Phenotype: Sensory behavioral abnormality (HP:5200046)
Associated genes and diseases:
gene_symbol: CTNS
disease_id: OMIM:219800
disease_name: CYSTINOSIS, NEPHROPATHIC
gene_symbol: CTNS
disease_id: OMIM:219750
disease_name: CYSTINOSIS, ADULT NONNEPHROPATHIC
gene_symbol: CTNS
disease_id: ORPHA:411629
disease_name: Infantile nephropathic cystinosis
gene_symbol: CTNS
disease_id: OMIM:219900
disease_name: CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE
gene_symbol: CTNS
disease_id: ORPHA:411641
disease_name: Ocular cystinosis
Adult-onset cystinosis
Non-nephropathic cystinosis
gene_symbol: CTNS
disease_id: ORPHA:411634
disease_name: Juvenile nephropathic cystinosis
Intermediate cystinosis
Juvenile cystinosis
gene_symbol: CACNA1F
disease_id: OMIM:300476
disease_name: CONE-ROD DYSTROPHY, X-LINKED, 3
gene_symbol: CACNA1F
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
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: ORPHA:90322
disease_name: Cockayne syndrome type 2
Cockayne syndrome type II
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: ORPHA:90322
disease_name: Cockayne syndrome type 2
Cockayne syndrome type II
gene_symbol: TYR
disease_id: OMIM:203100
disease_name: ALBINISM, OCULOCUTANEOUS, TYPE IA
gene_symbol: TYR
disease_id: OMIM:606952
disease_name: ALBINISM, OCULOCUTANEOUS, TYPE IB
gene_symbol: TYR
disease_id: ORPHA:79431
disease_name: Oculocutaneous albinism type 1A
OCA1A
Tyrosinase-negative oculocutaneous albinism
gene_symbol: TYR
disease_id: ORPHA:79434
disease_name: Oculocutaneous albinism type 1B
OCA1B
Oculocutaneous albinism, Amish type
Platinum oculocutaneous albinism
Yellow oculocutaneous albinism
gene_symbol: CHST6
disease_id: ORPHA:98969
disease_name: Macular corneal dystrophy
Corneal dystrophy Groenouw type II
Fehr corneal dystrophy
MCD
gene_symbol: CHST6
disease_id: OMIM:217800
disease_name: MACULAR DYSTROPHY, CORNEAL
gene_symbol: GNAT2
disease_id: OMIM:613856
disease_name: ACHROMATOPSIA 4
gene_symbol: GNAT2
disease_id: ORPHA:1871
disease_name: Progressive cone dystrophy
Cone dystrophy
gene_symbol: GNAT2
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: TRANK1
disease_id: ORPHA:33543
disease_name: Kleine-Levin syndrome
gene_symbol: LSS
disease_id: ORPHA:2850
disease_name: Alopecia-intellectual disability syndrome
Perniola-Krajewska-Carnevale syndrome
gene_symbol: AHSG
disease_id: ORPHA:2850
disease_name: Alopecia-intellectual disability syndrome
Perniola-Krajewska-Carnevale syndrome
gene_symbol: ITGB6
disease_id: ORPHA:2850
disease_name: Alopecia-intellectual disability syndrome
Perniola-Krajewska-Carnevale syndrome
gene_symbol: PCNA
disease_id: OMIM:615919
disease_name: ATAXIA-TELANGIECTASIA-LIKE DISORDER 2
gene_symbol: PCNA
disease_id: ORPHA:438134
disease_name: PCNA-related progressive neurodegenerative photosensitivity syndrome
gene_symbol: TGFBI
disease_id: ORPHA:98962
disease_name: Granular corneal dystrophy type I
Classic GCD
Classic granular corneal dystrophy
Corneal dystrophy Groenouw type I
GCD1
GCDI
Granular corneal dystrophy type 1
gene_symbol: TGFBI
disease_id: ORPHA:98964
disease_name: Lattice corneal dystrophy type I
Biber-Haab-Dimmer dystrophy
Classic lattice corneal dystrophy
LCD1
LCDI
Lattice corneal dystrophy type 1
gene_symbol: TGFBI
disease_id: ORPHA:98960
disease_name: Thiel-Behnke corneal dystrophy
Anterior limiting membrane dystrophy type 2
Anterior limiting membrane dystrophy type II
Corneal dystrophy of Bowman layer type 2
Corneal dystrophy of Bowman layer type II
Curly fiber corneal dystrophy
Honeycomb corneal dystrophy
TBCD
Waardenburg-Jonker corneal dystrophy
gene_symbol: TGFBI
disease_id: OMIM:608470
disease_name: CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE
gene_symbol: TGFBI
disease_id: OMIM:602082
disease_name: CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE
gene_symbol: ERCC4
disease_id: ORPHA:90321
disease_name: Cockayne syndrome type 1
Cockayne syndrome type I
gene_symbol: ERCC4
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC1
disease_id: ORPHA:90322
disease_name: Cockayne syndrome type 2
Cockayne syndrome type II
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: CNGB3
disease_id: OMIM:262300
disease_name: ACHROMATOPSIA 3
gene_symbol: CNGB3
disease_id: ORPHA:1871
disease_name: Progressive cone dystrophy
Cone dystrophy
gene_symbol: CNGB3
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: AP1B1
disease_id: OMIM:242150
disease_name: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE
gene_symbol: DCT
disease_id: OMIM:619165
disease_name: OCULOCUTANEOUS ALBINISM, TYPE VIII
gene_symbol: CFAP410
disease_id: OMIM:617547
disease_name: RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA
gene_symbol: CFAP410
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: CNNM4
disease_id: ORPHA:1873
disease_name: Jalili syndrome
Cone rod dystrophy-amelogenesis imperfecta syndrome
gene_symbol: CNNM4
disease_id: OMIM:217080
disease_name: JALILI SYNDROME
gene_symbol: PROM1
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: PROM1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ATF6
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: ATF6
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: ATF6
disease_id: OMIM:616517
disease_name: ACHROMATOPSIA 7
gene_symbol: NMNAT1
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: NMNAT1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: NMNAT1
disease_id: OMIM:608553
disease_name: LEBER CONGENITAL AMAUROSIS 9
gene_symbol: RAX2
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: RAX2
disease_id: OMIM:610381
disease_name: CONE-ROD DYSTROPHY 11
gene_symbol: RPGRIP1
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: RPGRIP1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: RPGRIP1
disease_id: OMIM:608194
disease_name: CONE-ROD DYSTROPHY 13
gene_symbol: RPGRIP1
disease_id: OMIM:613826
disease_name: LEBER CONGENITAL AMAUROSIS 6
gene_symbol: ABCA4
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: ABCA4
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CNGA3
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: CNGA3
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: CNGA3
disease_id: OMIM:216900
disease_name: ACHROMATOPSIA 2
gene_symbol: CDHR1
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: CDHR1
disease_id: OMIM:613660
disease_name: CONE-ROD DYSTROPHY 15
gene_symbol: CDHR1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: OPN1LW
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: OPN1LW
disease_id: OMIM:303700
disease_name: BLUE CONE MONOCHROMACY
gene_symbol: OPN1LW
disease_id: ORPHA:16
disease_name: Blue cone monochromatism
Atypical X-linked achromatopsia
Blue cone monochromacy
Color blindness, blue monocone monochromatic type
S cone monochromacy
S cone monochromatism
X-linked incomplete achromatopsia
gene_symbol: PRPH2
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: PRPH2
disease_id: ORPHA:52427
disease_name: Retinitis punctata albescens
RPA
gene_symbol: PRPH2
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PRPH2
disease_id: OMIM:613105
disease_name: CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
gene_symbol: PRPH2
disease_id: OMIM:169150
disease_name: MACULAR DYSTROPHY, PATTERNED, 1
gene_symbol: PRPH2
disease_id: OMIM:608161
disease_name: MACULAR DYSTROPHY, VITELLIFORM, 3
gene_symbol: ADAM9
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: GUCY2D
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: GUCY2D
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: GUCY2D
disease_id: OMIM:204000
disease_name: LEBER CONGENITAL AMAUROSIS 1
gene_symbol: GUCY2D
disease_id: OMIM:601777
disease_name: CONE-ROD DYSTROPHY 6
gene_symbol: RIMS1
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: DRAM2
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: DRAM2
disease_id: OMIM:616502
disease_name: CONE-ROD DYSTROPHY 21
gene_symbol: RPGR
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: RPGR
disease_id: OMIM:304020
disease_name: CONE-ROD DYSTROPHY, X-LINKED, 1
gene_symbol: RPGR
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: RPGR
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RPGR
disease_id: OMIM:300029
disease_name: RETINITIS PIGMENTOSA 3
gene_symbol: OPN1MW
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: OPN1MW
disease_id: OMIM:303700
disease_name: BLUE CONE MONOCHROMACY
gene_symbol: OPN1MW
disease_id: ORPHA:16
disease_name: Blue cone monochromatism
Atypical X-linked achromatopsia
Blue cone monochromacy
Color blindness, blue monocone monochromatic type
S cone monochromacy
S cone monochromatism
X-linked incomplete achromatopsia
gene_symbol: CRX
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: CRX
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: CRX
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CRX
disease_id: OMIM:613829
disease_name: LEBER CONGENITAL AMAUROSIS 7
gene_symbol: UNC119
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: UNC119
disease_id: OMIM:620342
disease_name: CONE-ROD DYSTROPHY 24
gene_symbol: CACNA2D4
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: CACNA2D4
disease_id: OMIM:610478
disease_name: RETINAL CONE DYSTROPHY 4
gene_symbol: GUCA1A
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: GUCA1A
disease_id: ORPHA:1871
disease_name: Progressive cone dystrophy
Cone dystrophy
gene_symbol: GUCA1A
disease_id: OMIM:602093
disease_name: CONE DYSTROPHY 3
gene_symbol: UBAP1L
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: POC1B
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: SEMA4A
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: SEMA4A
disease_id: OMIM:610283
disease_name: CONE-ROD DYSTROPHY 10
gene_symbol: SEMA4A
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PITPNM3
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: PITPNM3
disease_id: OMIM:600977
disease_name: CONE-ROD DYSTROPHY 5
gene_symbol: TTLL5
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: TLCD3B
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: TLCD3B
disease_id: OMIM:619531
disease_name: CONE-ROD DYSTROPHY 22
gene_symbol: CFAP418
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
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: CFAP418
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: AIPL1
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: AIPL1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: RAB28
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: PDE6C
disease_id: ORPHA:1871
disease_name: Progressive cone dystrophy
Cone dystrophy
gene_symbol: PDE6C
disease_id: OMIM:613093
disease_name: CONE DYSTROPHY 4
gene_symbol: PDE6C
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: ALDH3A2
disease_id: ORPHA:816
disease_name: Sjögren-Larsson syndrome
Fatty acid alcohol oxidoreductase deficiency
gene_symbol: ALDH3A2
disease_id: OMIM:270200
disease_name: SJOGREN-LARSSON SYNDROME
gene_symbol: INPP5E
disease_id: ORPHA:75858
disease_name: MORM syndrome
Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome
gene_symbol: KCNV2
disease_id: OMIM:610356
disease_name: RETINAL CONE DYSTROPHY 3B
gene_symbol: SLC1A3
disease_id: OMIM:612656
disease_name: EPISODIC ATAXIA, TYPE 6
gene_symbol: SLC1A3
disease_id: ORPHA:209967
disease_name: Episodic ataxia type 6
gene_symbol: TACSTD2
disease_id: ORPHA:98957
disease_name: Gelatinous drop-like corneal dystrophy
GDCD
Primary familial amyloidosis of the cornea
Subepithelial amyloidosis of the cornea
gene_symbol: TACSTD2
disease_id: OMIM:204870
disease_name: CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE
gene_symbol: PIKFYVE
disease_id: OMIM:121850
disease_name: CORNEAL DYSTROPHY, FLECK
gene_symbol: BLOC1S5
disease_id: OMIM:619172
disease_name: HERMANSKY-PUDLAK SYNDROME 11
gene_symbol: HLA-A
disease_id: ORPHA:179
disease_name: Birdshot chorioretinopathy
Birdshot chorioretinitis
Birdshot retinochoroiditis
Birdshot retinochoroidopathy
Vitiliginous choroiditis
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: MBTPS2
disease_id: ORPHA:2273
disease_name: Ichthyosis follicularis-alopecia-photophobia syndrome
IFAP syndrome
Ichthyosis follicularis-atrichia-photophobia syndrome
gene_symbol: MBTPS2
disease_id: ORPHA:2340
disease_name: Keratosis follicularis spinulosa decalvans
gene_symbol: MBTPS2
disease_id: OMIM:308800
disease_name: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED
gene_symbol: MBTPS2
disease_id: OMIM:308205
disease_name: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME
gene_symbol: MAPT
disease_id: ORPHA:240071
disease_name: Classic progressive supranuclear palsy syndrome
Classic PSP syndrome
Richardson syndrome
Steele-Richardson-Olszewski disease
gene_symbol: MAPT
disease_id: OMIM:601104
disease_name: SUPRANUCLEAR PALSY, PROGRESSIVE, 1
gene_symbol: SLC24A5
disease_id: OMIM:113750
disease_name: ALBINISM, OCULOCUTANEOUS, TYPE VI
gene_symbol: SLC24A5
disease_id: ORPHA:370097
disease_name: Oculocutaneous albinism type 6
OCA6
gene_symbol: ZNF408
disease_id: OMIM:616469
disease_name: RETINITIS PIGMENTOSA 72
gene_symbol: ZNF408
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ELOVL1
disease_id: OMIM:618527
disease_name: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES
gene_symbol: KRT3
disease_id: OMIM:618767
disease_name: CORNEAL DYSTROPHY, MEESMANN, 2
gene_symbol: ALMS1
disease_id: OMIM:203800
disease_name: ALSTROM SYNDROME
gene_symbol: ALMS1
disease_id: ORPHA:64
disease_name: Alström syndrome
gene_symbol: WNT10A
disease_id: OMIM:257980
disease_name: ODONTOONYCHODERMAL DYSPLASIA
gene_symbol: WNT10A
disease_id: OMIM:150400
disease_name: TOOTH AGENESIS, SELECTIVE, 4
gene_symbol: AP3B1
disease_id: OMIM:608233
disease_name: HERMANSKY-PUDLAK SYNDROME 2
gene_symbol: LYST
disease_id: ORPHA:167
disease_name: Chédiak-Higashi syndrome
Chédiak-Higashi disease
Chédiak-Higashi-Steinbrink syndrome
gene_symbol: LYST
disease_id: OMIM:214500
disease_name: CHEDIAK-HIGASHI SYNDROME
gene_symbol: TIMM8A
disease_id: OMIM:304700
disease_name: MOHR-TRANEBJAERG SYNDROME
gene_symbol: TIMM8A
disease_id: ORPHA:52368
disease_name: Mohr-Tranebjaerg syndrome
DDON syndrome
Deafness-dystonia-optic neuronopathy syndrome
Hearing loss-dystonia-optic neuronopathy syndrome
gene_symbol: CRYGC
disease_id: OMIM:604307
disease_name: CATARACT 2, MULTIPLE TYPES
gene_symbol: COL4A1
disease_id: OMIM:180000
disease_name: RETINAL ARTERIES, TORTUOSITY OF
gene_symbol: LTBP2
disease_id: OMIM:613086
disease_name: GLAUCOMA 3, PRIMARY CONGENITAL, D
gene_symbol: LTBP2
disease_id: ORPHA:98976
disease_name: Congenital glaucoma
Buphthalmia
Buphthalmos
Buphthalmus
Primary congenital glaucoma
gene_symbol: PLCD1
disease_id: ORPHA:2387
disease_name: Leukonychia totalis
gene_symbol: CST6
disease_id: OMIM:618535
disease_name: ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE
gene_symbol: FZD5
disease_id: OMIM:620731
disease_name: MICROPHTHALMIA/COLOBOMA 11
gene_symbol: LIG4
disease_id: ORPHA:235
disease_name: Dubowitz syndrome
gene_symbol: NSUN2
disease_id: ORPHA:235
disease_name: Dubowitz syndrome
gene_symbol: GJB6
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: GJB6
disease_id: OMIM:129500
disease_name: CLOUSTON SYNDROME
gene_symbol: GJB2
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: GJB2
disease_id: OMIM:148210
disease_name: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT
gene_symbol: KCNJ13
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: KCNJ13
disease_id: OMIM:614186
disease_name: LEBER CONGENITAL AMAUROSIS 16
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: RDH12
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CEP290
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: CEP290
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: TUBB4B
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: TUBB4B
disease_id: OMIM:617879
disease_name: LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS
gene_symbol: IFT140
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: IFT140
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: USP45
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: RPE65
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: RPE65
disease_id: OMIM:204100
disease_name: LEBER CONGENITAL AMAUROSIS 2
gene_symbol: RPE65
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RPE65
disease_id: ORPHA:364055
disease_name: Severe early-childhood-onset retinal dystrophy
EOSRD
Early-onset severe retinal dystrophy
SECORD
gene_symbol: CRB1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: CRB1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PCYT1A
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: IQCB1
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: LRAT
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: LRAT
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: LRAT
disease_id: ORPHA:364055
disease_name: Severe early-childhood-onset retinal dystrophy
EOSRD
Early-onset severe retinal dystrophy
SECORD
gene_symbol: LRAT
disease_id: OMIM:613341
disease_name: LEBER CONGENITAL AMAUROSIS 14
gene_symbol: SPATA7
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: SPATA7
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SPATA7
disease_id: ORPHA:364055
disease_name: Severe early-childhood-onset retinal dystrophy
EOSRD
Early-onset severe retinal dystrophy
SECORD
gene_symbol: TULP1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: TULP1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: TULP1
disease_id: OMIM:613843
disease_name: LEBER CONGENITAL AMAUROSIS 15
gene_symbol: LCA5
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: LCA5
disease_id: ORPHA:364055
disease_name: Severe early-childhood-onset retinal dystrophy
EOSRD
Early-onset severe retinal dystrophy
SECORD
gene_symbol: IMPDH1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: IMPDH1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: BBIP1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT27
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SCAPER
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SCAPER
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: NPHP1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: WDPCP
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SCLT1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS9
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CEP19
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: TRIM32
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: MKS1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: 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: TTC8
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: TTC8
disease_id: OMIM:613464
disease_name: RETINITIS PIGMENTOSA 51
gene_symbol: IFT172
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT172
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: BBS2
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS2
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
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: ARL6
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: ARL6
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
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: PDE6H
disease_id: OMIM:610024
disease_name: RETINAL CONE DYSTROPHY 3A
gene_symbol: PDE6H
disease_id: ORPHA:49382
disease_name: Achromatopsia
ACHM
Complete or incomplete color blindness
Pingelapese blindness
Rod monochromacy
Rod monochromatism
Total color blindness
gene_symbol: HARS1
disease_id: OMIM:614504
disease_name: USHER SYNDROME, TYPE IIIB
gene_symbol: PNPLA6
disease_id: OMIM:215470
disease_name: BOUCHER-NEUHAUSER SYNDROME
gene_symbol: EDNRA
disease_id: OMIM:157300
disease_name: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
gene_symbol: ESR1
disease_id: OMIM:157300
disease_name: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
gene_symbol: TNF
disease_id: OMIM:157300
disease_name: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
gene_symbol: RLBP1
disease_id: ORPHA:52427
disease_name: Retinitis punctata albescens
RPA
gene_symbol: RLBP1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RHO
disease_id: ORPHA:52427
disease_name: Retinitis punctata albescens
RPA
gene_symbol: RHO
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RDH5
disease_id: ORPHA:52427
disease_name: Retinitis punctata albescens
RPA
gene_symbol: HK1
disease_id: OMIM:617460
disease_name: RETINITIS PIGMENTOSA 79
gene_symbol: HPS6
disease_id: OMIM:614075
disease_name: HERMANSKY-PUDLAK SYNDROME 6
gene_symbol: KRT12
disease_id: OMIM:122100
disease_name: CORNEAL DYSTROPHY, MEESMANN, 1
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: MCOLN1
disease_id: ORPHA:578
disease_name: Mucolipidosis type IV
gene_symbol: MCOLN1
disease_id: OMIM:252650
disease_name: MUCOLIPIDOSIS IV
gene_symbol: NR2E3
disease_id: OMIM:611131
disease_name: RETINITIS PIGMENTOSA 37
gene_symbol: NR2E3
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: SLC6A19
disease_id: ORPHA:2116
disease_name: Hartnup disease
Aminoaciduria, Hartnup type
Hartnup disorder
gene_symbol: CLTRN
disease_id: ORPHA:2116
disease_name: Hartnup disease
Aminoaciduria, Hartnup type
Hartnup disorder
gene_symbol: WDR45
disease_id: OMIM:615179
disease_name: ALBINISM, OCULOCUTANEOUS, TYPE VII
gene_symbol: LRMDA
disease_id: OMIM:615179
disease_name: ALBINISM, OCULOCUTANEOUS, TYPE VII
gene_symbol: ANTXR1
disease_id: OMIM:230740
disease_name: GAPO SYNDROME
gene_symbol: CEP78
disease_id: OMIM:617236
disease_name: CONE-ROD DYSTROPHY AND HEARING LOSS 1
gene_symbol: DCN
disease_id: OMIM:610048
disease_name: CORNEAL DYSTROPHY, CONGENITAL STROMAL
gene_symbol: GTF2H5
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: CARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC2
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC2
disease_id: OMIM:601675
disease_name: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE
gene_symbol: ERCC2
disease_id: OMIM:278730
disease_name: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D
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: ERCC3
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC3
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: GTF2E2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: FOXC2
disease_id: ORPHA:33001
disease_name: Lymphedema-distichiasis syndrome
gene_symbol: FOXC2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: NOD2
disease_id: ORPHA:90340
disease_name: Blau syndrome
gene_symbol: POLH
disease_id: ORPHA:90342
disease_name: Xeroderma pigmentosum variant
XPV
gene_symbol: POLH
disease_id: OMIM:278750
disease_name: XERODERMA PIGMENTOSUM, VARIANT TYPE
gene_symbol: ATXN7
disease_id: ORPHA:94147
disease_name: Spinocerebellar ataxia type 7
Ataxia with pigmentary retinopathy
Cerebellar syndrome-pigmentary maculopathy syndrome
SCA7
gene_symbol: AP3D1
disease_id: ORPHA:54
disease_name: X-linked recessive ocular albinism
OA1
Ocular albinism type 1
Ocular albinism, Nettleship-Falls type
XLOA
gene_symbol: AP3D1
disease_id: ORPHA:1000
disease_name: Ocular albinism with late-onset sensorineural deafness
Ocular albinism with late-onset sensorineural hearing loss
gene_symbol: GPR143
disease_id: ORPHA:54
disease_name: X-linked recessive ocular albinism
OA1
Ocular albinism type 1
Ocular albinism, Nettleship-Falls type
XLOA
gene_symbol: GPR143
disease_id: OMIM:300500
disease_name: ALBINISM, OCULAR, TYPE I
gene_symbol: OFD1
disease_id: OMIM:300424
disease_name: RETINITIS PIGMENTOSA 23
gene_symbol: OFD1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: NSD1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RASA2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: MAP2K2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: CBL
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: MAPK1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: PROX1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: SVEP1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: ANGPT2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: LZTR1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: NF1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RAC1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: FAT4
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: EPHB4
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: PTPN11
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: HRAS
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: ABCC9
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: PMM2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: DCHS1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: SPRED1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: CELSR1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: MRAS
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RELN
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: CDC42
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: PIEZO1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: NRAS
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: GATA2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RORC
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: SOS1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RAF1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: NAGA
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: NRP1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: LYVE1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: TSC2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: SHOC2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RRAS2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: SPRED2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: KIF11
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: BRAF
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RIT1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RRAS
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: FLT4
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: ARAP3
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: SOX18
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: PPP1CB
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: GJC2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: TSC1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: TIE1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: ADAMTS3
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: ERG
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RASA1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: MAP2K1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: SOS2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: SHANK3
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: FBXL7
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: KRAS
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: NRP2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: MDFIC
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: CHD5
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: VEGFC
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: CCBE1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: GJA1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: GJA1
disease_id: ORPHA:1010
disease_name: Autosomal dominant palmoplantar keratoderma and congenital alopecia
Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia
PPK-CA, Stevanovic type
Palmoplantar keratoderma and congenital alopecia, Stevanovic type
gene_symbol: PTPN14
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: KIF7
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: FAS
disease_id: ORPHA:3437
disease_name: Vogt-Koyanagi-Harada disease
Uveomenigitic syndrome
gene_symbol: FAS
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: PTPN22
disease_id: ORPHA:3437
disease_name: Vogt-Koyanagi-Harada disease
Uveomenigitic syndrome
gene_symbol: HLA-DRB1
disease_id: ORPHA:3437
disease_name: Vogt-Koyanagi-Harada disease
Uveomenigitic syndrome
gene_symbol: HLA-DRB1
disease_id: OMIM:181000
disease_name: SARCOIDOSIS, SUSCEPTIBILITY TO, 1
gene_symbol: OVOL2
disease_id: OMIM:122000
disease_name: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1
gene_symbol: OVOL2
disease_id: ORPHA:98973
disease_name: Posterior polymorphous corneal dystrophy
PPCD
Posterior polymorphous dystrophy
Schlichting dystrophy
gene_symbol: SAT1
disease_id: ORPHA:2340
disease_name: Keratosis follicularis spinulosa decalvans
gene_symbol: LRP1
disease_id: ORPHA:2340
disease_name: Keratosis follicularis spinulosa decalvans
gene_symbol: CYP1B1
disease_id: ORPHA:98976
disease_name: Congenital glaucoma
Buphthalmia
Buphthalmos
Buphthalmus
Primary congenital glaucoma
gene_symbol: MYOC
disease_id: ORPHA:98976
disease_name: Congenital glaucoma
Buphthalmia
Buphthalmos
Buphthalmus
Primary congenital glaucoma
gene_symbol: TEK
disease_id: ORPHA:98976
disease_name: Congenital glaucoma
Buphthalmia
Buphthalmos
Buphthalmus
Primary congenital glaucoma
gene_symbol: SCN1A
disease_id: OMIM:609634
disease_name: MIGRAINE, FAMILIAL HEMIPLEGIC, 3
gene_symbol: MC1R
disease_id: ORPHA:79432
disease_name: Oculocutaneous albinism type 2
OCA2
gene_symbol: OCA2
disease_id: ORPHA:79432
disease_name: Oculocutaneous albinism type 2
OCA2
gene_symbol: ZEB1
disease_id: ORPHA:98973
disease_name: Posterior polymorphous corneal dystrophy
PPCD
Posterior polymorphous dystrophy
Schlichting dystrophy
gene_symbol: VSX1
disease_id: ORPHA:98973
disease_name: Posterior polymorphous corneal dystrophy
PPCD
Posterior polymorphous dystrophy
Schlichting dystrophy
gene_symbol: GRHL2
disease_id: ORPHA:98973
disease_name: Posterior polymorphous corneal dystrophy
PPCD
Posterior polymorphous dystrophy
Schlichting dystrophy
gene_symbol: COL8A2
disease_id: ORPHA:98973
disease_name: Posterior polymorphous corneal dystrophy
PPCD
Posterior polymorphous dystrophy
Schlichting dystrophy
gene_symbol: XPA
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: XPC
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: XPC
disease_id: OMIM:278720
disease_name: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
gene_symbol: DDB2
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: DDB2
disease_id: OMIM:278740
disease_name: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
gene_symbol: ERCC5
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: SLC45A2
disease_id: ORPHA:79435
disease_name: Oculocutaneous albinism type 4
OCA4
gene_symbol: IL23R
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: STAT4
disease_id: ORPHA:117
disease_name: Behçet disease
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: 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: HLA-B
disease_id: ORPHA:29207
disease_name: Reactive arthritis
Fiessinger-Leroy disease
gene_symbol: HLA-B
disease_id: ORPHA:36426
disease_name: Stevens-Johnson syndrome
Dermatostomatitis, Stevens Johnson type
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: REEP6
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ROM1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CLRN1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ZNF513
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ARL2BP
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
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: EYS
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: EYS
disease_id: OMIM:602772
disease_name: RETINITIS PIGMENTOSA 25
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: 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: 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: 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: USH2A
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: RP9
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: FAM161A
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: POMGNT1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: ARL3
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PDE6A
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: TOPORS
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: TMEM216
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: CC2D2A
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
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: BEST1
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: DHX38
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: PDE6B
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: RP2
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: KIZ
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: NRL
disease_id: ORPHA:791
disease_name: Retinitis pigmentosa
gene_symbol: PRPF8
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: RGS9
disease_id: OMIM:608415
disease_name: PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION
gene_symbol: RGS9
disease_id: ORPHA:75374
disease_name: Bradyopsia
PERRS
Prolonged electroretinal response suppression
gene_symbol: TP63
disease_id: OMIM:604292
disease_name: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
gene_symbol: TP63
disease_id: ORPHA:1896
disease_name: EEC syndrome
Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome
gene_symbol: SLC39A4
disease_id: ORPHA:37
disease_name: Acrodermatitis enteropathica
AEZ
Acrodermatitis enteropathica, zinc deficiency type
Inherited zinc deficiency
gene_symbol: C1QTNF5
disease_id: ORPHA:67042
disease_name: Late-onset retinal degeneration
Autosomal dominant late-onset retinal degeneration
LORD
gene_symbol: MFRP
disease_id: OMIM:611040
disease_name: MICROPHTHALMIA, ISOLATED 5
gene_symbol: NLRP1
disease_id: OMIM:617388
disease_name: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS
gene_symbol: GNB3
disease_id: OMIM:617024
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H
gene_symbol: RTN4IP1
disease_id: OMIM:616732
disease_name: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES
gene_symbol: CEP250
disease_id: OMIM:618358
disease_name: CONE-ROD DYSTROPHY AND HEARING LOSS 2
gene_symbol: OPN1SW
disease_id: ORPHA:88629
disease_name: Tritanopia
Blue colour blindness
Congenital tritanopia
Tritan colour blindness
gene_symbol: IKZF1
disease_id: ORPHA:36426
disease_name: Stevens-Johnson syndrome
Dermatostomatitis, Stevens Johnson type
gene_symbol: ST14
disease_id: OMIM:602400
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11
gene_symbol: TAT
disease_id: ORPHA:28378
disease_name: Tyrosinemia type 2
Keratosis palmoplantaris-corneal dystrophy syndrome
Oculocutaneous tyrosinemia
Richner-Hanhart syndrome
Tyrosinemia due to TAT deficiency
Tyrosinemia due to tyrosine aminotransferase deficiency
Tyrosinemia type II
gene_symbol: ITM2B
disease_id: OMIM:616079
disease_name: RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES
gene_symbol: ELOVL4
disease_id: OMIM:614457
disease_name: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION
gene_symbol: EFEMP1
disease_id: ORPHA:75376
disease_name: Familial drusen
DHRD
Dominant drusen
Dominant radial drusen
Doyne honeycomb retinal dystrophy
Malattia leventinese
gene_symbol: CFH
disease_id: ORPHA:75376
disease_name: Familial drusen
DHRD
Dominant drusen
Dominant radial drusen
Doyne honeycomb retinal dystrophy
Malattia leventinese
gene_symbol: CFI
disease_id: ORPHA:75376
disease_name: Familial drusen
DHRD
Dominant drusen
Dominant radial drusen
Doyne honeycomb retinal dystrophy
Malattia leventinese
gene_symbol: RGS9BP
disease_id: ORPHA:75374
disease_name: Bradyopsia
PERRS
Prolonged electroretinal response suppression
gene_symbol: RGS9BP
disease_id: OMIM:620344
disease_name: PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION 2
gene_symbol: NOTCH2NLC
disease_id: OMIM:619473
disease_name: OCULOPHARYNGODISTAL MYOPATHY 3
gene_symbol: PAX6
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: FOXC1
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: TRIM44
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: NLRP3
disease_id: OMIM:148200
disease_name: KERATOENDOTHELIITIS FUGAX HEREDITARIA
gene_symbol: HPS1
disease_id: OMIM:203300
disease_name: HERMANSKY-PUDLAK SYNDROME 1
gene_symbol: COL17A1
disease_id: ORPHA:293381
disease_name: Epithelial recurrent erosion dystrophy
Dystrophia Helsinglandica
Dystrophia Smolandiensis
ERED
Recurrent hereditary corneal erosions
gene_symbol: COL17A1
disease_id: OMIM:122400
disease_name: EPITHELIAL RECURRENT EROSION DYSTROPHY
gene_symbol: CABP4
disease_id: OMIM:610427
disease_name: CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE
gene_symbol: MCAT
disease_id: OMIM:620583
disease_name: OPTIC ATROPHY 15
gene_symbol: POLA1
disease_id: OMIM:301220
disease_name: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED
gene_symbol: DKK1
disease_id: ORPHA:268882
disease_name: Arnold-Chiari malformation type I
Arnold-Chiari malformation type 1
Chiari malformation type 1
Chiari malformation type I
gene_symbol: GUSB
disease_id: OMIM:253220
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE VII
gene_symbol: GALC
disease_id: ORPHA:206436
disease_name: Infantile Krabbe disease
Krabbe disease, classic form
Krabbe disease, early-onset
gene_symbol: PSAP
disease_id: ORPHA:206436
disease_name: Infantile Krabbe disease
Krabbe disease, classic form
Krabbe disease, early-onset
gene_symbol: GAN
disease_id: OMIM:256850
disease_name: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE
gene_symbol: HADHA
disease_id: ORPHA:5
disease_name: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
LCHAD deficiency
LCHADD
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
gene_symbol: CLCC1
disease_id: OMIM:609913
disease_name: RETINITIS PIGMENTOSA 32
gene_symbol: RIMS2
disease_id: OMIM:618970
disease_name: CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE
gene_symbol: AFG3L2
disease_id: OMIM:618977
disease_name: OPTIC ATROPHY 12
gene_symbol: KRT5
disease_id: ORPHA:79396
disease_name: Autosomal dominant generalized epidermolysis bullosa simplex, severe form
Autosomal dominant generalized EBS, severe form
Epidermolysis bullosa simplex herpetiformis
Epidermolysis bullosa simplex, Dowling-Meara type
gene_symbol: KRT14
disease_id: ORPHA:79396
disease_name: Autosomal dominant generalized epidermolysis bullosa simplex, severe form
Autosomal dominant generalized EBS, severe form
Epidermolysis bullosa simplex herpetiformis
Epidermolysis bullosa simplex, Dowling-Meara type
gene_symbol: PSEN1
disease_id: OMIM:600274
disease_name: FRONTOTEMPORAL DEMENTIA
gene_symbol: PSEN1
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: PSEN1
disease_id: OMIM:172700
disease_name: PICK DISEASE OF BRAIN
gene_symbol: CHMP2B
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: CHMP2B
disease_id: OMIM:600795
disease_name: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7
gene_symbol: GRN
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: GRN
disease_id: OMIM:607485
disease_name: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
gene_symbol: TMEM106B
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: SQSTM1
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: TREM2
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: VCP
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: PRNP
disease_id: OMIM:606688
disease_name: SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
gene_symbol: SNRPN
disease_id: ORPHA:411515
disease_name: Angelman syndrome due to imprinting defect in 15q11-q13
gene_symbol: UBE3A
disease_id: ORPHA:411515
disease_name: Angelman syndrome due to imprinting defect in 15q11-q13
gene_symbol: ATP10A
disease_id: ORPHA:411515
disease_name: Angelman syndrome due to imprinting defect in 15q11-q13
gene_symbol: CRLS1
disease_id: OMIM:620167
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57
gene_symbol: DCTN1
disease_id: OMIM:168605
disease_name: PERRY SYNDROME
gene_symbol: EP300
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: CREBBP
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: STX1A
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: CLIP2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: DNAJC30
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: FKBP6
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: RFC2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2I
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: LIMK1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2IRD1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: VPS37D
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: METTL27
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: BUD23
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: EIF4H
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2IRD2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: TBL2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: NCF1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: TMEM270
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: BAZ1B
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: ELN
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: ELN
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: MLXIPL
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: TRIO
disease_id: OMIM:617061
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY
gene_symbol: HEXB
disease_id: ORPHA:309155
disease_name: Sandhoff disease, infantile form
Beta-hexosaminidase subunit beta deficiency, infantile form
GM2 gangliosidosis, Sandhoff variant, infantile form
GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form
gene_symbol: PPM1D
disease_id: OMIM:617450
disease_name: JANSEN-DE VRIES SYNDROME
gene_symbol: GM2A
disease_id: ORPHA:309246
disease_name: GM2 gangliosidosis, AB variant
Hexosaminidase activator deficiency
gene_symbol: GM2A
disease_id: OMIM:272750
disease_name: GM2-GANGLIOSIDOSIS, AB VARIANT
gene_symbol: NAA60
disease_id: OMIM:620786
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE
gene_symbol: UBAP2L
disease_id: OMIM:620494
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES
gene_symbol: MFF
disease_id: ORPHA:485421
disease_name: MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome
Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome
gene_symbol: AUTS2
disease_id: OMIM:615834
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
gene_symbol: AUTS2
disease_id: ORPHA:352490
disease_name: Autism spectrum disorder due to AUTS2 deficiency
ASD due to AUTS2 deficiency
AUTS2 syndrome
gene_symbol: MYT1L
disease_id: ORPHA:647799
disease_name: MYT1L-related developmental delay-intellectual disability-obesity syndrome
MYT1L-associated neurodevelopmental disorder
gene_symbol: FLII
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: IQSEC2
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: DEAF1
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: TAF4
disease_id: OMIM:620450
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73
gene_symbol: RAI1
disease_id: OMIM:182290
disease_name: SMITH-MAGENIS SYNDROME
gene_symbol: PRKAR1B
disease_id: OMIM:619680
disease_name: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: RFX7
disease_id: OMIM:620330
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES
gene_symbol: BMS1
disease_id: ORPHA:1114
disease_name: Aplasia cutis congenita
gene_symbol: PLEC
disease_id: ORPHA:1114
disease_name: Aplasia cutis congenita
gene_symbol: UBA2
disease_id: ORPHA:1114
disease_name: Aplasia cutis congenita
gene_symbol: ITGB4
disease_id: ORPHA:1114
disease_name: Aplasia cutis congenita
gene_symbol: DLL4
disease_id: ORPHA:1114
disease_name: Aplasia cutis congenita
gene_symbol: CDKL5
disease_id: ORPHA:505652
disease_name: CDKL5-deficiency disorder
CDD