| Metadata | |
|---|---|
| ID | DOID:0081127 |
| Name | mandibuloacral dysplasia |
| Definition | 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. https://medlineplus.gov/genetics/condition/mandibuloacral-dysplasia/, https://pubmed.ncbi.nlm.nih.gov/29208544/, https://rarediseases.org/rare-diseases/mandibuloacral-dysplasia/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |