Osteofibrous dysplasia, susceptibility to

Preferred Label : Osteofibrous dysplasia, susceptibility to;

Symbol : OSFD;

CISMeF acronym : OFD; OSFD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Tibia, bowing of, with pseudarthrosis and pectus excavatum; OFD;

Description : Osteofibrous dysplasia is a tumor-like bone lesion that usually presents as a painless swelling or anterior bowing of the tibia (Park et al., 1993), although pain may occur in up to 25% of cases and presentation may follow pathologic fracture. Most reports of osteofibrous dysplasia describe isolated tibial lesions, although a significant subgroup describe isolated and ipsilateral fibular involvement. Cases with ulnar and radial involvement have been reported (summary by Hunter and Jarvis, 2002).;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility is conferred by mutation in the MET protooncogene gene (MET, 164860.0013);

Prefixed ID : #607278;

Détails

Origin ID

607278;

UMLS CUI

C4085248;

Automatic exact mappings (from CISMeF team)
- Occipital frontal diameter [LOINC component]
- Orofaciodigital syndrome [ORDO Disease]
- Osteofibrous dysplasia [ORDO Disease]
- tibia, bowing of, with pseudarthrosis and pectus excavatum [MeSH Supplementary Concept]
- tibia, bowing of, with pseudarthrosis and pectus excavatum [MeSH concept]
Currated CISMeF NLP mapping
- Fibrous Dysplasia [NCIt concept]
- Fibrous dysplasia (disorder) [SNOMED CT concept]
- Fibrous dysplasia of bone [ICD-11 Subcategory]
- Fibrous dysplasia of bone [ORDO Disease]
- Fibrous dysplasia of bone [MedDRA Preferred Term]
- Fibrous dysplasia of bone (disorder) [SNOMED CT concept]
- Fibrous dysplasia of the bones [HPO term]
- Osteofibrous Dysplasia [NCIt concept]
- fibrous dysplasia [Radlex concept]
- fibrous dysplasia of bone [MeSH concept]
- fibrous dysplasia of bone [MeSH Descriptor]
- fibrous dysplasia of bone, nos [SNOMED Notion]
- osteofibrous dysplasia [MeSH concept]
- osteofibrous dysplasia [MeSH Supplementary Concept]
Genes related to phenotype
- Met protooncogene, receptor tyrosine kinase [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Fibular hypoplasia [HPO term]
- Pectus excavatum [HPO term]
- Pseudoarthrosis [HPO term]
ORDO concept(s)
- Congenital pseudoarthrosis of the limbs [ORDO Disease]
- Osteofibrous dysplasia [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

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

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