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familial glucocorticoid deficiency

^ http://purl.obolibrary.org/obo/MONDO_0008733

Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency. [ Orphanet:361 ]

Term info

database cross reference
  • OMIMPS:202200 (MONDO:equivalentTo)
  • MESH:C565974 (MONDO:equivalentTo)
  • NCIT:C120446 (MONDO:equivalentTo)
  • SCTID:765326001 (MONDO:equivalentTo)
  • DOID:0080620 (MONDO:equivalentTo)
  • GARD:0002498 (MONDO:equivalentTo)
  • Orphanet:361 (OMIM:202200)
  • UMLS:CN204661 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

abbreviation
GCCD [ OMIM:202200 MONDO:Lexical ]

definition

Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency.

exactMatch

https://omim.org/phenotypicSeries/PS202200, http://purl.obolibrary.org/obo/DOID_0080620, http://purl.obolibrary.org/obo/Orphanet_361, http://identifiers.org/mesh/C565974, http://identifiers.org/snomedct/765326001, http://purl.obolibrary.org/obo/NCIT_C120446, http://linkedlifedata.com/resource/umls/id/CN204661

has broad synonym

glucocorticoid deficiency

id

MONDO:0008733

seeAlso

https://rarediseases.info.nih.gov/diseases/2498/familial-glucocorticoid-deficiency