Human Health Exposure Analysis Resource

Last uploaded: February 2, 2024
Jump to:
loading...
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

http://purl.obolibrary.org/obo/doid#NCIthesaurus
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
textual 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.
subClassOf

http://purl.obolibrary.org/obo/DOID_14447
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display