Phenotype: Abnormal lens morphology (HP:0000517)
Associated genes and diseases:
gene_symbol: LOXL1
disease_id: OMIM:177650
disease_name: EXFOLIATION SYNDROME
gene_symbol: CHSY1
disease_id: ORPHA:363417
disease_name: Temtamy preaxial brachydactyly syndrome
gene_symbol: CRYAA
disease_id: OMIM:604219
disease_name: CATARACT 9, MULTIPLE TYPES
gene_symbol: CRYAA
disease_id: ORPHA:1377
disease_name: Cataract-microcornea syndrome
gene_symbol: CBS
disease_id: ORPHA:394
disease_name: Homocystinuria due to cystathionine beta-synthase deficiency
CBS-deficient HCU
Classical homocystinuria
Cystathionine beta-synthase deficiency
Cystathionine beta-synthase-deficient homocystinuria
Homocystinuria due to CBS deficiency
gene_symbol: CBS
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FKTN
disease_id: ORPHA:272
disease_name: Congenital muscular dystrophy, Fukuyama type
FCMD
FKTN-related congenital muscular dystrophy
Fukuyama congenital muscular dystrophy
gene_symbol: FKTN
disease_id: ORPHA:588
disease_name: Muscle-eye-brain disease
MEB syndrome
Muscle-eye-brain syndrome
Santavuori congenital muscular dystrophy
gene_symbol: FKTN
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: FKTN
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: FKTN
disease_id: OMIM:253800
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4
gene_symbol: FBXL4
disease_id: OMIM:615471
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
gene_symbol: GMPPB
disease_id: OMIM:615350
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
gene_symbol: GMPPB
disease_id: OMIM:615351
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14
gene_symbol: GMPPB
disease_id: OMIM:615352
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
gene_symbol: GMPPB
disease_id: ORPHA:588
disease_name: Muscle-eye-brain disease
MEB syndrome
Muscle-eye-brain syndrome
Santavuori congenital muscular dystrophy
gene_symbol: GMPPB
disease_id: ORPHA:370959
disease_name: Congenital muscular dystrophy with cerebellar involvement
CMD with cerebellar involvement
CMD-CRB
gene_symbol: GMPPB
disease_id: ORPHA:363623
disease_name: GMPPB-related limb-girdle muscular dystrophy R19
Autosomal recessive limb-girdle muscular dystrophy type 2T
GMPPB-related LGMD R19
LGMD type 2T
LGMD2T
Limb-girdle muscular dystrophy type 2T
gene_symbol: SPRTN
disease_id: OMIM:616200
disease_name: RUIJS-AALFS SYNDROME
gene_symbol: DNA2
disease_id: OMIM:620819
disease_name: ROTHMUND-THOMSON SYNDROME, TYPE 4
gene_symbol: FBN1
disease_id: ORPHA:1885
disease_name: Isolated ectopia lentis
Ectopia lentis syndrome
Familial ectopia lentis
gene_symbol: FBN1
disease_id: OMIM:184900
disease_name: STIFF SKIN SYNDROME
gene_symbol: FBN1
disease_id: OMIM:608328
disease_name: WEILL-MARCHESANI SYNDROME 2
gene_symbol: FBN1
disease_id: ORPHA:3449
disease_name: Weill-Marchesani syndrome
Spherophakia-brachymorphia syndrome
gene_symbol: FBN1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: ADAMTSL4
disease_id: ORPHA:1885
disease_name: Isolated ectopia lentis
Ectopia lentis syndrome
Familial ectopia lentis
gene_symbol: ADAMTSL4
disease_id: OMIM:225200
disease_name: ECTOPIA LENTIS ET PUPILLAE
gene_symbol: HMBS
disease_id: OMIM:620704
disease_name: ENCEPHALOPATHY, PORPHYRIA-RELATED
gene_symbol: ERCC8
disease_id: ORPHA:90324
disease_name: Cockayne syndrome type 3
Cockayne syndrome type III
gene_symbol: ERCC8
disease_id: ORPHA:90321
disease_name: Cockayne syndrome type 1
Cockayne syndrome type I
gene_symbol: ERCC8
disease_id: OMIM:216400
disease_name: COCKAYNE SYNDROME A
gene_symbol: ERCC6
disease_id: ORPHA:90324
disease_name: Cockayne syndrome type 3
Cockayne syndrome type III
gene_symbol: ERCC6
disease_id: ORPHA:90321
disease_name: Cockayne syndrome type 1
Cockayne syndrome type I
gene_symbol: ERCC6
disease_id: OMIM:214150
disease_name: CEREBROOCULOFACIOSKELETAL SYNDROME 1
gene_symbol: ERCC6
disease_id: ORPHA:1466
disease_name: COFS syndrome
Cerebrooculofacioskeletal syndrome
Pena-Shokeir syndrome type 2
gene_symbol: BRF1
disease_id: OMIM:616202
disease_name: CEREBELLOFACIODENTAL SYNDROME
gene_symbol: BRF1
disease_id: ORPHA:444072
disease_name: Cerebellar-facial-dental syndrome
Cerebellofaciodental syndrome
gene_symbol: TRAPPC11
disease_id: OMIM:615356
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18
gene_symbol: TRAPPC11
disease_id: ORPHA:369840
disease_name: TRAPPC11-related limb-girdle muscular dystrophy R18
Autosomal recessive limb-girdle muscular dystrophy type 2S
LGMD type 2S
LGMD2S
Limb-girdle muscular dystrophy type 2S
TRAPPC11-related LGMD R18
gene_symbol: TRAPPC11
disease_id: ORPHA:369847
disease_name: Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
gene_symbol: NRCAM
disease_id: OMIM:619833
disease_name: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES
gene_symbol: MED25
disease_id: OMIM:616449
disease_name: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME
gene_symbol: DNMT1
disease_id: ORPHA:314404
disease_name: Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
ADCA-DN syndrome
Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome
gene_symbol: WDR73
disease_id: OMIM:251300
disease_name: GALLOWAY-MOWAT SYNDROME 1
gene_symbol: NDP
disease_id: OMIM:310600
disease_name: NORRIE DISEASE
gene_symbol: NDP
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: NDP
disease_id: ORPHA:649
disease_name: Norrie disease
Atrophia bulborum hereditaria
Episkopi blindness
Norrie-Warburg disease
gene_symbol: NDP
disease_id: ORPHA:90050
disease_name: Retinopathy of prematurity
ROP
Retrolental fibroplasia
gene_symbol: NDP
disease_id: ORPHA:91495
disease_name: Persistent hyperplastic primary vitreous
Congenital retinal detachment
NCRNA disease
Non-syndromic congenital retinal non-attachment
PFVS
PHPV
Persistent fetal vasculature syndrome
gene_symbol: NDP
disease_id: ORPHA:190
disease_name: Coats disease
Congenital retinal telangiectasia
Leber miliary aneurysm
gene_symbol: DKC1
disease_id: OMIM:305000
disease_name: DYSKERATOSIS CONGENITA, X-LINKED
gene_symbol: DKC1
disease_id: OMIM:301108
disease_name: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1
gene_symbol: DKC1
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: PEX5
disease_id: OMIM:214110
disease_name: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
gene_symbol: PEX5
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX5
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX5
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: ERCC4
disease_id: ORPHA:90321
disease_name: Cockayne syndrome type 1
Cockayne syndrome type I
gene_symbol: ERCC4
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: ERCC4
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: TUBB2B
disease_id: ORPHA:1766
disease_name: Dysequilibrium syndrome
CAMRQ syndrome
Cerebellar ataxia-intellectual disability-dysequilibrium syndrome
Non-progressive cerebellar ataxia-intellectual disability syndrome
UTS
Uner Tan syndrome
gene_symbol: TUBB2B
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: VLDLR
disease_id: ORPHA:1766
disease_name: Dysequilibrium syndrome
CAMRQ syndrome
Cerebellar ataxia-intellectual disability-dysequilibrium syndrome
Non-progressive cerebellar ataxia-intellectual disability syndrome
UTS
Uner Tan syndrome
gene_symbol: VLDLR
disease_id: OMIM:224050
disease_name: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1
gene_symbol: WDR81
disease_id: ORPHA:1766
disease_name: Dysequilibrium syndrome
CAMRQ syndrome
Cerebellar ataxia-intellectual disability-dysequilibrium syndrome
Non-progressive cerebellar ataxia-intellectual disability syndrome
UTS
Uner Tan syndrome
gene_symbol: ATP8A2
disease_id: ORPHA:1766
disease_name: Dysequilibrium syndrome
CAMRQ syndrome
Cerebellar ataxia-intellectual disability-dysequilibrium syndrome
Non-progressive cerebellar ataxia-intellectual disability syndrome
UTS
Uner Tan syndrome
gene_symbol: CA8
disease_id: ORPHA:1766
disease_name: Dysequilibrium syndrome
CAMRQ syndrome
Cerebellar ataxia-intellectual disability-dysequilibrium syndrome
Non-progressive cerebellar ataxia-intellectual disability syndrome
UTS
Uner Tan syndrome
gene_symbol: SREBF1
disease_id: OMIM:158310
disease_name: MUCOEPITHELIAL DYSPLASIA, HEREDITARY
gene_symbol: SREBF1
disease_id: OMIM:619016
disease_name: IFAP SYNDROME 2
gene_symbol: MAN2B1
disease_id: ORPHA:309282
disease_name: Alpha-mannosidosis, infantile form
Lysosomal alpha-D-mannosidase deficiency, infantile form
gene_symbol: MAN2B1
disease_id: ORPHA:309288
disease_name: Alpha-mannosidosis, adult form
Lysosomal alpha-D-mannosidase deficiency, adult form
gene_symbol: MYSM1
disease_id: ORPHA:508542
disease_name: Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
MYSM1 deficiency
gene_symbol: CNGB3
disease_id: OMIM:262300
disease_name: ACHROMATOPSIA 3
gene_symbol: PTEN
disease_id: ORPHA:2969
disease_name: Proteus-like syndrome
gene_symbol: PTEN
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: PTEN
disease_id: OMIM:158350
disease_name: COWDEN SYNDROME 1
gene_symbol: MAX
disease_id: OMIM:620712
disease_name: POLYDACTYLY-MACROCEPHALY SYNDROME
gene_symbol: POMK
disease_id: OMIM:615249
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12
gene_symbol: POMK
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: POMK
disease_id: ORPHA:370959
disease_name: Congenital muscular dystrophy with cerebellar involvement
CMD with cerebellar involvement
CMD-CRB
gene_symbol: MITF
disease_id: OMIM:617306
disease_name: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
gene_symbol: WRN
disease_id: OMIM:277700
disease_name: WERNER SYNDROME
gene_symbol: WRN
disease_id: ORPHA:902
disease_name: Werner syndrome
Adult progeria
WS
gene_symbol: TKT
disease_id: ORPHA:488618
disease_name: Transketolase deficiency
Short stature-developmental delay-congenital heart defect syndrome
TKT deficiency
gene_symbol: PEX1
disease_id: OMIM:214100
disease_name: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
gene_symbol: PEX1
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX1
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX1
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PAX6
disease_id: ORPHA:35737
disease_name: Morning glory disc anomaly
Ectasic coloboma
Morning glory syndrome
gene_symbol: PAX6
disease_id: ORPHA:893
disease_name: WAGR syndrome
Del(11)(p13)
Deletion 11p13
Monosomy 11p13
Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome
gene_symbol: PAX6
disease_id: ORPHA:2253
disease_name: Foveal hypoplasia-presenile cataract syndrome
O'Donnell-Pappas syndrome
gene_symbol: PAX6
disease_id: OMIM:106210
disease_name: ANIRIDIA 1
gene_symbol: PAX6
disease_id: ORPHA:2334
disease_name: Autosomal dominant keratitis
Hereditary keratitis
gene_symbol: PAX6
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: HLA-A
disease_id: ORPHA:179
disease_name: Birdshot chorioretinopathy
Birdshot chorioretinitis
Birdshot retinochoroiditis
Birdshot retinochoroidopathy
Vitiliginous choroiditis
gene_symbol: ATOH7
disease_id: OMIM:221900
disease_name: PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE
gene_symbol: ATOH7
disease_id: ORPHA:91495
disease_name: Persistent hyperplastic primary vitreous
Congenital retinal detachment
NCRNA disease
Non-syndromic congenital retinal non-attachment
PFVS
PHPV
Persistent fetal vasculature syndrome
gene_symbol: KRT71
disease_id: ORPHA:170
disease_name: Woolly hair
Familial woolly hair syndrome
Familial wooly hair syndrome
Hereditary woolly hair syndrome
Hereditary wooly hair syndrome
Wooly hair
gene_symbol: KRT74
disease_id: ORPHA:170
disease_name: Woolly hair
Familial woolly hair syndrome
Familial wooly hair syndrome
Hereditary woolly hair syndrome
Hereditary wooly hair syndrome
Wooly hair
gene_symbol: LIPH
disease_id: ORPHA:170
disease_name: Woolly hair
Familial woolly hair syndrome
Familial wooly hair syndrome
Hereditary woolly hair syndrome
Hereditary wooly hair syndrome
Wooly hair
gene_symbol: LPAR6
disease_id: ORPHA:170
disease_name: Woolly hair
Familial woolly hair syndrome
Familial wooly hair syndrome
Hereditary woolly hair syndrome
Hereditary wooly hair syndrome
Wooly hair
gene_symbol: KRT25
disease_id: ORPHA:170
disease_name: Woolly hair
Familial woolly hair syndrome
Familial wooly hair syndrome
Hereditary woolly hair syndrome
Hereditary wooly hair syndrome
Wooly hair
gene_symbol: ATP11A
disease_id: OMIM:619851
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 24
gene_symbol: ALDH18A1
disease_id: OMIM:616586
disease_name: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
gene_symbol: ALDH18A1
disease_id: OMIM:601162
disease_name: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT
gene_symbol: ALDH18A1
disease_id: ORPHA:35664
disease_name: ALDH18A1-related De Barsy syndrome
Delta-1-pyrroline 5-carboxylate synthetase deficiency
Neurocutaneous syndrome, Bicknell type
P5CS deficiency
gene_symbol: ALDH18A1
disease_id: OMIM:219150
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA
gene_symbol: COL9A2
disease_id: OMIM:614284
disease_name: STICKLER SYNDROME, TYPE V
gene_symbol: COL9A2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL9A2
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: COL9A2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL9A2
disease_id: ORPHA:250984
disease_name: Autosomal recessive Stickler syndrome
gene_symbol: GALM
disease_id: OMIM:618881
disease_name: GALACTOSEMIA IV
gene_symbol: GALM
disease_id: ORPHA:570422
disease_name: Galactose mutarotase deficiency
GALM deficiency
Galactosemia type 4
gene_symbol: GFER
disease_id: OMIM:613076
disease_name: MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT AND DEVELOPMENTAL DELAY
gene_symbol: ZNF408
disease_id: OMIM:616468
disease_name: EXUDATIVE VITREORETINOPATHY 6
gene_symbol: ZNF408
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: BCOR
disease_id: ORPHA:2712
disease_name: Oculofaciocardiodental syndrome
Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome
OFCD syndrome
gene_symbol: BCOR
disease_id: ORPHA:568
disease_name: Microphthalmia, Lenz type
Lenz microphthalmia
gene_symbol: IARS2
disease_id: ORPHA:436174
disease_name: Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
CAGSSS
gene_symbol: IARS2
disease_id: OMIM:616007
disease_name: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
gene_symbol: IARS2
disease_id: ORPHA:506
disease_name: Leigh syndrome
Infantile subacute necrotizing encephalopathy
Leigh disease
gene_symbol: CPAMD8
disease_id: OMIM:617319
disease_name: ANTERIOR SEGMENT DYSGENESIS 8
gene_symbol: RDH11
disease_id: OMIM:616108
disease_name: RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME
gene_symbol: ARL6
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: ARL6
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CCDC28B
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: BBS1
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: BBS1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BRCC3
disease_id: ORPHA:280679
disease_name: Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism
gene_symbol: RP9
disease_id: OMIM:180104
disease_name: RETINITIS PIGMENTOSA 9
gene_symbol: GJA1
disease_id: ORPHA:2710
disease_name: Oculodentodigital dysplasia
Meyer-Schwickerath syndrome
Meyer-Schwickerath-Weyers syndrome
ODDD syndrome
ODOD syndrome
Oculo-dento-digital dysplasia
Oculodentodigital syndrome
Oculodentodigitalis dysplasia
Oculodentoosseous dysplasia
Osseous-oculo-dental dysplasia
gene_symbol: GJA1
disease_id: ORPHA:317
disease_name: Erythrokeratodermia variabilis
EKV
Erythrokeratodermia variabilis, Mendes da Costa type
gene_symbol: GJA1
disease_id: OMIM:164200
disease_name: OCULODENTODIGITAL DYSPLASIA
gene_symbol: GJA1
disease_id: OMIM:257850
disease_name: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE
gene_symbol: TFAP2A
disease_id: OMIM:113620
disease_name: BRANCHIOOCULOFACIAL SYNDROME
gene_symbol: TFAP2A
disease_id: ORPHA:1297
disease_name: Branchio-oculo-facial syndrome
BOFS
gene_symbol: FTL
disease_id: ORPHA:163
disease_name: Hereditary hyperferritinemia-cataract syndrome
HHCS
Hereditary hyperferritinemia with cataracts
Hereditary hyperferritinemia-cataract disease
gene_symbol: FTL
disease_id: ORPHA:254704
disease_name: Genetic hyperferritinemia without iron overload
Benign hyperferritinemia
gene_symbol: FTL
disease_id: OMIM:600886
disease_name: HYPERFERRITINEMIA WITH OR WITHOUT CATARACT
gene_symbol: CAV1
disease_id: OMIM:606721
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7
gene_symbol: SMCHD1
disease_id: OMIM:603457
disease_name: BOSMA ARHINIA MICROPHTHALMIA SYNDROME
gene_symbol: SMCHD1
disease_id: ORPHA:2250
disease_name: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
Bosma arhinia-microphthalmia syndrome
Bosma-Henkin-Christiansen syndrome
gene_symbol: EED
disease_id: OMIM:617561
disease_name: COHEN-GIBSON SYNDROME
gene_symbol: TMEM70
disease_id: OMIM:614052
disease_name: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: P3H2
disease_id: OMIM:614292
disease_name: MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION
gene_symbol: P3H2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: P3H2
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: P3H2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: RRAGC
disease_id: OMIM:620609
disease_name: LONG-OLSEN-DISTELMAIER SYNDROME
gene_symbol: COL2A1
disease_id: ORPHA:90653
disease_name: Stickler syndrome type 1
gene_symbol: COL2A1
disease_id: ORPHA:1856
disease_name: Spondyloperipheral dysplasia-short ulna syndrome
gene_symbol: COL2A1
disease_id: ORPHA:485
disease_name: Kniest dysplasia
gene_symbol: COL2A1
disease_id: OMIM:132450
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS
gene_symbol: COL2A1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL2A1
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: COL2A1
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL2A1
disease_id: OMIM:108300
disease_name: STICKLER SYNDROME, TYPE I
gene_symbol: COL2A1
disease_id: ORPHA:93296
disease_name: Achondrogenesis type 2
Achondrogenesis, Langer-Saldino type
gene_symbol: MAPKAPK5
disease_id: OMIM:619869
disease_name: NEUROCARDIOFACIODIGITAL SYNDROME
gene_symbol: COL11A1
disease_id: ORPHA:90654
disease_name: Stickler syndrome type 2
gene_symbol: COL11A1
disease_id: OMIM:604841
disease_name: STICKLER SYNDROME, TYPE II
gene_symbol: COL11A1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL11A1
disease_id: ORPHA:560
disease_name: Marshall syndrome
gene_symbol: COL11A1
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: COL11A1
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: NF2
disease_id: ORPHA:93921
disease_name: Full schwannomatosis
Full NF3
Full SWN
Full neurofibromatosis type 3
Neurilemmomatosis
Nonmosaic schwannomatosis
gene_symbol: NF2
disease_id: OMIM:101000
disease_name: NEUROFIBROMATOSIS, TYPE II
gene_symbol: SMARCB1
disease_id: ORPHA:93921
disease_name: Full schwannomatosis
Full NF3
Full SWN
Full neurofibromatosis type 3
Neurilemmomatosis
Nonmosaic schwannomatosis
gene_symbol: COQ6
disease_id: ORPHA:93921
disease_name: Full schwannomatosis
Full NF3
Full SWN
Full neurofibromatosis type 3
Neurilemmomatosis
Nonmosaic schwannomatosis
gene_symbol: LZTR1
disease_id: ORPHA:93921
disease_name: Full schwannomatosis
Full NF3
Full SWN
Full neurofibromatosis type 3
Neurilemmomatosis
Nonmosaic schwannomatosis
gene_symbol: CLN3
disease_id: OMIM:204200
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 3
gene_symbol: XYLT2
disease_id: ORPHA:85194
disease_name: Spondylo-ocular syndrome
gene_symbol: XYLT2
disease_id: OMIM:605822
disease_name: SPONDYLOOCULAR SYNDROME
gene_symbol: XYLT2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: XYLT2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: XYLT2
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: XYLT2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: XYLT2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: DNMBP
disease_id: OMIM:618415
disease_name: CATARACT 48
gene_symbol: NR4A2
disease_id: ORPHA:1617
disease_name: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
Del(2)(q24)
Monosomy 2q24
gene_symbol: TBR1
disease_id: ORPHA:1617
disease_name: Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
Del(2)(q24)
Monosomy 2q24
gene_symbol: FLNA
disease_id: ORPHA:90652
disease_name: Otopalatodigital syndrome type 2
OPD II syndrome
OPD syndrome 2
gene_symbol: FLNA
disease_id: OMIM:304120
disease_name: OTOPALATODIGITAL SYNDROME, TYPE II
gene_symbol: ADAMTS10
disease_id: OMIM:277600
disease_name: WEILL-MARCHESANI SYNDROME 1
gene_symbol: ADAMTS10
disease_id: ORPHA:3449
disease_name: Weill-Marchesani syndrome
Spherophakia-brachymorphia syndrome
gene_symbol: LIG4
disease_id: ORPHA:235
disease_name: Dubowitz syndrome
gene_symbol: NSUN2
disease_id: ORPHA:235
disease_name: Dubowitz syndrome
gene_symbol: BBIP1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBIP1
disease_id: OMIM:615995
disease_name: BARDET-BIEDL SYNDROME 18
gene_symbol: CEP290
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CEP290
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: CEP290
disease_id: ORPHA:3156
disease_name: Senior-Loken syndrome
Nephronophthisis with retinal dystrophy
Renal dysplasia-retinal aplasia syndrome
SLSN
gene_symbol: CEP290
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: IFT27
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SCAPER
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: NPHP1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: NPHP1
disease_id: ORPHA:3156
disease_name: Senior-Loken syndrome
Nephronophthisis with retinal dystrophy
Renal dysplasia-retinal aplasia syndrome
SLSN
gene_symbol: WDPCP
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SCLT1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS9
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS9
disease_id: OMIM:615986
disease_name: BARDET-BIEDL SYNDROME 9
gene_symbol: CEP19
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: TRIM32
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: MKS1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: MKS1
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: BBS10
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: TTC8
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT172
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS2
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS4
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: MKKS
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: LZTFL1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS7
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS12
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SDCCAG8
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SDCCAG8
disease_id: ORPHA:3156
disease_name: Senior-Loken syndrome
Nephronophthisis with retinal dystrophy
Renal dysplasia-retinal aplasia syndrome
SLSN
gene_symbol: CFAP418
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CFAP418
disease_id: OMIM:614500
disease_name: CONE-ROD DYSTROPHY 16
gene_symbol: BBS5
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT74
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: NDUFB11
disease_id: OMIM:309801
disease_name: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1
gene_symbol: COX7B
disease_id: OMIM:309801
disease_name: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1
gene_symbol: HCCS
disease_id: OMIM:309801
disease_name: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1
gene_symbol: GSR
disease_id: OMIM:618660
disease_name: HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY
gene_symbol: KCNJ13
disease_id: OMIM:614186
disease_name: LEBER CONGENITAL AMAUROSIS 16
gene_symbol: KCNJ13
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: KCNJ13
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: KCNJ13
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: KCNJ13
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: KCNJ13
disease_id: OMIM:193230
disease_name: VITREORETINAL DEGENERATION, SNOWFLAKE TYPE
gene_symbol: AFF4
disease_id: OMIM:616368
disease_name: CHOPS SYNDROME
gene_symbol: AFF4
disease_id: ORPHA:444077
disease_name: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
CHOPS syndrome
gene_symbol: GALT
disease_id: OMIM:230400
disease_name: GALACTOSEMIA I
gene_symbol: GALT
disease_id: ORPHA:79239
disease_name: Classic galactosemia
GALT deficiency
Galactose-1-phosphate uridyltransferase deficiency
Galactosemia type 1
gene_symbol: ZNF526
disease_id: OMIM:619877
disease_name: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME
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: SKI
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
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: HSPG2
disease_id: OMIM:255800
disease_name: SCHWARTZ-JAMPEL SYNDROME, TYPE 1
gene_symbol: HSPG2
disease_id: OMIM:224410
disease_name: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE
gene_symbol: HSPG2
disease_id: ORPHA:800
disease_name: Schwartz-Jampel syndrome
Aberfeld syndrome
Burton skeletal dysplasia
Burton syndrome
Catel-Hempel syndrome
Dysostosis enchondralis metaepiphysaria, Catel-Hempel type
Myotonic chondrodystrophy
Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
Osteochondromuscular dystrophy
SJS
SJS1
Schwartz-Jampel syndrome type 1
Schwartz-Jampel-Aberfeld syndrome
gene_symbol: 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: ARSL
disease_id: ORPHA:79345
disease_name: Brachytelephalangic chondrodysplasia punctata
gene_symbol: ARSL
disease_id: OMIM:302950
disease_name: CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE
gene_symbol: B3GALNT2
disease_id: ORPHA:588
disease_name: Muscle-eye-brain disease
MEB syndrome
Muscle-eye-brain syndrome
Santavuori congenital muscular dystrophy
gene_symbol: B3GALNT2
disease_id: OMIM:615181
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11
gene_symbol: B3GALNT2
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: FKRP
disease_id: ORPHA:588
disease_name: Muscle-eye-brain disease
MEB syndrome
Muscle-eye-brain syndrome
Santavuori congenital muscular dystrophy
gene_symbol: FKRP
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: FKRP
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: FKRP
disease_id: ORPHA:370959
disease_name: Congenital muscular dystrophy with cerebellar involvement
CMD with cerebellar involvement
CMD-CRB
gene_symbol: FKRP
disease_id: OMIM:613153
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
gene_symbol: LARGE1
disease_id: ORPHA:588
disease_name: Muscle-eye-brain disease
MEB syndrome
Muscle-eye-brain syndrome
Santavuori congenital muscular dystrophy
gene_symbol: LARGE1
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: LARGE1
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: POMT2
disease_id: ORPHA:588
disease_name: Muscle-eye-brain disease
MEB syndrome
Muscle-eye-brain syndrome
Santavuori congenital muscular dystrophy
gene_symbol: POMT2
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: POMT2
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: POMT2
disease_id: ORPHA:370959
disease_name: Congenital muscular dystrophy with cerebellar involvement
CMD with cerebellar involvement
CMD-CRB
gene_symbol: POMT2
disease_id: OMIM:613150
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2
gene_symbol: CRPPA
disease_id: ORPHA:588
disease_name: Muscle-eye-brain disease
MEB syndrome
Muscle-eye-brain syndrome
Santavuori congenital muscular dystrophy
gene_symbol: CRPPA
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: CRPPA
disease_id: OMIM:614643
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
gene_symbol: POMGNT1
disease_id: ORPHA:588
disease_name: Muscle-eye-brain disease
MEB syndrome
Muscle-eye-brain syndrome
Santavuori congenital muscular dystrophy
gene_symbol: POMGNT1
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: POMGNT1
disease_id: ORPHA:370959
disease_name: Congenital muscular dystrophy with cerebellar involvement
CMD with cerebellar involvement
CMD-CRB
gene_symbol: POMGNT1
disease_id: OMIM:253280
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
gene_symbol: POMT1
disease_id: ORPHA:588
disease_name: Muscle-eye-brain disease
MEB syndrome
Muscle-eye-brain syndrome
Santavuori congenital muscular dystrophy
gene_symbol: POMT1
disease_id: OMIM:236670
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1
gene_symbol: POMT1
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: POMT1
disease_id: ORPHA:370959
disease_name: Congenital muscular dystrophy with cerebellar involvement
CMD with cerebellar involvement
CMD-CRB
gene_symbol: ALDOB
disease_id: ORPHA:469
disease_name: Hereditary fructose intolerance
Hereditary fructose-1-phosphate aldolase deficiency
Hereditary fructosemia
gene_symbol: ALG2
disease_id: ORPHA:79326
disease_name: ALG2-CDG
CDG syndrome type Ii
CDG-Ii
CDG1I
Carbohydrate deficient glycoprotein syndrome type Ii
Congenital disorder of glycosylation type 1i
Congenital disorder of glycosylation type Ii
Mannosyltransferase 2 deficiency
gene_symbol: ALG2
disease_id: OMIM:607906
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii
gene_symbol: SUMF1
disease_id: ORPHA:585
disease_name: Multiple sulfatase deficiency
Austin disease
MSD
Mucosulfatidosis
gene_symbol: IKBKG
disease_id: ORPHA:464
disease_name: Incontinentia pigmenti
Bloch-Siemens syndrome
Bloch-Sulzberger syndrome
gene_symbol: IKBKG
disease_id: OMIM:308300
disease_name: INCONTINENTIA PIGMENTI
gene_symbol: ATAD3A
disease_id: ORPHA:496790
disease_name: Ocular anomalies-axonal neuropathy-developmental delay syndrome
Harel-Yoon syndrome
gene_symbol: MAP2K2
disease_id: OMIM:615280
disease_name: CARDIOFACIOCUTANEOUS SYNDROME 4
gene_symbol: RALGAPA1
disease_id: OMIM:618797
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION
gene_symbol: FDXR
disease_id: ORPHA:543470
disease_name: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
gene_symbol: LAMB2
disease_id: OMIM:614199
disease_name: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES
gene_symbol: LAMB2
disease_id: OMIM:609049
disease_name: PIERSON SYNDROME
gene_symbol: LAMB2
disease_id: ORPHA:2670
disease_name: Pierson syndrome
Microcoria-congenital nephrosis syndrome
gene_symbol: MIPEP
disease_id: OMIM:617228
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31
gene_symbol: RPE65
disease_id: OMIM:204100
disease_name: LEBER CONGENITAL AMAUROSIS 2
gene_symbol: RPE65
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: MINPP1
disease_id: OMIM:619527
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 16
gene_symbol: ABCA12
disease_id: ORPHA:457
disease_name: Harlequin ichthyosis
Autosomal congenital ichthyosis, Harlequin type
HI
Ichthyosis congenita, Harlequin type
gene_symbol: PMM2
disease_id: ORPHA:79318
disease_name: PMM2-CDG
CDG syndrome type Ia
CDG-Ia
CDG1A
Carbohydrate deficient glycoprotein syndrome type Ia
Congenital disorder of glycosylation type 1a
Congenital disorder of glycosylation type Ia
Phosphomannomutase 2 deficiency
gene_symbol: PTCH1
disease_id: ORPHA:377
disease_name: Gorlin syndrome
Basal cell nevus syndrome
Gorlin-Goltz syndrome
NBCCS
Nevoid basal cell carcinoma syndrome
gene_symbol: PTCH1
disease_id: OMIM:109400
disease_name: BASAL CELL NEVUS SYNDROME
gene_symbol: PTCH1
disease_id: ORPHA:77301
disease_name: Monosomy 9q22.3 syndrome
Microdeletion 9q22.3
gene_symbol: PTCH2
disease_id: ORPHA:377
disease_name: Gorlin syndrome
Basal cell nevus syndrome
Gorlin-Goltz syndrome
NBCCS
Nevoid basal cell carcinoma syndrome
gene_symbol: SUFU
disease_id: ORPHA:377
disease_name: Gorlin syndrome
Basal cell nevus syndrome
Gorlin-Goltz syndrome
NBCCS
Nevoid basal cell carcinoma syndrome
gene_symbol: EPG5
disease_id: OMIM:242840
disease_name: VICI SYNDROME
gene_symbol: EPG5
disease_id: ORPHA:1493
disease_name: Vici syndrome
Corpus callosum agenesis-cataract-immunodeficiency syndrome
Dionisi-Vici-Sabetta-Gambarara syndrome
gene_symbol: NAXD
disease_id: OMIM:618321
disease_name: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2
gene_symbol: AIRE
disease_id: OMIM:240300
disease_name: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA
gene_symbol: AIRE
disease_id: ORPHA:3453
disease_name: Autoimmune polyendocrinopathy type 1
APECED syndrome
APS type 1
APS1
Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome
Autoimmune polyendocrine syndrome type 1
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome
Autoimmune polyglandular syndrome type 1
HAM syndrome
Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome
MEDAC syndrome
Multiple endocrine deficiency-Addison disease-candidiasis syndrome
gene_symbol: PRR12
disease_id: OMIM:619539
disease_name: NEUROOCULAR SYNDROME 1
gene_symbol: PTH
disease_id: OMIM:146200
disease_name: HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 1
gene_symbol: FOXC2
disease_id: ORPHA:33001
disease_name: Lymphedema-distichiasis syndrome
gene_symbol: FLNB
disease_id: OMIM:272460
disease_name: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
gene_symbol: ALG3
disease_id: ORPHA:79321
disease_name: ALG3-CDG
CDG syndrome type Id
CDG-Id
CDG1D
Carbohydrate deficient glycoprotein syndrome type Id
Congenital disorder of glycosylation type 1d
Congenital disorder of glycosylation type Id
Mannosyltransferase 6 deficiency
gene_symbol: NOD2
disease_id: ORPHA:90340
disease_name: Blau syndrome
gene_symbol: NOD2
disease_id: OMIM:186580
disease_name: BLAU SYNDROME
gene_symbol: GNAS
disease_id: ORPHA:79443
disease_name: Pseudohypoparathyroidism type 1A
AHO-PHP syndrome Ia
Albright hereditary osteodystrophy-PHP syndrome Ia
gene_symbol: GNAS
disease_id: ORPHA:79444
disease_name: Pseudohypoparathyroidism type 1C
gene_symbol: GNAS
disease_id: ORPHA:94089
disease_name: Pseudohypoparathyroidism type 1B
gene_symbol: GNAS
disease_id: OMIM:612463
disease_name: PSEUDOPSEUDOHYPOPARATHYROIDISM
gene_symbol: GNAS
disease_id: OMIM:612462
disease_name: PSEUDOHYPOPARATHYROIDISM, TYPE IC
gene_symbol: GNAS
disease_id: OMIM:103580
disease_name: PSEUDOHYPOPARATHYROIDISM, TYPE IA
gene_symbol: PHF6
disease_id: ORPHA:127
disease_name: Borjeson-Forssman-Lehmann syndrome
BFLS
Intellectual disability-epilepsy-endocrine disorders syndrome
gene_symbol: ALG8
disease_id: ORPHA:79325
disease_name: ALG8-CDG
CDG syndrome type Ih
CDG-Ih
CDG1H
Carbohydrate deficient glycoprotein syndrome type Ih
Congenital disorder of glycosylation type 1h
Congenital disorder of glycosylation type Ih
Glucosyltransferase 2 deficiency
gene_symbol: FIG4
disease_id: OMIM:216340
disease_name: YUNIS-VARON SYNDROME
gene_symbol: FIG4
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: ALX3
disease_id: OMIM:136760
disease_name: FRONTONASAL DYSPLASIA 1
gene_symbol: ALX3
disease_id: ORPHA:391474
disease_name: Frontorhiny
ALX3-related frontonasal dysplasia
Frontonasal dysplasia type 1
Isolated median cleft face syndrome
gene_symbol: SMPX
disease_id: OMIM:301075
disease_name: MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED
gene_symbol: CRYAB
disease_id: OMIM:615184
disease_name: CARDIOMYOPATHY, DILATED, 1II
gene_symbol: GTF2H5
disease_id: OMIM:616395
disease_name: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE
gene_symbol: CREBBP
disease_id: OMIM:618332
disease_name: MENKE-HENNEKAM SYNDROME 1
gene_symbol: CREBBP
disease_id: ORPHA:353281
disease_name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
gene_symbol: CREBBP
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: CREBBP
disease_id: ORPHA:353277
disease_name: Rubinstein-Taybi syndrome due to CREBBP mutations
gene_symbol: IFT140
disease_id: OMIM:266920
disease_name: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
gene_symbol: IFT140
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: CLPB
disease_id: OMIM:616271
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII
gene_symbol: CLPB
disease_id: ORPHA:445038
disease_name: 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
3-methylglutaconic aciduria type 7
MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
MGA7
gene_symbol: CLPB
disease_id: OMIM:619813
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT
gene_symbol: PRUNE1
disease_id: OMIM:617481
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
gene_symbol: PRUNE1
disease_id: ORPHA:544469
disease_name: PRUNE1-related neurological syndrome
gene_symbol: LIG3
disease_id: OMIM:619780
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE)
gene_symbol: INTS1
disease_id: OMIM:618571
disease_name: NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES
gene_symbol: LOXL3
disease_id: OMIM:619781
disease_name: MYOPIA 28, AUTOSOMAL RECESSIVE
gene_symbol: LOXL3
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: LOXL3
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: LOXL3
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: LOXL3
disease_id: ORPHA:250984
disease_name: Autosomal recessive Stickler syndrome
gene_symbol: RAB3GAP1
disease_id: OMIM:619420
disease_name: MARTSOLF SYNDROME 2
gene_symbol: RAB3GAP1
disease_id: ORPHA:1387
disease_name: Cataract-intellectual disability-hypogonadism syndrome
Martsolf syndrome
gene_symbol: RAB3GAP1
disease_id: ORPHA:2510
disease_name: Micro syndrome
WARBM
Warburg micro syndrome
gene_symbol: FAR1
disease_id: OMIM:616154
disease_name: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER
gene_symbol: FAR1
disease_id: OMIM:619338
disease_name: CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY
gene_symbol: GUCY2D
disease_id: OMIM:204000
disease_name: LEBER CONGENITAL AMAUROSIS 1
gene_symbol: GUCY2D
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: PSAT1
disease_id: OMIM:616038
disease_name: NEU-LAXOVA SYNDROME 2
gene_symbol: HTRA2
disease_id: OMIM:617248
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
gene_symbol: RAP1B
disease_id: OMIM:620654
disease_name: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES
gene_symbol: GALE
disease_id: OMIM:620776
disease_name: THROMBOCYTOPENIA 13, SYNDROMIC
gene_symbol: MYMK
disease_id: OMIM:254940
disease_name: CAREY-FINEMAN-ZITER SYNDROME
gene_symbol: IL23R
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: STAT4
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: STAT4
disease_id: ORPHA:85410
disease_name: Oligoarticular juvenile idiopathic arthritis
Oligoarticular JIA
Pauciarticular chronic arthritis
gene_symbol: IL10
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: MEFV
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: CCR1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: FAS
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: FAS
disease_id: ORPHA:3437
disease_name: Vogt-Koyanagi-Harada disease
Uveomenigitic syndrome
gene_symbol: IL12A
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IL12A-AS1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: HLA-B
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: TLR4
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IFNGR1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: C4A
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: UBAC2
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: ERAP1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: KLRC4
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: AMMECR1
disease_id: OMIM:300990
disease_name: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
gene_symbol: SLC25A4
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: SLC25A4
disease_id: ORPHA:1369
disease_name: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Sengers syndrome
gene_symbol: SLC25A4
disease_id: OMIM:615418
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE
gene_symbol: POLG
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: POLG
disease_id: OMIM:157640
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1
gene_symbol: POLG
disease_id: OMIM:607459
disease_name: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
gene_symbol: POLG
disease_id: ORPHA:70595
disease_name: Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
SANDO
gene_symbol: TWNK
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: TWNK
disease_id: OMIM:609286
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3
gene_symbol: TWNK
disease_id: OMIM:607459
disease_name: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
gene_symbol: TWNK
disease_id: ORPHA:70595
disease_name: Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
SANDO
gene_symbol: POLG2
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: RRM2B
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: RRM2B
disease_id: OMIM:268315
disease_name: ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION
gene_symbol: LONP1
disease_id: OMIM:600373
disease_name: CODAS SYNDROME
gene_symbol: LONP1
disease_id: ORPHA:1458
disease_name: CODAS syndrome
Cerebrooculodentoauriculoskeletal syndrome
gene_symbol: LAMB1
disease_id: OMIM:615191
disease_name: LISSENCEPHALY 5
gene_symbol: PEX3
disease_id: OMIM:617370
disease_name: PEROXISOME BIOGENESIS DISORDER 10B
gene_symbol: PEX3
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX3
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX3
disease_id: OMIM:614882
disease_name: PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)
gene_symbol: PEX3
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PRKAG2
disease_id: OMIM:261740
disease_name: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
gene_symbol: DYRK1A
disease_id: ORPHA:268261
disease_name: DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
21q22.13q22.2 microdeletion syndrome
Del(21)(q22.13q22.2)
Monosomy 21q22.13q22.2
gene_symbol: MVK
disease_id: ORPHA:29
disease_name: Mevalonic aciduria
Complete mevalonate kinase deficiency
MVA
gene_symbol: MVK
disease_id: OMIM:610377
disease_name: MEVALONIC ACIDURIA
gene_symbol: DHX38
disease_id: OMIM:618220
disease_name: RETINITIS PIGMENTOSA 84
gene_symbol: TMTC3
disease_id: OMIM:617255
disease_name: LISSENCEPHALY 8
gene_symbol: UBA5
disease_id: OMIM:617133
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24
gene_symbol: APOA1
disease_id: OMIM:618463
disease_name: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2
gene_symbol: NOP10
disease_id: OMIM:620425
disease_name: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 2
gene_symbol: NOP10
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: DPAGT1
disease_id: OMIM:608093
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij
gene_symbol: FOSL2
disease_id: OMIM:620789
disease_name: APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME
gene_symbol: PITX3
disease_id: OMIM:610623
disease_name: CATARACT 11, MULTIPLE TYPES
gene_symbol: STX16
disease_id: ORPHA:94089
disease_name: Pseudohypoparathyroidism type 1B
gene_symbol: DAG1
disease_id: ORPHA:370997
disease_name: Muscle-eye-brain disease with bilateral multicystic leucodystrophy
MEB disease with bilateral multicystic leucodystrophy
gene_symbol: DAG1
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: DAG1
disease_id: OMIM:616538
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9
gene_symbol: PLK4
disease_id: OMIM:616171
disease_name: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2
gene_symbol: COL7A1
disease_id: OMIM:226600
disease_name: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE
gene_symbol: TRIM44
disease_id: OMIM:617142
disease_name: ANIRIDIA 3
gene_symbol: TRIM44
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: ELP4
disease_id: OMIM:617141
disease_name: ANIRIDIA 2
gene_symbol: PAH
disease_id: OMIM:261600
disease_name: PHENYLKETONURIA
gene_symbol: PAH
disease_id: ORPHA:79254
disease_name: Classic phenylketonuria
Classic PKU
gene_symbol: EP300
disease_id: ORPHA:353284
disease_name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
gene_symbol: EP300
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: FGF5
disease_id: OMIM:190330
disease_name: TRICHOMEGALY
gene_symbol: BMP1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: BMP1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SERPINF1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SERPINF1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: COL1A2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: COL1A2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: NBAS
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: NBAS
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: MESD
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: MESD
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: MIA3
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: MIA3
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: KIF5B
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: KIF5B
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: PHLDB1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PHLDB1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: CREB3L1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: CREB3L1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: P4HB
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: P4HB
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: EMILIN1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: COL1A1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: COL1A1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: WNT11
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: WNT11
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SLC10A7
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SLC10A7
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SPARC
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SPARC
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SEC16B
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SEC16B
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SEC24D
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SEC24D
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: PLOD2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PLOD2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: P3H1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: P3H1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: ALPL
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: ALPL
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: P4HA1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: P4HA1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SERPINH1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SERPINH1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: PLOD3
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PLOD3
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: PLOD3
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: PLOD3
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: PLOD3
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: IFITM5
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: IFITM5
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: CCDC134
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: CCDC134
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: CRTAP
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: CRTAP
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: PLS3
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PLS3
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: B3GAT3
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: B3GAT3
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: B4GALT7
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: B4GALT7
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: TENT5A
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: TENT5A
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: GORAB
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: GORAB
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: TAPT1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: TAPT1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SGMS2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SGMS2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: FKBP10
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: FKBP10
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: XYLT1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: XYLT1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: COPB2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: COPB2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SP7
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: SP7
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: AMBN
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: AMBN
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: KDELR2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: KDELR2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: LIFR
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: LIFR
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: DSPP
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: DSPP
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: TMEM38B
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: TMEM38B
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: WNT1
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: WNT1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: B3GALT6
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: B3GALT6
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: MBTPS2
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: MBTPS2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: CHST3
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: CHST3
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: LRP5
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: LRP5
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: LRP5
disease_id: ORPHA:90050
disease_name: Retinopathy of prematurity
ROP
Retrolental fibroplasia
gene_symbol: LRP5
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: PPIB
disease_id: OMIM:259770
disease_name: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
gene_symbol: PPIB
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: POLR1A
disease_id: OMIM:620675
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 27
gene_symbol: EIF2B2
disease_id: OMIM:620312
disease_name: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 2
gene_symbol: ERCC2
disease_id: OMIM:610756
disease_name: CEREBROOCULOFACIOSKELETAL SYNDROME 2
gene_symbol: ERCC2
disease_id: OMIM:601675
disease_name: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE
gene_symbol: ERCC2
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC2
disease_id: ORPHA:1466
disease_name: COFS syndrome
Cerebrooculofacioskeletal syndrome
Pena-Shokeir syndrome type 2
gene_symbol: ERCC2
disease_id: OMIM:278730
disease_name: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D
gene_symbol: DMPK
disease_id: OMIM:160900
disease_name: MYOTONIC DYSTROPHY 1
gene_symbol: DMPK
disease_id: ORPHA:589821
disease_name: Congenital-onset Steinert myotonic dystrophy
Congenital-onset Steinert disease
Congenital-onset myotonic dystrophy type 1
gene_symbol: OCRL
disease_id: ORPHA:534
disease_name: Oculocerebrorenal syndrome of Lowe
Lowe disease
Lowe oculo-cerebro-renal dystrophy
Lowe oculo-cerebro-renal syndrome
Lowe oculocerebrorenal dystrophy
Lowe syndrome
OCRL
Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency
gene_symbol: POMGNT2
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: COL4A1
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: RXYLT1
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: B4GAT1
disease_id: ORPHA:899
disease_name: Walker-Warburg syndrome
HARD syndrome
Hydrocephalus-agyria-retinal dysplasia syndrome
WWS
gene_symbol: OAT
disease_id: ORPHA:414
disease_name: Gyrate atrophy of choroid and retina
HOGA
Hyperornithinemia
Hyperornithinemia-gyrate atrophy of choroid and retina syndrome
Ornithine aminotransferase deficiency
gene_symbol: DSG4
disease_id: ORPHA:573
disease_name: Monilethrix
Moniliform hair syndrome
gene_symbol: KRT86
disease_id: ORPHA:573
disease_name: Monilethrix
Moniliform hair syndrome
gene_symbol: KRT83
disease_id: ORPHA:573
disease_name: Monilethrix
Moniliform hair syndrome
gene_symbol: KRT81
disease_id: ORPHA:573
disease_name: Monilethrix
Moniliform hair syndrome
gene_symbol: DNM1L
disease_id: ORPHA:98673
disease_name: Autosomal dominant optic atrophy, classic form
Autosomal dominant optic atrophy, Kjer type
Kjer optic atrophy
Optic atrophy type 1
gene_symbol: OPA1
disease_id: ORPHA:98673
disease_name: Autosomal dominant optic atrophy, classic form
Autosomal dominant optic atrophy, Kjer type
Kjer optic atrophy
Optic atrophy type 1
gene_symbol: FLVCR1
disease_id: ORPHA:88628
disease_name: Posterior column ataxia-retinitis pigmentosa syndrome
Autosomal recessive posterior column ataxia and retinitis pigmentosa
PCARP
gene_symbol: FLVCR1
disease_id: OMIM:609033
disease_name: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
gene_symbol: ZNF335
disease_id: OMIM:615095
disease_name: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: NACC1
disease_id: OMIM:617393
disease_name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION
gene_symbol: LMBRD2
disease_id: OMIM:619694
disease_name: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES
gene_symbol: KCNH1
disease_id: OMIM:135500
disease_name: ZIMMERMANN-LABAND SYNDROME 1
gene_symbol: KCNH1
disease_id: ORPHA:3473
disease_name: Zimmermann-Laband syndrome
Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome
Laband syndrome
gene_symbol: MED11
disease_id: OMIM:620327
disease_name: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES
gene_symbol: CHRDL1
disease_id: OMIM:309300
disease_name: MEGALOCORNEA
gene_symbol: RP2
disease_id: OMIM:312600
disease_name: RETINITIS PIGMENTOSA 2
gene_symbol: COMT
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: JMJD1C
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: GP1BB
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: RREB1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: TBX1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: HIRA
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: SEC24C
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: UFD1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: ARVCF
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: AGK
disease_id: OMIM:212350
disease_name: SENGERS SYNDROME
gene_symbol: AGK
disease_id: ORPHA:1369
disease_name: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Sengers syndrome
gene_symbol: GLA
disease_id: ORPHA:324
disease_name: Fabry disease
Alpha-galactosidase A deficiency
Anderson-Fabry disease
FD
gene_symbol: CDH11
disease_id: OMIM:211380
disease_name: ELSAHY-WATERS SYNDROME
gene_symbol: NAA10
disease_id: ORPHA:568
disease_name: Microphthalmia, Lenz type
Lenz microphthalmia
gene_symbol: ASPH
disease_id: OMIM:601552
disease_name: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS
gene_symbol: ASPH
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SEC23B
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SDHB
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SDHD
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SDHC
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: AKT1
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: AKT1
disease_id: ORPHA:744
disease_name: Proteus syndrome
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
gene_symbol: AKT1
disease_id: OMIM:615109
disease_name: COWDEN SYNDROME 6
gene_symbol: USF3
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: PIK3CA
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: PIK3CA
disease_id: OMIM:615108
disease_name: COWDEN SYNDROME 5
gene_symbol: KLLN
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: TMEM107
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: TCTN3
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: TCTN2
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: B9D2
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: TCTN1
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: RPGRIP1
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: RPGRIP1
disease_id: OMIM:613826
disease_name: LEBER CONGENITAL AMAUROSIS 6
gene_symbol: RPGRIP1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: CSPP1
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: TMEM216
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: CC2D2A
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: CC2D2A
disease_id: OMIM:612285
disease_name: JOUBERT SYNDROME 9
gene_symbol: TMEM231
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: TMEM67
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: TXNDC15
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: B9D1
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: RPGRIP1L
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: TMEM237
disease_id: ORPHA:564
disease_name: Meckel syndrome
Dysencephalia splanchnocystica
Meckel-Gruber syndrome
gene_symbol: B4GALNT1
disease_id: ORPHA:101006
disease_name: Autosomal recessive spastic paraplegia type 26
GM2 synthase deficiency
SPG26
gene_symbol: NR2E3
disease_id: OMIM:268100
disease_name: ENHANCED S-CONE SYNDROME
gene_symbol: SLC26A2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: SLC26A2
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: SLC26A2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: VCAN
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: VCAN
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: VCAN
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: GZF1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: GZF1
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: GZF1
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL9A1
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL9A1
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: COL9A1
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL9A1
disease_id: ORPHA:250984
disease_name: Autosomal recessive Stickler syndrome
gene_symbol: COL9A1
disease_id: OMIM:614134
disease_name: STICKLER SYNDROME, TYPE IV
gene_symbol: COL9A3
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL9A3
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: COL9A3
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL9A3
disease_id: ORPHA:250984
disease_name: Autosomal recessive Stickler syndrome
gene_symbol: COL11A2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: COL11A2
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: COL11A2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: COL11A2
disease_id: ORPHA:1427
disease_name: Autosomal recessive otospondylomegaepiphyseal dysplasia
OSMED
gene_symbol: LRP2
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: LRP2
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: LRP2
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: LRP2
disease_id: OMIM:222448
disease_name: DONNAI-BARROW SYNDROME
gene_symbol: BMP4
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: BMP4
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: BMP4
disease_id: ORPHA:828
disease_name: Stickler syndrome
Hereditary progressive arthroophthalmopathy
gene_symbol: BMP4
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: BMP4
disease_id: ORPHA:139471
disease_name: Microphthalmia with brain and digit anomalies
Bakrania-Ragge syndrome
MCOPS6
Syndromic microphthalmia type 6
gene_symbol: SLITRK6
disease_id: OMIM:156550
disease_name: KNIEST DYSPLASIA
gene_symbol: SLITRK6
disease_id: OMIM:143200
disease_name: WAGNER VITREORETINOPATHY
gene_symbol: SLITRK6
disease_id: OMIM:154780
disease_name: MARSHALL SYNDROME
gene_symbol: ARCN1
disease_id: OMIM:617164
disease_name: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY
gene_symbol: RNF13
disease_id: OMIM:618379
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73
gene_symbol: RNF13
disease_id: ORPHA:544503
disease_name: RNF13-related severe early-onset epileptic encephalopathy
RNF13-related severe EOEE
gene_symbol: ERCC3
disease_id: OMIM:610651
disease_name: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B
gene_symbol: ERCC3
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: SRD5A3
disease_id: OMIM:612713
disease_name: KAHRIZI SYNDROME
gene_symbol: SRD5A3
disease_id: ORPHA:324737
disease_name: SRD5A3-CDG
CDG syndrome type Iq
CDG-Iq
CDG1Q
Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type Iq
gene_symbol: SRD5A3
disease_id: OMIM:612379
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq
gene_symbol: GJB3
disease_id: ORPHA:317
disease_name: Erythrokeratodermia variabilis
EKV
Erythrokeratodermia variabilis, Mendes da Costa type
gene_symbol: KDSR
disease_id: ORPHA:317
disease_name: Erythrokeratodermia variabilis
EKV
Erythrokeratodermia variabilis, Mendes da Costa type
gene_symbol: GJB4
disease_id: ORPHA:317
disease_name: Erythrokeratodermia variabilis
EKV
Erythrokeratodermia variabilis, Mendes da Costa type
gene_symbol: SIX6
disease_id: OMIM:206900
disease_name: MICROPHTHALMIA, SYNDROMIC 3
gene_symbol: SIX6
disease_id: OMIM:212550
disease_name: OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY
gene_symbol: SOX2
disease_id: OMIM:206900
disease_name: MICROPHTHALMIA, SYNDROMIC 3
gene_symbol: SALL2
disease_id: OMIM:216820
disease_name: COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE
gene_symbol: PDE6B
disease_id: OMIM:613801
disease_name: RETINITIS PIGMENTOSA 40
gene_symbol: SIL1
disease_id: ORPHA:559
disease_name: Marinesco-Sjögren syndrome
gene_symbol: BTNL2
disease_id: ORPHA:797
disease_name: Sarcoidosis
Besnier-Boeck-Schaumann disease
Boeck sarcoid
gene_symbol: HLA-DRB1
disease_id: ORPHA:797
disease_name: Sarcoidosis
Besnier-Boeck-Schaumann disease
Boeck sarcoid
gene_symbol: HLA-DRB1
disease_id: ORPHA:3437
disease_name: Vogt-Koyanagi-Harada disease
Uveomenigitic syndrome
gene_symbol: B3GLCT
disease_id: OMIM:261540
disease_name: PETERS-PLUS SYNDROME
gene_symbol: B3GLCT
disease_id: ORPHA:709
disease_name: Peters plus syndrome
Krause-Kivlin syndrome
Krause-van Schooneveld-Kivlin syndrome
Peters anomaly with short limb dwarfism
gene_symbol: SPTBN1
disease_id: OMIM:619475
disease_name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
gene_symbol: COL4A4
disease_id: OMIM:203780
disease_name: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
gene_symbol: SLC2A1
disease_id: ORPHA:168577
disease_name: Hereditary cryohydrocytosis with reduced stomatin
CHC type 2
Hereditary cryohydrocytosis type 2
Stomatin-deficient cryohydrocytosis
sdCHC
gene_symbol: SLC2A1
disease_id: OMIM:608885
disease_name: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS
gene_symbol: YAP1
disease_id: OMIM:120433
disease_name: COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION
gene_symbol: YAP1
disease_id: ORPHA:1473
disease_name: Uveal coloboma-cleft lip and palate-intellectual disability
gene_symbol: NHS
disease_id: ORPHA:627
disease_name: Nance-Horan syndrome
gene_symbol: RNH1
disease_id: OMIM:620461
disease_name: ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12
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: ATP6V1B2
disease_id: ORPHA:3473
disease_name: Zimmermann-Laband syndrome
Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome
Laband 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: TBC1D24
disease_id: OMIM:220500
disease_name: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME
gene_symbol: CRYBA2
disease_id: OMIM:115900
disease_name: CATARACT 42
gene_symbol: ABCD1
disease_id: ORPHA:369942
disease_name: CADDS
Contiguous ABCD1 DXS1357E deletion syndrome
Zellweger-like contiguous gene deletion syndrome
gene_symbol: BCAP31
disease_id: ORPHA:369942
disease_name: CADDS
Contiguous ABCD1 DXS1357E deletion syndrome
Zellweger-like contiguous gene deletion syndrome
gene_symbol: MBTPS1
disease_id: OMIM:618392
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE
gene_symbol: COG4
disease_id: OMIM:618150
disease_name: SAUL-WILSON SYNDROME
gene_symbol: COG4
disease_id: ORPHA:85172
disease_name: Microcephalic osteodysplastic dysplasia, Saul-Wilson type
gene_symbol: EBP
disease_id: OMIM:300960
disease_name: MEND SYNDROME
gene_symbol: EBP
disease_id: ORPHA:401973
disease_name: MEND syndrome
Male EBP disorder with neurological defects
gene_symbol: EBP
disease_id: ORPHA:35173
disease_name: X-linked dominant chondrodysplasia punctata
CDPX2
CDPXD
CPXD
Chondrodystrophia calcificans congenita
Conradi-Hünermann-Happle syndrome
X-linked chondrodysplasia punctata type 2
gene_symbol: EBP
disease_id: OMIM:302960
disease_name: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT
gene_symbol: POLR1B
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: POLR1C
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: POLR1D
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: TCOF1
disease_id: ORPHA:861
disease_name: Treacher-Collins syndrome
Franceschetti-Klein syndrome
Mandibulofacial dysostosis without limb anomalies
gene_symbol: USP9X
disease_id: OMIM:300968
disease_name: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED
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: SHROOM4
disease_id: ORPHA:85288
disease_name: X-linked intellectual disability, Stocco Dos Santos type
gene_symbol: GBA2
disease_id: ORPHA:320391
disease_name: Autosomal recessive spastic paraplegia type 46
SPG46
gene_symbol: GBA2
disease_id: OMIM:614409
disease_name: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
gene_symbol: SALL1
disease_id: ORPHA:857
disease_name: Townes-Brocks syndrome
Imperforate anus-hand, foot and ear anomalies syndrome
REAR syndrome
Renal-ear-anal-radial syndrome
Sensorineural deafness with imperforate anus and hypoplastic thumbs
Sensorineural hearing loss with imperforate anus and hypoplastic thumbs
TBS
Townes syndrome
gene_symbol: DACT1
disease_id: ORPHA:857
disease_name: Townes-Brocks syndrome
Imperforate anus-hand, foot and ear anomalies syndrome
REAR syndrome
Renal-ear-anal-radial syndrome
Sensorineural deafness with imperforate anus and hypoplastic thumbs
Sensorineural hearing loss with imperforate anus and hypoplastic thumbs
TBS
Townes syndrome
gene_symbol: 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: CRX
disease_id: OMIM:613829
disease_name: LEBER CONGENITAL AMAUROSIS 7
gene_symbol: CRX
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: PEX26
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX26
disease_id: OMIM:614872
disease_name: PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)
gene_symbol: PEX26
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX26
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX19
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX19
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX19
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX2
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX2
disease_id: OMIM:614866
disease_name: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
gene_symbol: PEX2
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX2
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX16
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX16
disease_id: OMIM:614877
disease_name: PEROXISOME BIOGENESIS DISORDER 8B
gene_symbol: PEX16
disease_id: OMIM:614876
disease_name: PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER)
gene_symbol: PEX16
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX16
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX6
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX6
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX6
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX11B
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX11B
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX11B
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX12
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX12
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX12
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX13
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX13
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX13
disease_id: OMIM:614885
disease_name: PEROXISOME BIOGENESIS DISORDER 11B
gene_symbol: PEX13
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX14
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX14
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX14
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: PEX10
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX10
disease_id: ORPHA:44
disease_name: Neonatal adrenoleukodystrophy
Intermediate PBD-ZSD
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
NALD
gene_symbol: PEX10
disease_id: ORPHA:912
disease_name: Zellweger syndrome
Cerebrohepatorenal syndrome
Severe PBD-ZSD
Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ZS
gene_symbol: WT1
disease_id: ORPHA:893
disease_name: WAGR syndrome
Del(11)(p13)
Deletion 11p13
Monosomy 11p13
Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome
gene_symbol: WT1
disease_id: OMIM:106210
disease_name: ANIRIDIA 1
gene_symbol: BDNF
disease_id: ORPHA:893
disease_name: WAGR syndrome
Del(11)(p13)
Deletion 11p13
Monosomy 11p13
Wilms tumor-aniridia-genitourinary anomalies-intellectual disability 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: PHYH
disease_id: OMIM:266500
disease_name: REFSUM DISEASE, CLASSIC
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: PEX7
disease_id: OMIM:614879
disease_name: PEROXISOME BIOGENESIS DISORDER 9B
gene_symbol: PEX7
disease_id: OMIM:266500
disease_name: REFSUM DISEASE, CLASSIC
gene_symbol: CTNNB1
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: CTNNB1
disease_id: ORPHA:2780
disease_name: Osteopathia striata-cranial sclerosis syndrome
Hyperostosis generalisata with striations
Robinow-Unger syndrome
gene_symbol: TSPAN12
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: FZD4
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: FZD4
disease_id: ORPHA:90050
disease_name: Retinopathy of prematurity
ROP
Retrolental fibroplasia
gene_symbol: FZD4
disease_id: ORPHA:91495
disease_name: Persistent hyperplastic primary vitreous
Congenital retinal detachment
NCRNA disease
Non-syndromic congenital retinal non-attachment
PFVS
PHPV
Persistent fetal vasculature syndrome
gene_symbol: ZBTB20
disease_id: ORPHA:3042
disease_name: Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
Primrose syndrome
gene_symbol: PQBP1
disease_id: OMIM:309500
disease_name: RENPENNING SYNDROME 1
gene_symbol: COPB1
disease_id: OMIM:619255
disease_name: BARALLE-MACKEN SYNDROME
gene_symbol: KANSL1
disease_id: OMIM:610443
disease_name: KOOLEN-DE VRIES SYNDROME
gene_symbol: PRIM1
disease_id: OMIM:620005
disease_name: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
gene_symbol: CRB1
disease_id: OMIM:613835
disease_name: LEBER CONGENITAL AMAUROSIS 8
gene_symbol: CRB1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: BCKDK
disease_id: OMIM:614923
disease_name: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY
gene_symbol: FH
disease_id: ORPHA:523
disease_name: Hereditary leiomyomatosis and renal cell cancer
Familial leiomyomatosis and renal cell cancer
Familial leiomyomatosis cutis et uteri
Familial leiomyomatosis with renal carcinoma
Familial multiple cutaneous leiomyomas
HLRCC
Hereditary leiomyomatosis
Hereditary leiomyomatosis with renal carcinoma
Hereditary multiple cutaneous leiomyomas
MCUL
Multiple cutaneous and uterine leiomyomas
Reed syndrome
gene_symbol: PAX2
disease_id: OMIM:120330
disease_name: PAPILLORENAL SYNDROME
gene_symbol: NMNAT1
disease_id: OMIM:619260
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS
gene_symbol: NMNAT1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: SMG8
disease_id: OMIM:619268
disease_name: ALZAHRANI-KUWAHARA SYNDROME
gene_symbol: PNPT1
disease_id: OMIM:614932
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13
gene_symbol: SPRED1
disease_id: ORPHA:137605
disease_name: Legius syndrome
NF1-like syndrome
Neurofibromatosis 1-like syndrome
Nonmosaic LGSS
Nonmosaic Legius syndrome
gene_symbol: TRAF3IP1
disease_id: ORPHA:3156
disease_name: Senior-Loken syndrome
Nephronophthisis with retinal dystrophy
Renal dysplasia-retinal aplasia syndrome
SLSN
gene_symbol: IQCB1
disease_id: ORPHA:3156
disease_name: Senior-Loken syndrome
Nephronophthisis with retinal dystrophy
Renal dysplasia-retinal aplasia syndrome
SLSN
gene_symbol: IQCB1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: INVS
disease_id: ORPHA:3156
disease_name: Senior-Loken syndrome
Nephronophthisis with retinal dystrophy
Renal dysplasia-retinal aplasia syndrome
SLSN
gene_symbol: NPHP4
disease_id: ORPHA:3156
disease_name: Senior-Loken syndrome
Nephronophthisis with retinal dystrophy
Renal dysplasia-retinal aplasia syndrome
SLSN
gene_symbol: WDR19
disease_id: ORPHA:3156
disease_name: Senior-Loken syndrome
Nephronophthisis with retinal dystrophy
Renal dysplasia-retinal aplasia syndrome
SLSN
gene_symbol: WDR19
disease_id: OMIM:614376
disease_name: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY
gene_symbol: NPHP3
disease_id: ORPHA:3156
disease_name: Senior-Loken syndrome
Nephronophthisis with retinal dystrophy
Renal dysplasia-retinal aplasia syndrome
SLSN
gene_symbol: CEP164
disease_id: ORPHA:3156
disease_name: Senior-Loken syndrome
Nephronophthisis with retinal dystrophy
Renal dysplasia-retinal aplasia syndrome
SLSN
gene_symbol: HNRNPDL
disease_id: OMIM:609115
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3
gene_symbol: TRPM3
disease_id: OMIM:620253
disease_name: CATARACT 50 WITH OR WITHOUT GLAUCOMA
gene_symbol: SC5D
disease_id: ORPHA:46059
disease_name: Lathosterolosis
Sterol C5-desaturase deficiency
gene_symbol: SC5D
disease_id: OMIM:607330
disease_name: LATHOSTEROLOSIS
gene_symbol: IL2RB
disease_id: ORPHA:85410
disease_name: Oligoarticular juvenile idiopathic arthritis
Oligoarticular JIA
Pauciarticular chronic arthritis
gene_symbol: ANKRD55
disease_id: ORPHA:85410
disease_name: Oligoarticular juvenile idiopathic arthritis
Oligoarticular JIA
Pauciarticular chronic arthritis
gene_symbol: PTPN22
disease_id: ORPHA:85410
disease_name: Oligoarticular juvenile idiopathic arthritis
Oligoarticular JIA
Pauciarticular chronic arthritis
gene_symbol: PTPN22
disease_id: ORPHA:3437
disease_name: Vogt-Koyanagi-Harada disease
Uveomenigitic syndrome
gene_symbol: CD247
disease_id: ORPHA:85410
disease_name: Oligoarticular juvenile idiopathic arthritis
Oligoarticular JIA
Pauciarticular chronic arthritis
gene_symbol: IL2RA
disease_id: ORPHA:85410
disease_name: Oligoarticular juvenile idiopathic arthritis
Oligoarticular JIA
Pauciarticular chronic arthritis
gene_symbol: PTPN2
disease_id: ORPHA:85410
disease_name: Oligoarticular juvenile idiopathic arthritis
Oligoarticular JIA
Pauciarticular chronic arthritis
gene_symbol: JAM3
disease_id: OMIM:613730
disease_name: HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS
gene_symbol: CYP27A1
disease_id: OMIM:213700
disease_name: CEREBROTENDINOUS XANTHOMATOSIS
gene_symbol: RHO
disease_id: OMIM:613731
disease_name: RETINITIS PIGMENTOSA 4
gene_symbol: OPA3
disease_id: OMIM:165300
disease_name: OPTIC ATROPHY 3, AUTOSOMAL DOMINANT
gene_symbol: OPA3
disease_id: ORPHA:67036
disease_name: Autosomal dominant optic atrophy and cataract
Autosomal dominant optic atrophy type 3
OPA3, autosomal dominant
gene_symbol: NEU1
disease_id: OMIM:256550
disease_name: NEURAMINIDASE DEFICIENCY
gene_symbol: NEU1
disease_id: ORPHA:93399
disease_name: Juvenile sialidosis type 2
gene_symbol: NEU1
disease_id: ORPHA:812
disease_name: Sialidosis type 1
Cherry-red spot-myoclonus syndrome
Lipomucopolysaccharidosis
Normomorphic sialidosis
gene_symbol: NEU1
disease_id: ORPHA:93400
disease_name: Congenital sialidosis type 2
gene_symbol: ZEB2
disease_id: OMIM:235730
disease_name: MOWAT-WILSON SYNDROME
gene_symbol: ZEB2
disease_id: ORPHA:261552
disease_name: Mowat-Wilson syndrome due to a ZEB2 point mutation
Hirschsprung disease and intellectual disability due to a ZEB2 point mutation
gene_symbol: ZEB2
disease_id: ORPHA:261537
disease_name: Mowat-Wilson syndrome due to monosomy 2q22
Hirschsprung disease and intellectual disability due to 2q22 microdeletion
Hirschsprung disease and intellectual disability due to del(2)(q22)
Hirschsprung disease and intellectual disability due to monosomy 2q22
Mowat-Wilson syndrome due to 2q22 microdeletion
Mowat-Wilson syndrome due to del(2)q(22)
gene_symbol: NSD1
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
gene_symbol: APC2
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
gene_symbol: RECQL4
disease_id: OMIM:268400
disease_name: ROTHMUND-THOMSON SYNDROME, TYPE 2
gene_symbol: DYNC2I1
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:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: WDR35
disease_id: ORPHA:93271
disease_name: Short rib-polydactyly syndrome, Verma-Naumoff type
Short rib-polydactyly syndrome type 3
gene_symbol: DYNC2H1
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: GNPAT
disease_id: OMIM:222765
disease_name: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2
gene_symbol: MED27
disease_id: OMIM:619286
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA
gene_symbol: AMACR
disease_id: ORPHA:79095
disease_name: Congenital bile acid synthesis defect type 4
2-methylacyl-CoA racemase deficiency
AMACR deficiency
Alpha-methyl-acyl-CoA racemase deficiency
BASD4
Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome
gene_symbol: AMACR
disease_id: OMIM:614307
disease_name: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY
gene_symbol: INPP5E
disease_id: ORPHA:75858
disease_name: MORM syndrome
Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome
gene_symbol: INPP5E
disease_id: OMIM:610156
disease_name: MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME
gene_symbol: DHCR7
disease_id: ORPHA:818
disease_name: Smith-Lemli-Opitz syndrome
7-dehydrocholesterol reductase deficiency
RSH syndrome
SLOS
gene_symbol: DHCR7
disease_id: OMIM:270400
disease_name: SMITH-LEMLI-OPITZ SYNDROME
gene_symbol: RAB3GAP2
disease_id: OMIM:212720
disease_name: MARTSOLF SYNDROME
gene_symbol: RAB3GAP2
disease_id: ORPHA:1387
disease_name: Cataract-intellectual disability-hypogonadism syndrome
Martsolf syndrome
gene_symbol: RAB3GAP2
disease_id: OMIM:614225
disease_name: WARBURG MICRO SYNDROME 2
gene_symbol: RAB3GAP2
disease_id: ORPHA:401830
disease_name: Autosomal recessive spastic paraplegia type 69
SPG69
gene_symbol: RAB3GAP2
disease_id: ORPHA:2510
disease_name: Micro syndrome
WARBM
Warburg micro syndrome
gene_symbol: SETD2
disease_id: OMIM:620157
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70
gene_symbol: SETD2
disease_id: OMIM:620155
disease_name: RABIN-PAPPAS SYNDROME
gene_symbol: SLC40A1
disease_id: OMIM:606069
disease_name: HEMOCHROMATOSIS, TYPE 4
gene_symbol: LRP4
disease_id: ORPHA:3258
disease_name: Cenani-Lenz syndrome
Cenani syndactyly
Cenani-Lenz syndactyly
Syndactyly type 7
gene_symbol: APC
disease_id: ORPHA:3258
disease_name: Cenani-Lenz syndrome
Cenani syndactyly
Cenani-Lenz syndactyly
Syndactyly type 7
gene_symbol: EPCAM
disease_id: ORPHA:92050
disease_name: Congenital tufting enteropathy
IED
Intestinal epithelial dysplasia
Non-syndromic congenital tufting enteropathy
gene_symbol: PERCC1
disease_id: ORPHA:92050
disease_name: Congenital tufting enteropathy
IED
Intestinal epithelial dysplasia
Non-syndromic congenital tufting enteropathy
gene_symbol: MT-ATP8
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATP5F1E
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATP5F1D
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATP5F1A
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: MT-ATP6
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATP5MK
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATPAF2
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: DGUOK
disease_id: ORPHA:329314
disease_name: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency
gene_symbol: KCTD1
disease_id: ORPHA:2036
disease_name: Scalp-ear-nipple syndrome
Finlay-Marks syndrome
gene_symbol: KCTD1
disease_id: OMIM:181270
disease_name: SCALP-EAR-NIPPLE SYNDROME
gene_symbol: TBCK
disease_id: OMIM:616900
disease_name: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
gene_symbol: OTX2
disease_id: OMIM:610125
disease_name: MICROPHTHALMIA, SYNDROMIC 5
gene_symbol: CNBP
disease_id: ORPHA:606
disease_name: Proximal myotonic myopathy
Myotonic dystrophy type 2
Proximal myotonic dystrophy
Ricker disease
Ricker syndrome
gene_symbol: ANO1
disease_id: OMIM:620045
disease_name: INTESTINAL DYSMOTILITY SYNDROME
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: FANCI
disease_id: ORPHA:84
disease_name: Fanconi anemia
Fanconi pancytopenia
gene_symbol: WFS1
disease_id: OMIM:222300
disease_name: WOLFRAM SYNDROME 1
gene_symbol: VAC14
disease_id: ORPHA:3472
disease_name: Yunis-Varon syndrome
Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
gene_symbol: BUB3
disease_id: ORPHA:1052
disease_name: Mosaic variegated aneuploidy syndrome
Warburton-Anyane-Yeboa syndrome
gene_symbol: BUB1
disease_id: ORPHA:1052
disease_name: Mosaic variegated aneuploidy syndrome
Warburton-Anyane-Yeboa syndrome
gene_symbol: CEP57
disease_id: ORPHA:1052
disease_name: Mosaic variegated aneuploidy syndrome
Warburton-Anyane-Yeboa syndrome
gene_symbol: TRIP13
disease_id: ORPHA:1052
disease_name: Mosaic variegated aneuploidy syndrome
Warburton-Anyane-Yeboa syndrome
gene_symbol: BUB1B
disease_id: ORPHA:1052
disease_name: Mosaic variegated aneuploidy syndrome
Warburton-Anyane-Yeboa syndrome
gene_symbol: BUB1B
disease_id: OMIM:257300
disease_name: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1
gene_symbol: ABHD12
disease_id: OMIM:612674
disease_name: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT
gene_symbol: ACTB
disease_id: OMIM:607371
disease_name: DYSTONIA, JUVENILE-ONSET
gene_symbol: ACTB
disease_id: ORPHA:79107
disease_name: Developmental malformations-deafness-dystonia syndrome
Developmental malformations-hearing loss-dystonia syndrome
gene_symbol: FOXE3
disease_id: OMIM:610256
disease_name: ANTERIOR SEGMENT DYSGENESIS 2
gene_symbol: CHD7
disease_id: OMIM:214800
disease_name: CHARGE SYNDROME
gene_symbol: SALL4
disease_id: ORPHA:959
disease_name: Acro-renal-ocular syndrome
gene_symbol: SALL4
disease_id: OMIM:607323
disease_name: DUANE-RADIAL RAY SYNDROME
gene_symbol: TDRD7
disease_id: OMIM:613887
disease_name: CATARACT 36
gene_symbol: SIN3A
disease_id: OMIM:613406
disease_name: WITTEVEEN-KOLK SYNDROME
gene_symbol: KCNN3
disease_id: ORPHA:3473
disease_name: Zimmermann-Laband syndrome
Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome
Laband syndrome
gene_symbol: NOTCH2
disease_id: ORPHA:955
disease_name: Hajdu-Cheney syndrome
Acroosteolysis dominant type
Acroosteolysis with osteoporosis and changes in skull and mandible
Arthrodentoosteodysplasia
Cheney syndrome
gene_symbol: FAM111B
disease_id: OMIM:615704
disease_name: POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS
gene_symbol: AP1S1
disease_id: OMIM:609313
disease_name: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA
gene_symbol: PHGDH
disease_id: OMIM:256520
disease_name: NEU-LAXOVA SYNDROME 1
gene_symbol: ALMS1
disease_id: ORPHA:64
disease_name: Alström syndrome
gene_symbol: RD3
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: RDH12
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: TUBB4B
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: USP45
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: PCYT1A
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: GDF6
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: AIPL1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: LRAT
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: SPATA7
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: TULP1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: LCA5
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: IMPDH1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: NEK9
disease_id: ORPHA:64754
disease_name: Nevus comedonicus syndrome
gene_symbol: PNPLA6
disease_id: ORPHA:2377
disease_name: Laurence-Moon syndrome
LMS
gene_symbol: STX1A
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: CLIP2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: DNAJC30
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: FKBP6
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: RFC2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2I
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: LIMK1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2IRD1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: VPS37D
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: METTL27
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: BUD23
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: EIF4H
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2IRD2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: TBL2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: NCF1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: TMEM270
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: BAZ1B
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: ELN
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: ERCC5
disease_id: OMIM:278780
disease_name: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G
gene_symbol: ERCC5
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC5
disease_id: ORPHA:1466
disease_name: COFS syndrome
Cerebrooculofacioskeletal syndrome
Pena-Shokeir syndrome type 2
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: ESCO2
disease_id: ORPHA:3103
disease_name: Roberts syndrome
Pseudothalidomide syndrome
Roberts-SC phocomelia syndrome
SC phocomelia
SC pseudothalidomide syndrome
gene_symbol: ESCO2
disease_id: OMIM:268300
disease_name: ROBERTS-SC PHOCOMELIA SYNDROME
gene_symbol: SLF2
disease_id: OMIM:620184
disease_name: ATELIS SYNDROME 1
gene_symbol: ARL2
disease_id: OMIM:619082
disease_name: MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1
gene_symbol: MAF
disease_id: ORPHA:1272
disease_name: Aymé-Gripp syndrome
Brachycephaly-deafness-cataract-intellectual disability syndrome
Brachycephaly-hearing loss-cataract-intellectual disability syndrome
Fine-Lubinsky syndrome
gene_symbol: MAF
disease_id: ORPHA:1377
disease_name: Cataract-microcornea syndrome
gene_symbol: SMAD4
disease_id: OMIM:139210
disease_name: MYHRE SYNDROME
gene_symbol: SMAD4
disease_id: ORPHA:2588
disease_name: Myhre syndrome
Facial dysmorphism-intellectual disability-short stature-deafness syndrome
Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome
Myhre-LAPS syndrome
Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome
gene_symbol: GSN
disease_id: ORPHA:85448
disease_name: AGel amyloidosis
Familial amyloid polyneuropathy type IV
Familial amyloidosis, Finnish type
Gelsolin amyloidosis
Hereditary amyloidosis, Finnish type
gene_symbol: GSN
disease_id: OMIM:105120
disease_name: AMYLOIDOSIS, FINNISH TYPE
gene_symbol: LAS1L
disease_id: ORPHA:3459
disease_name: Wilson-Turner syndrome
WTS
X-linked intellectual disability-gynecomastia-obesity syndrome
gene_symbol: HDAC8
disease_id: ORPHA:3459
disease_name: Wilson-Turner syndrome
WTS
X-linked intellectual disability-gynecomastia-obesity syndrome
gene_symbol: HDAC8
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: JAG1
disease_id: OMIM:118450
disease_name: ALAGILLE SYNDROME 1
gene_symbol: PLCG2
disease_id: OMIM:614878
disease_name: AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION
gene_symbol: SLC25A13
disease_id: ORPHA:247598
disease_name: Neonatal intrahepatic cholestasis due to citrin deficiency
NICCD
Neonatal intrahepatic cholestasis caused by citrin deficiency
gene_symbol: HNRNPA1
disease_id: ORPHA:52430
disease_name: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
IBMPFD
Limb-girdle muscular dystrophy with Paget disease of bone
Pagetoid amyotrophic lateral sclerosis
Pagetoid neuroskeletal syndrome
gene_symbol: VCP
disease_id: ORPHA:52430
disease_name: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
IBMPFD
Limb-girdle muscular dystrophy with Paget disease of bone
Pagetoid amyotrophic lateral sclerosis
Pagetoid neuroskeletal syndrome
gene_symbol: HNRNPA2B1
disease_id: ORPHA:52430
disease_name: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
IBMPFD
Limb-girdle muscular dystrophy with Paget disease of bone
Pagetoid amyotrophic lateral sclerosis
Pagetoid neuroskeletal syndrome
gene_symbol: PXDN
disease_id: OMIM:269400
disease_name: ANTERIOR SEGMENT DYSGENESIS 7
gene_symbol: ANO10
disease_id: ORPHA:284289
disease_name: Adult-onset autosomal recessive cerebellar ataxia
Autosomal recessive spinocerebellar ataxia type 10
SCAR10
gene_symbol: PIK3R1
disease_id: OMIM:269880
disease_name: SHORT SYNDROME
gene_symbol: ADAMTS17
disease_id: ORPHA:3449
disease_name: Weill-Marchesani syndrome
Spherophakia-brachymorphia syndrome
gene_symbol: LTBP2
disease_id: ORPHA:3449
disease_name: Weill-Marchesani syndrome
Spherophakia-brachymorphia syndrome
gene_symbol: SMAD3
disease_id: OMIM:613795
disease_name: LOEYS-DIETZ SYNDROME 3
gene_symbol: SMAD3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: GEMIN4
disease_id: OMIM:617913
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES
gene_symbol: SBF2
disease_id: ORPHA:99956
disease_name: Charcot-Marie-Tooth disease type 4B2
CMT4B2
gene_symbol: LETM1
disease_id: OMIM:620089
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION
gene_symbol: HMX1
disease_id: OMIM:612109
disease_name: OCULOAURICULAR SYNDROME
gene_symbol: GJA8
disease_id: OMIM:612474
disease_name: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
gene_symbol: GJA8
disease_id: ORPHA:1377
disease_name: Cataract-microcornea syndrome
gene_symbol: GJA5
disease_id: OMIM:612474
disease_name: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
gene_symbol: CRYBA4
disease_id: ORPHA:1377
disease_name: Cataract-microcornea syndrome
gene_symbol: CRYBB2
disease_id: ORPHA:1377
disease_name: Cataract-microcornea syndrome
gene_symbol: CRYBB1
disease_id: ORPHA:1377
disease_name: Cataract-microcornea syndrome
gene_symbol: CRYGC
disease_id: ORPHA:1377
disease_name: Cataract-microcornea syndrome
gene_symbol: CRYGD
disease_id: ORPHA:1377
disease_name: Cataract-microcornea syndrome
gene_symbol: XPA
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: XPC
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: DDB2
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: COL4A6
disease_id: ORPHA:1018
disease_name: X-linked Alport syndrome-diffuse leiomyomatosis
Xq22.3 microdeletion syndrome
gene_symbol: COL4A5
disease_id: ORPHA:1018
disease_name: X-linked Alport syndrome-diffuse leiomyomatosis
Xq22.3 microdeletion syndrome
gene_symbol: FIBP
disease_id: ORPHA:500095
disease_name: Tall stature-intellectual disability-renal anomalies syndrome
Thauvin-Robinet-Faivre syndrome
gene_symbol: CYP7B1
disease_id: ORPHA:100986
disease_name: Autosomal recessive spastic paraplegia type 5A
SPG5A
gene_symbol: CYP7B1
disease_id: OMIM:270800
disease_name: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE
gene_symbol: LSS
disease_id: ORPHA:1366
disease_name: Autosomal recessive palmoplantar keratoderma and congenital alopecia
Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia
Cataract-alopecia-sclerodactyly syndrome
PPK-CA, Wallis type
Palmoplantar keratoderma and congenital alopecia, Wallis type
gene_symbol: GALK1
disease_id: OMIM:230200
disease_name: GALACTOSEMIA II
gene_symbol: GALK1
disease_id: ORPHA:79237
disease_name: Galactokinase deficiency
GALK deficiency
GALK-D
Galactokinase deficiency galactosemia
Galactosemia type 2
gene_symbol: KIF21A
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: TUBB3
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: MAB21L2
disease_id: OMIM:615877
disease_name: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME
gene_symbol: WNT3
disease_id: ORPHA:3301
disease_name: Tetraamelia-multiple malformations syndrome
PAPPA syndrome
PAPPAS
Zimmer phocomelia
gene_symbol: WNT3
disease_id: OMIM:273395
disease_name: TETRAAMELIA SYNDROME 1
gene_symbol: RSPO2
disease_id: ORPHA:3301
disease_name: Tetraamelia-multiple malformations syndrome
PAPPA syndrome
PAPPAS
Zimmer phocomelia
gene_symbol: TBX4
disease_id: ORPHA:3301
disease_name: Tetraamelia-multiple malformations syndrome
PAPPA syndrome
PAPPAS
Zimmer phocomelia
gene_symbol: TKFC
disease_id: ORPHA:1369
disease_name: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Sengers syndrome
gene_symbol: TKFC
disease_id: OMIM:618805
disease_name: TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME
gene_symbol: LMX1B
disease_id: OMIM:161200
disease_name: NAIL-PATELLA SYNDROME
gene_symbol: MFRP
disease_id: OMIM:611040
disease_name: MICROPHTHALMIA, ISOLATED 5
gene_symbol: BLTP1
disease_id: OMIM:617822
disease_name: ALKURAYA-KUCINSKAS SYNDROME
gene_symbol: HSPA9
disease_id: OMIM:616854
disease_name: EVEN-PLUS SYNDROME
gene_symbol: MORC2
disease_id: ORPHA:466768
disease_name: Autosomal dominant Charcot-Marie-Tooth disease type 2Z
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation
CMT2Z
gene_symbol: PYCR1
disease_id: OMIM:614438
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB
gene_symbol: SLC16A12
disease_id: OMIM:612018
disease_name: CATARACT 47
gene_symbol: LMNA
disease_id: ORPHA:90153
disease_name: Mandibuloacral dysplasia with type A lipodystrophy
MADA
gene_symbol: SLC4A4
disease_id: OMIM:604278
disease_name: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION
gene_symbol: MFAP5
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: IPO8
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: THSD4
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFB2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: AEBP1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FKBP14
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFBR1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: COL3A1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: PLOD1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: NPR3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: PMEPA1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EFEMP1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EFEMP2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: LTBP3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FBN2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: LOX
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SLC2A10
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFB3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFBR2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: BGN
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: NPR2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: ABL1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SMAD2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TUBG1
disease_id: OMIM:615412
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4
gene_symbol: ERCC1
disease_id: ORPHA:1466
disease_name: COFS syndrome
Cerebrooculofacioskeletal syndrome
Pena-Shokeir syndrome type 2
gene_symbol: RB1
disease_id: ORPHA:1587
disease_name: Monosomy 13q14 syndrome
Del(13)(q14)
Deletion 13q14
gene_symbol: FGF3
disease_id: ORPHA:2791
disease_name: Otodental syndrome
Globodontia
Otodental dysplasia
gene_symbol: CENPF
disease_id: OMIM:243605
disease_name: STROMME SYNDROME
gene_symbol: GJB6
disease_id: OMIM:129500
disease_name: CLOUSTON SYNDROME
gene_symbol: TGFBI
disease_id: OMIM:121900
disease_name: CORNEAL DYSTROPHY, GROENOUW TYPE I
gene_symbol: PTH1R
disease_id: ORPHA:50945
disease_name: Blomstrand lethal chondrodysplasia
BLC
BOCD
Blomstrand chondrodysplasia
Blomstrand osteochondrodysplasia
Chondrodysplasia, Blomstrand type
gene_symbol: VSX2
disease_id: OMIM:610092
disease_name: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3
gene_symbol: AGA
disease_id: OMIM:208400
disease_name: ASPARTYLGLUCOSAMINURIA
gene_symbol: COL18A1
disease_id: ORPHA:1571
disease_name: Knobloch syndrome
Knobloch-Layer syndrome
Retinal detachment-occipital encephalocele syndrome
gene_symbol: PAK2
disease_id: ORPHA:1571
disease_name: Knobloch syndrome
Knobloch-Layer syndrome
Retinal detachment-occipital encephalocele syndrome
gene_symbol: AMER1
disease_id: ORPHA:2780
disease_name: Osteopathia striata-cranial sclerosis syndrome
Hyperostosis generalisata with striations
Robinow-Unger 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: BRD4
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: SMC3
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: SMC1A
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: RAD21
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: USH2A
disease_id: ORPHA:231178
disease_name: Usher syndrome type 2
USH2
gene_symbol: PDZD7
disease_id: ORPHA:231178
disease_name: Usher syndrome type 2
USH2
gene_symbol: MYO7A
disease_id: ORPHA:231178
disease_name: Usher syndrome type 2
USH2
gene_symbol: MYO7A
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: WHRN
disease_id: ORPHA:231178
disease_name: Usher syndrome type 2
USH2
gene_symbol: ADGRV1
disease_id: ORPHA:231178
disease_name: Usher syndrome type 2
USH2
gene_symbol: RPS6KA3
disease_id: ORPHA:192
disease_name: Coffin-Lowry syndrome
CLS
gene_symbol: CTDP1
disease_id: ORPHA:48431
disease_name: Congenital cataracts-facial dysmorphism-neuropathy syndrome
CCFDN
gene_symbol: ALX1
disease_id: ORPHA:306542
disease_name: Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
ALX1-related frontonasal dysplasia
Frontonasal dysplasia type 3
gene_symbol: FOXC1
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: RAB18
disease_id: OMIM:614222
disease_name: WARBURG MICRO SYNDROME 3
gene_symbol: RAB18
disease_id: ORPHA:2510
disease_name: Micro syndrome
WARBM
Warburg micro syndrome
gene_symbol: ALDH6A1
disease_id: OMIM:614105
disease_name: METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
gene_symbol: ITPA
disease_id: OMIM:616647
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35
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: MRPS28
disease_id: OMIM:618958
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47
gene_symbol: KIF11
disease_id: ORPHA:2526
disease_name: Microcephaly-lymphedema-chorioretinopathy syndrome
MLCRD
gene_symbol: KIF11
disease_id: OMIM:152950
disease_name: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION
gene_symbol: GTPBP2
disease_id: OMIM:617988
disease_name: JABERI-ELAHI SYNDROME
gene_symbol: OCLN
disease_id: OMIM:251290
disease_name: PSEUDO-TORCH SYNDROME 1
gene_symbol: BCS1L
disease_id: OMIM:124000
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: CLRN1
disease_id: ORPHA:231183
disease_name: Usher syndrome type 3
USH3
gene_symbol: ARSG
disease_id: ORPHA:231183
disease_name: Usher syndrome type 3
USH3
gene_symbol: MT-TS2
disease_id: ORPHA:231183
disease_name: Usher syndrome type 3
USH3
gene_symbol: HARS1
disease_id: ORPHA:231183
disease_name: Usher syndrome type 3
USH3
gene_symbol: CEP78
disease_id: ORPHA:231183
disease_name: Usher syndrome type 3
USH3
gene_symbol: SPTLC1
disease_id: OMIM:162400
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA
gene_symbol: CPT2
disease_id: OMIM:608836
disease_name: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
gene_symbol: XRCC4
disease_id: OMIM:616541
disease_name: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
gene_symbol: TRPV4
disease_id: ORPHA:2635
disease_name: Metatropic dysplasia
Metatropic dwarfism
gene_symbol: RHOA
disease_id: OMIM:618727
disease_name: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES
gene_symbol: NAGA
disease_id: ORPHA:79281
disease_name: Alpha-N-acetylgalactosaminidase deficiency type 3
NAGA deficiency type 3
Schindler disease type 3
gene_symbol: RBM8A
disease_id: OMIM:274000
disease_name: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
gene_symbol: TBC1D20
disease_id: ORPHA:2510
disease_name: Micro syndrome
WARBM
Warburg micro syndrome
gene_symbol: FAM50A
disease_id: OMIM:300261
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, ARMFIELD TYPE
gene_symbol: CDH23
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: USH1C
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: USH1G
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: ESPN
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: CIB2
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: PCDH15
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
gene_symbol: CTC1
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: TINF2
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: NHP2
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: USB1
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: WRAP53
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: RTEL1
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: NPM1
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: TERC
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: PARN
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: TERT
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: TYMS
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: INPP5K
disease_id: OMIM:617404
disease_name: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY
gene_symbol: TUBGCP6
disease_id: OMIM:251270
disease_name: MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1
gene_symbol: ATP6V1A
disease_id: OMIM:617403
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID
gene_symbol: VPS4A
disease_id: OMIM:619273
disease_name: CIMDAG SYNDROME
gene_symbol: MIR204
disease_id: OMIM:616722
disease_name: RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT
gene_symbol: TMEM127
disease_id: OMIM:171300
disease_name: PHEOCHROMOCYTOMA
gene_symbol: KIF1B
disease_id: OMIM:171300
disease_name: PHEOCHROMOCYTOMA
gene_symbol: RET
disease_id: OMIM:171300
disease_name: PHEOCHROMOCYTOMA
gene_symbol: VHL
disease_id: OMIM:171300
disease_name: PHEOCHROMOCYTOMA
gene_symbol: NAA60
disease_id: OMIM:620786
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE
gene_symbol: CRYBB3
disease_id: OMIM:609741
disease_name: CATARACT 22, MULTIPLE TYPES
gene_symbol: ARPC4
disease_id: OMIM:620141
disease_name: DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES
gene_symbol: CRYBA1
disease_id: OMIM:600881
disease_name: CATARACT 10, MULTIPLE TYPES
gene_symbol: SIPA1L3
disease_id: OMIM:616851
disease_name: CATARACT 45
gene_symbol: COL4A3
disease_id: OMIM:301050
disease_name: ALPORT SYNDROME 1, X-LINKED
gene_symbol: SNUPN
disease_id: OMIM:620793
disease_name: OMIM:620793
gene_symbol: IDH1
disease_id: ORPHA:99646
disease_name: Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
MC-HGA
gene_symbol: MT-TS1
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-ND1
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TL1
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TL2
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-CO1
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-CO2
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-CO3
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-CYB
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TC
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TQ
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TV
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TW
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TF
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TK
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TH
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-ND5
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-ND6
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: RIC1
disease_id: OMIM:618761
disease_name: CATIFA SYNDROME
gene_symbol: NUP188
disease_id: OMIM:618804
disease_name: SANDESTIG-STEFANOVA SYNDROME
gene_symbol: ABCA2
disease_id: OMIM:618808
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA
gene_symbol: SEC31A
disease_id: OMIM:618651
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES
gene_symbol: HYCC1
disease_id: OMIM:610532
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 5
gene_symbol: HYCC1
disease_id: ORPHA:85163
disease_name: Hypomyelination-congenital cataract syndrome
gene_symbol: EPHA2
disease_id: OMIM:116600
disease_name: CATARACT 6, MULTIPLE TYPES
gene_symbol: PSMC3
disease_id: OMIM:619354
disease_name: DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY
gene_symbol: MAFA
disease_id: OMIM:147630
disease_name: INSULINOMATOSIS AND DIABETES MELLITUS
gene_symbol: TELO2
disease_id: ORPHA:488642
disease_name: TELO2-related intellectual disability-neurodevelopmental disorder
You-Hoover-Fong syndrome
gene_symbol: BFSP2
disease_id: OMIM:611597
disease_name: CATARACT 12, MULTIPLE TYPES
gene_symbol: PIGY
disease_id: OMIM:616809
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6
gene_symbol: SMC5
disease_id: OMIM:620185
disease_name: ATELIS SYNDROME 2
gene_symbol: EHMT1
disease_id: ORPHA:261652
disease_name: Kleefstra syndrome due to a point mutation
gene_symbol: KMT2C
disease_id: ORPHA:261652
disease_name: Kleefstra syndrome due to a point mutation
gene_symbol: ENTPD1
disease_id: OMIM:615683
disease_name: SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE
gene_symbol: GCNT2
disease_id: OMIM:116700
disease_name: CATARACT 13 WITH ADULT i PHENOTYPE
gene_symbol: KCNA4
disease_id: OMIM:618284
disease_name: MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM
gene_symbol: SLC33A1
disease_id: OMIM:614482
disease_name: CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
gene_symbol: PIK3C2A
disease_id: OMIM:618440
disease_name: OCULOSKELETODENTAL SYNDROME
gene_symbol: PIK3C2A
disease_id: ORPHA:557003
disease_name: Oculoskeletodental syndrome
Oculo-skeleto-dental syndrome
gene_symbol: FBLN5
disease_id: ORPHA:90348
disease_name: Autosomal dominant cutis laxa
ADCL
gene_symbol: FAM111A
disease_id: OMIM:127000
disease_name: KENNY-CAFFEY SYNDROME, TYPE 2
gene_symbol: FAM111A
disease_id: ORPHA:93325
disease_name: Autosomal dominant Kenny-Caffey syndrome
gene_symbol: CARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: RNF113A
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: MPLKIP
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: TARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: AARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: GTF2E2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: RPL15
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS20
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL35A
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL8
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS19
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS27
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: HEATR3
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL31
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS7
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL27
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS28
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL11
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS24
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL5
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS10
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: GATA1
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL9
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS26
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL35
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS17
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL26
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS15A
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: TSR2
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL18
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS29
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: ADA2
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: CRYGB
disease_id: OMIM:615188
disease_name: CATARACT 39, MULTIPLE TYPES
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: MSMO1
disease_id: OMIM:616834
disease_name: MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS
gene_symbol: BEST1
disease_id: OMIM:193220
disease_name: VITREORETINOCHOROIDOPATHY
gene_symbol: ETFDH
disease_id: OMIM:231680
disease_name: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY
gene_symbol: ETFA
disease_id: OMIM:231680
disease_name: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY
gene_symbol: ETFB
disease_id: OMIM:231680
disease_name: MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY
gene_symbol: CHD6
disease_id: ORPHA:2108
disease_name: Hallermann-Streiff syndrome
François dyscephalic syndrome
Oculomandibulofacial syndrome
gene_symbol: ANAPC1
disease_id: ORPHA:221008
disease_name: Rothmund-Thomson syndrome type 1
Poikiloderma of Rothmund-Thomson type 1
RTS1
gene_symbol: ABHD5
disease_id: ORPHA:98907
disease_name: Neutral lipid storage disease with ichthyosis
CDS
Chanarin-Dorfman syndrome
DCS
Dorfman-Chanarin syndrome
NLSDI
gene_symbol: ABHD5
disease_id: OMIM:275630
disease_name: CHANARIN-DORFMAN SYNDROME
gene_symbol: PRPF8
disease_id: OMIM:600059
disease_name: RETINITIS PIGMENTOSA 13
gene_symbol: CYP1B1
disease_id: ORPHA:708
disease_name: Peters anomaly
Peters congenital glaucoma
gene_symbol: PITX2
disease_id: ORPHA:708
disease_name: Peters anomaly
Peters congenital glaucoma
gene_symbol: PORCN
disease_id: OMIM:305600
disease_name: FOCAL DERMAL HYPOPLASIA
gene_symbol: PORCN
disease_id: ORPHA:2092
disease_name: Focal dermal hypoplasia
Goltz syndrome
Goltz-Gorlin syndrome
gene_symbol: MOCS1
disease_id: OMIM:252150
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A
gene_symbol: TAP1
disease_id: OMIM:604571
disease_name: BARE LYMPHOCYTE SYNDROME, TYPE I
gene_symbol: COL5A1
disease_id: OMIM:130000
disease_name: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
gene_symbol: C12orf57
disease_id: OMIM:218340
disease_name: TEMTAMY SYNDROME
gene_symbol: AASS
disease_id: OMIM:238700
disease_name: HYPERLYSINEMIA, TYPE I
gene_symbol: SUOX
disease_id: OMIM:272300
disease_name: SULFITE OXIDASE DEFICIENCY, ISOLATED
gene_symbol: MOCS2
disease_id: OMIM:252160
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B
gene_symbol: ITM2B
disease_id: OMIM:117300
disease_name: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2
gene_symbol: VIM
disease_id: OMIM:116300
disease_name: CATARACT 30, MULTIPLE TYPES
gene_symbol: MECP2
disease_id: OMIM:300055
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13
gene_symbol: ADNP
disease_id: ORPHA:404448
disease_name: ADNP syndrome
ADNP-related syndromic intellectual disability-autism spectrum disorder
HVDAS
Helsmoortel-Van Der Aa Syndrome
gene_symbol: TGM3
disease_id: OMIM:617251
disease_name: UNCOMBABLE HAIR SYNDROME 2
gene_symbol: LEMD2
disease_id: OMIM:212500
disease_name: CATARACT 46, JUVENILE-ONSET, WITH OR WITHOUT ARRHYTHMIC CARDIOMYOPATHY
gene_symbol: HS2ST1
disease_id: OMIM:619194
disease_name: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS
gene_symbol: TAOK1
disease_id: OMIM:619575
disease_name: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES
gene_symbol: MIR184
disease_id: OMIM:614303
disease_name: EDICT SYNDROME
gene_symbol: DBR1
disease_id: OMIM:620510
disease_name: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME
gene_symbol: PRPH2
disease_id: ORPHA:52427
disease_name: Retinitis punctata albescens
RPA
gene_symbol: RLBP1
disease_id: ORPHA:52427
disease_name: Retinitis punctata albescens
RPA
gene_symbol: RDH5
disease_id: ORPHA:52427
disease_name: Retinitis punctata albescens
RPA
gene_symbol: SEC23A
disease_id: OMIM:607812
disease_name: CRANIOLENTICULOSUTURAL DYSPLASIA
gene_symbol: LIM2
disease_id: OMIM:615277
disease_name: CATARACT 19, MULTIPLE TYPES
gene_symbol: EYS
disease_id: OMIM:602772
disease_name: RETINITIS PIGMENTOSA 25
gene_symbol: EYS
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: REEP6
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: REEP6
disease_id: OMIM:617304
disease_name: RETINITIS PIGMENTOSA 77
gene_symbol: ROM1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ABCA4
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ZNF513
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CDHR1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ARL2BP
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ARL2BP
disease_id: OMIM:615434
disease_name: RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS
gene_symbol: AHI1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RP1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IDH3A
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: NEK2
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IFT88
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SNRNP200
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CA4
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: HGSNAT
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: AHR
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RPGR
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PDE6G
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PRPF31
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IFT43
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: MAK
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: FSCN2
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CERKL
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IDH3B
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IDH3B
disease_id: OMIM:612572
disease_name: RETINITIS PIGMENTOSA 46
gene_symbol: KIAA1549
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: TUB
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PRPF6
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PRPF6
disease_id: OMIM:613983
disease_name: RETINITIS PIGMENTOSA 60
gene_symbol: COQ8B
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: MERTK
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SLC7A14
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PRCD
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ARHGEF18
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RBP3
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RBP3
disease_id: OMIM:615233
disease_name: RETINITIS PIGMENTOSA 66
gene_symbol: FAM161A
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ARL3
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ARL3
disease_id: OMIM:618173
disease_name: RETINITIS PIGMENTOSA 83
gene_symbol: PDE6A
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PDE6A
disease_id: OMIM:613810
disease_name: RETINITIS PIGMENTOSA 43
gene_symbol: TOPORS
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PROM1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PRPF4
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IMPG2
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IMPG2
disease_id: OMIM:613581
disease_name: RETINITIS PIGMENTOSA 56
gene_symbol: OFD1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: OFD1
disease_id: OMIM:300424
disease_name: RETINITIS PIGMENTOSA 23
gene_symbol: GUCA1B
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CNGA1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CNGB1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: AGBL5
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PCARE
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RGR
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PRPF3
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: KLHL7
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: IMPG1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RP1L1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: KIZ
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SEMA4A
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: NRL
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SAG
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: DHDDS
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: POLR3GL
disease_id: OMIM:619234
disease_name: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY
gene_symbol: ADAMTS18
disease_id: OMIM:615458
disease_name: MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS
gene_symbol: CHMP4B
disease_id: OMIM:605387
disease_name: CATARACT 31, MULTIPLE TYPES
gene_symbol: CHM
disease_id: ORPHA:180
disease_name: Choroideremia
CHM
Tapetochoroidal dystrophy
gene_symbol: CFAP410
disease_id: OMIM:617547
disease_name: RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA
gene_symbol: UNC45B
disease_id: OMIM:616279
disease_name: CATARACT 43
gene_symbol: MYH9
disease_id: ORPHA:182050
disease_name: MYH9-related disease
MYH9-RD
MYH9-related disorder
MYH9-related syndrome
MYH9-related syndromic thrombocytopenia
gene_symbol: MTAP
disease_id: OMIM:112250
disease_name: DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA
gene_symbol: CRYGS
disease_id: OMIM:116100
disease_name: CATARACT 20, MULTIPLE TYPES
gene_symbol: BFSP1
disease_id: OMIM:611391
disease_name: CATARACT 33, MULTIPLE TYPES
gene_symbol: MIP
disease_id: OMIM:615274
disease_name: CATARACT 15, MULTIPLE TYPES
gene_symbol: RTN4IP1
disease_id: OMIM:616732
disease_name: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES
gene_symbol: ACADS
disease_id: OMIM:201470
disease_name: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF
gene_symbol: HSF4
disease_id: OMIM:116800
disease_name: CATARACT 5, MULTIPLE TYPES
gene_symbol: GJA3
disease_id: OMIM:601885
disease_name: CATARACT 14, MULTIPLE TYPES
gene_symbol: BAP1
disease_id: ORPHA:39044
disease_name: Uveal melanoma
Choroid melanoma
Choroidal and ciliary body melanomas
Melanoma of choroid
Melanoma of uvea
gene_symbol: CYSLTR2
disease_id: ORPHA:39044
disease_name: Uveal melanoma
Choroid melanoma
Choroidal and ciliary body melanomas
Melanoma of choroid
Melanoma of uvea
gene_symbol: GNAQ
disease_id: ORPHA:39044
disease_name: Uveal melanoma
Choroid melanoma
Choroidal and ciliary body melanomas
Melanoma of choroid
Melanoma of uvea
gene_symbol: GNA11
disease_id: ORPHA:39044
disease_name: Uveal melanoma
Choroid melanoma
Choroidal and ciliary body melanomas
Melanoma of choroid
Melanoma of uvea
gene_symbol: SF3B1
disease_id: ORPHA:39044
disease_name: Uveal melanoma
Choroid melanoma
Choroidal and ciliary body melanomas
Melanoma of choroid
Melanoma of uvea
gene_symbol: PANK4
disease_id: OMIM:619593
disease_name: CATARACT 49
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: FYCO1
disease_id: OMIM:610019
disease_name: CATARACT 18
gene_symbol: FZD5
disease_id: OMIM:620731
disease_name: MICROPHTHALMIA/COLOBOMA 11
gene_symbol: FBXW11
disease_id: OMIM:618914
disease_name: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME
gene_symbol: ATP7B
disease_id: ORPHA:905
disease_name: Wilson disease
Hepatolenticular degeneration
gene_symbol: ATP7B
disease_id: OMIM:277900
disease_name: WILSON DISEASE