|  Help  |  About  |  Contact Us

DO Term : familial expansile osteolysis [DOID:0111542] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A bone remodeling disease characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton, bone pain, pathological fractures, childhood onset of conductive hearing loss, and premature tooth loss that has_material_basis_in heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.33.
  • synonyms:
  • GARD:9168,
  • UMLS_CUI:C0432292,
  • 174810,
  • MESH:C536335,
  • FEO,
  • hereditary expansile polyostotic osteolytic dysplasia,
  • SNOMEDCT_US_2023_03_01:254153009,
  • McCabe disease,
  • ORDO:85195,
  • OMIM:174810
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents