Gnathodiaphyseal dysplasia

Preferred Label : Gnathodiaphyseal dysplasia;

Symbol : GDD;

CISMeF acronym : GDD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Osteogenesis imperfecta with unusual skeletal lesions; Gnathodiaphyseal sclerosis;

Description : Gnathodiaphyseal dysplasia (GDD) is an autosomal dominant generalized skeletal syndrome characterized by cementoosseous lesions of the jawbones, in conjunction with bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones (summary by Marconi et al., 2013).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the anoctamin 5 gene gene (ANO5, 608662.0001);

Prefixed ID : #166260;

Détails

Origin ID

166260;

UMLS CUI

C1833736;

Automatic exact mappings (from CISMeF team)
- Gnathodiaphyseal dysplasia [ICD-11 More detail]
- Osteogenesis imperfecta, Levin type [MeSH concept]
- gnathodiaphyseal dysplasia [DO Concept]
Currated CISMeF NLP mapping
- Gnathodiaphyseal dysplasia [ORDO Disease]
- Gnathodiaphyseal dysplasia syndrome (disorder) [SNOMED CT concept]
- gnathodiaphyseal dysplasia [Disease (Nov.)]
- osteogenesis imperfecta, levin type [MeSH Supplementary Concept]
DO Cross reference
- gnathodiaphyseal dysplasia [DO Concept]
Genes related to phenotype
- Anoctamin 5 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bowing of the long bones [HPO term]
- Diaphyseal bowing of long bones [HPO term]
- Diaphyseal cortical sclerosis [HPO term]
- Genu varus [HPO term]
- Increased susceptibility to fractures [HPO term]
- Osteomyelitis [HPO term]
- Osteopenia [HPO term]
ORDO concept(s)
- Gnathodiaphyseal dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gnathodiaphyseal dysplasia [ORDO Disease]
- Gnathodiaphyseal dysplasia syndrome (disorder) [SNOMED CT concept]
- Osteogenesis imperfecta, Levin type [MeSH concept]
- gnathodiaphyseal dysplasia [Disease (Nov.)]
- gnathodiaphyseal dysplasia [DO Concept]
- osteogenesis imperfecta, levin type [MeSH Supplementary Concept]

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

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