Preferred Name |
46,XY sex reversal |
|
Synonyms |
Swyer syndrome 46 XY gonadal dysgenesis Pure gonadal dysgenesis 46,XY |
|
Definitions |
A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo. The term 46,XY DSD has replaced the following terms Male pseudohermaphrodite, Undervirilization of an XY male, Undermasculinization of an XY male, Mixed gonadal dysgenesis, Partial gonadal dysgenesis. OMIM mapping confirmed by DO. [SN]. OMIM mapping confirmed by DO. [LS]. |
|
ID |
http://purl.obolibrary.org/obo/DOID_14448 |
|
comment |
The term 46,XY DSD has replaced the following terms Male pseudohermaphrodite, Undervirilization of an XY male, Undermasculinization of an XY male, Mixed gonadal dysgenesis, Partial gonadal dysgenesis. OMIM mapping confirmed by DO. [SN]. OMIM mapping confirmed by DO. [LS]. |
|
alternative label |
Swyer syndrome 46 XY gonadal dysgenesis Pure gonadal dysgenesis 46,XY |
|
database_cross_reference |
MESH:D006061 UMLS_CUI:C0018054 NCI:C120198 OMIM:607080 OMIM:PS400044 |
|
definition |
A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo. The term 46,XY DSD has replaced the following terms Male pseudohermaphrodite, Undervirilization of an XY male, Undermasculinization of an XY male, Mixed gonadal dysgenesis, Partial gonadal dysgenesis. OMIM mapping confirmed by DO. [SN]. OMIM mapping confirmed by DO. [LS]. |
|
has exact synonym |
Swyer syndrome 46 XY gonadal dysgenesis Pure gonadal dysgenesis 46,XY |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:14448 |
|
in_subset | ||
label |
46,XY sex reversal |
|
notation |
DOID:14448 |
|
note |
A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo. The term 46,XY DSD has replaced the following terms Male pseudohermaphrodite, Undervirilization of an XY male, Undermasculinization of an XY male, Mixed gonadal dysgenesis, Partial gonadal dysgenesis. OMIM mapping confirmed by DO. [SN]. OMIM mapping confirmed by DO. [LS]. |
|
preferred label |
46,XY sex reversal |
|
prefLabel |
46,XY sex reversal |
|
subClassOf |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.obolibrary.org/obo/DOID_14448 | CLO | SAME_URI | |
http://purl.obolibrary.org/obo/DOID_14448 | DOID | SAME_URI | |
http://purl.obolibrary.org/obo/DOID_14448 | DTO | SAME_URI | |
http://purl.obolibrary.org/obo/DOID_14448 | HHEAR | SAME_URI | |
http://purl.obolibrary.org/obo/DOID_14448 | MIDO | SAME_URI | |
http://purl.obolibrary.org/obo/DOID_14448 | FNS-H | SAME_URI | |
http://purl.obolibrary.org/obo/DOID_14448 | DDSS | SAME_URI | |
http://purl.obolibrary.org/obo/DOID_14448 | DOID | LOOM | |
http://purl.obolibrary.org/obo/DOID_14448 | DDSS | LOOM | |
http://purl.obolibrary.org/obo/DOID_14448 | HHEAR | LOOM | |
http://purl.obolibrary.org/obo/DOID_14448 | MIDO | LOOM | |
http://purl.obolibrary.org/obo/DOID_14448 | FNS-H | LOOM |