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DO Term : mandibuloacral dysplasia [DOID:0081127] Disease Ontology

Namespace  disease_ontology Obsolete  false
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.
  • synonyms:
  • ORDO:2457,
  • OMIM:PS248370,
  • GARD:11893,
  • PS248370
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents