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| Term | Nasu-Hakola disease | ID (Ontology) | DOID:0090112 (Human 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. | ||
| Also Known As | "NHD" ; "PLO-SL" ; "PLOSL" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ disease | |__syndrome_____________________| Nasu-Hakola disease |
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| Is a |
autosomal recessive disease syndrome |
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External Crossreferences & Linkouts
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GARD:9921 MESH:C536329 MIM:221770 ORDO:2770 SNOMEDCT_US_2023_03_01:702347001 UMLS_CUI:C1857316 |
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