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DO Term : Nasu-Hakola disease [DOID:0090112] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease,
  • SNOMEDCT_US_2023_03_01:702347001,
  • PLO-SL,
  • polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy,
  • UMLS_CUI:C1857316,
  • ORDO:2770,
  • OMIM:221770,
  • MESH:C536329,
  • presenile dementia with bone cysts,
  • PLOSL,
  • NHD,
  • GARD:9921,
  • 221770
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