(Q5572316)

English

Glucocorticoid deficiency 1

human disease

GCCD1
Acth Resistance
Familial Glucocorticoid Deficiency 1
GLUCOCORTICOID DEFICIENCY 1; GCCD1
Adrenal Unresponsiveness to Acth
adrenocorticotropin resistance syndrome

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Statements

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congenital adrenal insufficiency

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genetic association

MC2R

2 references

stated in

Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor

stated in

Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene

exact match

http://www.orpha.net/ORDO/Orphanet_361

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Identifiers

GARD rare disease ID

2498

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Microsoft Academic ID

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mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

(Q5572316)

Glucocorticoid deficiency 1

Statements

Identifiers

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