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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:familial glucocorticoid deficiency
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Accession:EFO:MONDO:0008733 term browser browse the term
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.
Synonyms:exact_synonym: DOID:0080620;   NCIT:C120446;   Orphanet:361;   http://identifiers.org/medgen/885955;   http://identifiers.org/mesh/C565974;   http://identifiers.org/snomedct/765326001;   http://linkedlifedata.com/resource/umls/id/C4054695;   http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/861297039;   https://omim.org/phenotypicSeries/PS202200
 broad_synonym: glucocorticoid deficiency
 related_synonym: GCCD
 alt_id: MONDO:0008733
 xref: DOID:0080620;   GARD:2498;   MEDGEN:885955;   MESH:C565974;   MIM:PS202200;   NCI:C120446;   ORDO:361;   SCTID:765326001;   UMLS:C4054695;   icd11.foundation:861297039
 see_also: https://rarediseases.info.nih.gov/diseases/2498/familial-glucocorticoid-deficiency" xsd:anyURI {source="GARD:0002498


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            familial glucocorticoid deficiency 0
Path 2
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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          endocrine system disease 0
            adrenal gland disease 0
              adrenal cortex disorder 0
                adrenocortical insufficiency 0
                  chronic primary adrenal insufficiency 0
                    familial glucocorticoid deficiency 0
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