Experimental Factor Ontology

Last uploaded: July 4, 2024
Preferred Name

premature ovarian failure 7

Synonyms

adrenal insufficiency, Nr5A1-related

Pof7

adrenocortical insufficiency

premature ovarian failure 7

primary ovarian failure caused by mutation in NR5A1

premature ovarian failure type 7

NR5A1 primary ovarian failure

Definitions

Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene.

ID

http://purl.obolibrary.org/obo/MONDO_0013065

database_cross_reference

DOID:0080864

UMLS:C2751825

MESH:C567838

OMIM:612964

definition

Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene.

exactMatch

http://purl.obolibrary.org/obo/DOID_0080864

https://omim.org/entry/612964

http://identifiers.org/mesh/C567838

http://linkedlifedata.com/resource/umls/id/C2751825

has_broad_synonym

adrenocortical insufficiency

has_exact_synonym

premature ovarian failure 7

primary ovarian failure caused by mutation in NR5A1

premature ovarian failure type 7

NR5A1 primary ovarian failure

has_related_synonym

adrenal insufficiency, Nr5A1-related

Pof7

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4521

id

MONDO:0013065

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

label

premature ovarian failure 7

notation

MONDO:0013065

preferred label

premature ovarian failure 7

prefLabel

premature ovarian failure 7

subClassOf

http://purl.obolibrary.org/obo/MONDO_0019852

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