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Human Health Exposure Analysis Resource
Last uploaded:
July 19, 2024
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| Preferred Name | mandibuloacral dysplasia | |
| Synonyms |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0081127 |
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| database_cross_reference |
MIM:PS248370 GARD:11893 ORDO:2457
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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.
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| has_obo_namespace |
disease_ontology
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| id |
DOID:0081127
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| in_subset | ||
| label |
mandibuloacral dysplasia
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| notation |
DOID:0081127
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|
| note |
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.
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|
| preferred label |
mandibuloacral dysplasia
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| prefLabel |
mandibuloacral dysplasia
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| subClassOf |
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