mandibuloacral dysplasia
Information
- Disease name
- mandibuloacral dysplasia
- Disease ID
- DOID:0081127
- Description
- "A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body." [url:https\://medlineplus.gov/genetics/condition/mandibuloacral-dysplasia/, url:https\://pubmed.ncbi.nlm.nih.gov/29208544/, url:https\://rarediseases.org/rare-diseases/mandibuloacral-dysplasia/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0080006
- Cross Reference ID (Disease Ontology)
- GARD:11893
- Cross Reference ID (Disease Ontology)
- MIM:PS248370
- Cross Reference ID (Disease Ontology)
- ORDO:2457
- OrphaNumber from OrphaNet (Orphanet)
- 2457