TaoMedAI/RareMedData huggingface dataset:
Gene: MAPT
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Richardson syndrome; Classic PSP syndrome; Classic progressive supranuclear palsy syndrome; Steele-Richardson-Olszewski disease (ORPHA:240071)
Gene: MAPT
Phenotype: Parkinsonism (HP:0001300)
Associated disease: PSP-PNFA; PSP-AOS; Progressive supranuclear palsy-progressive non-fluent aphasia syndrome; Progressive supranuclear palsy-apraxia of speech syndrome (ORPHA:240112)
Gene: MAPT
Phenotype: Parkinsonism (HP:0001300)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: MAPT
Phenotype: Parkinsonism (HP:0001300)
Associated disease: PARKINSON-DEMENTIA SYNDROME (OMIM:260540)
Gene: MAPT
Phenotype: Parkinsonism (HP:0001300)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: MAPT
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: MAPT
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: PARKINSON-DEMENTIA SYNDROME (OMIM:260540)
Gene: MAPT
Phenotype: Constipation (HP:0002019)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: MAPT
Phenotype: Dysphagia (HP:0002015)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Dysphagia (HP:0002015)
Associated disease: PSP-PNFA; PSP-AOS; Progressive supranuclear palsy-progressive non-fluent aphasia syndrome; Progressive supranuclear palsy-apraxia of speech syndrome (ORPHA:240112)
Gene: MAPT
Phenotype: Dysphagia (HP:0002015)
Associated disease: PSP-CBS; Progressive supranuclear palsy-corticobasal syndrome; PSP-corticobasal syndrome (ORPHA:240103)
Gene: MAPT
Phenotype: Dysphagia (HP:0002015)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: MAPT
Phenotype: Respiratory distress (HP:0002098)
Associated disease: PSP-parkinsonism; Progressive supranuclear palsy-predominant parkinsonism syndrome; PSP-p (ORPHA:240085)
Gene: MAPT
Phenotype: Respiratory distress (HP:0002098)
Associated disease: PSP-CBS; Progressive supranuclear palsy-corticobasal syndrome; PSP-corticobasal syndrome (ORPHA:240103)
Gene: MAPT
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Bradykinesia (HP:0002067)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome; PSP-pure akinesia with gait freezing; PSP-PAGF (ORPHA:240094)
Gene: MAPT
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PSP-parkinsonism; Progressive supranuclear palsy-predominant parkinsonism syndrome; PSP-p (ORPHA:240085)
Gene: MAPT
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Richardson syndrome; Classic PSP syndrome; Classic progressive supranuclear palsy syndrome; Steele-Richardson-Olszewski disease (ORPHA:240071)
Gene: MAPT
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PSP-CBS; Progressive supranuclear palsy-corticobasal syndrome; PSP-corticobasal syndrome (ORPHA:240103)
Gene: MAPT
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: MAPT
Phenotype: Neuromuscular dysphagia (HP:0002068)
Associated disease: PSP-parkinsonism; Progressive supranuclear palsy-predominant parkinsonism syndrome; PSP-p (ORPHA:240085)
Gene: MAPT
Phenotype: Neuromuscular dysphagia (HP:0002068)
Associated disease: Richardson syndrome; Classic PSP syndrome; Classic progressive supranuclear palsy syndrome; Steele-Richardson-Olszewski disease (ORPHA:240071)
Gene: MAPT
Phenotype: Rigidity (HP:0002063)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Rigidity (HP:0002063)
Associated disease: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome; PSP-pure akinesia with gait freezing; PSP-PAGF (ORPHA:240094)
Gene: MAPT
Phenotype: Rigidity (HP:0002063)
Associated disease: PSP-parkinsonism; Progressive supranuclear palsy-predominant parkinsonism syndrome; PSP-p (ORPHA:240085)
Gene: MAPT
Phenotype: Rigidity (HP:0002063)
Associated disease: PSP-CBS; Progressive supranuclear palsy-corticobasal syndrome; PSP-corticobasal syndrome (ORPHA:240103)
Gene: MAPT
Phenotype: Rigidity (HP:0002063)
Associated disease: PARKINSON-DEMENTIA SYNDROME (OMIM:260540)
Gene: MAPT
Phenotype: Rigidity (HP:0002063)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: MAPT
Phenotype: Abnormal pyramidal tract morphology (HP:0002062)
Associated disease: PARKINSON-DEMENTIA SYNDROME (OMIM:260540)
Gene: MAPT
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: MAPT
Phenotype: Conjunctival hyperemia (HP:0030953)
Associated disease: Richardson syndrome; Classic PSP syndrome; Classic progressive supranuclear palsy syndrome; Steele-Richardson-Olszewski disease (ORPHA:240071)
Gene: MAPT
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: MAPT
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: MAPT
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: MAPT
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: PSP-CBS; Progressive supranuclear palsy-corticobasal syndrome; PSP-corticobasal syndrome (ORPHA:240103)
Gene: MAPT
Phenotype: Gait imbalance (HP:0002141)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome; PSP-pure akinesia with gait freezing; PSP-PAGF (ORPHA:240094)
Gene: MAPT
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Richardson syndrome; Classic PSP syndrome; Classic progressive supranuclear palsy syndrome; Steele-Richardson-Olszewski disease (ORPHA:240071)
Gene: MAPT
Phenotype: Apraxia (HP:0002186)
Associated disease: PSP-CBS; Progressive supranuclear palsy-corticobasal syndrome; PSP-corticobasal syndrome (ORPHA:240103)
Gene: MAPT
Phenotype: Apraxia (HP:0002186)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: MAPT
Phenotype: Neurofibrillary tangles (HP:0002185)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Neurofibrillary tangles (HP:0002185)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: MAPT
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: MAPT
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: PSP-parkinsonism; Progressive supranuclear palsy-predominant parkinsonism syndrome; PSP-p (ORPHA:240085)
Gene: MAPT
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: PSP-PNFA; PSP-AOS; Progressive supranuclear palsy-progressive non-fluent aphasia syndrome; Progressive supranuclear palsy-apraxia of speech syndrome (ORPHA:240112)
Gene: MAPT
Phenotype: Gliosis (HP:0002171)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Gliosis (HP:0002171)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: MAPT
Phenotype: Postural instability (HP:0002172)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Postural instability (HP:0002172)
Associated disease: PSP-parkinsonism; Progressive supranuclear palsy-predominant parkinsonism syndrome; PSP-p (ORPHA:240085)
Gene: MAPT
Phenotype: Postural instability (HP:0002172)
Associated disease: Richardson syndrome; Classic PSP syndrome; Classic progressive supranuclear palsy syndrome; Steele-Richardson-Olszewski disease (ORPHA:240071)
Gene: MAPT
Phenotype: Postural instability (HP:0002172)
Associated disease: PSP-PNFA; PSP-AOS; Progressive supranuclear palsy-progressive non-fluent aphasia syndrome; Progressive supranuclear palsy-apraxia of speech syndrome (ORPHA:240112)
Gene: MAPT
Phenotype: Postural instability (HP:0002172)
Associated disease: PSP-CBS; Progressive supranuclear palsy-corticobasal syndrome; PSP-corticobasal syndrome (ORPHA:240103)
Gene: MAPT
Phenotype: Postural instability (HP:0002172)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: MAPT
Phenotype: Echolalia (HP:0010529)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: MAPT
Phenotype: Echolalia (HP:0010529)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Dyslexia (HP:0010522)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: MAPT
Phenotype: Dyslexia (HP:0010522)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: MAPT
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: MAPT
Phenotype: Alexia (HP:0010523)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: MAPT
Phenotype: Alexia (HP:0010523)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: MAPT
Phenotype: Middle age onset (HP:0003596)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: MAPT
Phenotype: Insidious onset (HP:0003587)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: MAPT
Phenotype: Late onset (HP:0003584)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Late onset (HP:0003584)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: MAPT
Phenotype: Adult onset (HP:0003581)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Adult onset (HP:0003581)
Associated disease: PARKINSON-DEMENTIA SYNDROME (OMIM:260540)
Gene: MAPT
Phenotype: Adult onset (HP:0003581)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: MAPT
Phenotype: Impulsivity (HP:0100710)
Associated disease: Richardson syndrome; Classic PSP syndrome; Classic progressive supranuclear palsy syndrome; Steele-Richardson-Olszewski disease (ORPHA:240071)
Gene: MAPT
Phenotype: Neuronal loss in basal ganglia (HP:0200147)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Substantia nigra gliosis (HP:0011960)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: MAPT
Phenotype: Social and occupational deterioration (HP:0007086)
Associated disease: Richardson syndrome; Classic PSP syndrome; Classic progressive supranuclear palsy syndrome; Steele-Richardson-Olszewski disease (ORPHA:240071)
Gene: MAPT
Phenotype: Fasciculations (HP:0002380)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Aphasia (HP:0002381)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: MAPT
Phenotype: Aphasia (HP:0002381)
Associated disease: PSP-PNFA; PSP-AOS; Progressive supranuclear palsy-progressive non-fluent aphasia syndrome; Progressive supranuclear palsy-apraxia of speech syndrome (ORPHA:240112)
Gene: MAPT
Phenotype: Aphasia (HP:0002381)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Aphasia (HP:0002381)
Associated disease: PSP-CBS; Progressive supranuclear palsy-corticobasal syndrome; PSP-corticobasal syndrome (ORPHA:240103)
Gene: MAPT
Phenotype: Aphasia (HP:0002381)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: MAPT
Phenotype: Abnormal lower motor neuron morphology (HP:0002366)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: MAPT
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: MAPT
Phenotype: Frequent falls (HP:0002359)
Associated disease: PSP-CBS; Progressive supranuclear palsy-corticobasal syndrome; PSP-corticobasal syndrome (ORPHA:240103)
Gene: MAPT
Phenotype: Diminished movement (HP:0002374)
Associated disease: PSP-CBS; Progressive supranuclear palsy-corticobasal syndrome; PSP-corticobasal syndrome (ORPHA:240103)
Gene: MAPT
Phenotype: Loss of speech (HP:0002371)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Progressive (HP:0003676)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: MAPT
Phenotype: Memory impairment (HP:0002354)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Memory impairment (HP:0002354)
Associated disease: PSP-parkinsonism; Progressive supranuclear palsy-predominant parkinsonism syndrome; PSP-p (ORPHA:240085)
Gene: MAPT
Phenotype: Memory impairment (HP:0002354)
Associated disease: PSP-CBS; Progressive supranuclear palsy-corticobasal syndrome; PSP-corticobasal syndrome (ORPHA:240103)
Gene: MAPT
Phenotype: Memory impairment (HP:0002354)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Memory impairment (HP:0002354)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: MAPT
Phenotype: Resting tremor (HP:0002322)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: MAPT
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome; PSP-pure akinesia with gait freezing; PSP-PAGF (ORPHA:240094)
Gene: MAPT
Phenotype: Slowed slurred speech (HP:0007164)
Associated disease: Richardson syndrome; Classic PSP syndrome; Classic progressive supranuclear palsy syndrome; Steele-Richardson-Olszewski disease (ORPHA:240071)
Gene: MAPT
Phenotype: Impaired visuospatial constructive cognition (HP:0010794)
Associated disease: PSP-parkinsonism; Progressive supranuclear palsy-predominant parkinsonism syndrome; PSP-p (ORPHA:240085)
Gene: MAPT
Phenotype: Progressive extrapyramidal muscular rigidity (HP:0007158)
Associated disease: PSP-PNFA; PSP-AOS; Progressive supranuclear palsy-progressive non-fluent aphasia syndrome; Progressive supranuclear palsy-apraxia of speech syndrome (ORPHA:240112)
Gene: MAPT
Phenotype: Progressive extrapyramidal muscular rigidity (HP:0007158)
Associated disease: PSP-CBS; Progressive supranuclear palsy-corticobasal syndrome; PSP-corticobasal syndrome (ORPHA:240103)
Gene: MAPT
Phenotype: Progressive extrapyramidal muscular rigidity (HP:0007158)
Associated disease: Richardson syndrome; Classic PSP syndrome; Classic progressive supranuclear palsy syndrome; Steele-Richardson-Olszewski disease (ORPHA:240071)
Gene: MAPT
Phenotype: Temporal cortical atrophy (HP:0007112)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: MAPT
Phenotype: Mutism (HP:0002300)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Mutism (HP:0002300)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Mutism (HP:0002300)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: MAPT
Phenotype: Clumsiness (HP:0002312)
Associated disease: PSP-PNFA; PSP-AOS; Progressive supranuclear palsy-progressive non-fluent aphasia syndrome; Progressive supranuclear palsy-apraxia of speech syndrome (ORPHA:240112)
Gene: MAPT
Phenotype: Akinesia (HP:0002304)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Akinesia (HP:0002304)
Associated disease: Richardson syndrome; Classic PSP syndrome; Classic progressive supranuclear palsy syndrome; Steele-Richardson-Olszewski disease (ORPHA:240071)
Gene: MAPT
Phenotype: Akinesia (HP:0002304)
Associated disease: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome; PSP-pure akinesia with gait freezing; PSP-PAGF (ORPHA:240094)
Gene: MAPT
Phenotype: Freezing of gait (HP:0031825)
Associated disease: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome; PSP-pure akinesia with gait freezing; PSP-PAGF (ORPHA:240094)
Gene: MAPT
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: PSP-PNFA; PSP-AOS; Progressive supranuclear palsy-progressive non-fluent aphasia syndrome; Progressive supranuclear palsy-apraxia of speech syndrome (ORPHA:240112)
Gene: MAPT
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: PSP-CBS; Progressive supranuclear palsy-corticobasal syndrome; PSP-corticobasal syndrome (ORPHA:240103)
Gene: MAPT
Phenotype: Frontotemporal cerebral atrophy (HP:0006892)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Frontotemporal cerebral atrophy (HP:0006892)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: MAPT
Phenotype: Palilalia (HP:0031814)
Associated disease: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome; PSP-pure akinesia with gait freezing; PSP-PAGF (ORPHA:240094)
Gene: MAPT
Phenotype: Decreased lacrimation (HP:0000633)
Associated disease: Richardson syndrome; Classic PSP syndrome; Classic progressive supranuclear palsy syndrome; Steele-Richardson-Olszewski disease (ORPHA:240071)
Gene: MAPT
Phenotype: Diplopia (HP:0000651)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Blepharospasm (HP:0000643)
Associated disease: Richardson syndrome; Classic PSP syndrome; Classic progressive supranuclear palsy syndrome; Steele-Richardson-Olszewski disease (ORPHA:240071)
Gene: MAPT
Phenotype: Blepharospasm (HP:0000643)
Associated disease: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome; PSP-pure akinesia with gait freezing; PSP-PAGF (ORPHA:240094)
Gene: MAPT
Phenotype: Photophobia (HP:0000613)
Associated disease: Richardson syndrome; Classic PSP syndrome; Classic progressive supranuclear palsy syndrome; Steele-Richardson-Olszewski disease (ORPHA:240071)
Gene: MAPT
Phenotype: Photophobia (HP:0000613)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Blurred vision (HP:0000622)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Blurred vision (HP:0000622)
Associated disease: Richardson syndrome; Classic PSP syndrome; Classic progressive supranuclear palsy syndrome; Steele-Richardson-Olszewski disease (ORPHA:240071)
Gene: MAPT
Phenotype: Supranuclear gaze palsy (HP:0000605)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Supranuclear gaze palsy (HP:0000605)
Associated disease: Richardson syndrome; Classic PSP syndrome; Classic progressive supranuclear palsy syndrome; Steele-Richardson-Olszewski disease (ORPHA:240071)
Gene: MAPT
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome; PSP-pure akinesia with gait freezing; PSP-PAGF (ORPHA:240094)
Gene: MAPT
Phenotype: Abulia (HP:0012671)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: MAPT
Phenotype: Abulia (HP:0012671)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Abnormal brain FDG positron emission tomography (HP:0012658)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Abnormal brain FDG positron emission tomography (HP:0012658)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: MAPT
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome; PSP-pure akinesia with gait freezing; PSP-PAGF (ORPHA:240094)
Gene: MAPT
Phenotype: Eyelid apraxia (HP:0000658)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Deficit in grammar (HP:0006977)
Associated disease: PSP-PNFA; PSP-AOS; Progressive supranuclear palsy-progressive non-fluent aphasia syndrome; Progressive supranuclear palsy-apraxia of speech syndrome (ORPHA:240112)
Gene: MAPT
Phenotype: Deficit in grammar (HP:0006977)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: MAPT
Phenotype: Jerky head movements (HP:0006961)
Associated disease: PSP-CBS; Progressive supranuclear palsy-corticobasal syndrome; PSP-corticobasal syndrome (ORPHA:240103)
Gene: MAPT
Phenotype: Involuntary movements (HP:0004305)
Associated disease: PSP-CBS; Progressive supranuclear palsy-corticobasal syndrome; PSP-corticobasal syndrome (ORPHA:240103)
Gene: MAPT
Phenotype: Brain neoplasm (HP:0030692)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: MAPT
Phenotype: Axial muscle stiffness (HP:0006921)
Associated disease: PSP-parkinsonism; Progressive supranuclear palsy-predominant parkinsonism syndrome; PSP-p (ORPHA:240085)
Gene: MAPT
Phenotype: Axial muscle stiffness (HP:0006921)
Associated disease: Richardson syndrome; Classic PSP syndrome; Classic progressive supranuclear palsy syndrome; Steele-Richardson-Olszewski disease (ORPHA:240071)
Gene: MAPT
Phenotype: Micrographia (HP:0031908)
Associated disease: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome; PSP-pure akinesia with gait freezing; PSP-PAGF (ORPHA:240094)
Gene: MAPT
Phenotype: Micrographia (HP:0031908)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Micrographia (HP:0031908)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: MAPT
Phenotype: Focal dystonia (HP:0004373)
Associated disease: PSP-CBS; Progressive supranuclear palsy-corticobasal syndrome; PSP-corticobasal syndrome (ORPHA:240103)