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Regulation of Gene Expression Ontolology
Last uploaded:
December 16, 2015
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| Id | http://identifiers.org/omim/248370
http://identifiers.org/omim/248370
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|---|---|
| Preferred Name | Mandibuloacral dysplasia with type A lipodystrophy |
| Definitions |
(MADA) - A disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, progeroid appearance, partial alopecia, soft tissue calcinosis, joint contractures, and partial lipodystrophy with loss of subcutaneous fat from the extremities. Adipose tissue in the face, neck and trunk is normal or increased.
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| Synonyms |
MADA
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | (MADA) - A disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, progeroid appearance, partial alopecia, soft tissue calcinosis, joint contractures, and partial lipodystrophy with loss of subcutaneous fat from the extremities. Adipose tissue in the face, neck and trunk is normal or increased. |
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| altLabel |
MADA
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| prefLabel |
Mandibuloacral dysplasia with type A lipodystrophy
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| notation |
OMIM:248370
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| id |
OMIM:248370
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| subClassOf | |
| type |
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