Jump to:
loading...| Preferred Name |
Pro-Opiomelanocortin Deficiency |
|
| Synonyms |
|
|
| Definitions |
Deficiency of the hormone precursor, pro-opiomelanocortin, associated with loss-of-function mutation(s) in the POMC gene. |
|
| ID |
http://purl.obolibrary.org/obo/NCIT_C120393 |
|
| ALT_DEFINITION |
Deficiency of the hormone precursor pro-opiomelanocortin, which is associated with loss-of-function mutation(s) in the POMC gene. |
|
| code |
C120393 |
|
| Contributing_Source |
NICHD |
|
| definition |
Deficiency of the hormone precursor, pro-opiomelanocortin, associated with loss-of-function mutation(s) in the POMC gene. |
|
| in_subset | ||
| label |
Pro-Opiomelanocortin Deficiency |
|
| Preferred_Name |
Pro-Opiomelanocortin Deficiency |
|
| prefixIRI |
NCIT:C120393 |
|
| prefLabel |
Pro-Opiomelanocortin Deficiency |
|
| Semantic_Type |
Finding |
|
| UMLS_CUI |
C1857854 |
|
| 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://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C120393 | NCIT | LOOM | |
| http://phenomebrowser.net/ontologies/mesh/mesh.owl#C565726 | RH-MESH | LOOM |