ORPHA:325055

46,XX disorder of gonadal development

Type: Category
Group: Group of disorders
Status: active

This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	46,XX disorder of gonadal development
fr	Anomalie du développement des gonades 46,XX
de	46,XX Störung der Gonadenentwicklung
es	Anomalía del desarrollo gonadal 46,XX	Trastorno del desarrollo gonadal 46,XX
it	Disturbo dello sviluppo gonadico 46,XX
nl	46,XX stoornis van gonadale ontwikkeling
pt	Alteração 46, XX do desenvolvimento gonadal
pl	Zaburzenie rozwoju gonad z kariotypem 46,XX
cs	46,XX porucha pohlavního vývoje
uk	46,XX порушення розвитку гонад
zh	46，XX性腺发育不全
tr	46, XX gonadal gelişim bozukluğu

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
MONDO	17961	E		validated
UMLS	C5680950	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93890Rare developmental defect during embryogenesis

Parents in the classifications (2):

ORPHA:298246,XX difference of sex development
rare developmental anomalies during embryogenesis; rare urogenital diseases; rare endocrine diseases
ORPHA:325697Genetic 46,XX difference of sex development
rare genetic diseases

Children (4):

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/325055
This record as JSON: /data/d/325055.json