TaoMedAI/RareMedData huggingface dataset:
Phenotype: Peripheral retinal avascularization (HP:0007685)
Associated genes and diseases:
gene_symbol: FZD4
disease_id: OMIM:133780
disease_name: EXUDATIVE VITREORETINOPATHY 1
gene_symbol: FZD4
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: LRP5
disease_id: OMIM:133780
disease_name: EXUDATIVE VITREORETINOPATHY 1
gene_symbol: LRP5
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: LRP5
disease_id: OMIM:601813
disease_name: EXUDATIVE VITREORETINOPATHY 4
gene_symbol: NDP
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: NDP
disease_id: OMIM:305390
disease_name: EXUDATIVE VITREORETINOPATHY 2, X-LINKED
gene_symbol: CTNNB1
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: TSPAN12
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: ZNF408
disease_id: ORPHA:891
disease_name: Familial exudative vitreoretinopathy
Criswick-Schepens syndrome
FEVR
gene_symbol: RTL1
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: DLK1
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
gene_symbol: MEG3
disease_id: ORPHA:96334
disease_name: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
UPD(14)pat
Phenotype: Unilateral ptosis (HP:0007687)
Associated genes and diseases:
gene_symbol: HEATR3
disease_id: OMIM:620072
disease_name: DIAMOND-BLACKFAN ANEMIA 21
gene_symbol: PUF60
disease_id: ORPHA:508498
disease_name: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene
gene_symbol: GPC4
disease_id: OMIM:301026
disease_name: KEIPERT SYNDROME
gene_symbol: SMS
disease_id: ORPHA:3063
disease_name: X-linked intellectual disability, Snyder type
Snyder-Robinson syndrome
gene_symbol: SMC1A
disease_id: OMIM:301044
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
gene_symbol: MED12L
disease_id: OMIM:618872
disease_name: NIZON-ISIDOR SYNDROME
gene_symbol: ANAPC7
disease_id: OMIM:619699
disease_name: FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME
gene_symbol: DDX59
disease_id: OMIM:174300
disease_name: OROFACIODIGITAL SYNDROME V
gene_symbol: WDR35
disease_id: OMIM:613610
disease_name: CRANIOECTODERMAL DYSPLASIA 2
gene_symbol: HOXB1
disease_id: OMIM:614744
disease_name: FACIAL PARESIS, HEREDITARY CONGENITAL, 3
gene_symbol: MID2
disease_id: OMIM:300928
disease_name: MENTAL RETARDATION, X-LINKED 101
gene_symbol: CAPN15
disease_id: OMIM:619318
disease_name: OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME
Phenotype: Map-dot-fingerprint corneal dystrophy (HP:0007690)
Associated genes and diseases:
gene_symbol: TGFBI
disease_id: OMIM:121820
disease_name: CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE
Phenotype: Hypoplasia of the lower eyelids (HP:0007697)
Associated genes and diseases:
gene_symbol: EIF5A
disease_id: OMIM:619376
disease_name: FAUNDES-BANKA SYNDROME
Phenotype: Tactile agnosia (HP:5200406)
Associated genes and diseases:
gene_symbol: ATP6AP2
disease_id: OMIM:300423
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE
gene_symbol: ATP6AP2
disease_id: ORPHA:93952
disease_name: X-linked intellectual disability, Hedera type
MRXSH
gene_symbol: ABCD1
disease_id: ORPHA:139396
disease_name: X-linked cerebral adrenoleukodystrophy
X-CALD
Phenotype: Abnormal mandibular ramus morphology (HP:3000003)
Associated genes and diseases:
gene_symbol: PLCB4
disease_id: OMIM:614669
disease_name: AURICULOCONDYLAR SYNDROME 2
gene_symbol: NFIX
disease_id: OMIM:602535
disease_name: MARSHALL-SMITH SYNDROME
gene_symbol: KCNJ2
disease_id: OMIM:170390
disease_name: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
gene_symbol: HMX1
disease_id: OMIM:612109
disease_name: OCULOAURICULAR SYNDROME
gene_symbol: EDN1
disease_id: ORPHA:137888
disease_name: Auriculocondylar syndrome
Question mark ear syndrome
gene_symbol: GNAI3
disease_id: ORPHA:137888
disease_name: Auriculocondylar syndrome
Question mark ear syndrome
gene_symbol: GNAI3
disease_id: OMIM:602483
disease_name: AURICULOCONDYLAR SYNDROME 1
Phenotype: Abnormal frontalis muscle physiology (HP:3000004)
Associated genes and diseases:
gene_symbol: SLC5A7
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: MYO9A
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: COL13A1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: CHAT
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SLC25A1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: VAMP1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: AGRN
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SYT2
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SLC18A3
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SNAP25
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
Phenotype: Abnormality of masseter muscle (HP:3000005)
Associated genes and diseases:
gene_symbol: CACNA1S
disease_id: ORPHA:423
disease_name: Malignant hyperthermia of anesthesia
Hyperthermia of anesthesia
gene_symbol: RYR1
disease_id: ORPHA:423
disease_name: Malignant hyperthermia of anesthesia
Hyperthermia of anesthesia
gene_symbol: RILPL1
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: ABCD3
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: GIPC1
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: LRP12
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: NOTCH2NLC
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: NUTM2B-AS1
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
Phenotype: Abnormality of orbicularis oris muscle (HP:3000010)
Associated genes and diseases:
gene_symbol: RILPL1
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: ABCD3
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: GIPC1
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: LRP12
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: NOTCH2NLC
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: NUTM2B-AS1
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
Phenotype: Abnormal buccal mucosa morphology (HP:3000019)
Associated genes and diseases:
gene_symbol: CYP26C1
disease_id: ORPHA:398189
disease_name: Focal facial dermal dysplasia type IV
FFDD type IV
FFDD4
Focal facial dermal dysplasia 4
Focal facial preauricular dysplasia
Phenotype: Abnormal external ear cartilage morphology (HP:3000022)
Associated genes and diseases:
gene_symbol: EDN1
disease_id: ORPHA:137888
disease_name: Auriculocondylar syndrome
Question mark ear syndrome
gene_symbol: PLCB4
disease_id: ORPHA:137888
disease_name: Auriculocondylar syndrome
Question mark ear syndrome
gene_symbol: GNAI3
disease_id: ORPHA:137888
disease_name: Auriculocondylar syndrome
Question mark ear syndrome
gene_symbol: ZNF462
disease_id: OMIM:618619
disease_name: WEISS-KRUSZKA SYNDROME
gene_symbol: TWIST1
disease_id: ORPHA:794
disease_name: Saethre-Chotzen syndrome
ACS3
Acrocephalosyndactyly type 3
SCS
gene_symbol: TWIST1
disease_id: OMIM:101400
disease_name: SAETHRE-CHOTZEN SYNDROME
gene_symbol: FGFR2
disease_id: ORPHA:794
disease_name: Saethre-Chotzen syndrome
ACS3
Acrocephalosyndactyly type 3
SCS
gene_symbol: FGFR2
disease_id: OMIM:101400
disease_name: SAETHRE-CHOTZEN SYNDROME
gene_symbol: FGFR3
disease_id: ORPHA:794
disease_name: Saethre-Chotzen syndrome
ACS3
Acrocephalosyndactyly type 3
SCS
gene_symbol: STEEP1
disease_id: OMIM:301013
disease_name: MENTAL RETARDATION, X-LINKED 107
gene_symbol: HS2ST1
disease_id: OMIM:619194
disease_name: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS
gene_symbol: DHX30
disease_id: OMIM:617804
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
gene_symbol: NSD2
disease_id: OMIM:619695
disease_name: RAUCH-STEINDL SYNDROME
gene_symbol: TCTN3
disease_id: ORPHA:2753
disease_name: Orofaciodigital syndrome type 4
Baraitser-Burn syndrome
Mohr-Majewski syndrome
OFD4
Oral-facial-digital syndrome type 4
Phenotype: Abnormality of central retinal artery (HP:3000032)
Associated genes and diseases:
gene_symbol: ADA2
disease_id: ORPHA:820
disease_name: Sneddon syndrome
Ehrmann-Sneddon syndrome
Livedo racemosa-cerebrovascular accident syndrome
Livedo reticularis-cerebrovascular accident syndrome
Phenotype: Abnormal nasopharyngeal adenoid morphology (HP:3000033)
Associated genes and diseases:
gene_symbol: RSPRY1
disease_id: ORPHA:457395
disease_name: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
gene_symbol: FBN1
disease_id: ORPHA:2623
disease_name: Geleophysic dysplasia
Geleophysic dwarfism
gene_symbol: LTBP3
disease_id: ORPHA:2623
disease_name: Geleophysic dysplasia
Geleophysic dwarfism
gene_symbol: ADAMTSL2
disease_id: ORPHA:2623
disease_name: Geleophysic dysplasia
Geleophysic dwarfism
gene_symbol: ZBTB7A
disease_id: OMIM:619769
disease_name: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN
Phenotype: Abnormality nasal septum cartilage morphology (HP:3000034)
Associated genes and diseases:
gene_symbol: PTCH1
disease_id: OMIM:610828
disease_name: HOLOPROSENCEPHALY 7
gene_symbol: TGIF1
disease_id: OMIM:142946
disease_name: HOLOPROSENCEPHALY 4
gene_symbol: SIX3
disease_id: OMIM:157170
disease_name: HOLOPROSENCEPHALY 2
gene_symbol: UBA1
disease_id: OMIM:301054
disease_name: VEXAS SYNDROME
Phenotype: Abnormal neck blood vessel morphology (HP:3000037)
Associated genes and diseases:
gene_symbol: FOXE1
disease_id: ORPHA:319487
disease_name: Familial papillary or follicular thyroid carcinoma
FNMTC
Familial pure nonmedullary thyroid carcinoma
gene_symbol: HABP2
disease_id: ORPHA:319487
disease_name: Familial papillary or follicular thyroid carcinoma
FNMTC
Familial pure nonmedullary thyroid carcinoma
gene_symbol: MINPP1
disease_id: ORPHA:319487
disease_name: Familial papillary or follicular thyroid carcinoma
FNMTC
Familial pure nonmedullary thyroid carcinoma
Phenotype: Iritis (HP:0001101)
Associated genes and diseases:
gene_symbol: HLA-B
disease_id: ORPHA:29207
disease_name: Reactive arthritis
Fiessinger-Leroy disease
gene_symbol: NOD2
disease_id: OMIM:186580
disease_name: BLAU SYNDROME
Phenotype: Angioid streaks of the fundus (HP:0001102)
Associated genes and diseases:
gene_symbol: TNFRSF11B
disease_id: OMIM:239000
disease_name: PAGET DISEASE OF BONE 5, JUVENILE-ONSET
gene_symbol: GALNT3
disease_id: OMIM:211900
disease_name: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
gene_symbol: PIK3CA
disease_id: OMIM:615108
disease_name: COWDEN SYNDROME 5
gene_symbol: AKT1
disease_id: OMIM:615109
disease_name: COWDEN SYNDROME 6
gene_symbol: PTEN
disease_id: OMIM:158350
disease_name: COWDEN SYNDROME 1
gene_symbol: ENPP1
disease_id: ORPHA:758
disease_name: Pseudoxanthoma elasticum
Gronblad-Strandberg-Touraine syndrome
PXE
gene_symbol: ENPP1
disease_id: ORPHA:51608
disease_name: Generalized arterial calcification of infancy
Idiopathic infantile arterial calcification
Idiopathic obliterative arteriopathy
Infantile arteriosclerosis
Occlusive infantile arteriopathy
gene_symbol: ABCC6
disease_id: ORPHA:758
disease_name: Pseudoxanthoma elasticum
Gronblad-Strandberg-Touraine syndrome
PXE
gene_symbol: ABCC6
disease_id: OMIM:177850
disease_name: PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE
gene_symbol: ABCC6
disease_id: OMIM:264800
disease_name: PSEUDOXANTHOMA ELASTICUM
gene_symbol: ABCC6
disease_id: ORPHA:51608
disease_name: Generalized arterial calcification of infancy
Idiopathic infantile arterial calcification
Idiopathic obliterative arteriopathy
Infantile arteriosclerosis
Occlusive infantile arteriopathy
gene_symbol: GGCX
disease_id: OMIM:610842
disease_name: PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY
gene_symbol: GGCX
disease_id: ORPHA:91135
disease_name: Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
PXE-like syndrome
Pseudoxanthoma elasticum-like syndrome
gene_symbol: XYLT1
disease_id: OMIM:264800
disease_name: PSEUDOXANTHOMA ELASTICUM
gene_symbol: XYLT2
disease_id: OMIM:264800
disease_name: PSEUDOXANTHOMA ELASTICUM
Phenotype: Macular hypoplasia (HP:0001104)
Associated genes and diseases:
gene_symbol: COL18A1
disease_id: OMIM:267750
disease_name: KNOBLOCH SYNDROME 1
gene_symbol: EPG5
disease_id: OMIM:242840
disease_name: VICI SYNDROME
gene_symbol: EBP
disease_id: OMIM:300960
disease_name: MEND SYNDROME
gene_symbol: LAMB2
disease_id: OMIM:614199
disease_name: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES
gene_symbol: LAMB2
disease_id: ORPHA:2670
disease_name: Pierson syndrome
Microcoria-congenital nephrosis syndrome
gene_symbol: LAMB2
disease_id: OMIM:609049
disease_name: PIERSON SYNDROME
gene_symbol: HPS6
disease_id: OMIM:614075
disease_name: HERMANSKY-PUDLAK SYNDROME 6
gene_symbol: DPYD
disease_id: ORPHA:1675
disease_name: Dihydropyrimidine dehydrogenase deficiency
Familial pyrimidinemia
gene_symbol: PAX6
disease_id: ORPHA:2334
disease_name: Autosomal dominant keratitis
Hereditary keratitis
gene_symbol: MPDZ
disease_id: OMIM:615219
disease_name: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES
gene_symbol: MAF
disease_id: OMIM:610202
disease_name: CATARACT 21, MULTIPLE TYPES
gene_symbol: LYST
disease_id: OMIM:214500
disease_name: CHEDIAK-HIGASHI SYNDROME
gene_symbol: SLC45A2
disease_id: OMIM:606574
disease_name: ALBINISM, OCULOCUTANEOUS, TYPE IV
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: 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: 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: HMX1
disease_id: OMIM:612109
disease_name: OCULOAURICULAR SYNDROME
Phenotype: Periorbital hyperpigmentation (HP:0001106)
Associated genes and diseases:
gene_symbol: EDARADD
disease_id: OMIM:224900
disease_name: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
gene_symbol: EDAR
disease_id: OMIM:224900
disease_name: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
gene_symbol: EDA
disease_id: OMIM:305100
disease_name: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED
gene_symbol: KIF15
disease_id: ORPHA:261323
disease_name: 21q22.11q22.12 microdeletion syndrome
Del(21)(q22.11q22.12)
Monosomy 21q22.11q22.12
Phenotype: Abnormal cricoid cartilage morphology (HP:3000038)
Associated genes and diseases:
gene_symbol: PUF60
disease_id: ORPHA:508488
disease_name: 8q24.3 microdeletion syndrome
Del(8)(q24.3)
Deletion 8q24.3
Monosomy 8q24.3
Phenotype: Hypopigmentation of the fundus (HP:0007894)
Associated genes and diseases:
gene_symbol: MTTP
disease_id: ORPHA:14
disease_name: Abetalipoproteinemia
Bassen-Kornzweig disease
Homozygous familial hypobetalipoproteinemia
gene_symbol: EPG5
disease_id: OMIM:242840
disease_name: VICI SYNDROME
gene_symbol: TYR
disease_id: OMIM:606952
disease_name: ALBINISM, OCULOCUTANEOUS, TYPE IB
gene_symbol: EDNRB
disease_id: OMIM:600501
disease_name: ABCD SYNDROME
gene_symbol: CHM
disease_id: OMIM:303100
disease_name: CHOROIDEREMIA
gene_symbol: CACNA1F
disease_id: OMIM:300600
disease_name: ALAND ISLAND EYE DISEASE
gene_symbol: CACNA1F
disease_id: ORPHA:178333
disease_name: Åland Islands eye disease
AIED
Forsius-Eriksson syndrome
Forsius-Eriksson type ocular albinism
gene_symbol: KIF7
disease_id: OMIM:200990
disease_name: ACROCALLOSAL SYNDROME
gene_symbol: BLOC1S6
disease_id: OMIM:614171
disease_name: HERMANSKY-PUDLAK SYNDROME 9
gene_symbol: PAX3
disease_id: OMIM:193500
disease_name: WAARDENBURG SYNDROME, TYPE 1
gene_symbol: GPR143
disease_id: OMIM:300814
disease_name: NYSTAGMUS 6, CONGENITAL, X-LINKED
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: SOX10
disease_id: OMIM:611584
disease_name: WAARDENBURG SYNDROME, TYPE 2E
gene_symbol: MITF
disease_id: OMIM:103500
disease_name: TIETZ ALBINISM-DEAFNESS SYNDROME
gene_symbol: MC1R
disease_id: OMIM:203200
disease_name: ALBINISM, OCULOCUTANEOUS, TYPE II
gene_symbol: OCA2
disease_id: OMIM:203200
disease_name: ALBINISM, OCULOCUTANEOUS, TYPE II
gene_symbol: COL4A1
disease_id: OMIM:175780
disease_name: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES
gene_symbol: SLC45A2
disease_id: OMIM:606574
disease_name: ALBINISM, OCULOCUTANEOUS, TYPE IV
gene_symbol: LAMB2
disease_id: OMIM:609049
disease_name: PIERSON SYNDROME
gene_symbol: PRPH2
disease_id: ORPHA:75377
disease_name: Central areolar choroidal dystrophy
Areolar atrophy of the macula
CACD
Central areolar choroidal sclerosis
gene_symbol: GUCY2D
disease_id: ORPHA:75377
disease_name: Central areolar choroidal dystrophy
Areolar atrophy of the macula
CACD
Central areolar choroidal sclerosis
gene_symbol: GUCA1A
disease_id: ORPHA:75377
disease_name: Central areolar choroidal dystrophy
Areolar atrophy of the macula
CACD
Central areolar choroidal sclerosis
gene_symbol: SLC25A15
disease_id: OMIM:238970
disease_name: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME
gene_symbol: GGCX
disease_id: ORPHA:436274
disease_name: Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
PXE-like syndrome with retinitis pigmentosa
gene_symbol: IFNG
disease_id: OMIM:613254
disease_name: TUBEROUS SCLEROSIS 2
gene_symbol: TSC2
disease_id: OMIM:613254
disease_name: TUBEROUS SCLEROSIS 2
gene_symbol: TSC1
disease_id: OMIM:191100
disease_name: TUBEROUS SCLEROSIS 1
Phenotype: Posterior polar cataract (HP:0001115)
Associated genes and diseases:
gene_symbol: PITX3
disease_id: OMIM:107250
disease_name: ANTERIOR SEGMENT DYSGENESIS 1
gene_symbol: CRYAB
disease_id: OMIM:613763
disease_name: CATARACT 16, MULTIPLE TYPES
gene_symbol: ZBTB20
disease_id: OMIM:259050
disease_name: PRIMROSE SYNDROME
gene_symbol: ITM2B
disease_id: OMIM:117300
disease_name: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2
gene_symbol: APC
disease_id: ORPHA:261584
disease_name: Familial adenomatous polyposis due to 5q22.2 microdeletion
Colorectal adenomatous polyposis due to monosomy 5q22.2
FAP due to monosomy 5q22.2
Familial adenomatous polyposis due to del(5)(q22.2)
Familial adenomatous polyposis due to monosomy 5q22.2
Familial polyposis coli due to monosomy 5q22.2
gene_symbol: EPHA2
disease_id: OMIM:116600
disease_name: CATARACT 6, MULTIPLE TYPES
gene_symbol: BBS2
disease_id: OMIM:616562
disease_name: RETINITIS PIGMENTOSA 74
gene_symbol: VIM
disease_id: OMIM:116300
disease_name: CATARACT 30, MULTIPLE TYPES
Phenotype: Macular coloboma (HP:0001116)
Associated genes and diseases:
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: OMIM:608553
disease_name: LEBER CONGENITAL AMAUROSIS 9
gene_symbol: PRPS1
disease_id: ORPHA:423479
disease_name: X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
gene_symbol: LRAT
disease_id: ORPHA:364055
disease_name: Severe early-childhood-onset retinal dystrophy
EOSRD
Early-onset severe retinal dystrophy
SECORD
gene_symbol: SPATA7
disease_id: ORPHA:364055
disease_name: Severe early-childhood-onset retinal dystrophy
EOSRD
Early-onset severe retinal dystrophy
SECORD
gene_symbol: RPE65
disease_id: ORPHA:364055
disease_name: Severe early-childhood-onset retinal dystrophy
EOSRD
Early-onset severe retinal dystrophy
SECORD
gene_symbol: LCA5
disease_id: ORPHA:364055
disease_name: Severe early-childhood-onset retinal dystrophy
EOSRD
Early-onset severe retinal dystrophy
SECORD
gene_symbol: CLDN19
disease_id: ORPHA:2196
disease_name: Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
FHHNC with severe ocular involvement
Hypercalciuria-bilateral macular coloboma syndrome
Meier-Blumberg-Imahorn syndrome
gene_symbol: CLDN19
disease_id: OMIM:248190
disease_name: HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT
gene_symbol: TENM3
disease_id: OMIM:615145
disease_name: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9
gene_symbol: DHX38
disease_id: OMIM:618220
disease_name: RETINITIS PIGMENTOSA 84
gene_symbol: MMACHC
disease_id: ORPHA:79282
disease_name: Methylmalonic acidemia with homocystinuria, type cblC
CblC defect
Cobalamin C defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC
Methylmalonic aciduria with homocystinuria, type cblC
gene_symbol: CRB1
disease_id: OMIM:613835
disease_name: LEBER CONGENITAL AMAUROSIS 8
Phenotype: Sudden loss of visual acuity (HP:0001117)
Associated genes and diseases:
gene_symbol: CDH23
disease_id: ORPHA:91347
disease_name: TSH-secreting pituitary adenoma
Pituitary thyrotrophic adenoma
TSH-oma
Thyroid stimulating hormone-secreting pituitary adenoma
Thyrotroph adenoma
gene_symbol: CDH23
disease_id: ORPHA:2965
disease_name: Prolactinoma
Lactotroph adenoma
PRL-secreting pituitary adenoma
PRLoma
Pituitary lactotrophic adenoma
Prolactin-secreting pituitary adenoma
gene_symbol: MEN1
disease_id: ORPHA:2965
disease_name: Prolactinoma
Lactotroph adenoma
PRL-secreting pituitary adenoma
PRLoma
Pituitary lactotrophic adenoma
Prolactin-secreting pituitary adenoma
gene_symbol: AIP
disease_id: ORPHA:2965
disease_name: Prolactinoma
Lactotroph adenoma
PRL-secreting pituitary adenoma
PRLoma
Pituitary lactotrophic adenoma
Prolactin-secreting pituitary adenoma
gene_symbol: CTNNB1
disease_id: ORPHA:54595
disease_name: Craniopharyngioma
gene_symbol: BRAF
disease_id: ORPHA:54595
disease_name: Craniopharyngioma