TaoMedAI/RareMedData huggingface dataset:
Gene: SBF1
Phenotype: Myelin outfoldings (HP:0004336)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 (OMIM:615284)
Gene: SBF1
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 (OMIM:615284)
Gene: SBF1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 (OMIM:615284)
Gene: SBF1
Phenotype: Microcephaly (HP:0000252)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 (OMIM:615284)
Gene: SBF1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 (OMIM:615284)
Gene: SBF1
Phenotype: Strabismus (HP:0000486)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 (OMIM:615284)
Gene: SBF1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 (OMIM:615284)
Gene: SBF1
Phenotype: Pes planus (HP:0001763)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3 (OMIM:615284)
Gene: MSMO1
Phenotype: Psoriasiform dermatitis (HP:0003765)
Associated disease: MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS (OMIM:616834)
Gene: MSMO1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS (OMIM:616834)
Gene: MSMO1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS (OMIM:616834)
Gene: MSMO1
Phenotype: Elevated circulating monomethyl sterol concentration (HP:6000753)
Associated disease: MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS (OMIM:616834)
Gene: MSMO1
Phenotype: Elevated circulating dimethyl sterol concentration (HP:6000754)
Associated disease: MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS (OMIM:616834)
Gene: MSMO1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS (OMIM:616834)
Gene: MSMO1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS (OMIM:616834)
Gene: MSMO1
Phenotype: Decreased LDL cholesterol concentration (HP:0003563)
Associated disease: MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS (OMIM:616834)
Gene: MSMO1
Phenotype: Short stature (HP:0004322)
Associated disease: MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS (OMIM:616834)
Gene: MSMO1
Phenotype: Elevated circulating methysterol concentration (HP:6001113)
Associated disease: MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS (OMIM:616834)
Gene: MSMO1
Phenotype: Childhood onset (HP:0011463)
Associated disease: MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS (OMIM:616834)
Gene: MSMO1
Phenotype: Hypocholesterolemia (HP:0003146)
Associated disease: MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS (OMIM:616834)
Gene: MSMO1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS (OMIM:616834)
Gene: MSMO1
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS (OMIM:616834)
Gene: MSMO1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS (OMIM:616834)
Gene: MSMO1
Phenotype: Arthralgia (HP:0002829)
Associated disease: MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS (OMIM:616834)
Gene: MSMO1
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS (OMIM:616834)
Gene: MSMO1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS (OMIM:616834)
Gene: MSMO1
Phenotype: Blepharitis (HP:0000498)
Associated disease: MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS (OMIM:616834)
Gene: MSMO1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS (OMIM:616834)
Gene: SC5D
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Meningocele (HP:0002435)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Seizure (HP:0001250)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Hypotonia (HP:0001252)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Elevated circulating lathosterol concentration (HP:0034936)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Ambiguous genitalia, male (HP:0000033)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Myoclonus (HP:0001336)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Intrahepatic cholestasis (HP:0001406)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Intrahepatic cholestasis (HP:0001406)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Butterfly vertebrae (HP:0003316)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Reduced 3-beta-hydroxysteroid-delta-5-desaturase activity in cultured fibroblasts (HP:6000199)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Abnormal platelet morphology (HP:0011875)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Cerebellar cortical atrophy (HP:0008278)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Congenital onset (HP:0003577)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Abnormal thoracic spine morphology (HP:0100711)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Lumbosacral meningocele (HP:0200133)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Anisopoikilocytosis (HP:0004823)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Anisopoikilocytosis (HP:0004823)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Chiari malformation (HP:0002308)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Foam cells with lamellar inclusion bodies (HP:0003609)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Alveolar ridge overgrowth (HP:0009085)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Bilobate gallbladder (HP:0005608)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Second trimester onset (HP:0034198)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: 2-4 toe cutaneous syndactyly (HP:0005768)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: 2-3 toe cutaneous syndactyly (HP:0005709)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Short nose (HP:0003196)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Short nose (HP:0003196)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Osteoporosis (HP:0000939)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Epicanthus (HP:0000286)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Epicanthus (HP:0000286)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Full cheeks (HP:0000293)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Microcephaly (HP:0000252)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Microcephaly (HP:0000252)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: High palate (HP:0000218)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Chiari type II malformation (HP:0025660)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Narrow forehead (HP:0000341)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Narrow forehead (HP:0000341)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Long philtrum (HP:0000343)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Long philtrum (HP:0000343)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Micrognathia (HP:0000347)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Micrognathia (HP:0000347)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Prominent nasal tip (HP:0005274)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Microcornea (HP:0000482)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Anteverted nares (HP:0000463)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Cataract (HP:0000518)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Cataract (HP:0000518)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Ptosis (HP:0000508)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Ptosis (HP:0000508)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: LATHOSTEROLOSIS (OMIM:607330)
Gene: SC5D
Phenotype: Talipes (HP:0001883)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: SC5D
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Gene: ATXN1
Phenotype: Impaired horizontal smooth pursuit (HP:0001151)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Bulbar signs (HP:0002483)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Spinocerebellar atrophy (HP:0007263)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Genetic anticipation with paternal anticipation bias (HP:0003744)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Areflexia (HP:0001284)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Hypotonia (HP:0001252)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Spasticity (HP:0001257)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Abnormality of somatosensory evoked potentials (HP:0007377)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Hypermetric saccades (HP:0007338)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Olivopontocerebellar atrophy (HP:0002542)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Spinocerebellar tract degeneration (HP:0002503)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Upgaze palsy (HP:0025331)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Slurred speech (HP:0001350)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Abnormality of masticatory muscle (HP:0410011)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Dystonia (HP:0001332)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Dysmetria (HP:0001310)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Staring gaze (HP:0025401)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Chorea (HP:0002072)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Chorea (HP:0002072)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Decreased sensory nerve conduction velocity (HP:0003448)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Scanning speech (HP:0002168)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Postural tremor (HP:0002174)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Paresthesia (HP:0003401)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Adult onset (HP:0003581)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Loss of Purkinje cells in the cerebellar vermis (HP:0007001)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Dorsal column degeneration (HP:0007006)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Decreased amplitude of sensory action potentials (HP:0007078)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Fasciculations (HP:0002380)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Fasciculations (HP:0002380)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Memory impairment (HP:0002354)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Impaired proprioception (HP:0010831)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Impaired proprioception (HP:0010831)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Hyperactive deep tendon reflexes (HP:0006801)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)
Gene: ATXN1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Dysmetric saccades (HP:0000641)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Supranuclear ophthalmoplegia (HP:0000623)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Impaired distal tactile sensation (HP:0006937)
Associated disease: SPINOCEREBELLAR ATAXIA 1 (OMIM:164400)
Gene: ATXN1
Phenotype: Abnormal nerve conduction velocity (HP:0040129)
Associated disease: Spinocerebellar ataxia type 1; SCA1 (ORPHA:98755)