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Human Disease

mandibuloacral dysplasia

Term ID
DOID:0081127
Synonyms
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
Ontology
Human Disease   ( DOID:0081127 )
Relationships
is a type of
has subtype
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Genes Involved
Zebrafish Models