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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Dementia (D003704)
Parent Node: Tauopathies (D024801)
..Starting node ..Diffuse Neurofibrillary Tangles with Calcification (D055956)
Child Nodes:
Sister Nodes:
..Alzheimer Disease (D000544) 24
..Diffuse Neurofibrillary Tangles with Calcification (D055956)
..Supranuclear Palsy, Progressive (D013494) 5
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3363
Name:	Diffuse Neurofibrillary Tangles with Calcification
Definition:	A form of presenile DEMENTIA characterized by cortical dementia, NEUROFIBRILLARY TANGLES without SENILE PLAQUES, Fahr's type CALCINOSIS, and ATROPHY in frontotemporal or TEMPORAL LOBE.
Alternative IDs:
ParentIDs:	MESH:D003704\|MESH:D024801
TreeNumbers:	C10.228.140.380.254 \|C10.574.945.374 \|F03.087.400.370
Synonyms:	Disease, Kosaka-Shibayama \|Kosaka Shibayama Disease \|Kosaka-Shibayama Disease
Slim Mappings:	Mental disorder\|Nervous system disease
Reference:	MedGen: D055956 MeSH: D055956 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants