Glucocorticoid deficiency 3

Preferred Label : Glucocorticoid deficiency 3;

Symbol : GCCD3;

CISMeF acronym : FGD3; GCCD2; GCCD3;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Glucocorticoid deficiency 2; FGD3; GCCD2; Familial glucocorticoid deficiency 3;

Description : For a general phenotypic description and a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (202200).;

Inheritance : Autosomal recessive;

Laboratory abnormalities : Hypoglycemia; Elevated plasma adrenocorticotropic hormone (ACTH); Low plasma cortisol; Normal plasma aldosterone; Normal plasma renin;

Prefixed ID : %609197;

Details

Origin ID

609197;

UMLS CUI

C1836621;

Automatic exact mappings (from CISMeF team)
- Familial Glucocorticoid Deficiency Type 2 [NCIt concept]
- Familial Glucocorticoid Deficiency Type 3 [NCIt concept]
- Familial glucocorticoid deficiency [ORDO Disease]
- glucocorticoid deficiency 2 [MeSH concept]
- glucocorticoid deficiency 2 [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Familial glucocorticoid deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- glucocorticoid deficiency 3 [MeSH concept]
- glucocorticoid deficiency 3 [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Recurrent hypoglycemia [HPO term]
Not associated HPO term(s)
- Abnormal circulating aldosterone [HPO term]
- Abnormal circulating renin [HPO term]
ORDO concept(s)
- Familial glucocorticoid deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Glucocorticoid Deficiency Type 3 [NCIt concept]
- glucocorticoid deficiency 3 [MeSH Supplementary Concept]
- glucocorticoid deficiency 3 [MeSH concept]

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