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congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

^ http://purl.obolibrary.org/obo/MONDO_0013310

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations. [ Orphanet:95699 ]

Term info

database cross reference
  • Orphanet:95699 (OMIM:613571)
  • GARD:0012664 (MONDO:equivalentTo)
  • SCTID:715733000 (MONDO:equivalentTo)
  • OMIM:613571 (Orphanet:95699/e)
  • NCIT:C174439 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

abbreviation
PORD [ Orphanet:95699 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4069

definition

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.

exactMatch

http://identifiers.org/snomedct/715733000, https://omim.org/entry/613571, http://purl.obolibrary.org/obo/Orphanet_95699, http://purl.obolibrary.org/obo/NCIT_C174439

has exact synonym

PORD, POR deficiency, congenital adrenal hyperplasia due to cytochrome POR deficiency

has related synonym

adrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency, disordered steroidogenesis due to cytochrome P450 oxidoreductase, disordered steroidogenesis due to POR deficiency, disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency

id

MONDO:0013310

seeAlso

https://rarediseases.info.nih.gov/diseases/12664/congenital-adrenal-hyperplasia-due-to-cytochrome-p450-oxidoreductase-deficiency