TaoMedAI/RareMedData huggingface dataset:
Gene: MANBA
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MANBA
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MANBA
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MANBA
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Hypoplasia of the abdominal wall musculature (HP:0005247)
Associated disease: Beta-mannosidase deficiency; Beta-mannosidosis (ORPHA:118)
Gene: MANBA
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Beta-mannosidase deficiency; Beta-mannosidosis (ORPHA:118)
Gene: MANBA
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MANNOSIDOSIS, BETA A, LYSOSOMAL (OMIM:248510)
Gene: MANBA
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MANBA
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MANBA
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MANBA
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MANBA
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Tortuosity of conjunctival vessels (HP:0000503)
Associated disease: MANNOSIDOSIS, BETA A, LYSOSOMAL (OMIM:248510)
Gene: MANBA
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MANBA
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAOA
Phenotype: Motor delay (HP:0001270)
Associated disease: BRUNNER SYNDROME (OMIM:300615)
Gene: MAOA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BRUNNER SYNDROME (OMIM:300615)
Gene: MAOA
Phenotype: Flushing (HP:0031284)
Associated disease: BRUNNER SYNDROME (OMIM:300615)
Gene: MAOA
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: BRUNNER SYNDROME (OMIM:300615)
Gene: MAOA
Phenotype: Diarrhea (HP:0002014)
Associated disease: BRUNNER SYNDROME (OMIM:300615)
Gene: MAOA
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Monoamine oxidase A deficiency; Brunner syndrome (ORPHA:3057)
Gene: MAOA
Phenotype: Impulsivity (HP:0100710)
Associated disease: BRUNNER SYNDROME (OMIM:300615)
Gene: MAOA
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: BRUNNER SYNDROME (OMIM:300615)
Gene: MAOA
Phenotype: Headache (HP:0002315)
Associated disease: BRUNNER SYNDROME (OMIM:300615)
Gene: MAOA
Phenotype: Low frustration tolerance (HP:0000744)
Associated disease: BRUNNER SYNDROME (OMIM:300615)
Gene: MAOA
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: BRUNNER SYNDROME (OMIM:300615)
Gene: MAOA
Phenotype: Autism (HP:0000717)
Associated disease: BRUNNER SYNDROME (OMIM:300615)
Gene: MAOA
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Monoamine oxidase A deficiency; Brunner syndrome (ORPHA:3057)
Gene: MAOA
Phenotype: Kinetic tremor (HP:0030186)
Associated disease: BRUNNER SYNDROME (OMIM:300615)
Gene: MAP1B
Phenotype: Tapered finger (HP:0001182)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Dyscalculia (HP:0002442)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 83 (OMIM:619808)
Gene: MAP1B
Phenotype: Microtia (HP:0008551)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Periventricular nodular heterotopia (HP:0032388)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: MAP1B
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Shoulder dislocation (HP:0003834)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: MAP1B
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: MAP1B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 83 (OMIM:619808)
Gene: MAP1B
Phenotype: Scoliosis (HP:0002650)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: MAP1B
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: MAP1B
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: MAP1B
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Broad-based gait (HP:0002136)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Dyslexia (HP:0010522)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Middle age onset (HP:0003596)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 83 (OMIM:619808)
Gene: MAP1B
Phenotype: Hernia (HP:0100790)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: MAP1B
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Hirsutism (HP:0001007)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Everted upper lip vermilion (HP:0010803)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Periventricular heterotopia (HP:0007165)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: MAP1B
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 83 (OMIM:619808)
Gene: MAP1B
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: MAP1B
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Abnormal nervous system morphology (HP:0012639)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: MAP1B
Phenotype: Synophrys (HP:0000664)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Autistic behavior (HP:0000729)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Young adult onset (HP:0011462)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 83 (OMIM:619808)
Gene: MAP1B
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Thin skin (HP:0000963)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: MAP1B
Phenotype: Epicanthus (HP:0000286)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Clinodactyly (HP:0030084)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Microcephaly (HP:0000252)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: High palate (HP:0000218)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Squared superior portion of helix (HP:0030026)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: MAP1B
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: MAP1B
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: MAP1B
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: MAP1B
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Hypoplastic philtrum (HP:0005326)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Pes cavus (HP:0001761)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: PERIVENTRICULAR NODULAR HETEROTOPIA 9 (OMIM:618918)
Gene: MAP1B
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Gene: MAPT
Phenotype: Hand clenching (HP:0001188)
Associated disease: PSP-CBS; Progressive supranuclear palsy-corticobasal syndrome; PSP-corticobasal syndrome (ORPHA:240103)
Gene: MAPT
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Poor speech (HP:0002465)
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: Poor speech (HP:0002465)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Language impairment (HP:0002463)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: MAPT
Phenotype: Language impairment (HP:0002463)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: MAPT
Phenotype: Spastic dysarthria (HP:0002464)
Associated disease: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome; PSP-pure akinesia with gait freezing; PSP-PAGF (ORPHA:240094)
Gene: MAPT
Phenotype: Primitive reflex (HP:0002476)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: MAPT
Phenotype: Primitive reflex (HP:0002476)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: MAPT
Phenotype: Dyscalculia (HP:0002442)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Frontolimbic dementia (HP:0002439)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Limb dystonia (HP:0002451)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Astrocytosis (HP:0002446)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Astrocytosis (HP:0002446)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Astrocytosis (HP:0002446)
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: Short stepped shuffling gait (HP:0007311)
Associated disease: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome; PSP-pure akinesia with gait freezing; PSP-PAGF (ORPHA:240094)
Gene: MAPT
Phenotype: Short stepped shuffling gait (HP:0007311)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: MAPT
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Richardson syndrome; Classic PSP syndrome; Classic progressive supranuclear palsy syndrome; Steele-Richardson-Olszewski disease (ORPHA:240071)
Gene: MAPT
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: PSP-CBS; Progressive supranuclear palsy-corticobasal syndrome; PSP-corticobasal syndrome (ORPHA:240103)
Gene: MAPT
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: PARKINSON-DEMENTIA SYNDROME (OMIM:260540)
Gene: MAPT
Phenotype: Sporadic (HP:0003745)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: MAPT
Phenotype: Sporadic (HP:0003745)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: MAPT
Phenotype: Expressive aphasia (HP:0002427)
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: Stroke (HP:0001297)
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: Stuttering (HP:0025268)
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: Mental deterioration (HP:0001268)
Associated disease: PSP-parkinsonism; Progressive supranuclear palsy-predominant parkinsonism syndrome; PSP-p (ORPHA:240085)
Gene: MAPT
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Richardson syndrome; Classic PSP syndrome; Classic progressive supranuclear palsy syndrome; Steele-Richardson-Olszewski disease (ORPHA:240071)
Gene: MAPT
Phenotype: Mental deterioration (HP:0001268)
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: Mental deterioration (HP:0001268)
Associated disease: PSP-CBS; Progressive supranuclear palsy-corticobasal syndrome; PSP-corticobasal syndrome (ORPHA:240103)
Gene: MAPT
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Mental deterioration (HP:0001268)
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: Gait disturbance (HP:0001288)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Dysarthria (HP:0001260)
Associated disease: Richardson syndrome; Classic PSP syndrome; Classic progressive supranuclear palsy syndrome; Steele-Richardson-Olszewski disease (ORPHA:240071)
Gene: MAPT
Phenotype: Dysarthria (HP:0001260)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Dysarthria (HP:0001260)
Associated disease: PSP-CBS; Progressive supranuclear palsy-corticobasal syndrome; PSP-corticobasal syndrome (ORPHA:240103)
Gene: MAPT
Phenotype: Dysarthria (HP:0001260)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: MAPT
Phenotype: Polyphagia (HP:0002591)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: MAPT
Phenotype: Polyphagia (HP:0002591)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: MAPT
Phenotype: Abnormal sexual behavior (HP:0008768)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: MAPT
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: MAPT
Phenotype: Parkinsonism with favorable response to dopaminergic medication (HP:0002548)
Associated disease: Richardson syndrome; Classic PSP syndrome; Classic progressive supranuclear palsy syndrome; Steele-Richardson-Olszewski disease (ORPHA:240071)
Gene: MAPT
Phenotype: Parkinsonism with favorable response to dopaminergic medication (HP:0002548)
Associated disease: PSP-parkinsonism; Progressive supranuclear palsy-predominant parkinsonism syndrome; PSP-p (ORPHA:240085)
Gene: MAPT
Phenotype: Parkinsonism with favorable response to dopaminergic medication (HP:0002548)
Associated disease: PSP-CBS; Progressive supranuclear palsy-corticobasal syndrome; PSP-corticobasal syndrome (ORPHA:240103)
Gene: MAPT
Phenotype: Deficit in phonologic short-term memory (HP:0002549)
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: Retrocollis (HP:0002544)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Axial dystonia (HP:0002530)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Axial dystonia (HP:0002530)
Associated disease: Richardson syndrome; Classic PSP syndrome; Classic progressive supranuclear palsy syndrome; Steele-Richardson-Olszewski disease (ORPHA:240071)
Gene: MAPT
Phenotype: Granulovacuolar degeneration (HP:0002528)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: MAPT
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: MAPT
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: MAPT
Phenotype: Falls (HP:0002527)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Falls (HP:0002527)
Associated disease: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome; PSP-pure akinesia with gait freezing; PSP-PAGF (ORPHA:240094)
Gene: MAPT
Phenotype: Falls (HP:0002527)
Associated disease: PSP-parkinsonism; Progressive supranuclear palsy-predominant parkinsonism syndrome; PSP-p (ORPHA:240085)
Gene: MAPT
Phenotype: Falls (HP:0002527)
Associated disease: Richardson syndrome; Classic PSP syndrome; Classic progressive supranuclear palsy syndrome; Steele-Richardson-Olszewski disease (ORPHA:240071)
Gene: MAPT
Phenotype: Falls (HP:0002527)
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: Loss of ambulation (HP:0002505)
Associated disease: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome; PSP-pure akinesia with gait freezing; PSP-PAGF (ORPHA:240094)
Gene: MAPT
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
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: Hyperreflexia (HP:0001347)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: MAPT
Phenotype: Dystonia (HP:0001332)
Associated disease: PSP-parkinsonism; Progressive supranuclear palsy-predominant parkinsonism syndrome; PSP-p (ORPHA:240085)
Gene: MAPT
Phenotype: Dystonia (HP:0001332)
Associated disease: Richardson syndrome; Classic PSP syndrome; Classic progressive supranuclear palsy syndrome; Steele-Richardson-Olszewski disease (ORPHA:240071)
Gene: MAPT
Phenotype: Dystonia (HP:0001332)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: MAPT
Phenotype: Urinary urgency (HP:0000012)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: MAPT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PARKINSON-DEMENTIA SYNDROME (OMIM:260540)
Gene: MAPT
Phenotype: Tremor (HP:0001337)
Associated disease: PSP-parkinsonism; Progressive supranuclear palsy-predominant parkinsonism syndrome; PSP-p (ORPHA:240085)
Gene: MAPT
Phenotype: Tremor (HP:0001337)
Associated disease: Richardson syndrome; Classic PSP syndrome; Classic progressive supranuclear palsy syndrome; Steele-Richardson-Olszewski disease (ORPHA:240071)
Gene: MAPT
Phenotype: Tremor (HP:0001337)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Tremor (HP:0001337)
Associated disease: PSP-CBS; Progressive supranuclear palsy-corticobasal syndrome; PSP-corticobasal syndrome (ORPHA:240103)
Gene: MAPT
Phenotype: Tremor (HP:0001337)
Associated disease: PARKINSON-DEMENTIA SYNDROME (OMIM:260540)
Gene: MAPT
Phenotype: Tremor (HP:0001337)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: MAPT
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)
Gene: MAPT
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PICK DISEASE OF BRAIN (OMIM:172700)
Gene: MAPT
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Gene: MAPT
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FRONTOTEMPORAL DEMENTIA (OMIM:600274)
Gene: MAPT
Phenotype: Parkinsonism (HP:0001300)
Associated disease: SUPRANUCLEAR PALSY, PROGRESSIVE, 1 (OMIM:601104)