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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 ]

Synonyms: multiple pituitary hormone deficiencies, genetic forms combined pituitary hormone deficiencies, genetic form pituitary hormone deficiency, combined familial congenital hypopituitarism genetic hypopituitarism

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:10602 (Orphanet:95494)
  • Orphanet:95494 (OMIM:613038)
  • ICD10CM:E23.0 (Orphanet:95494/ntbt)
  • SCTID:718182008 (MONDO:equivalentTo)
  • OMIMPS:613038 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

exactMatch

https://omim.org/phenotypicSeries/PS613038

http://identifiers.org/snomedct/718182008

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

has related synonym

combined pituitary hormone deficiencies, genetic forms

familial hypopituitarism

id

MONDO:0013099

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0013099

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