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loading...| Preferred Name |
Pro-Opiomelanocortin Deficiency |
|
| Synonyms |
Pro-Opiomelanocortin Deficiency POMC Deficiency |
|
| Definitions |
Deficiency of the hormone precursor, pro-opiomelanocortin, associated with loss-of-function mutation(s) in the POMC gene. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C120393 |
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| ALT_DEFINITION |
Deficiency of the hormone precursor pro-opiomelanocortin, which is associated with loss-of-function mutation(s) in the POMC gene. |
|
| code |
C120393 |
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| Concept_In_Subset | ||
| Contributing_Source |
NICHD |
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| DEFINITION |
Deficiency of the hormone precursor, pro-opiomelanocortin, associated with loss-of-function mutation(s) in the POMC gene. |
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| FULL_SYN |
Pro-Opiomelanocortin Deficiency POMC Deficiency |
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| label |
Pro-Opiomelanocortin Deficiency |
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| Preferred_Name |
Pro-Opiomelanocortin Deficiency |
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| prefixIRI |
Thesaurus:C120393 |
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| Semantic_Type |
Finding |
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| UMLS_CUI |
C1857854 |
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| subClassOf |
Create mapping
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MEDDRA/10083937 | MEDDRA | LOOM | |
| http://purl.bioontology.org/ontology/MESH/C565726 | MESH | LOOM | |
| http://purl.obolibrary.org/obo/NCIT_C120393 | BERO | LOOM | |
| http://phenomebrowser.net/ontologies/mesh/mesh.owl#C565726 | RH-MESH | LOOM |