP2
disease_id: ORPHA:93396
disease_name: Brachydactyly type A2
Brachydactyly, Mohr-Wriedt type
gene_symbol: SNORD116-1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: HERC2
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: NPAP1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: SNORD115-1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: MAGEL2
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: MAGEL2
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: MAGEL2
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: MAGEL2
disease_id: ORPHA:398069
disease_name: Schaaf-Yang syndrome
SYS
gene_symbol: MAGEL2
disease_id: ORPHA:177910
disease_name: Prader-Willi syndrome due to imprinting mutation
gene_symbol: MAGEL2
disease_id: OMIM:615547
disease_name: SCHAAF-YANG SYNDROME
gene_symbol: MAGEL2
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: MKRN3
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: PWAR1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: IPW
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: PWRN1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: CDKL5
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: CDKL5
disease_id: OMIM:300672
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2
gene_symbol: NTNG1
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: GABBR2
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: GABBR2
disease_id: OMIM:617903
disease_name: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS
gene_symbol: MECP2
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: MECP2
disease_id: OMIM:300260
disease_name: LUBS X-LINKED MENTAL RETARDATION SYNDROME
gene_symbol: MECP2
disease_id: OMIM:312750
disease_name: RETT SYNDROME
gene_symbol: HDAC8
disease_id: OMIM:300882
disease_name: CORNELIA DE LANGE SYNDROME 5
gene_symbol: HDAC8
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: HDAC8
disease_id: ORPHA:3459
disease_name: Wilson-Turner syndrome
WTS
X-linked intellectual disability-gynecomastia-obesity syndrome
gene_symbol: DYNC2I1
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: DYNC2I1
disease_id: ORPHA:474
disease_name: Jeune syndrome
Asphyxiating thoracic dystrophy of the newborn
JATD
Jeune asphyxiating thoracic dystrophy
gene_symbol: IFT80
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: IFT80
disease_id: ORPHA:474
disease_name: Jeune syndrome
Asphyxiating thoracic dystrophy of the newborn
JATD
Jeune asphyxiating thoracic dystrophy
gene_symbol: IFT80
disease_id: OMIM:611263
disease_name: SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY
gene_symbol: WDR35
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: DYNC2I2
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: DYNC2I2
disease_id: ORPHA:474
disease_name: Jeune syndrome
Asphyxiating thoracic dystrophy of the newborn
JATD
Jeune asphyxiating thoracic dystrophy
gene_symbol: CENPE
disease_id: OMIM:616051
disease_name: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: SON
disease_id: OMIM:617140
disease_name: ZTTK SYNDROME
gene_symbol: KDM4B
disease_id: OMIM:619320
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65
gene_symbol: TBCE
disease_id: ORPHA:2323
disease_name: Sanjad-Sakati syndrome
HRD syndrome
Hypoparathyroidism-intellectual disability-dysmorphism syndrome
Hypoparathyroidism-short stature-intellectual disability-seizures syndrome
Richardson-Kirk syndrome
SSS
gene_symbol: TBCE
disease_id: OMIM:241410
disease_name: HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME
gene_symbol: TBCE
disease_id: OMIM:244460
disease_name: KENNY-CAFFEY SYNDROME, TYPE 1
gene_symbol: TBCE
disease_id: ORPHA:93324
disease_name: Autosomal recessive Kenny-Caffey syndrome
gene_symbol: SIM1
disease_id: ORPHA:398079
disease_name: SIM1-related Prader-Willi-like syndrome
SIM1-related PWLS
gene_symbol: COG1
disease_id: OMIM:611209
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg
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: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: MBD5
disease_id: OMIM:156200
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1
gene_symbol: SNRPN
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: SNRPN
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: SNRPN
disease_id: ORPHA:177910
disease_name: Prader-Willi syndrome due to imprinting mutation
gene_symbol: SNRPN
disease_id: ORPHA:177907
disease_name: Prader-Willi syndrome due to translocation
gene_symbol: SNRPN
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: NDN
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: NDN
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: NDN
disease_id: ORPHA:177910
disease_name: Prader-Willi syndrome due to imprinting mutation
gene_symbol: NDN
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: OCA2
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: OCA2
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: OCA2
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: FGFR2
disease_id: ORPHA:93260
disease_name: Pfeiffer syndrome type 3
gene_symbol: FGFR2
disease_id: ORPHA:93258
disease_name: Pfeiffer syndrome type 1
Classic Pfeiffer syndrome
gene_symbol: FGFR2
disease_id: ORPHA:93259
disease_name: Pfeiffer syndrome type 2
gene_symbol: GALNT2
disease_id: OMIM:618885
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt
gene_symbol: CAMK2G
disease_id: OMIM:618522
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59
gene_symbol: FBXO11
disease_id: OMIM:618089
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
gene_symbol: DYNC1H1
disease_id: OMIM:614563
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
gene_symbol: HTT
disease_id: OMIM:617435
disease_name: LOPES-MACIEL-RODAN SYNDROME
gene_symbol: TUBB3
disease_id: ORPHA:300570
disease_name: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
gene_symbol: ARL6
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: CCDC28B
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: BBS1
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: KCNJ2
disease_id: OMIM:170390
disease_name: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
gene_symbol: KCNJ2
disease_id: ORPHA:37553
disease_name: Andersen-Tawil syndrome
Andersen syndrome
LQT7
Long QT syndrome type 7
gene_symbol: FGFR1
disease_id: ORPHA:93258
disease_name: Pfeiffer syndrome type 1
Classic Pfeiffer syndrome
gene_symbol: FGFR1
disease_id: OMIM:166250
disease_name: OSTEOGLOPHONIC DYSPLASIA
gene_symbol: RNF2
disease_id: OMIM:619460
disease_name: LUO-SCHOCH-YAMAMOTO SYNDROME
gene_symbol: UBE2A
disease_id: OMIM:300860
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE
gene_symbol: UBE2A
disease_id: ORPHA:163956
disease_name: X-linked intellectual disability, Nascimento type
X-linked intellectual disability-nail dystrophy-seizures syndrome
gene_symbol: MSL3
disease_id: OMIM:301032
disease_name: BASILICATA-AKHTAR SYNDROME
gene_symbol: CERT1
disease_id: OMIM:616351
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34
gene_symbol: BGN
disease_id: OMIM:300106
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED
gene_symbol: MAP3K7
disease_id: OMIM:157800
disease_name: CARDIOSPONDYLOCARPOFACIAL SYNDROME
gene_symbol: RMRP
disease_id: OMIM:607095
disease_name: ANAUXETIC DYSPLASIA 1
gene_symbol: SATB1
disease_id: OMIM:619229
disease_name: KOHLSCHUTTER-TONZ SYNDROME-LIKE
gene_symbol: SIN3A
disease_id: OMIM:613406
disease_name: WITTEVEEN-KOLK SYNDROME
gene_symbol: PIGL
disease_id: ORPHA:3474
disease_name: CHIME syndrome
Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome
Congenital disorder of glycosylation due to PIGL deficiency
Neuroectodermal dysplasia, CHIME type
Neuroectodermal syndrome, Zunich type
PIGL-CDG
Zunich-Kaye syndrome
gene_symbol: GJA1
disease_id: OMIM:257850
disease_name: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME
gene_symbol: BRD4
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: NIPBL
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: NIPBL
disease_id: OMIM:122470
disease_name: CORNELIA DE LANGE SYNDROME 1
gene_symbol: RAD21
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: KIAA0753
disease_id: ORPHA:474
disease_name: Jeune syndrome
Asphyxiating thoracic dystrophy of the newborn
JATD
Jeune asphyxiating thoracic dystrophy
gene_symbol: IFT172
disease_id: ORPHA:474
disease_name: Jeune syndrome
Asphyxiating thoracic dystrophy of the newborn
JATD
Jeune asphyxiating thoracic dystrophy
gene_symbol: DYNC2LI1
disease_id: ORPHA:474
disease_name: Jeune syndrome
Asphyxiating thoracic dystrophy of the newborn
JATD
Jeune asphyxiating thoracic dystrophy
gene_symbol: IFT140
disease_id: ORPHA:474
disease_name: Jeune syndrome
Asphyxiating thoracic dystrophy of the newborn
JATD
Jeune asphyxiating thoracic dystrophy
gene_symbol: WDR19
disease_id: ORPHA:474
disease_name: Jeune syndrome
Asphyxiating thoracic dystrophy of the newborn
JATD
Jeune asphyxiating thoracic dystrophy
gene_symbol: WDR19
disease_id: OMIM:614376
disease_name: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
gene_symbol: TTC21B
disease_id: ORPHA:474
disease_name: Jeune syndrome
Asphyxiating thoracic dystrophy of the newborn
JATD
Jeune asphyxiating thoracic dystrophy
gene_symbol: LIG4
disease_id: ORPHA:235
disease_name: Dubowitz syndrome
gene_symbol: NSUN2
disease_id: ORPHA:235
disease_name: Dubowitz syndrome
gene_symbol: NGLY1
disease_id: OMIM:615273
disease_name: CONGENITAL DISORDER OF DEGLYCOSYLATION
gene_symbol: USP7
disease_id: ORPHA:500055
disease_name: Hao-Fountain syndrome due to 16p13.2 microdeletion
Chromosome 16p13.2 deletion syndrome
Del(16)(p13.2)
Monosomy 16p13.2
gene_symbol: PPM1D
disease_id: OMIM:617450
disease_name: JANSEN-DE VRIES SYNDROME
gene_symbol: CCDC47
disease_id: OMIM:618268
disease_name: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME
gene_symbol: FBN1
disease_id: OMIM:614185
disease_name: GELEOPHYSIC DYSPLASIA 2
gene_symbol: FBN1
disease_id: ORPHA:2623
disease_name: Geleophysic dysplasia
Geleophysic dwarfism
gene_symbol: FBN1
disease_id: OMIM:102370
disease_name: ACROMICRIC DYSPLASIA
gene_symbol: USP9X
disease_id: ORPHA:480880
disease_name: X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females
gene_symbol: USP9X
disease_id: OMIM:300968
disease_name: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED
gene_symbol: TELO2
disease_id: ORPHA:488642
disease_name: TELO2-related intellectual disability-neurodevelopmental disorder
You-Hoover-Fong syndrome
gene_symbol: HDAC6
disease_id: ORPHA:163966
disease_name: X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome
gene_symbol: WDR26
disease_id: OMIM:617616
disease_name: SKRABAN-DEARDORFF SYNDROME
gene_symbol: H4C3
disease_id: OMIM:619758
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1
gene_symbol: PRKCZ
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: GABRD
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: SPEN
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: MMP23B
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: LUZP1
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: SKI
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: PDPN
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: HSPG2
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: UBE4B
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: KCNAB2
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: RERE
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: PRDM16
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: CASZ1
disease_id: ORPHA:1606
disease_name: 1p36 deletion syndrome
Del(1)(p36)
Deletion 1p36
Deletion 1pter
Monosomy 1p36
Monosomy 1pter
Subtelomeric 1p36 deletion
gene_symbol: ADAMTSL2
disease_id: OMIM:231050
disease_name: GELEOPHYSIC DYSPLASIA 1
gene_symbol: ADAMTSL2
disease_id: ORPHA:2623
disease_name: Geleophysic dysplasia
Geleophysic dwarfism
gene_symbol: TONSL
disease_id: ORPHA:93357
disease_name: SPONASTRIME dysplasia
Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia
Spondyloepimetaphyseal dysplasia, Sponastrime type
gene_symbol: 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: SLC35C1
disease_id: OMIM:266265
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc
gene_symbol: HNRNPR
disease_id: OMIM:620073
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES
gene_symbol: TBL1XR1
disease_id: OMIM:602342
disease_name: PIERPONT 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: SMAD4
disease_id: OMIM:139210
disease_name: MYHRE SYNDROME
gene_symbol: ZMYM2
disease_id: OMIM:619522
disease_name: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES
gene_symbol: KIF5C
disease_id: OMIM:615282
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
gene_symbol: PDGFRB
disease_id: OMIM:601812
disease_name: PREMATURE AGING SYNDROME, PENTTINEN TYPE
gene_symbol: BPNT2
disease_id: OMIM:614078
disease_name: CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE
gene_symbol: LAS1L
disease_id: ORPHA:3459
disease_name: Wilson-Turner syndrome
WTS
X-linked intellectual disability-gynecomastia-obesity syndrome
gene_symbol: LAS1L
disease_id: OMIM:309585
disease_name: WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME
gene_symbol: GPC4
disease_id: ORPHA:373
disease_name: Simpson-Golabi-Behmel syndrome
DGSX
Golabi-Rosen syndrome
SDYS
SGBS
SGBS1
Simpson dysmorphia syndrome
Simpson-Golabi-Behmel syndrome type 1
X-linked dysplasia gigantism syndrome
gene_symbol: GPC4
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: GPC3
disease_id: ORPHA:373
disease_name: Simpson-Golabi-Behmel syndrome
DGSX
Golabi-Rosen syndrome
SDYS
SGBS
SGBS1
Simpson dysmorphia syndrome
Simpson-Golabi-Behmel syndrome type 1
X-linked dysplasia gigantism syndrome
gene_symbol: GPC3
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: KDM5C
disease_id: OMIM:300534
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
gene_symbol: MAPK8IP3
disease_id: OMIM:618443
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES
gene_symbol: FMR1
disease_id: ORPHA:261483
disease_name: Xq27.3q28 duplication syndrome
Dup(X)(q27.3q28)
Trisomy Xq27.3-q28
Trisomy Xq27.3q28
Xq27.3-q28 microduplication syndrome
gene_symbol: TRIP11
disease_id: ORPHA:93299
disease_name: Achondrogenesis type 1A
Achondrogenesis, Houston-Harris type
gene_symbol: CCBE1
disease_id: OMIM:235510
disease_name: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1
gene_symbol: FAM50A
disease_id: OMIM:300261
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, ARMFIELD TYPE
gene_symbol: CTSK
disease_id: ORPHA:763
disease_name: Pycnodysostosis
Pyknodysostosis
gene_symbol: TRRAP
disease_id: OMIM:618454
disease_name: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
gene_symbol: LTBP3
disease_id: ORPHA:2623
disease_name: Geleophysic dysplasia
Geleophysic dwarfism
gene_symbol: LTBP3
disease_id: OMIM:617809
disease_name: GELEOPHYSIC DYSPLASIA 3
gene_symbol: TRPS1
disease_id: OMIM:190351
disease_name: TRICHORHINOPHALANGEAL SYNDROME, TYPE III
gene_symbol: POC1A
disease_id: OMIM:614813
disease_name: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS
gene_symbol: CRELD1
disease_id: OMIM:620771
disease_name: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME
gene_symbol: IGF1R
disease_id: OMIM:270450
disease_name: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO
gene_symbol: KCNJ5
disease_id: ORPHA:37553
disease_name: Andersen-Tawil syndrome
Andersen syndrome
LQT7
Long QT syndrome type 7
gene_symbol: CHD6
disease_id: ORPHA:2108
disease_name: Hallermann-Streiff syndrome
François dyscephalic syndrome
Oculomandibulofacial syndrome
gene_symbol: COL3A1
disease_id: ORPHA:2500
disease_name: Acrogeria
Acrogeria, Gottron type
Acrometageria
Gottron syndrome
gene_symbol: HUWE1
disease_id: OMIM:309590
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE
gene_symbol: ALOXE3
disease_id: OMIM:242100
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2
gene_symbol: ALOX12B
disease_id: OMIM:242100
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2
gene_symbol: ALMS1
disease_id: ORPHA:64
disease_name: Alström syndrome
gene_symbol: PSMB10
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: RAG1
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: RAG2
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: DCLRE1C
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: ADA
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: IL7R
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: IL2RG
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: DNMT3A
disease_id: ORPHA:404443
disease_name: Tatton-Brown-Rahman syndrome
DNMT3A-related overgrowth syndrome
Tatton-Brown-Rahman overgrowth syndrome
gene_symbol: HEATR3
disease_id: OMIM:620072
disease_name: DIAMOND-BLACKFAN ANEMIA 21
gene_symbol: GRIP1
disease_id: OMIM:617667
disease_name: FRASER SYNDROME 3
gene_symbol: PIGV
disease_id: OMIM:239300
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1
gene_symbol: ASAH1
disease_id: ORPHA:333
disease_name: Farber disease
Acid ceramidase deficiency
Farber lipogranulomatosis
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: PHF6
disease_id: OMIM:301900
disease_name: BORJESON-FORSSMAN-LEHMANN SYNDROME
gene_symbol: PHF6
disease_id: ORPHA:127
disease_name: Borjeson-Forssman-Lehmann syndrome
BFLS
Intellectual disability-epilepsy-endocrine disorders syndrome
gene_symbol: OFD1
disease_id: ORPHA:2750
disease_name: Orofaciodigital syndrome type 1
OFD1
OFDI
OFDSI
Oral-facial-digital syndrome type 1
Papillon-Léage-Psaume syndrome
gene_symbol: TBX22
disease_id: ORPHA:921
disease_name: Abruzzo-Erickson syndrome
CHARGE-like syndrome
Cleft palate-coloboma-deafness syndrome
Cleft palate-coloboma-hearing loss syndrome
gene_symbol: ASXL1
disease_id: OMIM:605039
disease_name: BOHRING-OPITZ SYNDROME
gene_symbol: VAC14
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: ADAMTS2
disease_id: OMIM:225410
disease_name: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
gene_symbol: MIA3
disease_id: OMIM:619269
disease_name: ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES
gene_symbol: ZMIZ1
disease_id: OMIM:618659
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
gene_symbol: MYCN
disease_id: OMIM:164280
disease_name: FEINGOLD SYNDROME 1
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: 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: GHR
disease_id: ORPHA:633
disease_name: Laron syndrome
Complete growth hormone insensitivity
GH receptor deficiency
Growth hormone receptor deficiency
Laron-type dwarfism
Primary GH insensitivity
Primary GH resistance
Primary growth hormone insensitivity
Primary growth hormone resistance
Short stature due to growth hormone resistance
gene_symbol: PIGF
disease_id: OMIM:619356
disease_name: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME
gene_symbol: KCNH1
disease_id: OMIM:135500
disease_name: ZIMMERMANN-LABAND SYNDROME 1
gene_symbol: COX4I1
disease_id: OMIM:619060
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16
gene_symbol: C12orf57
disease_id: OMIM:218340
disease_name: TEMTAMY SYNDROME
gene_symbol: TP63
disease_id: OMIM:605289
disease_name: SPLIT-HAND/FOOT MALFORMATION 4
gene_symbol: RPS19
disease_id: OMIM:105650
disease_name: DIAMOND-BLACKFAN ANEMIA 1
gene_symbol: RBM10
disease_id: OMIM:311900
disease_name: TARP SYNDROME
gene_symbol: AMER1
disease_id: OMIM:300373
disease_name: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
gene_symbol: FLNA
disease_id: ORPHA:90652
disease_name: Otopalatodigital syndrome type 2
OPD II syndrome
OPD syndrome 2
gene_symbol: JAG1
disease_id: OMIM:118450
disease_name: ALAGILLE SYNDROME 1
gene_symbol: APC
disease_id: ORPHA:3258
disease_name: Cenani-Lenz syndrome
Cenani syndactyly
Cenani-Lenz syndactyly
Syndactyly type 7
gene_symbol: B2M
disease_id: OMIM:241600
disease_name: IMMUNODEFICIENCY 43
gene_symbol: FZD2
disease_id: OMIM:164745
disease_name: OMODYSPLASIA 2
gene_symbol: AFF3
disease_id: OMIM:619297
disease_name: KINSSHIP SYNDROME
gene_symbol: INPPL1
disease_id: ORPHA:3144
disease_name: Schneckenbecken dysplasia
Chondrodysplasia with snail-like pelvis
SLC35D1-CDG
gene_symbol: SLC35D1
disease_id: ORPHA:3144
disease_name: Schneckenbecken dysplasia
Chondrodysplasia with snail-like pelvis
SLC35D1-CDG
gene_symbol: IFT122
disease_id: OMIM:218330
disease_name: CRANIOECTODERMAL DYSPLASIA 1
gene_symbol: SF3B4
disease_id: ORPHA:1788
disease_name: Acrofacial dysostosis, Rodríguez type
gene_symbol: PTH1R
disease_id: ORPHA:79106
disease_name: Eiken syndrome
gene_symbol: PTH1R
disease_id: OMIM:600002
disease_name: EIKEN SYNDROME
gene_symbol: AFF4
disease_id: ORPHA:444077
disease_name: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
CHOPS syndrome
gene_symbol: SOX9
disease_id: ORPHA:140
disease_name: Campomelic dysplasia
Campomelic dwarfism
gene_symbol: SOX9
disease_id: OMIM:114290
disease_name: CAMPOMELIC DYSPLASIA
gene_symbol: MET
disease_id: OMIM:607278
disease_name: OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO
gene_symbol: GJB6
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: GJB2
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: LMX1B
disease_id: ORPHA:2614
disease_name: Nail-patella syndrome
Onychoosteodysplasia
Turner-Kieser syndrome
gene_symbol: LMX1B
disease_id: OMIM:161200
disease_name: NAIL-PATELLA SYNDROME
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: UBR7
disease_id: OMIM:619189
disease_name: LI-CAMPEAU SYNDROME
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: PRMT7
disease_id: ORPHA:464288
disease_name: Short stature-brachydactyly-obesity-global developmental delay syndrome
SBIDDS
gene_symbol: ANAPC1
disease_id: ORPHA:221008
disease_name: Rothmund-Thomson syndrome type 1
Poikiloderma of Rothmund-Thomson type 1
RTS1
gene_symbol: AMMECR1
disease_id: OMIM:300990
disease_name: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
gene_symbol: GNPNAT1
disease_id: OMIM:619598
disease_name: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE
gene_symbol: MTHFS
disease_id: OMIM:618367
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION
gene_symbol: CPLANE1
disease_id: OMIM:277170
disease_name: OROFACIODIGITAL SYNDROME VI
gene_symbol: TGDS
disease_id: OMIM:616145
disease_name: CATEL-MANZKE SYNDROME
gene_symbol: TRPV6
disease_id: OMIM:618188
disease_name: HYPERPARATHYROIDISM, TRANSIENT NEONATAL
gene_symbol: RAB34
disease_id: OMIM:620718
disease_name: OROFACIODIGITAL SYNDROME XX
gene_symbol: CAMK2A
disease_id: OMIM:617798
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53
gene_symbol: SLC31A1
disease_id: OMIM:620306
disease_name: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT
gene_symbol: FGFR3
disease_id: ORPHA:1860
disease_name: Thanatophoric dysplasia type 1
TD1
Thanatophoric dwarfism type 1
gene_symbol: FGFR3
disease_id: OMIM:100800
disease_name: ACHONDROPLASIA
gene_symbol: POLR3A
disease_id: OMIM:264090
disease_name: WIEDEMANN-RAUTENSTRAUCH SYNDROME
gene_symbol: POLR3A
disease_id: ORPHA:3455
disease_name: Wiedemann-Rautenstrauch syndrome
Neonatal progeroid syndrome
gene_symbol: TBX15
disease_id: ORPHA:93333
disease_name: Pelviscapular dysplasia
Cousin syndrome
Familial pelvis-scapular dysplasia
gene_symbol: ALG12
disease_id: OMIM:607143
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig
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: AGPS
disease_id: OMIM:600121
disease_name: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3
gene_symbol: IHH
disease_id: OMIM:607778
disease_name: ACROCAPITOFEMORAL DYSPLASIA
gene_symbol: SUCLG1
disease_id: ORPHA:17
disease_name: Fatal infantile lactic acidosis with methylmalonic aciduria
gene_symbol: TAPT1
disease_id: OMIM:616897
disease_name: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
gene_symbol: TNFRSF11A
disease_id: OMIM:602080
disease_name: PAGET DISEASE OF BONE 2, EARLY-ONSET
gene_symbol: SERPINH1
disease_id: OMIM:613848
disease_name: OSTEOGENESIS IMPERFECTA, TYPE X
gene_symbol: UBAP2L
disease_id: OMIM:620494
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES
gene_symbol: COL11A1
disease_id: ORPHA:440354
disease_name: Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome
gene_symbol: CCN2
disease_id: OMIM:211350
disease_name: KYPHOMELIC DYSPLASIA
gene_symbol: IKBKG
disease_id: ORPHA:464
disease_name: Incontinentia pigmenti
Bloch-Siemens syndrome
Bloch-Sulzberger syndrome
gene_symbol: REV3L
disease_id: ORPHA:570
disease_name: Moebius syndrome
Möbius syndrome
gene_symbol: DLX6
disease_id: ORPHA:2440
disease_name: Isolated split hand-split foot malformation
Ectrodactyly
SHFM
Split hand foot malformation
gene_symbol: SEM1
disease_id: ORPHA:2440
disease_name: Isolated split hand-split foot malformation
Ectrodactyly
SHFM
Split hand foot malformation
gene_symbol: BTRC
disease_id: ORPHA:2440
disease_name: Isolated split hand-split foot malformation
Ectrodactyly
SHFM
Split hand foot malformation
gene_symbol: EPS15L1
disease_id: ORPHA:2440
disease_name: Isolated split hand-split foot malformation
Ectrodactyly
SHFM
Split hand foot malformation
gene_symbol: FBXW4
disease_id: ORPHA:2440
disease_name: Isolated split hand-split foot malformation
Ectrodactyly
SHFM
Split hand foot malformation
gene_symbol: WNT10B
disease_id: ORPHA:2440
disease_name: Isolated split hand-split foot malformation
Ectrodactyly
SHFM
Split hand foot malformation
gene_symbol: DLX5
disease_id: ORPHA:2440
disease_name: Isolated split hand-split foot malformation
Ectrodactyly
SHFM
Split hand foot malformation
gene_symbol: RBPJ
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: NOTCH1
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: ARHGAP31
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: DOCK6
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: EOGT
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: DLL4
disease_id: ORPHA:974
disease_name: Adams-Oliver syndrome
AOS
Aplasia cutis congenita with distal limb anomalies
Aplasia cutis congenita with terminal transverse limb defects
Congenital scalp defects with distal limb anomalies
Congenital scalp defects with distal limb reduction anomalies
gene_symbol: TBX3
disease_id: ORPHA:3138
disease_name: Ulnar-mammary syndrome
Pallister ulnar-mammary syndrome
Schinzel syndrome
UMS
gene_symbol: TFAP2B
disease_id: ORPHA:46627
disease_name: Char syndrome
Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
gene_symbol: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: DDR2
disease_id: OMIM:271665
disease_name: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
gene_symbol: GPX4
disease_id: ORPHA:93317
disease_name: Spondylometaphyseal dysplasia, Sedaghatian type
gene_symbol: ANTXR2
disease_id: ORPHA:2176
disease_name: Infantile systemic hyalinosis
gene_symbol: COL11A2
disease_id: OMIM:215150
disease_name: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE
gene_symbol: BCR
disease_id: ORPHA:261330
disease_name: Distal 22q11.2 microdeletion syndrome
Distal del(22)(q11.2)
Distal monosomy 22q11.2
gene_symbol: CRKL
disease_id: ORPHA:261330
disease_name: Distal 22q11.2 microdeletion syndrome
Distal del(22)(q11.2)
Distal monosomy 22q11.2
gene_symbol: MAPK1
disease_id: ORPHA:261330
disease_name: Distal 22q11.2 microdeletion syndrome
Distal del(22)(q11.2)
Distal monosomy 22q11.2
gene_symbol: TMEM53
disease_id: OMIM:619727
disease_name: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE
gene_symbol: YY1AP1
disease_id: ORPHA:79094
disease_name: Grange syndrome
Grange occlusive arterial syndrome
Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome
gene_symbol: MAPRE2
disease_id: OMIM:616734
disease_name: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2
gene_symbol: RAB3GAP2
disease_id: OMIM:212720
disease_name: MARTSOLF SYNDROME
gene_symbol: SCUBE3
disease_id: OMIM:619184
disease_name: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2
gene_symbol: KLHL15
disease_id: OMIM:300982
disease_name: MENTAL RETARDATION, X-LINKED 103
gene_symbol: PPP2R3C
disease_id: OMIM:618419
disease_name: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY
gene_symbol: PRKAR1A
disease_id: OMIM:101800
disease_name: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE
gene_symbol: RAB23
disease_id: ORPHA:65759
disease_name: Carpenter syndrome
ACPS2
Acrocephalopolysyndactyly type 2
gene_symbol: MEGF8
disease_id: ORPHA:65759
disease_name: Carpenter syndrome
ACPS2
Acrocephalopolysyndactyly type 2
gene_symbol: SIL1
disease_id: ORPHA:559
disease_name: Marinesco-Sjögren syndrome
gene_symbol: CRLF1
disease_id: OMIM:272430
disease_name: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1
gene_symbol: LMNA
disease_id: ORPHA:79474
disease_name: Atypical Werner syndrome
Atypical progeroid syndrome
gene_symbol: FGF9
disease_id: ORPHA:3237
disease_name: Multiple synostoses syndrome
Deafness-Hermann type symphalangism syndrome
Facio-audio-symphalangism
Hearing loss-Hermann type symphalangism syndrome
Symphalangism-brachydactyly syndrome
WL syndrome
gene_symbol: GDF6
disease_id: ORPHA:3237
disease_name: Multiple synostoses syndrome
Deafness-Hermann type symphalangism syndrome
Facio-audio-symphalangism
Hearing loss-Hermann type symphalangism syndrome
Symphalangism-brachydactyly syndrome
WL syndrome
gene_symbol: TRPV4
disease_id: OMIM:184095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE
gene_symbol: DVL3
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: WNT5A
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: WNT5A
disease_id: OMIM:180700
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
gene_symbol: DVL1
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: DVL1
disease_id: OMIM:180700
disease_name: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1
gene_symbol: PTDSS1
disease_id: ORPHA:2658
disease_name: Lenz-Majewski hyperostotic dwarfism
gene_symbol: EVC2
disease_id: OMIM:193530
disease_name: WEYERS ACROFACIAL DYSOSTOSIS
gene_symbol: EVC
disease_id: OMIM:193530
disease_name: WEYERS ACROFACIAL DYSOSTOSIS
gene_symbol: SNIP1
disease_id: OMIM:614501
disease_name: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM
gene_symbol: SMARCA2
disease_id: ORPHA:3051
disease_name: Nicolaides-Baraitser syndrome
Intellectual disability-sparse hair-brachydactyly syndrome
gene_symbol: COL9A2
disease_id: OMIM:600204
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, 2
gene_symbol: SH3PXD2B
disease_id: OMIM:249420
disease_name: FRANK-TER HAAR SYNDROME
gene_symbol: TRIO
disease_id: ORPHA:476126
disease_name: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
gene_symbol: KRAS
disease_id: ORPHA:3339
disease_name: Oculoectodermal syndrome
Aplasia cutis congenita-epibulbar dermoids syndrome
gene_symbol: MRPS28
disease_id: OMIM:618958
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47
gene_symbol: CAMTA1
disease_id: OMIM:614756
disease_name: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
gene_symbol: COG4
disease_id: ORPHA:85172
disease_name: Microcephalic osteodysplastic dysplasia, Saul-Wilson type
gene_symbol: TCF4
disease_id: OMIM:610954
disease_name: PITT-HOPKINS SYNDROME
gene_symbol: ROR2
disease_id: OMIM:268310
disease_name: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 1
gene_symbol: PIK3R1
disease_id: ORPHA:3163
disease_name: SHORT syndrome
Lipodystrophy-Rieger anomaly-diabetes syndrome
Rieger anomaly-partial lipodystrophy syndrome
gene_symbol: RAI1
disease_id: OMIM:182290
disease_name: SMITH-MAGENIS SYNDROME
gene_symbol: RSPRY1
disease_id: ORPHA:457395
disease_name: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
gene_symbol: WAC
disease_id: ORPHA:466950
disease_name: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
Desanto-Shinawi syndrome due to WAC point mutation
gene_symbol: ANKRD11
disease_id: OMIM:148050
disease_name: KBG SYNDROME
gene_symbol: HINT1
disease_id: ORPHA:324442
disease_name: Autosomal recessive axonal neuropathy with neuromyotonia
ARAN-NM
ARCMT2-NM
Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia
gene_symbol: PIGS
disease_id: OMIM:618143
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18
gene_symbol: HEPHL1
disease_id: OMIM:261990
disease_name: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY
gene_symbol: LZTFL1
disease_id: OMIM:615994
disease_name: BARDET-BIEDL SYNDROME 17
gene_symbol: ZNF407
disease_id: OMIM:619557
disease_name: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES
gene_symbol: FAT4
disease_id: OMIM:615546
disease_name: VAN MALDERGEM SYNDROME 2
gene_symbol: ITPR1
disease_id: OMIM:206700
disease_name: GILLESPIE SYNDROME
gene_symbol: DCHS1
disease_id: OMIM:601390
disease_name: VAN MALDERGEM SYNDROME 1
gene_symbol: IQCE
disease_id: OMIM:617642
disease_name: POLYDACTYLY, POSTAXIAL, TYPE A7
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: WNT7A
disease_id: OMIM:276820
disease_name: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY
gene_symbol: WNT7A
disease_id: OMIM:228930
disease_name: FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY
gene_symbol: SVBP
disease_id: OMIM:618569
disease_name: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY
gene_symbol: WASF1
disease_id: OMIM:618707
disease_name: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES
gene_symbol: CEP120
disease_id: OMIM:616300
disease_name: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY
gene_symbol: GPC6
disease_id: OMIM:258315
disease_name: OMODYSPLASIA 1
gene_symbol: EIF4A3
disease_id: ORPHA:3102
disease_name: Richieri Costa-Pereira syndrome
Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome
Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome
gene_symbol: EIF4A3
disease_id: OMIM:268305
disease_name: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES
gene_symbol: NEK1
disease_id: ORPHA:2751
disease_name: Orofaciodigital syndrome type 2
Mohr syndrome
OFD2
Oral-facial-digital syndrome type 2
gene_symbol: SMOC1
disease_id: ORPHA:1106
disease_name: Microphthalmia with limb anomalies
Anophthalmia-syndactyly syndrome
OAS
Ophthalmoacromelic syndrome
Waardenburg anophthalmia syndrome
gene_symbol: LIFR
disease_id: OMIM:601559
disease_name: STUVE-WIEDEMANN SYNDROME
gene_symbol: INTU
disease_id: OMIM:617925
disease_name: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY
gene_symbol: LAMA5
disease_id: OMIM:620076
disease_name: BENT BONE DYSPLASIA SYNDROME 2
gene_symbol: DONSON
disease_id: OMIM:251230
disease_name: MICROCEPHALY-MICROMELIA SYNDROME
gene_symbol: GLI3
disease_id: ORPHA:93322
disease_name: Isolated tibial hemimelia
Isolated congenital absence of tibia
Isolated congenital aplasia and dysplasia of the tibia with intact fibula
Isolated congenital longitudinal deficiency of the tibia
Isolated tibial longitudinal meromelia
gene_symbol: BHLHA9
disease_id: ORPHA:3329
disease_name: Tibial aplasia-ectrodactyly syndrome
Aplasia of tibia with split-hand/split-foot deformity
SHFLD syndrome
SHFM associated with aplasia of long bones
Split hand/foot malformation with long bone deficiency
Split-hand/foot malformation associated with aplasia of long bones
TH-SHFM
Tibial hemimelia with split hand/foot malformation
Tibial hemimelia-ectrodactyly syndrome
gene_symbol: BHLHA9
disease_id: ORPHA:1986
disease_name: Gollop-Wolfgang complex
Bifid femur-monodactylous ectrodactyly syndrome
gene_symbol: ZSWIM6
disease_id: ORPHA:1827
disease_name: Acromelic frontonasal dysplasia
AFND
Acromelic frontonasal dysostosis
Toriello syndrome
gene_symbol: LMBR1
disease_id: ORPHA:988
disease_name: Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
Absent tibia-polydactyly syndrome
Werner mesomelic spectrum
gene_symbol: SHH
disease_id: ORPHA:988
disease_name: Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
Absent tibia-polydactyly syndrome
Werner mesomelic spectrum
gene_symbol: TCTN3
disease_id: ORPHA:2753
disease_name: Orofaciodigital syndrome type 4
Baraitser-Burn syndrome
Mohr-Majewski syndrome
OFD4
Oral-facial-digital syndrome type 4
gene_symbol: SNRPB
disease_id: OMIM:117650
disease_name: CEREBROCOSTOMANDIBULAR SYNDROME
gene_symbol: GSC
disease_id: OMIM:602471
disease_name: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES
gene_symbol: TNFRSF11B
disease_id: OMIM:239000
disease_name: PAGET DISEASE OF BONE 5, JUVENILE-ONSET
gene_symbol: MYSM1
disease_id: ORPHA:508542
disease_name: Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
MYSM1 deficiency
gene_symbol: GNPAT
disease_id: OMIM:222765
disease_name: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2
gene_symbol: ZIC3
disease_id: OMIM:314390
disease_name: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
gene_symbol: PEX5
disease_id: OMIM:616716
disease_name: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5
gene_symbol: POLA1
disease_id: OMIM:301030
disease_name: VAN ESCH-O'DRISCOLL SYNDROME
gene_symbol: BMP4
disease_id: OMIM:607932
disease_name: MICROPHTHALMIA, SYNDROMIC 6
gene_symbol: IFT57
disease_id: OMIM:617927
disease_name: OROFACIODIGITAL SYNDROME XVIII
gene_symbol: MIR17HG
disease_id: ORPHA:391646
disease_name: Feingold syndrome type 2
Brachydactyly-short stature-microcephaly syndrome
Brunner-Winter syndrome type 2
FGLDS2
FS2
MMT type 2
Microcephaly-digital anomalies-normal intelligence syndrome type 2
Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2
gene_symbol: 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: PIGO
disease_id: OMIM:614749
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2
gene_symbol: PGAP3
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PGAP3
disease_id: OMIM:615716
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4
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: PGAP2
disease_id: OMIM:614207
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3
gene_symbol: ALG6
disease_id: ORPHA:79320
disease_name: ALG6-CDG
CDG syndrome type Ic
CDG-Ic
CDG1C
Carbohydrate deficient glycoprotein syndrome type Ic
Congenital disorder of glycosylation type 1c
Congenital disorder of glycosylation type Ic
Glucosyltransferase 1 deficiency
gene_symbol: BRCA1
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: MAD2L2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: XRCC2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: UBE2T
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: BRCA2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCL
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCD2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCA
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCB
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCC
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCE
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCF
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCG
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RAD51
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RAD51C
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: RFWD3
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: BRIP1
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCM
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: PALB2
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: SLX4
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: ERCC4
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: FANCI
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: EXT1
disease_id: ORPHA:321
disease_name: Multiple osteochondromas
Bessel-Hagen disease
Multiple cartilaginous exostoses
gene_symbol: EXT2
disease_id: ORPHA:321
disease_name: Multiple osteochondromas
Bessel-Hagen disease
Multiple cartilaginous exostoses
gene_symbol: ALPL
disease_id: OMIM:241500
disease_name: HYPOPHOSPHATASIA, INFANTILE
gene_symbol: ADNP
disease_id: OMIM:615873
disease_name: HELSMOORTEL-VAN DER AA SYNDROME
gene_symbol: PPIB
disease_id: OMIM:259440
disease_name: OSTEOGENESIS IMPERFECTA, TYPE IX
gene_symbol: MMP13
disease_id: OMIM:250400
disease_name: METAPHYSEAL DYSPLASIA, SPAHR TYPE
gene_symbol: MMP13
disease_id: ORPHA:93356
disease_name: Spondyloepimetaphyseal dysplasia, Missouri type
SEMD type 2
SEMD, Missouri type
Spondyloepimetaphyseal dysplasia type 2
gene_symbol: MMP13
disease_id: ORPHA:2501
disease_name: Metaphyseal chondrodysplasia, Spahr type
gene_symbol: GNA11
disease_id: ORPHA:1556
disease_name: Cutis marmorata telangiectatica congenita
CMTC
gene_symbol: ARL6IP6
disease_id: ORPHA:1556
disease_name: Cutis marmorata telangiectatica congenita
CMTC
gene_symbol: ATR
disease_id: OMIM:210600
disease_name: SECKEL SYNDROME 1
gene_symbol: CHRNG
disease_id: OMIM:265000
disease_name: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
gene_symbol: KAT6B
disease_id: OMIM:606170
disease_name: GENITOPATELLAR SYNDROME
gene_symbol: KAT6B
disease_id: ORPHA:85201
disease_name: Genitopatellar syndrome
Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome
gene_symbol: ESCO2
disease_id: ORPHA:3103
disease_name: Roberts syndrome
Pseudothalidomide syndrome
Roberts-SC phocomelia syndrome
SC phocomelia
SC pseudothalidomide syndrome
gene_symbol: CDT1
disease_id: ORPHA:2554
disease_name: Ear-patella-short stature syndrome
Meier-Gorlin syndrome
gene_symbol: CDT1
disease_id: OMIM:613804
disease_name: MEIER-GORLIN SYNDROME 4
gene_symbol: ORC4
disease_id: ORPHA:2554
disease_name: Ear-patella-short stature syndrome
Meier-Gorlin syndrome
gene_symbol: ORC4
disease_id: OMIM:613800
disease_name: MEIER-GORLIN SYNDROME 2
gene_symbol: CDC6
disease_id: ORPHA:2554
disease_name: Ear-patella-short stature syndrome
Meier-Gorlin syndrome
gene_symbol: CDC6
disease_id: OMIM:613805
disease_name: MEIER-GORLIN SYNDROME 5
gene_symbol: GMNN
disease_id: ORPHA:2554
disease_name: Ear-patella-short stature syndrome
Meier-Gorlin syndrome
gene_symbol: GMNN
disease_id: OMIM:616835
disease_name: MEIER-GORLIN SYNDROME 6
gene_symbol: GDF5
disease_id: ORPHA:2639
disease_name: Fibular aplasia-complex brachydactyly syndrome
Du Pan syndrome
gene_symbol: BMPR1B
disease_id: ORPHA:2639
disease_name: Fibular aplasia-complex brachydactyly syndrome
Du Pan syndrome
gene_symbol: FLNB
disease_id: ORPHA:1263
disease_name: Boomerang dysplasia
gene_symbol: SHOX
disease_id: ORPHA:2632
disease_name: Langer mesomelic dysplasia
Mesomelic dwarfism, Langer type
gene_symbol: RECQL4
disease_id: ORPHA:221016
disease_name: Rothmund-Thomson syndrome type 2
Poikiloderma of Rothmund-Thomson type 2
RTS2
gene_symbol: TBX4
disease_id: ORPHA:1509
disease_name: Coxopodopatellar syndrome
Ischiocoxopodopatellar syndrome
Ischiopatellar dysplasia
Ischiopubicpatellar syndrome
SPS
Scott-Taor syndrome
Small patella syndrome
gene_symbol: ARID1B
disease_id: OMIM:135900
disease_name: COFFIN-SIRIS SYNDROME 1
gene_symbol: CDC45
disease_id: OMIM:617063
disease_name: MEIER-GORLIN SYNDROME 7
gene_symbol: ORC1
disease_id: OMIM:224690
disease_name: MEIER-GORLIN SYNDROME 1
gene_symbol: RBM8A
disease_id: ORPHA:3320
disease_name: Thrombocytopenia-absent radius syndrome
TAR syndrome
gene_symbol: ORC6
disease_id: OMIM:613803
disease_name: MEIER-GORLIN SYNDROME 3
gene_symbol: FKBP10
disease_id: ORPHA:1149
disease_name: Kuskokwim syndrome
Arthrogryposis-like syndrome
Kuskokwim disease
gene_symbol: MMP9
disease_id: ORPHA:1040
disease_name: Metaphyseal anadysplasia
Maroteaux-Verloes-Stanescu syndrome
Regressive metaphyseal dysplasia
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: 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: 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: 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: 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: TGFB1
disease_id: ORPHA:1328
disease_name: Camurati-Engelmann disease
Progressive diaphyseal dysplasia
gene_symbol: HOXD13
disease_id: ORPHA:887
disease_name: VACTERL/VATER association
VACTERL association
VATER association
Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association
gene_symbol: MACROH2A1
disease_id: ORPHA:1275
disease_name: Brachydactyly-elbow wrist dysplasia syndrome
Brachydactyly-joint dysplasia syndrome
Liebenberg syndrome
gene_symbol: DHCR7
disease_id: ORPHA:818
disease_name: Smith-Lemli-Opitz syndrome
7-dehydrocholesterol reductase deficiency
RSH syndrome
SLOS
gene_symbol: ATP7A
disease_id: ORPHA:198
disease_name: Occipital horn syndrome
gene_symbol: IFNGR1
disease_id: OMIM:209950
disease_name: IMMUNODEFICIENCY 27A
gene_symbol: IDUA
disease_id: OMIM:607014
disease_name: HURLER SYNDROME
gene_symbol: POP1
disease_id: OMIM:617396
disease_name: ANAUXETIC DYSPLASIA 2
gene_symbol: TRAF3IP1
disease_id: OMIM:616629
disease_name: SENIOR-LOKEN SYNDROME 9
gene_symbol: KIF15
disease_id: ORPHA:261323
disease_name: 21q22.11q22.12 microdeletion syndrome
Del(21)(q22.11q22.12)
Monosomy 21q22.11q22.12
gene_symbol: SOX4
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: ARID1A
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: SMARCC2
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: ARID2
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: SOX11
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: RAC1
disease_id: ORPHA:500159
disease_name: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
gene_symbol: CNOT2
disease_id: OMIM:618608
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES
gene_symbol: MEIS2
disease_id: OMIM:600987
disease_name: CLEFT PALATE, CARDIAC DEFECTS, AND MENTAL RETARDATION
gene_symbol: KIF21A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: TUBB2B
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: TUBA1A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: PHOX2A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: COL25A1
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: RPL26
disease_id: OMIM:614900
disease_name: DIAMOND-BLACKFAN ANEMIA 11
gene_symbol: ABCA12
disease_id: OMIM:242500
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B
gene_symbol: CDC42BPB
disease_id: OMIM:619841
disease_name: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
gene_symbol: RYR3
disease_id: OMIM:620310
disease_name: CONGENITAL MYOPATHY 20
gene_symbol: ASPH
disease_id: OMIM:601552
disease_name: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS
gene_symbol: LMNB2
disease_id: OMIM:619180
disease_name: MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT
gene_symbol: AP1G1
disease_id: OMIM:619467
disease_name: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT
gene_symbol: PIGA
disease_id: OMIM:300868
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
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: KCNA1
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: PIGQ
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: SLC32A1
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: GNAO1
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: TRIM8
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: GRIN1
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: SLC25A22
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: SIK1
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: CASK
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: DMXL2
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: GRM7
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: ARX
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: PNKP
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: SCN2A
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: PIGP
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: SCN1B
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: NEUROD2
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: EN1
disease_id: OMIM:619218
disease_name: ENDOVE SYNDROME, LIMB-BRAIN TYPE
gene_symbol: IRX5
disease_id: OMIM:611174
disease_name: HAMAMY SYNDROME
gene_symbol: LONP1
disease_id: OMIM:600373
disease_name: CODAS SYNDROME
gene_symbol: DYNC2H1
disease_id: OMIM:613091
disease_name: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY
gene_symbol: PITX1
disease_id: OMIM:119800
disease_name: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY
gene_symbol: CHD7
disease_id: OMIM:214800
disease_name: CHARGE SYNDROME
gene_symbol: CHN1
disease_id: ORPHA:233
disease_name: Duane retraction syndrome
DRS
DURS
Duane syndrome
Stilling-Turk-Duane syndrome
gene_symbol: RB1
disease_id: ORPHA:1587
disease_name: Monosomy 13q14 syndrome
Del(13)(q14)
Deletion 13q14
gene_symbol: FRAS1
disease_id: OMIM:219000
disease_name: FRASER SYNDROME 1
gene_symbol: CUL3
disease_id: OMIM:619239
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES
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: RPS27
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: 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: KDM1A
disease_id: OMIM:616728
disease_name: CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES
gene_symbol: KDM1A
disease_id: ORPHA:477993
disease_name: Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome
gene_symbol: BICRA
disease_id: OMIM:619325
disease_name: COFFIN-SIRIS SYNDROME 12
gene_symbol: BCOR
disease_id: ORPHA:2712
disease_name: Oculofaciocardiodental syndrome
Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome
OFCD syndrome
gene_symbol: TFAP2A
disease_id: OMIM:113620
disease_name: BRANCHIOOCULOFACIAL SYNDROME
gene_symbol: TRPM3
disease_id: OMIM:620224
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES
gene_symbol: ZNF699
disease_id: OMIM:619488
disease_name: DEGCAGS SYNDROME
gene_symbol: MED12
disease_id: OMIM:300895
disease_name: OHDO SYNDROME, X-LINKED
gene_symbol: WIPI2
disease_id: OMIM:618453
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
gene_symbol: CHUK
disease_id: OMIM:613630
disease_name: FETAL ENCASEMENT SYNDROME
gene_symbol: PAPSS2
disease_id: OMIM:612847
disease_name: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES
gene_symbol: CDH11
disease_id: ORPHA:1299
disease_name: Branchioskeletogenital syndrome
BSG syndrome
Elsahy-Waters syndrome
gene_symbol: SLC26A2
disease_id: ORPHA:56304
disease_name: Atelosteogenesis type II
AO2
AOII
Atelosteogenesis type 2
De la Chapelle dysplasia
Neonatal osseous dysplasia type 1
gene_symbol: SLC26A2
disease_id: ORPHA:93307
disease_name: Multiple epiphyseal dysplasia type 4
Autosomal recessive multiple epiphyseal dysplasia
EDM4
MED4
Polyepiphyseal dysplasia type 4
rMED
gene_symbol: DPM1
disease_id: OMIM:608799
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie
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: PIGT
disease_id: ORPHA:369837
disease_name: Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
Congenital disorder of glycosylation due to PIGT deficiency
MCAHS type 3
Multiple congenital anomalies-hypotonia-seizures syndrome type 3
PIGT-CDG
gene_symbol: SALL4
disease_id: OMIM:147750
disease_name: IVIC SYNDROME
gene_symbol: PDE4D
disease_id: ORPHA:439822
disease_name: PDE4D haploinsufficiency syndrome
gene_symbol: FN1
disease_id: ORPHA:93315
disease_name: Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Sutcliffe type
gene_symbol: LBR
disease_id: OMIM:169400
disease_name: PELGER-HUET ANOMALY
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: HYLS1
disease_id: OMIM:236680
disease_name: HYDROLETHALUS SYNDROME 1
gene_symbol: PIGB
disease_id: OMIM:618580
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80
gene_symbol: STAMBP
disease_id: OMIM:614261
disease_name: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME
gene_symbol: ACTL6B
disease_id: OMIM:618470
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS
gene_symbol: FTSJ1
disease_id: OMIM:309549
disease_name: MENTAL RETARDATION, X-LINKED 9
gene_symbol: GLI1
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: MTOR
disease_id: OMIM:616638
disease_name: SMITH-KINGSMORE SYNDROME
gene_symbol: GGCX
disease_id: OMIM:277450
disease_name: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1
gene_symbol: ZBTB20
disease_id: OMIM:259050
disease_name: PRIMROSE SYNDROME
gene_symbol: EDA2R
disease_id: ORPHA:181
disease_name: X-linked hypohidrotic ectodermal dysplasia
Christ-Siemens-Touraine syndrome
X-linked anhidrotic ectodermal dysplasia
XHED
gene_symbol: EDA
disease_id: ORPHA:181
disease_name: X-linked hypohidrotic ectodermal dysplasia
Christ-Siemens-Touraine syndrome
X-linked anhidrotic ectodermal dysplasia
XHED
gene_symbol: CCDC22
disease_id: OMIM:300963
disease_name: RITSCHER-SCHINZEL SYNDROME 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: CBFB
disease_id: OMIM:620099
disease_name: CLEIDOCRANIAL DYSPLASIA 2
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: FERMT1
disease_id: ORPHA:2908
disease_name: Kindler epidermolysis bullosa
Congenital bullous poikiloderma
Kindler syndrome
Poikiloderma of Kindler
gene_symbol: FBXL3
disease_id: OMIM:606220
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS
gene_symbol: PTCH1
disease_id: OMIM:109400
disease_name: BASAL CELL NEVUS SYNDROME
gene_symbol: FGF16
disease_id: OMIM:309630
disease_name: METACARPAL 4-5 FUSION
gene_symbol: DNA2
disease_id: OMIM:620819
disease_name: ROTHMUND-THOMSON SYNDROME, TYPE 4
gene_symbol: DNA2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HHAT
disease_id: OMIM:600092
disease_name: NIVELON-NIVELON-MABILLE SYNDROME
gene_symbol: HHAT
disease_id: ORPHA:1422
disease_name: Chondrodysplasia-difference of sex development syndrome
Chondrodysplasia-disorder of sex development syndrome
Chondrodysplasia-pseudohermaphroditism syndrome
Nivelon-Nivelon-Mabille syndrome
gene_symbol: POR
disease_id: ORPHA:95699
disease_name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital adrenal hyperplasia due to cytochrome POR deficiency
POR deficiency
PORD
gene_symbol: POR
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GNAS-AS1
disease_id: OMIM:603233
disease_name: PSEUDOHYPOPARATHYROIDISM, TYPE IB
gene_symbol: STX16
disease_id: OMIM:603233
disease_name: PSEUDOHYPOPARATHYROIDISM, TYPE IB
gene_symbol: TWIST2
disease_id: OMIM:200110
disease_name: ABLEPHARON-MACROSTOMIA SYNDROME
gene_symbol: CLDN16
disease_id: OMIM:248250
disease_name: HYPOMAGNESEMIA 3, RENAL
gene_symbol: SRCAP
disease_id: ORPHA:2044
disease_name: Floating-Harbor syndrome
gene_symbol: SRCAP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CD96
disease_id: OMIM:211750
disease_name: C SYNDROME
gene_symbol: P3H1
disease_id: OMIM:610915
disease_name: OSTEOGENESIS IMPERFECTA, TYPE VIII
gene_symbol: P3H1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RPS6KA3
disease_id: OMIM:303600
disease_name: COFFIN-LOWRY SYNDROME
gene_symbol: RPS6KA3
disease_id: ORPHA:192
disease_name: Coffin-Lowry syndrome
CLS
gene_symbol: NSD1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CDKN1C
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ALG3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CA2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SLC34A3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PTPN11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HRAS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ABCC9
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: FBN2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FERMT3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TCTN2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GLB1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NPPC
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NFIX
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ZC4H2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CCNQ
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DSE
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MKS1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CUL7
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: TNFSF11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FUCA1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SMAD3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SMARCAL1
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: TTI2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MESP2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PDE3A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PDE3A
disease_id: OMIM:112410
disease_name: HYPERTENSION AND BRACHYDACTYLY SYNDROME
gene_symbol: PDE3A
disease_id: ORPHA:1276
disease_name: Brachydactyly-arterial hypertension syndrome
Bilginturan brachydactyly
Bilginturan syndrome
Brachydactyly type E, with short stature and hypertension
gene_symbol: NKX3-2
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: SMAD2
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: SOST
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CEP290
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LFNG
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TGFBR1
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: CSF1R
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KIAA0586
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFT43
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SPRED1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CREB3L1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MYO18B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
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: 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: 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: CDC73
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MAFB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: OBSL1
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: PSMB1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PROP1
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: HMGA2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FGF10
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PPP1R21
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: 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: POU1F1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NBAS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL9A3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COL9A3
disease_id: OMIM:600969
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, 3
gene_symbol: PLOD1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: VPS35L
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CC2D2A
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: CCDC8
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: SCARF2
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: LHX4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GDF3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RREB1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ERF
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SOS1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RAF1
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: ECEL1
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: GLI2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SOS2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SULF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EP300
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: 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: MBTPS2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LRP5
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EFNB1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GNPTG
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DHODH
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FAM20C
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: COL1A2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: DHCR24
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CBL
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: LZTR1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: STIM1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RIPPLY2
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: POLR1D
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MEOX1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TBX6
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: APC2
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: PLCB4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
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: 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: CHST14
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RALA
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: EBP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SHOC2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CREBBP
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: NSMCE2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CKAP2L
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: RNPC3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PAM16
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: 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: 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: HSPA9
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: THPO
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NEU1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LEMD3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PSAT1
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: NRAS
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: HAAO
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TCF12
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RIT1
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: ALG9
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LTBP1
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: HOXA13
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: KIF7
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: MAP2K2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FUZ
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TGFB2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: VPS33A
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: NF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IDS
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: DNAJC21
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: COLEC11
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: MECOM
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: FMN1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: H19
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PEX7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PEX7
disease_id: ORPHA:773
disease_name: Refsum disease
Adult Refsum disease
Classic Refsum disease
HMSN 4
HMSN IV
Hereditary motor and sensory neuropathy type 4
Hereditary motor and sensory neuropathy type IV
Heredopathia atactica polyneuritiformis
Phytanic-CoA hydroxylase deficiency
gene_symbol: CRTAP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IFIH1
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: ID4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BTK
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GUSB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MGP
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: ACAN
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: MAP2K1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HS2ST1
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: PLK4
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GPR161
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SERPINF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MESD
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PROKR2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IDH1
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: 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: GNS
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TGFBR2
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: DMP1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HES7
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SOX3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: SMARCE1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GNPTAB
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HGSNAT
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MYL11
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: MAN2B1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FKBP14
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: SPRED2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NPR3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: HESX1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: TGFB3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PCYT1A
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PCYT1A
disease_id: ORPHA:85167
disease_name: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
SMD-CRD
gene_symbol: PCYT1A
disease_id: OMIM:608940
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY
gene_symbol: MMP14
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: FAM111A
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: CEP63
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POLR3B
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: LHX3
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: GCM2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BMPER
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IL6ST
disease_id: OMIM:615777
disease_name: DESBUQUOIS 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: DLL3
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: 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: NEK9
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NSD2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: BRAF
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: BRF1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: RASGRP2
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: POLE
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: NXN
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CYP27B1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: WNT1
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: PHGDH
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: IL1RN
disease_id: OMIM:615777
disease_name: DESBUQUOIS DYSPLASIA 2
gene_symbol: CWC27
disease_id: OMIM:250410
disease_name: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES
gene_symbol: CWC27
disease_id: ORPHA:166035
disease_name: Brachydactyly-short stature-retinitis pigmentosa syndrome
gene_symbol: NHS
disease_id: ORPHA:627
disease_name: Nance-Horan syndrome
gene_symbol: ASXL2
disease_id: OMIM:617190
disease_name: SHASHI-PENA SYNDROME
gene_symbol: PHYH
disease_id: ORPHA:773
disease_name: Refsum disease
Adult Refsum disease
Classic Refsum disease
HMSN 4
HMSN IV
Hereditary motor and sensory neuropathy type 4
Hereditary motor and sensory neuropathy type IV
Heredopathia atactica polyneuritiformis
Phytanic-CoA hydroxylase deficiency
gene_symbol: PPOX
disease_id: OMIM:620483
disease_name: VARIEGATE PORPHYRIA, CHILDHOOD-ONSET
gene_symbol: RMP64
disease_id: OMIM:618853
disease_name: ANAUXETIC DYSPLASIA 3
gene_symbol: ACVR1
disease_id: ORPHA:337
disease_name: Fibrodysplasia ossificans progressiva
FOP
Myositis ossificans progressiva
Stone man syndrome
gene_symbol: KAT6A
disease_id: OMIM:616268
disease_name: ARBOLEDA-THAM SYNDROME
gene_symbol: ROBO1
disease_id: OMIM:620305
disease_name: NEUROOCULORENAL SYNDROME
gene_symbol: CPLX1
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: CPLX1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: PIGG
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: NELFA
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: CTBP1
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: CTBP1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: LETM1
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: LETM1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: FGFRL1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: KCNJ8
disease_id: ORPHA:1517
disease_name: Cantú syndrome
Congenital hypertrichosis-acromegaloid facial features spectrum
Congenital hypertrichosis-coarse facial features spectrum
Hypertrichotic osteochondrodysplasia
gene_symbol: TPR
disease_id: OMIM:620393
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79
gene_symbol: RIPK4
disease_id: ORPHA:1234
disease_name: Bartsocas-Papas syndrome
Autosomal recessive popliteal pterygium syndrome
Lethal popliteal pterygium syndrome
gene_symbol: ATP6V1B2
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
gene_symbol: TBC1D24
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
gene_symbol: MAP3K20
disease_id: ORPHA:488232
disease_name: Split-foot malformation-mesoaxial polydactyly syndrome
SFMMP
Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome
gene_symbol: KCNN3
disease_id: OMIM:618658
disease_name: ZIMMERMANN-LABAND SYNDROME 3
gene_symbol: WNT3
disease_id: ORPHA:3301
disease_name: Tetraamelia-multiple malformations syndrome
PAPPA syndrome
PAPPAS
Zimmer phocomelia
gene_symbol: RSPO2
disease_id: ORPHA:3301
disease_name: Tetraamelia-multiple malformations syndrome
PAPPA syndrome
PAPPAS
Zimmer phocomelia
gene_symbol: PORCN
disease_id: OMIM:305600
disease_name: FOCAL DERMAL HYPOPLASIA
gene_symbol: NPR2
disease_id: OMIM:602875
disease_name: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
gene_symbol: PRKG2
disease_id: OMIM:619636
disease_name: ACROMESOMELIC DYSPLASIA 4
gene_symbol: EBF3
disease_id: ORPHA:96148
disease_name: Distal deletion 10q syndrome
Deletion 10qter
Distal monosomy 10q
Monosomy 10qter
Telomeric deletion 10q
gene_symbol: SALL1
disease_id: OMIM:107480
disease_name: TOWNES-BROCKS SYNDROME 1
gene_symbol: PTHLH
disease_id: OMIM:613382
disease_name: BRACHYDACTYLY, TYPE E2
gene_symbol: PTHLH
disease_id: ORPHA:93387
disease_name: Brachydactyly type E
gene_symbol: IFT52
disease_id: OMIM:617102
disease_name: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY
gene_symbol: DYM
disease_id: OMIM:223800
disease_name: DYGGVE-MELCHIOR-CLAUSEN DISEASE
gene_symbol: GNAS
disease_id: OMIM:612463
disease_name: PSEUDOPSEUDOHYPOPARATHYROIDISM
gene_symbol: GNAS
disease_id: OMIM:612462
disease_name: PSEUDOHYPOPARATHYROIDISM, TYPE IC
gene_symbol: GNAS
disease_id: ORPHA:79443
disease_name: Pseudohypoparathyroidism type 1A
AHO-PHP syndrome Ia
Albright hereditary osteodystrophy-PHP syndrome Ia
gene_symbol: GNAS
disease_id: ORPHA:79444
disease_name: Pseudohypoparathyroidism type 1C
gene_symbol: GNAS
disease_id: ORPHA:79445
disease_name: Pseudopseudohypoparathyroidism
AHO-PPHP syndrome
Albright hereditary osteodystrophy-PPHP syndrome
gene_symbol: GNAS
disease_id: OMIM:103580
disease_name: PSEUDOHYPOPARATHYROIDISM, TYPE IA
gene_symbol: VPS13B
disease_id: OMIM:216550
disease_name: COHEN SYNDROME
gene_symbol: FIG4
disease_id: OMIM:216340
disease_name: YUNIS-VARON SYNDROME
gene_symbol: RAB33B
disease_id: OMIM:615222
disease_name: SMITH-MCCORT DYSPLASIA 2
gene_symbol: SRY
disease_id: ORPHA:1772
disease_name: 45,X/46,XY mixed gonadal dysgenesis
45,X/46,XY MGD
45,X0/46,XY MGD
45,X0/46,XY mixed gonadal dysgenesis
gene_symbol: KNSTRN
disease_id: OMIM:613328
disease_name: ROIFMAN-CHITAYAT SYNDROME
gene_symbol: PIK3CD
disease_id: OMIM:613328
disease_name: ROIFMAN-CHITAYAT SYNDROME
gene_symbol: WLS
disease_id: OMIM:619648
disease_name: ZAKI SYNDROME
gene_symbol: DACT1
disease_id: ORPHA:857
disease_name: Townes-Brocks syndrome
Imperforate anus-hand, foot and ear anomalies syndrome
REAR syndrome
Renal-ear-anal-radial syndrome
Sensorineural deafness with imperforate anus and hypoplastic thumbs
Sensorineural hearing loss with imperforate anus and hypoplastic thumbs
TBS
Townes syndrome
gene_symbol: 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: SLC35A2
disease_id: ORPHA:356961
disease_name: SLC35A2-CDG
CDG syndrome type IIm
CDG-IIm
CDG2M
Congenital disorder of glycosylation type 2m
Congenital disorder of glycosylation type IIm
gene_symbol: TBX1
disease_id: ORPHA:3384
disease_name: Common arterial trunk
CAT
Common aorticopulmonary trunk
Truncus arteriosus
gene_symbol: NKX2-6
disease_id: ORPHA:3384
disease_name: Common arterial trunk
CAT
Common aorticopulmonary trunk
Truncus arteriosus
gene_symbol: PLXND1
disease_id: ORPHA:3384
disease_name: Common arterial trunk
CAT
Common aorticopulmonary trunk
Truncus arteriosus
gene_symbol: COL2A1
disease_id: ORPHA:94068
disease_name: Spondyloepiphyseal dysplasia congenita
Congenital spondyloepiphyseal dysplasia
SEDC
Spranger-Wiedemann disease
gene_symbol: COL2A1
disease_id: ORPHA:93346
disease_name: Spondyloepimetaphyseal dysplasia congenita, Strudwick type
gene_symbol: COL2A1
disease_id: ORPHA:1856
disease_name: Spondyloperipheral dysplasia-short ulna syndrome
gene_symbol: NSDHL
disease_id: ORPHA:139
disease_name: CHILD syndrome
CHILD nevus
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
gene_symbol: COMP
disease_id: ORPHA:750
disease_name: Pseudoachondroplasia
Pseudoachondroplastic dysplasia
Pseudoachondroplastic spondyloepiphyseal dysplasia
gene_symbol: COMP
disease_id: OMIM:132400
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, 1
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: DDRGK1
disease_id: OMIM:602557
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE
gene_symbol: AIFM1
disease_id: OMIM:300232
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY
gene_symbol: CFAP410
disease_id: OMIM:602271
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL
gene_symbol: TMEM67
disease_id: OMIM:602152
disease_name: RHYNS SYNDROME
gene_symbol: MBTPS1
disease_id: OMIM:618392
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE
gene_symbol: MTX2
disease_id: OMIM:619127
disease_name: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME
gene_symbol: EXOC6B
disease_id: OMIM:618395
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3
gene_symbol: CCN6
disease_id: ORPHA:1159
disease_name: Progressive pseudorheumatoid dysplasia
PPD
Progressive pseudorheumatoid arthropathy of childhood
Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome
gene_symbol: PRG4
disease_id: ORPHA:2848
disease_name: Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
Arthropathy-camptodactyly syndrome
CACP syndrome
Pericarditis-arthropathy-camptodactyly syndrome
gene_symbol: MATN3
disease_id: OMIM:607078
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
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:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: SLC10A7
disease_id: OMIM:618363
disease_name: SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS
gene_symbol: PIK3C2A
disease_id: OMIM:618440
disease_name: OCULOSKELETODENTAL SYNDROME
gene_symbol: P4HA1
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: XYLT2
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: PLOD3
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: GZF1
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: B3GAT3
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: PIEZO2
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: B4GALT7
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: KIF22
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: GORAB
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: CHST3
disease_id: OMIM:143095
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS
gene_symbol: CHD4
disease_id: OMIM:617159
disease_name: SIFRIM-HITZ-WEISS SYNDROME
gene_symbol: NANS
disease_id: OMIM:610442
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE
gene_symbol: SLC39A13
disease_id: ORPHA:157965
disease_name: SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
SCD-EDS
SLC39A13-related spEDS
SLC39A13-related spondylodysplastic EDS
Spondylocheirodysplastic Ehlers-Danlos syndrome
spEDS-SLC39A13
gene_symbol: SLC39A13
disease_id: OMIM:612350
disease_name: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3
gene_symbol: RUNX2
disease_id: OMIM:119600
disease_name: CLEIDOCRANIAL DYSPLASIA
gene_symbol: CTC1
disease_id: OMIM:612199
disease_name: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
gene_symbol: COL9A1
disease_id: OMIM:614134
disease_name: STICKLER SYNDROME, TYPE IV
gene_symbol: KIFBP
disease_id: OMIM:609460
disease_name: GOLDBERG-SHPRINTZEN SYNDROME
gene_symbol: CACNA2D1
disease_id: OMIM:620149
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110
gene_symbol: MTFMT
disease_id: OMIM:614947
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
gene_symbol: ACBD6
disease_id: OMIM:620785
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES
gene_symbol: ALG13
disease_id: OMIM:300884
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36
gene_symbol: MCTP2
disease_id: ORPHA:1596
disease_name: Distal deletion 15q syndrome
15q26 deletion syndrome
Distal monosomy 15q
Monosomy 15q26
Telomeric 15q deletion syndrome
gene_symbol: KMT2D
disease_id: ORPHA:2322
disease_name: Kabuki syndrome
Kabuki make-up syndrome
Niikawa-Kuroki syndrome
gene_symbol: KDM6A
disease_id: ORPHA:2322
disease_name: Kabuki syndrome
Kabuki make-up syndrome
Niikawa-Kuroki syndrome
gene_symbol: KMT2A
disease_id: OMIM:605130
disease_name: WIEDEMANN-STEINER SYNDROME
gene_symbol: PUM1
disease_id: OMIM:620719
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM
gene_symbol: HPGD
disease_id: ORPHA:2796
disease_name: Pachydermoperiostosis
PDP
Touraine-Solente-Gole syndrome
gene_symbol: SLCO2A1
disease_id: ORPHA:2796
disease_name: Pachydermoperiostosis
PDP
Touraine-Solente-Gole syndrome
gene_symbol: PCGF2
disease_id: OMIM:618371
disease_name: TURNPENNY-FRY 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: SPECC1L
disease_id: OMIM:145420
disease_name: HYPERTELORISM, TEEBI TYPE
gene_symbol: SMARCD1
disease_id: OMIM:618779
disease_name: COFFIN-SIRIS SYNDROME 11
gene_symbol: EIF4A2
disease_id: OMIM:620455
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES
gene_symbol: CTNNB1
disease_id: ORPHA:952
disease_name: Acrofacial dysostosis, Weyers type
Curry-Hall syndrome
Weyers acrodental dysostosis
Weyers acrofacial dysostosis
gene_symbol: CDK10
disease_id: OMIM:617694
disease_name: AL KAISSI SYNDROME
gene_symbol: IGF2
disease_id: OMIM:616489
disease_name: SILVER-RUSSELL SYNDROME 3
gene_symbol: WRN
disease_id: ORPHA:902
disease_name: Werner syndrome
Adult progeria
WS
gene_symbol: CNOT3
disease_id: OMIM:618672
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES
gene_symbol: SLC6A17
disease_id: OMIM:616269
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48
gene_symbol: FBXO28
disease_id: OMIM:619777
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100
gene_symbol: PRIM1
disease_id: OMIM:620005
disease_name: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
gene_symbol: XYLT1
disease_id: ORPHA:1425
disease_name: Desbuquois syndrome
DBQD
Desbuquois dysplasia
gene_symbol: CANT1
disease_id: ORPHA:1425
disease_name: Desbuquois syndrome
DBQD
Desbuquois dysplasia
gene_symbol: CSGALNACT1
disease_id: ORPHA:1425
disease_name: Desbuquois syndrome
DBQD
Desbuquois dysplasia
gene_symbol: MIR140
disease_id: OMIM:618618
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE
gene_symbol: CTCF
disease_id: OMIM:615502
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
gene_symbol: DPH1
disease_id: ORPHA:459061
disease_name: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
Developmental delay-short stature-dysmorphic features-sparse hair syndrome
Loucks-Innes syndrome
gene_symbol: DPH2
disease_id: ORPHA:459061
disease_name: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
Developmental delay-short stature-dysmorphic features-sparse hair syndrome
Loucks-Innes syndrome