Experimental Factor Ontology

Last uploaded: September 16, 2024

Preferred Name	obsolete_46,XY complete gonadal dysgenesis
Synonyms	Swyer syndrome 46,XY pure gonadal dysgenesis 46,XY CGD
Definitions	46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.
ID	http://www.orpha.net/ORDO/Orphanet_242
Obsolete	true
database_cross_reference	UMLS:C2936694 OMIM:613762 OMIM:613080 ICD10:Q97.3 OMIM:233420 OMIM:154230 OMIM:300018 OMIM:400044 OMIM:612965 OMIM:616425
definition	46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.
definition_citation	orphanet
deprecated	true
has_exact_synonym	Swyer syndrome 46,XY pure gonadal dysgenesis 46,XY CGD
label	obsolete_46,XY complete gonadal dysgenesis
obsoleted_in_version	3.41.0
preferred label	obsolete_46,XY complete gonadal dysgenesis
prefLabel	obsolete_46,XY complete gonadal dysgenesis
reason_for_obsolescence	Replaced with Mondo term.
term replaced by	http://purl.obolibrary.org/obo/MONDO_0010765
subClassOf	http://www.w3.org/2002/07/owl#Thing

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Delete	Mapping To	Ontology	Source
	http://www.orpha.net/ORDO/Orphanet_242	ORDO	SAME_URI