TaoMedAI/RareMedData huggingface dataset:
Phenotype: Heterophoria (HP:0032011)
Associated genes and diseases:
gene_symbol: TBX1
disease_id: OMIM:188400
disease_name: DIGEORGE SYNDROME
gene_symbol: MECR
disease_id: OMIM:617282
disease_name: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES
gene_symbol: MECR
disease_id: ORPHA:508093
disease_name: MEPAN syndrome
Autosomal recessive childhood-onset dystonia, DYT29 type
Childhood-onset generalized dystonia-optic atrophy syndrome
DYT29
Dystonia 29
Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome
gene_symbol: SCN8A
disease_id: OMIM:614306
disease_name: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA
gene_symbol: HOXB1
disease_id: OMIM:614744
disease_name: FACIAL PARESIS, HEREDITARY CONGENITAL, 3
gene_symbol: KIDINS220
disease_id: ORPHA:521390
disease_name: Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
SINO syndrome
gene_symbol: GJA8
disease_id: OMIM:612474
disease_name: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
gene_symbol: GJA5
disease_id: OMIM:612474
disease_name: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
gene_symbol: AFF4
disease_id: ORPHA:444077
disease_name: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
CHOPS syndrome
gene_symbol: HACE1
disease_id: ORPHA:464282
disease_name: Spastic paraplegia-severe developmental delay-epilepsy syndrome
SPPRS syndrome
Spastic paraplegia-psychomotor retardation-seizures syndrome
gene_symbol: TRAPPC11
disease_id: ORPHA:369840
disease_name: TRAPPC11-related limb-girdle muscular dystrophy R18
Autosomal recessive limb-girdle muscular dystrophy type 2S
LGMD type 2S
LGMD2S
Limb-girdle muscular dystrophy type 2S
TRAPPC11-related LGMD R18
gene_symbol: RNH1
disease_id: OMIM:620461
disease_name: ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12
Phenotype: Muscle eosinophilia (HP:0032019)
Associated genes and diseases:
gene_symbol: CAPN3
disease_id: OMIM:253600
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1
Phenotype: Eosinophilic liver infiltration (HP:0032021)
Associated genes and diseases:
gene_symbol: JAK1
disease_id: OMIM:618999
disease_name: AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA
Phenotype: Ileal ulcer (HP:0032024)
Associated genes and diseases:
gene_symbol: TNFAIP3
disease_id: OMIM:616744
disease_name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE
gene_symbol: SLC9A3
disease_id: OMIM:616868
disease_name: DIARRHEA 8, SECRETORY SODIUM, CONGENITAL
Phenotype: Reduced circulating alpha-1-antitrypsin concentration (HP:0032025)
Associated genes and diseases:
gene_symbol: SERPINA1
disease_id: ORPHA:60
disease_name: Alpha-1-antitrypsin deficiency
Alpha-1-proteinase inhibitor deficiency
Alpha1-antitrypsin deficiency
gene_symbol: SERPINA1
disease_id: OMIM:613490
disease_name: ALPHA-1-ANTITRYPSIN DEFICIENCY
Phenotype: Retinal dots (HP:0032027)
Associated genes and diseases:
gene_symbol: KCNJ13
disease_id: OMIM:193230
disease_name: VITREORETINAL DEGENERATION, SNOWFLAKE TYPE
gene_symbol: CC2D2A
disease_id: OMIM:619845
disease_name: RETINITIS PIGMENTOSA 93
gene_symbol: NMNAT1
disease_id: OMIM:608553
disease_name: LEBER CONGENITAL AMAUROSIS 9
gene_symbol: TUB
disease_id: OMIM:616188
disease_name: RETINAL DYSTROPHY AND OBESITY
Phenotype: Macular dots (HP:0032028)
Associated genes and diseases:
gene_symbol: ALDH3A2
disease_id: OMIM:270200
disease_name: SJOGREN-LARSSON SYNDROME
Phenotype: Reduced contrast sensitivity (HP:0032036)
Associated genes and diseases:
gene_symbol: DNAJC30
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND1
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND2
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND4
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: NDUFS2
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-CO1
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-CO3
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-CYB
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ATP6
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND5
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND6
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND4L
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
Phenotype: Mildly reduced visual acuity (HP:0032037)
Associated genes and diseases:
gene_symbol: RPGRIP1
disease_id: OMIM:608194
disease_name: CONE-ROD DYSTROPHY 13
gene_symbol: P3H2
disease_id: OMIM:614292
disease_name: MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION
gene_symbol: FRMD7
disease_id: OMIM:310700
disease_name: NYSTAGMUS 1, CONGENITAL, X-LINKED
Phenotype: Vocal cord polyp (HP:0032041)
Associated genes and diseases:
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: RAI1
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
Phenotype: Odynophagia (HP:0032043)
Associated genes and diseases:
gene_symbol: STAT3
disease_id: OMIM:147060
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
gene_symbol: PIGA
disease_id: ORPHA:447
disease_name: Paroxysmal nocturnal hemoglobinuria
Marchiafava-Micheli disease
PNH
Phenotype: Decreased vigilance (HP:0032044)
Associated genes and diseases:
gene_symbol: MEN1
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN1B
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN1A
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN2B
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN2C
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: PLP1
disease_id: ORPHA:280229
disease_name: Pelizaeus-Merzbacher disease in female carriers
gene_symbol: CACNA1A
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: PRRT2
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: SCN1A
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: ATP1A2
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
Phenotype: Focal cortical dysplasia (HP:0032046)
Associated genes and diseases:
gene_symbol: SCO2
disease_id: OMIM:604377
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: COPB2
disease_id: OMIM:619884
disease_name: OSTEOPOROSIS, CHILDHOOD- OR JUVENILE-ONSET, WITH DEVELOPMENTAL DELAY
gene_symbol: CNTNAP2
disease_id: OMIM:610042
disease_name: PITT-HOPKINS-LIKE SYNDROME 1
gene_symbol: NPRL3
disease_id: OMIM:617118
disease_name: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3
gene_symbol: NPRL3
disease_id: ORPHA:98820
disease_name: Familial focal epilepsy with variable foci
FFEVF
Familial partial epilepsy with variable foci
gene_symbol: POMT1
disease_id: OMIM:613155
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1
gene_symbol: DYNC1H1
disease_id: OMIM:614563
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 13
gene_symbol: NPRL2
disease_id: OMIM:617116
disease_name: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2
gene_symbol: NPRL2
disease_id: ORPHA:98820
disease_name: Familial focal epilepsy with variable foci
FFEVF
Familial partial epilepsy with variable foci
gene_symbol: NUP133
disease_id: OMIM:618349
disease_name: GALLOWAY-MOWAT SYNDROME 8
gene_symbol: COL4A1
disease_id: OMIM:175780
disease_name: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES
gene_symbol: PIK3CA
disease_id: ORPHA:99802
disease_name: Hemimegalencephaly
Unilateral megalencephaly
gene_symbol: MTOR
disease_id: ORPHA:99802
disease_name: Hemimegalencephaly
Unilateral megalencephaly
gene_symbol: AKT3
disease_id: ORPHA:99802
disease_name: Hemimegalencephaly
Unilateral megalencephaly
gene_symbol: DEPDC5
disease_id: OMIM:604364
disease_name: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
gene_symbol: DEPDC5
disease_id: ORPHA:98820
disease_name: Familial focal epilepsy with variable foci
FFEVF
Familial partial epilepsy with variable foci
gene_symbol: TSC1
disease_id: OMIM:607341
disease_name: FOCAL CORTICAL DYSPLASIA, TYPE II
gene_symbol: TSC2
disease_id: OMIM:607341
disease_name: FOCAL CORTICAL DYSPLASIA, TYPE II
Phenotype: Focal cortical dysplasia type I (HP:0032047)
Associated genes and diseases:
gene_symbol: DEPDC5
disease_id: OMIM:604364
disease_name: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
Phenotype: Focal cortical dysplasia type II (HP:0032051)
Associated genes and diseases:
gene_symbol: DEPDC5
disease_id: OMIM:604364
disease_name: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
gene_symbol: MTOR
disease_id: OMIM:607341
disease_name: FOCAL CORTICAL DYSPLASIA, TYPE II
gene_symbol: TSC1
disease_id: OMIM:607341
disease_name: FOCAL CORTICAL DYSPLASIA, TYPE II
gene_symbol: TSC2
disease_id: OMIM:607341
disease_name: FOCAL CORTICAL DYSPLASIA, TYPE II
gene_symbol: NPRL3
disease_id: OMIM:617118
disease_name: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3
Phenotype: Focal cortical dysplasia type IIa (HP:0032052)
Associated genes and diseases:
gene_symbol: NPRL3
disease_id: OMIM:617118
disease_name: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3
gene_symbol: DEPDC5
disease_id: OMIM:604364
disease_name: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
Phenotype: Mild malformation of cortical development (HP:0032059)
Associated genes and diseases:
gene_symbol: SIN3B
disease_id: ORPHA:500166
disease_name: SIN3-related intellectual disability syndrome due to a point mutation
gene_symbol: SIN3A
disease_id: ORPHA:500166
disease_name: SIN3-related intellectual disability syndrome due to a point mutation
Phenotype: Severely increased total eosinophil count (HP:0032061)
Associated genes and diseases:
gene_symbol: EXTL3
disease_id: ORPHA:508533
disease_name: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
EXTL3-related neuro-immuno-skeletal dysplasia syndrome
Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency
gene_symbol: SPINK5
disease_id: OMIM:256500
disease_name: NETHERTON SYNDROME
gene_symbol: CARD9
disease_id: OMIM:212050
disease_name: CANDIDIASIS, FAMILIAL, 2
gene_symbol: IPO8
disease_id: OMIM:619472
disease_name: VISS SYNDROME
gene_symbol: TRAC
disease_id: OMIM:615387
disease_name: T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY
gene_symbol: NLRP1
disease_id: OMIM:617388
disease_name: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS
Phenotype: Gastrointestinal eosinophilia (HP:0032064)
Associated genes and diseases:
gene_symbol: CARD11
disease_id: OMIM:617638
disease_name: IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS
gene_symbol: JAK1
disease_id: OMIM:618999
disease_name: AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA
gene_symbol: ARPC1B
disease_id: OMIM:617718
disease_name: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA
gene_symbol: STAT1
disease_id: OMIM:614162
disease_name: IMMUNODEFICIENCY 31C
gene_symbol: STAT6
disease_id: OMIM:620532
disease_name: HYPER-IgE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS
gene_symbol: STAT3
disease_id: OMIM:147060
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
gene_symbol: TGFBR1
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: TGFBR1
disease_id: OMIM:609192
disease_name: LOEYS-DIETZ SYNDROME 1
gene_symbol: IPO8
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: TGFBR2
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: TGFBR2
disease_id: OMIM:610168
disease_name: LOEYS-DIETZ SYNDROME 2
gene_symbol: TGFB2
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: TGFB2
disease_id: OMIM:614816
disease_name: LOEYS-DIETZ SYNDROME 4
gene_symbol: TGFB3
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: TGFB3
disease_id: OMIM:615582
disease_name: LOEYS-DIETZ SYNDROME 5
gene_symbol: SMAD2
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: SMAD3
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: SMAD3
disease_id: OMIM:613795
disease_name: LOEYS-DIETZ SYNDROME 3
gene_symbol: DOCK8
disease_id: OMIM:243700
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
gene_symbol: DSG1
disease_id: OMIM:615508
disease_name: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE
gene_symbol: TGFB1
disease_id: OMIM:618213
disease_name: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
Phenotype: Abnormal serum bicarbonate concentration (HP:0032065)
Associated genes and diseases:
gene_symbol: CPT2
disease_id: OMIM:608836
disease_name: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
gene_symbol: SLC4A4
disease_id: OMIM:604278
disease_name: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION
gene_symbol: WNK1
disease_id: OMIM:614492
disease_name: PSEUDOHYPOALDOSTERONISM, TYPE IIC
gene_symbol: SLC26A3
disease_id: OMIM:214700
disease_name: DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL
gene_symbol: KCNJ10
disease_id: OMIM:612780
disease_name: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE
Phenotype: Decreased serum bicarbonate concentration (HP:0032066)
Associated genes and diseases:
gene_symbol: CPT2
disease_id: OMIM:608836
disease_name: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
gene_symbol: SLC4A4
disease_id: OMIM:604278
disease_name: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION
gene_symbol: WNK1
disease_id: OMIM:614492
disease_name: PSEUDOHYPOALDOSTERONISM, TYPE IIC
Phenotype: Elevated serum bicarbonate concentration (HP:0032067)
Associated genes and diseases:
gene_symbol: SLC26A3
disease_id: OMIM:214700
disease_name: DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL
gene_symbol: KCNJ10
disease_id: OMIM:612780
disease_name: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE
Phenotype: Anti-thyroglobulin antibody positivity (HP:0032069)
Associated genes and diseases:
gene_symbol: NFKB2
disease_id: OMIM:615577
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 10
gene_symbol: TSHR
disease_id: OMIM:609152
disease_name: HYPERTHYROIDISM, NONAUTOIMMUNE
gene_symbol: THRB
disease_id: ORPHA:566243
disease_name: Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
RTHb
Resistance to thyroid hormone beta
Resistance to thyroid hormone due to a mutation in TRb
gene_symbol: THRB
disease_id: OMIM:274300
disease_name: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE
gene_symbol: RASGRP1
disease_id: OMIM:618534
disease_name: IMMUNODEFICIENCY 64
gene_symbol: DOCK11
disease_id: OMIM:301109
disease_name: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED
gene_symbol: FCGR2C
disease_id: ORPHA:3002
disease_name: Immune thrombocytopenia
ITP
Immune thrombocytopenic purpura
gene_symbol: CARD10
disease_id: OMIM:619632
disease_name: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY
gene_symbol: POMP
disease_id: OMIM:618048
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2
gene_symbol: AIRE
disease_id: OMIM:240300
disease_name: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA
Phenotype: Class III obesity (HP:0025501)
Associated genes and diseases:
gene_symbol: CNNM2
disease_id: OMIM:616418
disease_name: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1
gene_symbol: SNORD116-1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: HERC2
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: NPAP1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: SNORD115-1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: MAGEL2
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: MKRN3
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: PWAR1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: IPW
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: PWRN1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
Phenotype: Yellow papule (HP:0025507)
Associated genes and diseases:
gene_symbol: GGCX
disease_id: OMIM:610842
disease_name: PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY
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: XYLT1
disease_id: OMIM:264800
disease_name: PSEUDOXANTHOMA ELASTICUM
gene_symbol: XYLT2
disease_id: OMIM:264800
disease_name: PSEUDOXANTHOMA ELASTICUM
gene_symbol: CCDC91
disease_id: ORPHA:38
disease_name: Acrokeratoelastoidosis of Costa
AKE
PPKP3
Punctate palmoplantar hyperkeratosis type 3
Punctate palmoplantar keratoderma type 3
Phenotype: Piezogenic pedal papules (HP:0025509)
Associated genes and diseases:
gene_symbol: COL1A1
disease_id: ORPHA:287
disease_name: Classical Ehlers-Danlos syndrome
Classical EDS
cEDS
gene_symbol: COL5A1
disease_id: ORPHA:287
disease_name: Classical Ehlers-Danlos syndrome
Classical EDS
cEDS
gene_symbol: COL5A2
disease_id: ORPHA:287
disease_name: Classical Ehlers-Danlos syndrome
Classical EDS
cEDS
gene_symbol: THBS2
disease_id: OMIM:620865
disease_name: OMIM:620865
gene_symbol: AEBP1
disease_id: ORPHA:536532
disease_name: Classical-like Ehlers-Danlos syndrome type 2
AEBP1-related EDS
AEBP1-related Ehlers-Danlos syndrome
Classical-like EDS type 2
clEDS type 2
gene_symbol: CCDC91
disease_id: ORPHA:38
disease_name: Acrokeratoelastoidosis of Costa
AKE
PPKP3
Punctate palmoplantar hyperkeratosis type 3
Punctate palmoplantar keratoderma type 3
Phenotype: Leptomeningeal enhancement (HP:0032070)
Associated genes and diseases:
gene_symbol: TTR
disease_id: OMIM:105210
disease_name: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
Phenotype: Popliteal synovial cyst (HP:0032072)
Associated genes and diseases:
gene_symbol: HYAL1
disease_id: OMIM:601492
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IX
Phenotype: Aplasia of the fallopian tube (HP:0032073)
Associated genes and diseases:
gene_symbol: WNT4
disease_id: OMIM:158330
disease_name: MULLERIAN APLASIA AND HYPERANDROGENISM
Phenotype: Splenopancreatic fusion (HP:0032075)
Associated genes and diseases:
gene_symbol: SETBP1
disease_id: OMIM:269150
disease_name: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME
Phenotype: Male urethral meatus stenosis (HP:0032077)
Associated genes and diseases:
gene_symbol: MED25
disease_id: ORPHA:464738
disease_name: Basel-Vanagaite-Smirin-Yosef syndrome
gene_symbol: SIN3A
disease_id: OMIM:613406
disease_name: WITTEVEEN-KOLK SYNDROME
gene_symbol: SPRED1
disease_id: ORPHA:137605
disease_name: Legius syndrome
NF1-like syndrome
Neurofibromatosis 1-like syndrome
Nonmosaic LGSS
Nonmosaic Legius syndrome
gene_symbol: PTPRF
disease_id: OMIM:616001
disease_name: BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2
Phenotype: Angel-shaped phalanx (HP:0032078)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: OMIM:113100
disease_name: BRACHYDACTYLY, TYPE C
gene_symbol: IFT52
disease_id: OMIM:617102
disease_name: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY
Phenotype: Nevus spilus (HP:0025510)
Associated genes and diseases:
gene_symbol: NRAS
disease_id: OMIM:137550
disease_name: MELANOCYTIC NEVUS SYNDROME, CONGENITAL
gene_symbol: HRAS
disease_id: OMIM:137550
disease_name: MELANOCYTIC NEVUS SYNDROME, CONGENITAL
gene_symbol: HRAS
disease_id: ORPHA:2874
disease_name: Phakomatosis pigmentokeratotica
gene_symbol: PIGH
disease_id: OMIM:618010
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17
Phenotype: Skin-colored papule (HP:0025512)
Associated genes and diseases:
gene_symbol: ATP2A2
disease_id: ORPHA:79151
disease_name: Acrokeratosis verruciformis of Hopf
AKV of Hopf
Phenotype: Scleral rupture (HP:0025513)
Associated genes and diseases:
gene_symbol: PLOD1
disease_id: ORPHA:1900
disease_name: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Cutis hyperelastica
EDS VIA
Ehlers-Danlos syndrome type 6A
Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency
Lysyl hydroxylase-deficient EDS
Ocular-scoliotic EDS
kEDS-PLOD1
Phenotype: Morning glory anomaly (HP:0025514)
Associated genes and diseases:
gene_symbol: DNM1L
disease_id: ORPHA:98673
disease_name: Autosomal dominant optic atrophy, classic form
Autosomal dominant optic atrophy, Kjer type
Kjer optic atrophy
Optic atrophy type 1
gene_symbol: OPA1
disease_id: ORPHA:98673
disease_name: Autosomal dominant optic atrophy, classic form
Autosomal dominant optic atrophy, Kjer type
Kjer optic atrophy
Optic atrophy type 1
gene_symbol: TMEM237
disease_id: OMIM:614424
disease_name: JOUBERT SYNDROME 14
gene_symbol: PAX6
disease_id: OMIM:165550
disease_name: OPTIC NERVE HYPOPLASIA, BILATERAL
gene_symbol: PAX6
disease_id: OMIM:120200
disease_name: COLOBOMA, OCULAR, AUTOSOMAL DOMINANT
gene_symbol: HMX1
disease_id: OMIM:612109
disease_name: OCULOAURICULAR SYNDROME
gene_symbol: PAX2
disease_id: OMIM:120330
disease_name: PAPILLORENAL SYNDROME
Phenotype: Delayed thelarche (HP:0025515)
Associated genes and diseases:
gene_symbol: CENPT
disease_id: OMIM:618702
disease_name: SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES
gene_symbol: TRMT10A
disease_id: OMIM:616033
disease_name: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1
Phenotype: Coronary-pulmonary artery fistula (HP:0025516)
Associated genes and diseases:
gene_symbol: ANAPC7
disease_id: OMIM:619699
disease_name: FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME