Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
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Preferred Name

46,XY partial gonadal dysgenesis
Synonyms

46,XY partial testicular dysgenesis

46,XY PGD
Definitions

A rare disorder/difference of sex development (DSD) characterized by atypical gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a 46,XY karyotype.
ID

http://www.orpha.net/ORDO/Orphanet_251510
alternative_term

46,XY partial testicular dysgenesis

46,XY PGD
definition

A rare disorder/difference of sex development (DSD) characterized by atypical gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a 46,XY karyotype.
definition_citation

Orphanet
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=251510
has_age_of_onset

Infancy

Neonatal
has_inheritance

Autosomal recessive

X-linked recessive

Autosomal dominant

Y-linked
hasDbXref

OMIM:613762

OMIM:154230

OMIM:300018

ICD-11:LD2A.1

ICD-10:Q56.1

OMIM:616067

UMLS:C4510744

OMIM:612965

OMIM:615542

OMIM:616425
label

46,XY partial gonadal dysgenesis
notation

ORPHA:251510
part_of

http://www.orpha.net/ORDO/Orphanet_506213

http://www.orpha.net/ORDO/Orphanet_325118

http://www.orpha.net/ORDO/Orphanet_98313

http://www.orpha.net/ORDO/Orphanet_399877

http://www.orpha.net/ORDO/Orphanet_98074
prefixIRI

ORDO:Orphanet_251510
prefLabel

46,XY partial gonadal dysgenesis
present_in

Worldwide AND has_point_prevalence_range : Unknown
treeView

http://www.orpha.net/ORDO/Orphanet_506213

http://www.orpha.net/ORDO/Orphanet_325118

http://www.orpha.net/ORDO/Orphanet_98313

http://www.orpha.net/ORDO/Orphanet_399877

http://www.orpha.net/ORDO/Orphanet_98074
subClassOf

http://www.orpha.net/ORDO/Orphanet_377789

http://www.orpha.net/ORDO/Orphanet_557493
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