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Human Disease Ontology
Last uploaded:
November 27, 2024
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| Preferred Name | congenital generalized lipodystrophy | |
| Synonyms |
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| Definitions |
A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance. OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0050585 |
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| comment |
OMIM mapping confirmed by DO. [SN].
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| database_cross_reference |
MIM:PS608594 GARD:13388
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| definition |
A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance.
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| disease has basis in | ||
| has material basis in | ||
| has_obo_namespace |
disease_ontology
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| id |
DOID:0050585
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| in_subset | ||
| label |
congenital generalized lipodystrophy
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| notation |
DOID:0050585
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| prefLabel |
congenital generalized lipodystrophy
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| subClassOf |
http://purl.obolibrary.org/obo/DOID_0080298 |
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