TaoMedAI/RareMedData huggingface dataset:
Gene: ATXN3
Phenotype: Dystonia (HP:0001332)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Dystonia (HP:0001332)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Dystonia (HP:0001332)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Urinary urgency (HP:0000012)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN3
Phenotype: Tremor (HP:0001337)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN3
Phenotype: Parkinsonism (HP:0001300)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Parkinsonism (HP:0001300)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN3
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Constipation (HP:0002019)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN3
Phenotype: Dysphagia (HP:0002015)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Dysphagia (HP:0002015)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN3
Phenotype: Dysphagia (HP:0002015)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Dysphagia (HP:0002015)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Dysphagia (HP:0002015)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: Bradykinesia (HP:0002067)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN3
Phenotype: Muscle spasm (HP:0003394)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Muscle spasm (HP:0003394)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: Rigidity (HP:0002063)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Rigidity (HP:0002063)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN3
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Limb ataxia (HP:0002070)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Babinski sign (HP:0003487)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Babinski sign (HP:0003487)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Babinski sign (HP:0003487)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Babinski sign (HP:0003487)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Gliosis (HP:0002171)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Postural instability (HP:0002172)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Postural instability (HP:0002172)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN3
Phenotype: Insidious onset (HP:0003587)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN3
Phenotype: Late onset (HP:0003584)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN3
Phenotype: Adult onset (HP:0003581)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN3
Phenotype: Substantia nigra gliosis (HP:0011960)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Substantia nigra gliosis (HP:0011960)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN3
Phenotype: Substantia nigra gliosis (HP:0011960)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Substantia nigra gliosis (HP:0011960)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: Facial-lingual fasciculations (HP:0007089)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Facial-lingual fasciculations (HP:0007089)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Facial-lingual fasciculations (HP:0007089)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Facial-lingual fasciculations (HP:0007089)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: Fasciculations (HP:0002380)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Degeneration of anterior horn cells (HP:0002398)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Abnormal lower motor neuron morphology (HP:0002366)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN3
Phenotype: Progressive (HP:0003676)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Progressive (HP:0003676)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN3
Phenotype: Memory impairment (HP:0002354)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Memory impairment (HP:0002354)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Memory impairment (HP:0002354)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: Resting tremor (HP:0002322)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN3
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: Clumsiness (HP:0002312)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Clumsiness (HP:0002312)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Clumsiness (HP:0002312)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Diplopia (HP:0000651)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Diplopia (HP:0000651)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Diplopia (HP:0000651)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Diplopia (HP:0000651)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: Dysmetric saccades (HP:0000641)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Supranuclear ophthalmoplegia (HP:0000623)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Supranuclear ophthalmoplegia (HP:0000623)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Supranuclear ophthalmoplegia (HP:0000623)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Supranuclear ophthalmoplegia (HP:0000623)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: Abnormal electrooculogram (HP:0030454)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Micrographia (HP:0031908)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN3
Phenotype: Abnormality of temperature regulation (HP:0004370)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Abnormality of temperature regulation (HP:0004370)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Abnormality of temperature regulation (HP:0004370)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: Personality changes (HP:0000751)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN3
Phenotype: Hallucinations (HP:0000738)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: Depression (HP:0000716)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN3
Phenotype: Dementia (HP:0000726)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Dementia (HP:0000726)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN3
Phenotype: Lewy bodies (HP:0100315)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: Degeneration of the striatum (HP:0040140)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Degeneration of the striatum (HP:0040140)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Degeneration of the striatum (HP:0040140)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: Mask-like facies (HP:0000298)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN3
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN3
Phenotype: Weak voice (HP:0001621)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: ATXN3
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Late young adult onset (HP:0025710)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Proptosis (HP:0000520)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Proptosis (HP:0000520)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Proptosis (HP:0000520)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Proptosis (HP:0000520)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: Ptosis (HP:0000508)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: Spinocerebellar ataxia type 3, Machado type; Machado-Joseph disease type 3; SCA3, Machado type (ORPHA:276244)
Gene: ATXN3
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: Machado-Joseph disease type 2; Spinocerebellar ataxia, Thomas type; SCA3, Thomas type (ORPHA:276241)
Gene: ATXN3
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: SCA3, Joseph type; Spinocerebellar ataxia type 3, Joseph type; Machado-Joseph disease type 1 (ORPHA:276238)
Gene: ATXN3
Phenotype: Chronic pain (HP:0012532)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: ATXN3
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: MACHADO-JOSEPH DISEASE (OMIM:109150)
Gene: MLH1
Phenotype: Visual field defect (HP:0001123)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Hypertonia (HP:0001276)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 1 (OMIM:276300)
Gene: MLH1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Benign neoplasm of the central nervous system (HP:0100835)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Seizure (HP:0001250)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Intussusception (HP:0002576)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MLH1
Phenotype: Hematochezia (HP:0002573)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MLH1
Phenotype: Clubbing (HP:0001217)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MLH1
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Pleomorphic xanthoastrocytoma (HP:0033682)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 1 (OMIM:276300)
Gene: MLH1
Phenotype: Oligodendroglioma (HP:0033681)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 1 (OMIM:276300)
Gene: MLH1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 1 (OMIM:276300)
Gene: MLH1
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: MUIR-TORRE SYNDROME (OMIM:158320)
Gene: MLH1
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: MLH1
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 1 (OMIM:276300)
Gene: MLH1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Gene: MLH1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 1 (OMIM:276300)
Gene: MLH1
Phenotype: Lymphoma (HP:0002665)
Associated disease: MISMATCH REPAIR CANCER SYNDROME 1 (OMIM:276300)
Gene: MLH1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Gene: MLH1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2 (OMIM:609310)