| Metadata | |
|---|---|
| ID | DOID:0090112 |
| Name | Nasu-Hakola disease |
| Definition | A syndrome 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. https://www.omim.org/entry/221770, https://ghr.nlm.nih.gov/condition/polycystic-lipomembranous-osteodysplasia-with-sclerosing-leukoencephalopathy, https://www.ncbi.nlm.nih.gov/pubmed/30042649 |
| Xrefs |
SNOMEDCT_US_2023_03_01:702347001 |
| Subsets |
DO_rare_slim |
| Synonyms |
NHD [EXACT] PLO-SL [EXACT] PLOSL [EXACT] polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy [EXACT] presenile dementia with bone cysts [EXACT] progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |