Search Ontology:
Human Disease
mandibuloacral dysplasia
- Term ID
- DOID:0081127
- Synonyms
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- 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. (3)
- References
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- GARD:11893
- MIM:PS248370
- ORDO:2457
- Ontology
- Human Disease ( DOID:0081127 )
- is a type of
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- has subtype
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Other Pages
Genes Involved
Zebrafish Models