TaoMedAI/RareMedData huggingface dataset:
Gene: IL12RB1
Phenotype: Abnormality of the thyroid gland (HP:0000820)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Increased circulating IgA concentration (HP:0003261)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Pruritus (HP:0000989)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Jaundice (HP:0000952)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Onychomycosis (HP:0012203)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Ascites (HP:0001541)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Lymphadenitis (HP:0002840)
Associated disease: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency; Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency; MSMD due to complete IL12RB1 deficiency; MSMD due to complete interleukin 12 receptor beta 1 deficiency (ORPHA:319552)
Gene: IL12RB1
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Fatigue (HP:0012378)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Abnormal intrahepatic bile duct morphology (HP:0011040)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Antimitochondrial antibody positivity (HP:0030167)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Abnormal circulating interleukin concentration (HP:0011117)
Associated disease: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency; Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency; MSMD due to complete IL12RB1 deficiency; MSMD due to complete interleukin 12 receptor beta 1 deficiency (ORPHA:319552)
Gene: IL12RB1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: IL12RB1
Phenotype: Recurrent candida infections (HP:0005401)
Associated disease: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency; Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency; MSMD due to complete IL12RB1 deficiency; MSMD due to complete interleukin 12 receptor beta 1 deficiency (ORPHA:319552)
Gene: IL12RB1
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: IMMUNODEFICIENCY 30 (OMIM:614891)
Gene: IL12RB1
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency; Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency; MSMD due to complete IL12RB1 deficiency; MSMD due to complete interleukin 12 receptor beta 1 deficiency (ORPHA:319552)
Gene: IL13
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: IL13
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: IL13
Phenotype: Asthma (HP:0002099)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: IL13
Phenotype: Bronchoconstriction (HP:4000007)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: IL13
Phenotype: Airway hyperresponsiveness (HP:0032933)
Associated disease: ASTHMA, SUSCEPTIBILITY TO (OMIM:600807)
Gene: TNFRSF9
Phenotype: Complete or near-complete absence of specific antibody response to tetanus vaccine (HP:0410295)
Associated disease: IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION (OMIM:620282)
Gene: TNFRSF9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION (OMIM:620282)
Gene: TNFRSF9
Phenotype: Hodgkin lymphoma (HP:0012189)
Associated disease: IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION (OMIM:620282)
Gene: TNFRSF9
Phenotype: Generalized lymphadenopathy (HP:0008940)
Associated disease: IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION (OMIM:620282)
Gene: TNFRSF9
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION (OMIM:620282)
Gene: TNFRSF9
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION (OMIM:620282)
Gene: TNFRSF9
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION (OMIM:620282)
Gene: TNFRSF9
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION (OMIM:620282)
Gene: TNFRSF9
Phenotype: Persistent EBV viremia (HP:0020072)
Associated disease: IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION (OMIM:620282)
Gene: TNFRSF9
Phenotype: Juvenile onset (HP:0003621)
Associated disease: IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION (OMIM:620282)
Gene: TNFRSF9
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION (OMIM:620282)
Gene: TNFRSF9
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION (OMIM:620282)
Gene: TNFRSF9
Phenotype: Decreased anti-CD3/28-induced T-cell proliferation (HP:0031382)
Associated disease: IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION (OMIM:620282)
Gene: TNFRSF9
Phenotype: Decreased specific pneumococcal antibody level (HP:0012476)
Associated disease: IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION (OMIM:620282)
Gene: TNFRSF9
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION (OMIM:620282)
Gene: TNFRSF9
Phenotype: Absent circulating B cells (HP:0030252)
Associated disease: IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION (OMIM:620282)
Gene: TNFRSF9
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION (OMIM:620282)
Gene: TNFRSF9
Phenotype: Pancytopenia (HP:0001876)
Associated disease: IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION (OMIM:620282)
Gene: IMPA1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 59 (OMIM:617323)
Gene: IMPA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 59 (OMIM:617323)
Gene: IMPA1
Phenotype: Paranoia (HP:0011999)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 59 (OMIM:617323)
Gene: IMPA1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 59 (OMIM:617323)
Gene: IMPDH1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IMPDH1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 10 (OMIM:180105)
Gene: IMPDH1
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IMPDH1
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPDH1
Phenotype: Motor delay (HP:0001270)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IMPDH1
Phenotype: Seizure (HP:0001250)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IMPDH1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IMPDH1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IMPDH1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IMPDH1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IMPDH1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 10 (OMIM:180105)
Gene: IMPDH1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IMPDH1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LEBER CONGENITAL AMAUROSIS 11 (OMIM:613837)
Gene: IMPDH1
Phenotype: Eye poking (HP:0001483)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IMPDH1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IMPDH1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 10 (OMIM:180105)
Gene: IMPDH1
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPDH1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 10 (OMIM:180105)
Gene: IMPDH1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IMPDH1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPDH1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: LEBER CONGENITAL AMAUROSIS 11 (OMIM:613837)
Gene: IMPDH1
Phenotype: Encephalocele (HP:0002084)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IMPDH1
Phenotype: Infantile onset (HP:0003593)
Associated disease: RETINITIS PIGMENTOSA 10 (OMIM:180105)
Gene: IMPDH1
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IMPDH1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IMPDH1
Phenotype: Aplasia/Hypoplasia of the cerebellar vermis (HP:0006817)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IMPDH1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPDH1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IMPDH1
Phenotype: Nystagmus (HP:0000639)
Associated disease: LEBER CONGENITAL AMAUROSIS 11 (OMIM:613837)
Gene: IMPDH1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPDH1
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPDH1
Phenotype: Photophobia (HP:0000613)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IMPDH1
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPDH1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPDH1
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IMPDH1
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPDH1
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPDH1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPDH1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 10 (OMIM:180105)
Gene: IMPDH1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IMPDH1
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPDH1
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IMPDH1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IMPDH1
Phenotype: Abnormal optic disc morphology (HP:0012795)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IMPDH1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 10 (OMIM:180105)
Gene: IMPDH1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IMPDH1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IMPDH1
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPDH1
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPDH1
Phenotype: Bull's eye maculopathy (HP:0011504)
Associated disease: RETINITIS PIGMENTOSA 10 (OMIM:180105)
Gene: IMPDH1
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPDH1
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPDH1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IMPDH1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPDH1
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPDH1
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: RETINITIS PIGMENTOSA 10 (OMIM:180105)
Gene: IMPDH1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPDH1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IMPDH1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 10 (OMIM:180105)
Gene: IMPDH1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPDH1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 10 (OMIM:180105)
Gene: IMPDH1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IMPDH1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IMPDH1
Phenotype: Geographic atrophy (HP:0031609)
Associated disease: RETINITIS PIGMENTOSA 10 (OMIM:180105)
Gene: IMPDH1
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPDH1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPDH1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPDH1
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IMPDH1
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IMPDH1
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPDH1
Phenotype: Cataract (HP:0000518)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IMPDH1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 10 (OMIM:180105)
Gene: IMPDH1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IMPDH1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IMPDH1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPDH1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPDH1
Phenotype: Visual impairment (HP:0000505)
Associated disease: LEBER CONGENITAL AMAUROSIS 11 (OMIM:613837)
Gene: IMPDH1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPDH1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IMPDH1
Phenotype: Keratoconus (HP:0000563)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IMPDH1
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPDH1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IMPDH1
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPDH1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPDH1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: IMPDH1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 10 (OMIM:180105)
Gene: IMPDH1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: IMPDH1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IMPDH1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: IMPDH2
Phenotype: Decreased CSF homovanillic acid concentration (HP:0003785)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: IMPDH2
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: IMPDH2
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: IMPDH2
Phenotype: Ataxia (HP:0001251)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: IMPDH2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: IMPDH2
Phenotype: Rheumatoid arthritis (HP:0001370)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: IMPDH2
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: IMPDH2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: IMPDH2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: IMPDH2
Phenotype: Paresis of extensor muscles of the big toe (HP:0002601)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: IMPDH2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: IMPDH2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: IMPDH2
Phenotype: Rigidity (HP:0002063)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: IMPDH2
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: IMPDH2
Phenotype: Babinski sign (HP:0003487)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)