TaoMedAI/RareMedData huggingface dataset:
Gene: NANS
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NANS
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NANS
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NANS
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Strabismus (HP:0000486)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Short neck (HP:0000470)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Wide nose (HP:0000445)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Bulbous nose (HP:0000414)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NANS
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE (OMIM:610442)
Gene: NANS
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NANS
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CYCS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THROMBOCYTOPENIA 4 (OMIM:612004)
Gene: CYCS
Phenotype: Abnormal platelet volume (HP:0011876)
Associated disease: THROMBOCYTOPENIA 4 (OMIM:612004)
Gene: CYCS
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: THROMBOCYTOPENIA 4 (OMIM:612004)
Gene: TREM2
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TREM2
Phenotype: Acute leukemia (HP:0002488)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TREM2
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TREM2
Phenotype: Poor speech (HP:0002465)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TREM2
Phenotype: Language impairment (HP:0002463)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TREM2
Phenotype: Language impairment (HP:0002463)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TREM2
Phenotype: Deposits immunoreactive to beta-amyloid protein (HP:0003791)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TREM2
Phenotype: Primitive reflex (HP:0002476)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 (OMIM:618193)
Gene: TREM2
Phenotype: Primitive reflex (HP:0002476)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TREM2
Phenotype: Dyscalculia (HP:0002442)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TREM2
Phenotype: Astrocytosis (HP:0002446)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TREM2
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: TREM2
Phenotype: CNS demyelination (HP:0007305)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 (OMIM:618193)
Gene: TREM2
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: TREM2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TREM2
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: TREM2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TREM2
Phenotype: Hypertonia (HP:0001276)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TREM2
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TREM2
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: TREM2
Phenotype: Confusion (HP:0001289)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TREM2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TREM2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 (OMIM:618193)
Gene: TREM2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TREM2
Phenotype: Seizure (HP:0001250)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TREM2
Phenotype: Seizure (HP:0001250)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TREM2
Phenotype: Seizure (HP:0001250)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TREM2
Phenotype: Seizure (HP:0001250)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 (OMIM:618193)
Gene: TREM2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TREM2
Phenotype: Ataxia (HP:0001251)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TREM2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TREM2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TREM2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TREM2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TREM2
Phenotype: Spasticity (HP:0001257)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TREM2
Phenotype: Spasticity (HP:0001257)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TREM2
Phenotype: Spasticity (HP:0001257)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TREM2
Phenotype: Motor neuron atrophy (HP:0007373)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TREM2
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TREM2
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TREM2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TREM2
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TREM2
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TREM2
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: TREM2
Phenotype: Jaw hyperreflexia (HP:0033683)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TREM2
Phenotype: Bone cyst (HP:0012062)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 (OMIM:618193)
Gene: TREM2
Phenotype: Bone cyst (HP:0012062)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TREM2
Phenotype: Bone cyst (HP:0012062)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TREM2
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TREM2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TREM2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TREM2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TREM2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TREM2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TREM2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TREM2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TREM2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TREM2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TREM2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TREM2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 (OMIM:618193)
Gene: TREM2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TREM2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TREM2
Phenotype: Myoclonus (HP:0001336)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 (OMIM:618193)
Gene: TREM2
Phenotype: Myoclonus (HP:0001336)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TREM2
Phenotype: Myoclonus (HP:0001336)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TREM2
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TREM2
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TREM2
Phenotype: Bone pain (HP:0002653)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TREM2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TREM2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TREM2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TREM2
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: TREM2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TREM2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TREM2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TREM2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TREM2
Phenotype: Laryngospasm (HP:0025425)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TREM2
Phenotype: Progressive distal muscular atrophy (HP:0008955)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TREM2
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 (OMIM:618193)
Gene: TREM2
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TREM2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TREM2
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TREM2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TREM2
Phenotype: Dyspnea (HP:0002094)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TREM2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TREM2
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TREM2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 (OMIM:618193)
Gene: TREM2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TREM2
Phenotype: Chorea (HP:0002072)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TREM2
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TREM2
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: TREM2
Phenotype: Steppage gait (HP:0003376)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TREM2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TREM2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TREM2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TREM2
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TREM2
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TREM2
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TREM2
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: TREM2
Phenotype: Paralysis (HP:0003470)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TREM2
Phenotype: Babinski sign (HP:0003487)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 (OMIM:618193)
Gene: TREM2
Phenotype: Babinski sign (HP:0003487)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TREM2
Phenotype: Babinski sign (HP:0003487)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TREM2
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TREM2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 (OMIM:618193)
Gene: TREM2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TREM2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TREM2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TREM2
Phenotype: Axonal loss (HP:0003447)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TREM2
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 (OMIM:618193)
Gene: TREM2
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TREM2
Phenotype: Abnormal upper motor neuron morphology (HP:0002127)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TREM2
Phenotype: Apraxia (HP:0002186)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TREM2
Phenotype: Apraxia (HP:0002186)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 (OMIM:618193)
Gene: TREM2
Phenotype: Apraxia (HP:0002186)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TREM2
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: TREM2
Phenotype: Neurofibrillary tangles (HP:0002185)
Associated disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Familial Alzheimer disease; Early-onset familial autosomal dominant Alzheimer disease (ORPHA:1020)
Gene: TREM2
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: TREM2
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: TREM2
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: TREM2
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TREM2
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TREM2
Phenotype: Gliosis (HP:0002171)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TREM2
Phenotype: Echolalia (HP:0010529)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TREM2
Phenotype: Dyslexia (HP:0010522)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: TREM2
Phenotype: Dyslexia (HP:0010522)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: TREM2
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)