Pituitary adenoma 2, growth hormone-secreting

Preferred Label : Pituitary adenoma 2, growth hormone-secreting;

Symbol : PITA2;

CISMeF acronym : PITA2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Acromegaly due to pituitary adenoma 2; Acromegaly, X-linked;

Inheritance : X-linked;

Molecular basis : Caused by mutation in the G protein-coupled receptor 101 gene (GPR101, 300393.0001);

Prefixed ID : #300943;

Details

Origin ID

300943;

UMLS CUI

C4012409;

Currated CISMeF NLP mapping
- growth hormone secreting pituitary adenoma 2 [DO Concept]
DO Cross reference
- growth hormone secreting pituitary adenoma 2 [DO Concept]
Genes related to phenotype
- G protein-coupled receptor 101 [OMIM gene]
HPO term(s)
- Elevated circulating growth hormone concentration [HPO term]
- Pituitary adenoma [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Acromegaly [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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