TaoMedAI/RareMedData huggingface dataset:
Phenotype: Retinal neovascularization (HP:0030666)
Associated genes and diseases:
gene_symbol: CAPN5
disease_id: OMIM:193235
disease_name: VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY
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: LRRC32
disease_id: OMIM:619074
disease_name: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY
gene_symbol: BEST1
disease_id: OMIM:193220
disease_name: VITREORETINOCHOROIDOPATHY
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: TREX1
disease_id: ORPHA:247691
disease_name: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RVCL
RVCL-S
Retinal vasculopathy and cerebral leukoencephalopathy
Phenotype: Peripheral retinal neovascularization (HP:0030667)
Associated genes and diseases:
gene_symbol: CAPN5
disease_id: OMIM:193235
disease_name: VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY
Phenotype: Periorbital dermoid cyst (HP:0030668)
Associated genes and diseases:
gene_symbol: PAX1
disease_id: OMIM:615560
disease_name: OTOFACIOCERVICAL SYNDROME 2
Phenotype: Asteroid hyalosis (HP:0030672)
Associated genes and diseases:
gene_symbol: COL2A1
disease_id: OMIM:132450
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS
gene_symbol: ARL3
disease_id: OMIM:618173
disease_name: RETINITIS PIGMENTOSA 83
gene_symbol: PRPF8
disease_id: OMIM:600059
disease_name: RETINITIS PIGMENTOSA 13
gene_symbol: RPGRIP1
disease_id: OMIM:613826
disease_name: LEBER CONGENITAL AMAUROSIS 6
Phenotype: Satyr ear (HP:0030676)
Associated genes and diseases:
gene_symbol: PCGF2
disease_id: OMIM:618371
disease_name: TURNPENNY-FRY SYNDROME
gene_symbol: SALL1
disease_id: OMIM:107480
disease_name: TOWNES-BROCKS SYNDROME 1
Phenotype: Abnormal morphology of myocardial trabeculae (HP:0030681)
Associated genes and diseases:
gene_symbol: HCN4
disease_id: OMIM:163800
disease_name: SICK SINUS SYNDROME 2
gene_symbol: MIB1
disease_id: OMIM:615092
disease_name: LEFT VENTRICULAR NONCOMPACTION 7
gene_symbol: DTNA
disease_id: OMIM:604169
disease_name: LEFT VENTRICULAR NONCOMPACTION 1
gene_symbol: NONO
disease_id: OMIM:300967
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 34
gene_symbol: PRDM16
disease_id: OMIM:615373
disease_name: LEFT VENTRICULAR NONCOMPACTION 8
gene_symbol: MYBPC3
disease_id: OMIM:615396
disease_name: LEFT VENTRICULAR NONCOMPACTION 10
gene_symbol: SDHD
disease_id: OMIM:619167
disease_name: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3
gene_symbol: CALM2
disease_id: OMIM:616249
disease_name: LONG QT SYNDROME 15
gene_symbol: MIPEP
disease_id: OMIM:617228
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31
gene_symbol: COA6
disease_id: OMIM:616501
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13
gene_symbol: SCN5A
disease_id: ORPHA:1344
disease_name: Atrial standstill
Atrial cardiomyopathy with heart block
gene_symbol: NPPA
disease_id: ORPHA:1344
disease_name: Atrial standstill
Atrial cardiomyopathy with heart block
gene_symbol: SDHA
disease_id: OMIM:613642
disease_name: CARDIOMYOPATHY, DILATED, 1GG
gene_symbol: SDHA
disease_id: OMIM:252011
disease_name: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: ACTC1
disease_id: OMIM:613424
disease_name: CARDIOMYOPATHY, DILATED, 1R
gene_symbol: ACTN2
disease_id: OMIM:612158
disease_name: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION
gene_symbol: MYH7
disease_id: OMIM:613426
disease_name: CARDIOMYOPATHY, DILATED, 1S
gene_symbol: LDB3
disease_id: OMIM:601493
disease_name: CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION
gene_symbol: TNNT2
disease_id: OMIM:601494
disease_name: CARDIOMYOPATHY, DILATED, 1D
gene_symbol: VARS2
disease_id: OMIM:615917
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
gene_symbol: JUP
disease_id: OMIM:601214
disease_name: NAXOS DISEASE
Phenotype: Abnormal adiponectin level (HP:0030684)
Associated genes and diseases:
gene_symbol: CIDEC
disease_id: ORPHA:435651
disease_name: CIDEC-related familial partial lipodystrophy
CIDEC-related FPLD
FPLD5
gene_symbol: CIDEC
disease_id: OMIM:615238
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5
gene_symbol: LIPE
disease_id: ORPHA:435660
disease_name: LIPE-related familial partial lipodystrophy
FPLD6
LIPE-related FPLD
gene_symbol: LMNA
disease_id: ORPHA:280365
disease_name: Autosomal semi-dominant severe lipodystrophic laminopathy
gene_symbol: AKT2
disease_id: ORPHA:79085
disease_name: AKT2-related familial partial lipodystrophy
AKT2-related FPLD
gene_symbol: PCYT1A
disease_id: OMIM:620680
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 5
Phenotype: Decreased adiponectin level (HP:0030685)
Associated genes and diseases:
gene_symbol: CIDEC
disease_id: ORPHA:435651
disease_name: CIDEC-related familial partial lipodystrophy
CIDEC-related FPLD
FPLD5
gene_symbol: CIDEC
disease_id: OMIM:615238
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5
gene_symbol: LIPE
disease_id: ORPHA:435660
disease_name: LIPE-related familial partial lipodystrophy
FPLD6
LIPE-related FPLD
gene_symbol: LMNA
disease_id: ORPHA:280365
disease_name: Autosomal semi-dominant severe lipodystrophic laminopathy
gene_symbol: AKT2
disease_id: ORPHA:79085
disease_name: AKT2-related familial partial lipodystrophy
AKT2-related FPLD
gene_symbol: PCYT1A
disease_id: OMIM:620680
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 5
Phenotype: Abnormal glucagon level (HP:0030687)
Associated genes and diseases:
gene_symbol: GCGR
disease_id: OMIM:619290
disease_name: MAHVASH DISEASE
gene_symbol: GCGR
disease_id: ORPHA:438274
disease_name: GCGR-related hyperglucagonemia
Mahvash disease
gene_symbol: CDKN1B
disease_id: ORPHA:276152
disease_name: Multiple endocrine neoplasia type 4
MEN4
Phenotype: Increased glucagon level (HP:0030688)
Associated genes and diseases:
gene_symbol: GCGR
disease_id: OMIM:619290
disease_name: MAHVASH DISEASE
gene_symbol: GCGR
disease_id: ORPHA:438274
disease_name: GCGR-related hyperglucagonemia
Mahvash disease
gene_symbol: CDKN1B
disease_id: ORPHA:276152
disease_name: Multiple endocrine neoplasia type 4
MEN4
Phenotype: Left ventricular noncompaction (HP:0030682)
Associated genes and diseases:
gene_symbol: HCN4
disease_id: OMIM:163800
disease_name: SICK SINUS SYNDROME 2
gene_symbol: MIB1
disease_id: OMIM:615092
disease_name: LEFT VENTRICULAR NONCOMPACTION 7
gene_symbol: DTNA
disease_id: OMIM:604169
disease_name: LEFT VENTRICULAR NONCOMPACTION 1
gene_symbol: NONO
disease_id: OMIM:300967
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 34
gene_symbol: PRDM16
disease_id: OMIM:615373
disease_name: LEFT VENTRICULAR NONCOMPACTION 8
gene_symbol: MYBPC3
disease_id: OMIM:615396
disease_name: LEFT VENTRICULAR NONCOMPACTION 10
gene_symbol: SDHD
disease_id: OMIM:619167
disease_name: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3
gene_symbol: CALM2
disease_id: OMIM:616249
disease_name: LONG QT SYNDROME 15
gene_symbol: MIPEP
disease_id: OMIM:617228
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31
gene_symbol: COA6
disease_id: OMIM:616501
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13
gene_symbol: SCN5A
disease_id: ORPHA:1344
disease_name: Atrial standstill
Atrial cardiomyopathy with heart block
gene_symbol: NPPA
disease_id: ORPHA:1344
disease_name: Atrial standstill
Atrial cardiomyopathy with heart block
gene_symbol: SDHA
disease_id: OMIM:613642
disease_name: CARDIOMYOPATHY, DILATED, 1GG
gene_symbol: SDHA
disease_id: OMIM:252011
disease_name: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: ACTC1
disease_id: OMIM:613424
disease_name: CARDIOMYOPATHY, DILATED, 1R
gene_symbol: ACTN2
disease_id: OMIM:612158
disease_name: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION
gene_symbol: MYH7
disease_id: OMIM:613426
disease_name: CARDIOMYOPATHY, DILATED, 1S
gene_symbol: LDB3
disease_id: OMIM:601493
disease_name: CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION
gene_symbol: TNNT2
disease_id: OMIM:601494
disease_name: CARDIOMYOPATHY, DILATED, 1D
gene_symbol: VARS2
disease_id: OMIM:615917
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
Phenotype: Gingival cleft (HP:0030690)
Associated genes and diseases:
gene_symbol: HYLS1
disease_id: ORPHA:2189
disease_name: Hydrolethalus
gene_symbol: KIF7
disease_id: ORPHA:2189
disease_name: Hydrolethalus
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
Phenotype: Divergence nystagmus (HP:0030691)
Associated genes and diseases:
gene_symbol: PGAP1
disease_id: OMIM:615802
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42
Phenotype: Brain neoplasm (HP:0030692)
Associated genes and diseases:
gene_symbol: RB1
disease_id: OMIM:180200
disease_name: RETINOBLASTOMA
gene_symbol: POLE
disease_id: ORPHA:447877
disease_name: Polymerase proofreading-related adenomatous polyposis
PPAP
gene_symbol: POLD1
disease_id: ORPHA:447877
disease_name: Polymerase proofreading-related adenomatous polyposis
PPAP
gene_symbol: NF1
disease_id: ORPHA:97685
disease_name: 17q11 microdeletion syndrome
Del(17)(q11)
Monosomy 17q11
NF1 microdeletion syndrome
Neurofibromatosis type 1 microdeletion syndrome
gene_symbol: FLI1
disease_id: ORPHA:370348
disease_name: Peripheral primitive neuroectodermal tumor
PPNET
Peripheral PNET
Peripheral neuroepithelioma
gene_symbol: COL14A1
disease_id: ORPHA:79501
disease_name: Punctate palmoplantar keratoderma type 1
Buschke-Fischer-Brauer syndrome
Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type
PPKP1
gene_symbol: AAGAB
disease_id: ORPHA:79501
disease_name: Punctate palmoplantar keratoderma type 1
Buschke-Fischer-Brauer syndrome
Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type
PPKP1
gene_symbol: CHMP2B
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: PSEN1
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: GRN
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: TMEM106B
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: MAPT
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: TREM2
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: VCP
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: ZFTA
disease_id: ORPHA:251636
disease_name: Ependymoma
Classic ependymoma
Phenotype: Supratentorial neoplasm (HP:0030693)
Associated genes and diseases:
gene_symbol: RB1
disease_id: OMIM:180200
disease_name: RETINOBLASTOMA
gene_symbol: ZFTA
disease_id: ORPHA:251636
disease_name: Ependymoma
Classic ependymoma
Phenotype: Talar aplasia (HP:0033977)
Associated genes and diseases:
gene_symbol: EN1
disease_id: OMIM:619218
disease_name: ENDOVE SYNDROME, LIMB-BRAIN TYPE
Phenotype: Reduced beta-hexosaminidase B activity (HP:0033978)
Associated genes and diseases:
gene_symbol: HEXB
disease_id: ORPHA:309162
disease_name: Sandhoff disease, juvenile form
Beta-hexosaminidase subunit beta deficiency, juvenile form
GM2 gangliosidosis, Sandhoff variant, juvenile form
GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form
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: HEXB
disease_id: ORPHA:309169
disease_name: Sandhoff disease, adult form
Beta-hexosaminidase subunit beta deficiency, adult form
GM2 gangliosidosis, Sandhoff variant, adult form
GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form
gene_symbol: HEXB
disease_id: OMIM:268800
disease_name: SANDHOFF DISEASE
Phenotype: Paroxysmal tonic upgaze (HP:0033980)
Associated genes and diseases:
gene_symbol: SALL4
disease_id: OMIM:147750
disease_name: IVIC SYNDROME
gene_symbol: SEPSECS
disease_id: OMIM:613811
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D
Phenotype: Vertebral artery tortuosity (HP:0033981)
Associated genes and diseases:
gene_symbol: SMAD2
disease_id: OMIM:619656
disease_name: LOEYS-DIETZ SYNDROME 6
gene_symbol: COL5A1
disease_id: OMIM:619329
disease_name: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL
Phenotype: Celiac artery dissection (HP:0033982)
Associated genes and diseases:
gene_symbol: COL5A1
disease_id: OMIM:619329
disease_name: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL
Phenotype: Decreased circulating apolipoprotein C-II concentration (HP:0033983)
Associated genes and diseases:
gene_symbol: APOC2
disease_id: OMIM:207750
disease_name: APOLIPOPROTEIN C-II DEFICIENCY
Phenotype: Increased urinary 8-oxo-7,8-dihydroguanosine level (HP:0033984)
Associated genes and diseases:
gene_symbol: CHUK
disease_id: OMIM:613630
disease_name: FETAL ENCASEMENT SYNDROME
Phenotype: Elongated femoral neck (HP:0033985)
Associated genes and diseases:
gene_symbol: LYSET
disease_id: OMIM:619345
disease_name: DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE
Phenotype: Tortuous lymphatic vessels (HP:0033986)
Associated genes and diseases:
gene_symbol: CELSR1
disease_id: OMIM:619319
disease_name: LYMPHATIC MALFORMATION 9
Phenotype: Chronotropic incompetence (HP:0033992)
Associated genes and diseases:
gene_symbol: HCN4
disease_id: OMIM:163800
disease_name: SICK SINUS SYNDROME 2
gene_symbol: GNB2
disease_id: OMIM:619464
disease_name: SICK SINUS SYNDROME 4
Phenotype: Viral encephalitis (HP:0033993)
Associated genes and diseases:
gene_symbol: NCKAP1L
disease_id: OMIM:618982
disease_name: IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION
gene_symbol: STAT1
disease_id: OMIM:614892
disease_name: IMMUNODEFICIENCY 31A
gene_symbol: STAT1
disease_id: OMIM:613796
disease_name: IMMUNODEFICIENCY 31B
gene_symbol: SNORA31
disease_id: OMIM:619396
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 10
gene_symbol: TLR3
disease_id: OMIM:613002
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 2
gene_symbol: HYOU1
disease_id: OMIM:233600
disease_name: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA
gene_symbol: IRF3
disease_id: OMIM:616532
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7
gene_symbol: TICAM1
disease_id: OMIM:614850
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6
gene_symbol: UNC93B1
disease_id: OMIM:610551
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 1
gene_symbol: TBK1
disease_id: OMIM:617900
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8
gene_symbol: TBK1
disease_id: OMIM:620880
disease_name: OMIM:620880
gene_symbol: TRAF3
disease_id: OMIM:614849
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 5
gene_symbol: CD27
disease_id: OMIM:615122
disease_name: LYMPHOPROLIFERATIVE SYNDROME 2
gene_symbol: DBR1
disease_id: OMIM:619441
disease_name: ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11
gene_symbol: CD40LG
disease_id: OMIM:308230
disease_name: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1
Phenotype: Dependency on parenteral nutrition (HP:0033994)
Associated genes and diseases:
gene_symbol: SLC9A3
disease_id: OMIM:616868
disease_name: DIARRHEA 8, SECRETORY SODIUM, CONGENITAL
gene_symbol: STX3
disease_id: OMIM:619445
disease_name: DIARRHEA 12, WITH MICROVILLUS ATROPHY
gene_symbol: FOCAD
disease_id: OMIM:619991
disease_name: LIVER DISEASE, SEVERE CONGENITAL
Phenotype: Microvillus inclusions (HP:0033995)
Associated genes and diseases:
gene_symbol: STX3
disease_id: OMIM:619445
disease_name: DIARRHEA 12, WITH MICROVILLUS ATROPHY
Phenotype: Microvillar PAS-positive secretory granules (HP:0033996)
Associated genes and diseases:
gene_symbol: STX3
disease_id: OMIM:619445
disease_name: DIARRHEA 12, WITH MICROVILLUS ATROPHY
Phenotype: Perinuclear cardiomyocyte vacuolization (HP:0033997)
Associated genes and diseases:
gene_symbol: RPL3L
disease_id: OMIM:619371
disease_name: CARDIOMYOPATHY, DILATED, 2D
Phenotype: Verruca plana (HP:0550004)
Associated genes and diseases:
gene_symbol: CD28
disease_id: OMIM:620901
disease_name: OMIM:620901
gene_symbol: TMC8
disease_id: OMIM:618231
disease_name: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2
Phenotype: Premature birth following premature rupture of fetal membranes (HP:0005100)
Associated genes and diseases:
gene_symbol: COL5A1
disease_id: OMIM:130000
disease_name: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
Phenotype: High-frequency hearing impairment (HP:0005101)
Associated genes and diseases:
gene_symbol: MYH9
disease_id: OMIM:603622
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 17
gene_symbol: SMPX
disease_id: OMIM:300066
disease_name: DEAFNESS, X-LINKED 4
gene_symbol: LMX1A
disease_id: OMIM:601412
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 7
gene_symbol: GJB3
disease_id: OMIM:612644
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 2B
gene_symbol: DSPP
disease_id: OMIM:605594
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1
gene_symbol: AP1S2
disease_id: OMIM:304340
disease_name: PETTIGREW SYNDROME
gene_symbol: RPGR
disease_id: OMIM:300455
disease_name: RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS
gene_symbol: POLRMT
disease_id: OMIM:619743
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55
Phenotype: Calcification of the auricular cartilage (HP:0005103)
Associated genes and diseases:
gene_symbol: ZBTB20
disease_id: OMIM:259050
disease_name: PRIMROSE SYNDROME
gene_symbol: ZBTB20
disease_id: ORPHA:3042
disease_name: Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
Primrose syndrome
gene_symbol: MGP
disease_id: OMIM:245150
disease_name: KEUTEL SYNDROME
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:51608
disease_name: Generalized arterial calcification of infancy
Idiopathic infantile arterial calcification
Idiopathic obliterative arteriopathy
Infantile arteriosclerosis
Occlusive infantile arteriopathy
Phenotype: Hypoplastic nasal septum (HP:0005104)
Associated genes and diseases:
gene_symbol: PTCH1
disease_id: OMIM:610828
disease_name: HOLOPROSENCEPHALY 7
gene_symbol: NOG
disease_id: OMIM:186500
disease_name: MULTIPLE SYNOSTOSES SYNDROME 1
gene_symbol: FLNB
disease_id: OMIM:112310
disease_name: BOOMERANG DYSPLASIA
Phenotype: Elevated diastolic blood pressure (HP:0005117)
Associated genes and diseases:
gene_symbol: FLT1
disease_id: ORPHA:275555
disease_name: Preeclampsia
gene_symbol: STOX1
disease_id: ORPHA:275555
disease_name: Preeclampsia
gene_symbol: CORIN
disease_id: ORPHA:275555
disease_name: Preeclampsia
gene_symbol: NOS3
disease_id: OMIM:145500
disease_name: HYPERTENSION, ESSENTIAL
gene_symbol: ECE1
disease_id: OMIM:145500
disease_name: HYPERTENSION, ESSENTIAL
gene_symbol: PTGIS
disease_id: OMIM:145500
disease_name: HYPERTENSION, ESSENTIAL
gene_symbol: CYP3A5
disease_id: OMIM:145500
disease_name: HYPERTENSION, ESSENTIAL
gene_symbol: GNB3
disease_id: OMIM:145500
disease_name: HYPERTENSION, ESSENTIAL
gene_symbol: ATP1B1
disease_id: OMIM:145500
disease_name: HYPERTENSION, ESSENTIAL
gene_symbol: RGS5
disease_id: OMIM:145500
disease_name: HYPERTENSION, ESSENTIAL
gene_symbol: ADD1
disease_id: OMIM:145500
disease_name: HYPERTENSION, ESSENTIAL
gene_symbol: AGTR1
disease_id: OMIM:145500
disease_name: HYPERTENSION, ESSENTIAL
Phenotype: Posterior scalloping of vertebral bodies (HP:0005121)
Associated genes and diseases:
gene_symbol: NANS
disease_id: OMIM:610442
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE
gene_symbol: ZBTB20
disease_id: OMIM:259050
disease_name: PRIMROSE SYNDROME
gene_symbol: ZBTB20
disease_id: ORPHA:3042
disease_name: Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
Primrose syndrome
gene_symbol: KIF22
disease_id: OMIM:603546
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2
gene_symbol: GNPNAT1
disease_id: OMIM:619598
disease_name: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE
gene_symbol: ARSK
disease_id: OMIM:619698
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE X
Phenotype: Congenital hypertrophy of left ventricle (HP:0005129)
Associated genes and diseases:
gene_symbol: ABCC9
disease_id: OMIM:239850
disease_name: CANTU SYNDROME
Phenotype: Onycholysis of distal fingernails (HP:0008400)
Associated genes and diseases:
gene_symbol: ITGB4
disease_id: OMIM:619816
disease_name: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE
Phenotype: Ridged fingernail (HP:0008402)
Associated genes and diseases:
gene_symbol: IKBKG
disease_id: ORPHA:464
disease_name: Incontinentia pigmenti
Bloch-Siemens syndrome
Bloch-Sulzberger syndrome
gene_symbol: DVL3
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: WNT5A
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: DVL1
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: FZD2
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: EFNB1
disease_id: ORPHA:1520
disease_name: Craniofrontonasal dysplasia
CFND
CFNS
Craniofrontonasal syndrome
gene_symbol: SLC39A4
disease_id: ORPHA:37
disease_name: Acrodermatitis enteropathica
AEZ
Acrodermatitis enteropathica, zinc deficiency type
Inherited zinc deficiency
gene_symbol: TINF2
disease_id: OMIM:268130
disease_name: REVESZ SYNDROME
gene_symbol: MSX1
disease_id: ORPHA:2228
disease_name: Hypodontia-dysplasia of nails syndrome
Hypodontia-nail dysgenesis syndrome
Tooth and nail syndrome
Witkop syndrome