loading...| Preferred Name | 46,XY complete gonadal dysgenesis | |
| Synonyms |
Swyer syndrome 46,XY CGD 46,XY pure gonadal dysgenesis |
|
| Definitions |
A rare disorder/difference of sex development (DSD) associated with absence in gonadal development that results in the presence of female appearing external and internal genitalia in presence of a 46,XY karyotype. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_242 |
|
| alternative_term |
Swyer syndrome 46,XY CGD 46,XY pure gonadal dysgenesis |
|
| definition |
A rare disorder/difference of sex development (DSD) associated with absence in gonadal development that results in the presence of female appearing external and internal genitalia in presence of a 46,XY karyotype. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=242 |
|
| has_age_of_onset |
Adolescent Adult |
|
| has_inheritance |
Autosomal recessive X-linked recessive Autosomal dominant Y-linked |
|
| hasDbXref |
UMLS:C2936694 OMIM:613762 OMIM:613080 OMIM:233420 OMIM:154230 ICD-10:Q99.1 OMIM:300018 MedDRA:10084327 OMIM:400044 ICD-11:LD2A.1 OMIM:612965 OMIM:616425 |
|
| label |
46,XY complete gonadal dysgenesis |
|
| notation |
ORPHA:242 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_506213 |
|
| prefixIRI |
ORDO:Orphanet_242 |
|
| prefLabel |
46,XY complete gonadal dysgenesis |
|
| present_in |
Worldwide AND has_birth_prevalence_range : Unknown Worldwide AND has_point_prevalence_range : Unknown |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_506213 |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_242 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0010765 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0010765 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0010765 | DOVES | LOOM | |
| http://www.limics.org/hrdo/rdfns#pat_id_1044 | HRDO | LOOM | |
| http://www.gamuts.net/entity#chromosome_XY_gonadal_dysgenesis | GAMUTS | REST |