loading...| Preferred Name |
46,XY partial gonadal dysgenesis |
|
| Synonyms |
46,XY partial testicular dysgenesis 46,XY PGD |
|
| Definitions |
46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0016674 |
|
| database_cross_reference |
Orphanet:251510 SCTID:725045004 UMLS:C4510744 GARD:17211 |
|
| definition |
46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype. |
|
| exactMatch |
http://purl.obolibrary.org/obo/Orphanet_251510 |
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| has_exact_synonym |
46,XY partial testicular dysgenesis 46,XY PGD |
|
| IAO_0000233 |
https://github.com/monarch-initiative/mondo/issues/6876 |
|
| id |
MONDO:0016674 |
|
| 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#ordo_disease |
|
| label |
46,XY partial gonadal dysgenesis |
|
| notation |
MONDO:0016674 |
|
| preferred label |
46,XY partial gonadal dysgenesis |
|
| prefLabel |
46,XY partial gonadal dysgenesis |
|
| subClassOf |