(Q18553299)

English

congenital adrenal insufficiency

Human disease

ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
P450scc DEFICIENCY
46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome
XY sex reversal-adrenal failure syndrome

In more languages

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Statements

instance of

developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

adrenal gland disease

1 reference

29 November 2020

adrenal insufficiency

0 references

Addison's disease

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0013400

46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0013400

rare genetic adrenal disease

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

15 May 2019

autosomal recessive disease

1 reference

29 November 2020

autosomal dominant disease

1 reference

29 November 2020

on focus list of Wikimedia project

WikiProject Medicine

0 references

exact match

http://purl.obolibrary.org/obo/DOID_0050546

1 reference

29 November 2020

http://identifiers.org/doid/DOID:0050546

1 reference

stated in

Identifiers.org

reference URL

https://registry.identifiers.org/registry/doid

http://www.orpha.net/ORDO/Orphanet_168558

0 references

Identifiers

MeSH descriptor ID

C566130

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

29 November 2020

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

1 reference

28 August 2019

mapping relation type

exact 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

1 reference

inferred by common MeSH mappings on source and on Wikidata

25 May 2023

1 reference

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

0 references

(Q18553299)

congenital adrenal insufficiency

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Identifiers

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