JSON

combined pituitary hormone deficiencies, genetic form

Go to external page http://purl.obolibrary.org/obo/MONDO_0013099

Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy. [ Orphanet:95494 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:0002252 (MONDO:equivalentTo)
  • ICD10:E23.0 (Orphanet:95494)
  • Orphanet:95494 (OMIM:613038)
  • SCTID:718182008 (MONDO:equivalentTo)
  • GARD:0010602 (Orphanet-shared)
  • OMIMPS:613038 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/hereditary.yaml

definition

Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.

exactMatch

http://identifiers.org/snomedct/718182008

http://www.orpha.net/ORDO/Orphanet_95494

has exact synonym

multiple pituitary hormone deficiencies, genetic forms

pituitary hormone deficiency, combined

familial congenital hypopituitarism

genetic hypopituitarism

has related synonym

combined pituitary hormone deficiencies, genetic forms

familial hypopituitarism

id

MONDO:0013099

seeAlso

https://rarediseases.info.nih.gov/diseases/2252/familial-hypopituitarism

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml