gnathodiaphyseal dysplasia
Information
- Disease name
- gnathodiaphyseal dysplasia
- Disease ID
- DOID:0111533
- Description
- "An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in the ANO5 gene on chromosome 11p14.3." [url:https\://ghr.nlm.nih.gov/condition/gnathodiaphyseal-dysplasia, url:https\://www.ncbi.nlm.nih.gov/pubmed/15124103, url:https\://www.ncbi.nlm.nih.gov/pubmed/23047743]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:2256
- Cross Reference ID (Disease Ontology)
- GARD:8698
- Cross Reference ID (Disease Ontology)
- MESH:C536039
- Cross Reference ID (Disease Ontology)
- MIM:166260
- Cross Reference ID (Disease Ontology)
- ORDO:53697
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:715568002
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1833736
- Exact Synonym (Disease Ontology)
- GDD
- Exact Synonym (Disease Ontology)
- gnathodiaphyseal sclerosis
- Exact Synonym (Disease Ontology)
- Levin syndrome 2
- Exact Synonym (Disease Ontology)
- osteogenesis imperfecta with unusual skeletal lesions
- Exact Synonym (Disease Ontology)
- osteogenesis imperfecta, Levin type
- OrphaNumber from OrphaNet (Orphanet)
- 53697
- MedGen concept unique identifier (MedGen Concept name)
- C1833736
- MedGen unique identifier (MedGen Concept name)
- 331575