Familial expansile osteolysis

Preferred Label : Familial expansile osteolysis;

Symbol : FEO;

CISMeF acronym : EOF; FEO; HEPOD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Polyostotic osteolytic dysplasia, hereditary expansile; Mccabe disease; Expansile osteolysis, familial; HEPOD; EOF;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the tumor necrosis factor receptor superfamily, member 11A gene (TNFRSF11A, 603499.0001);

Laboratory abnormalities : Elevated serum alkaline phosphatase; Elevated urinary hydroxyproline;

Prefixed ID : #174810;

Détails

Origin ID

174810;

UMLS CUI

C0432292;

Automatic exact mappings (from CISMeF team)
- EOF Regimen [NCIt concept]
- Familial expansile osteolysis [PASCAL descriptor]
- Familial expansile osteolysis [ICD-11 More detail]
- Familial expansile osteolysis (disorder) [SNOMED CT concept]
- TNF receptor superfamily member 11a [ORDO Gene]
- TNF receptor superfamily member 11a [HGNC gene]
- TNFRSF11A wt Allele [NCIt concept]
- familial expansile osteolysis [DO Concept]
- ferrous oxide [MeSH Supplementary Concept]
- symbol withdrawn PDB2 [HGNC gene]
Currated CISMeF NLP mapping
- Familial expansile osteolysis [ORDO Disease]
- Polyostotic osteolytic dysplasia, hereditary expansile [MeSH concept]
- polyostotic osteolytic dysplasia, hereditary expansile [MeSH Supplementary Concept]
DO Cross reference
- familial expansile osteolysis [DO Concept]
Genes related to phenotype
- Tumor necrosis factor receptor superfamily, member 11a [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bone pain [HPO term]
- Bowing of the long bones [HPO term]
- Conductive hearing impairment [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Fragile teeth [HPO term]
- Hydroxyprolinuria [HPO term]
- Osteolysis [HPO term]
- Pathologic fracture [HPO term]
- Premature loss of teeth [HPO term]
- Progressive [HPO term]
- Thin bony cortex [HPO term]
ORDO concept(s)
- Familial expansile osteolysis [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Familial expansile osteolysis [ORDO Disease]
- Familial expansile osteolysis (disorder) [SNOMED CT concept]
- Polyostotic osteolytic dysplasia, hereditary expansile [MeSH concept]
- familial expansile osteolysis [DO Concept]
- polyostotic osteolytic dysplasia, hereditary expansile [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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