FNS-Harmony

Last uploaded: November 2, 2023

Preferred Name	46,XY sex reversal 3
Synonyms
Definitions	A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in NR5A1 on chromosome 9q33.3.
ID	http://purl.obolibrary.org/obo/DOID_0111772
definition	A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in NR5A1 on chromosome 9q33.3.
imported from	http://purl.obolibrary.org/obo/doid.owl
label	46,XY sex reversal 3
prefixIRI	DOID:0111772
prefLabel	46,XY sex reversal 3
subClassOf	http://purl.obolibrary.org/obo/DOID_14448 http://purl.obolibrary.org/obo/DOID_0050736

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0111772	DDSS	SAME_URI
http://purl.obolibrary.org/obo/DOID_0111772	DOID	SAME_URI
http://purl.obolibrary.org/obo/DOID_0111772	HHEAR	SAME_URI
http://purl.obolibrary.org/obo/DOID_0111772	NIFSTD	SAME_URI
http://purl.obolibrary.org/obo/DOID_0111772	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0111772	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0013066	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0013066	MONDO	LOOM
http://purl.obolibrary.org/obo/OMIM_612965	CCO	LOOM
http://identifiers.org/omim/612965	REXO	LOOM
http://identifiers.org/omim/612965	GEXO	LOOM
http://identifiers.org/omim/612965	RETO	LOOM
http://purl.bioontology.org/ontology/OMIM/612965	OMIM	LOOM
http://purl.obolibrary.org/obo/DOID_0111772	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0111772	NIFSTD	LOOM
http://purl.obolibrary.org/obo/MONDO_0013066	DOVES	LOOM