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Diseases

Pituitary Dwarfism

pituitary dwarfism

Entity Type
Diseases
Relation Groups
1
Relation Preview
8

Basic Information

Grouped by core information, identifiers, and descriptions.

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Core Information

Disease Name
Pituitary Dwarfism
Standard Disease Name
pituitary dwarfism
MeSH Tree
No data
ICD-10
E23.0

Identifiers

DO ID
No data
MeSH ID
D004393
OMIM ID
MTHU017678
UMLS ID
C0013338
HPO ID
No data

Description and Extensions

Description
MSH2017_2016_08_12:A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from the HYPOTHALAMUS or from the mutations in the growth hormone gene (GH1) in the PITUITARY GLAND. It is also known as Type I pituitary dwarfism. Human hypophysial dwarf is caused by a deficiency of HUMAN GROWTH HORMONE during development.|HPO2016_07_04:A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones. [HPO:probinson]|CSP2006:form of dwarfism due to deficient release of growth hormone which may result from dysfunction of the hypothalamus or anterior pituitary gland.
Related

Direct relations and traceable candidates grouped by relation type.

Related Targets

target disease8 Targets
04
NR5A1
nuclear receptor subfamily 5 group A member 1
nuclear receptor subfamily 5 group A member 1