loading...| Preferred Name |
46,XY complete gonadal dysgenesis |
|
| Synonyms |
testis-determining Factor, X-chromosomal sex-reversing locus on X, formerly sex-reversing locus on X gonadal dysgenesis, XY female type Swyer syndrome 46, XY pure gonadal dysgenesis 46 XY gonadal dysgenesis 46,XY SEX reversal 46,XY pure gonadal dysgenesis pure gonadal dysgenesis 46,XY 46, XY complete gonadal dysgenesis 46,XY gonadal dysgenesis 46, XY CGD 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://purl.obolibrary.org/obo/MONDO_0010765 |
|
| database_cross_reference |
UMLS:C2936694 MESH:D006061 NCIT:C120198 SCTID:95218005 OMIMPS:400044 Orphanet:242 DOID:14448 GARD:5068 NORD:1750 |
|
| 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. |
|
| exactMatch |
http://identifiers.org/snomedct/95218005 https://omim.org/phenotypicSeries/PS400044 http://purl.obolibrary.org/obo/DOID_14448 http://purl.obolibrary.org/obo/Orphanet_242 http://identifiers.org/mesh/D006061 |
|
| has_exact_synonym |
Swyer syndrome 46, XY pure gonadal dysgenesis 46 XY gonadal dysgenesis 46,XY SEX reversal 46,XY pure gonadal dysgenesis pure gonadal dysgenesis 46,XY 46, XY complete gonadal dysgenesis 46,XY gonadal dysgenesis 46, XY CGD 46,XY CGD |
|
| has_related_synonym |
testis-determining Factor, X-chromosomal sex-reversing locus on X, formerly sex-reversing locus on X gonadal dysgenesis, XY female type |
|
| IAO_0000233 | ||
| id |
MONDO:0010765 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#prototype_pattern http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
| label |
46,XY complete gonadal dysgenesis |
|
| notation |
MONDO:0010765 |
|
| preferred label |
46,XY complete gonadal dysgenesis |
|
| prefLabel |
46,XY complete gonadal dysgenesis |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0024573 |
|
| excluded_subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0010765 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0010765 | DOVES | SAME_URI | |
| http://www.limics.org/hrdo/rdfns#pat_id_1044 | HRDO | LOOM | |
| http://www.orpha.net/ORDO/Orphanet_242 | ORDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0010765 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0010765 | DOVES | LOOM | |
| http://www.orpha.net/ORDO/Orphanet_242 | ORDO | LOOM |