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loading...| Preferred Name | Combined Pituitary Hormone Deficiency | |
| Synonyms |
Panhypopituitarism |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C580003 |
|
| altLabel |
Panhypopituitarism |
|
| cui |
C0242343 |
|
| HM |
D007018 |
|
| Inverse of RB |
0 |
|
| Mapped to | ||
| MDA |
20131024 |
|
| MeSH Frequency |
305 |
|
| MMR |
20150818 |
|
| notation |
C580003 |
|
| prefLabel |
Combined Pituitary Hormone Deficiency |
|
| SC |
3 |
|
| Scope Statement |
A hereditary autosomal recessive form of hypopituitarism that is characterized by growth retardation, HYPOTHYROIDISM, reduced levels of CORTISOL, and absent or DELAYED PUBERTY due to low levels of LUTEINIZING HORMONE or FOLLICLE-STIMULATING HORMONE . Rarely, INTELLECTUAL DISABILITY, neck abnormalities, and OPTIC NERVE defects may also occur. Mutations in the PROP1 gene have been identified in some cases. OMIM: 262600 |
|
| TERMUI |
T841145 T368542 |
|
| TH |
OMIM (2013) NLM (2000) GHR (2014) ORD (2010) |
|
| tui |
T047 |
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