loading...| Preferred Name |
46,XY complete gonadal dysgenesis |
|
| Synonyms |
sex-reversing locus on X, formerly gonadal dysgenesis, XY female type testis-determining Factor, X-chromosomal sex-reversing locus on X 46,XY pure gonadal dysgenesis 46, XY pure gonadal dysgenesis 46, XY complete gonadal dysgenesis 46,XY gonadal dysgenesis 46, XY CGD 46,XY SEX reversal 46,XY CGD 46 XY gonadal dysgenesis pure gonadal dysgenesis 46,XY Swyer syndrome |
|
| 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 |
|
| altLabel |
sex-reversing locus on X, formerly gonadal dysgenesis, XY female type testis-determining Factor, X-chromosomal sex-reversing locus on X 46,XY pure gonadal dysgenesis 46, XY pure gonadal dysgenesis 46, XY complete gonadal dysgenesis 46,XY gonadal dysgenesis 46, XY CGD 46,XY SEX reversal 46,XY CGD 46 XY gonadal dysgenesis pure gonadal dysgenesis 46,XY Swyer syndrome |
|
| 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. |
|
| has_exact_synonym |
46,XY pure gonadal dysgenesis 46, XY pure gonadal dysgenesis 46, XY complete gonadal dysgenesis 46,XY gonadal dysgenesis 46, XY CGD 46,XY SEX reversal 46,XY CGD 46 XY gonadal dysgenesis pure gonadal dysgenesis 46,XY Swyer syndrome |
|
| has_related_synonym |
sex-reversing locus on X, formerly gonadal dysgenesis, XY female type testis-determining Factor, X-chromosomal sex-reversing locus on X |
|
| label |
46,XY complete gonadal dysgenesis |
|
| prefixIRI |
MONDO:0010765 |
|
| prefLabel |
46,XY complete gonadal dysgenesis |
|
| textual 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. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0024573 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0010765 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0010765 | EFO | 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 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0010765 | MONDO | LOOM | |
| http://www.orpha.net/ORDO/Orphanet_242 | ORDO | LOOM |