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Ontology Browser

Term:
Nasu-Hakola disease (DOID:0090112)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
Nasu-Hakola disease  
An autosomal recessive disease that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has_material_basis_in homozygous mutation in the TYRO protein tyrosine kinase binding protein (TYROBP) gene on chromosome 19q13 or homozygous mutation in the triggering receptor expressed on myeloid cells 2 (TREM2) gene on chromosome 6p21. (DO)
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2  

Synonyms
Exact Synonyms: NHD ;   PLO-SL ;   PLOSL ;   PLOSL1 ;   brain-bone-fat disease ;   polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ;   polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 ;   prefrontal dementia with bone cysts ;   presenile dementia with bone cysts ;   progressive dementia with lipomembranous polycystic osteodysplasia ;   progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease
Primary IDs: MESH:C536329
Alternate IDs: OMIM:221770 ;   RDO:0001870
Xrefs: GARD:9921 ;   ORDO:2770
Definition Sources: https://ghr.nlm.nih.gov/condition/polycystic-lipomembranous-osteodysplasia-with-sclerosing-leukoencephalopathy, https://www.ncbi.nlm.nih.gov/pubmed/30042649, https://www.omim.org/entry/221770

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.