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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
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| Preferred Name | Gonadal Dysgenesis, 46,XY [Disease/Finding] | |
| Synonyms |
Gonadal Dysgenesis, 46,XY 46, XY Gonadal Sex Reversal Gonadal Dysgenesis, 46, XY 46, XY Gonadal Dysgenesis Sex Reversal, Gonadal, 46, XY |
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| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000001379 |
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| altLabel |
Gonadal Dysgenesis, 46,XY 46, XY Gonadal Sex Reversal Gonadal Dysgenesis, 46, XY 46, XY Gonadal Dysgenesis Sex Reversal, Gonadal, 46, XY
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| cui |
C0018054
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| MESH DEFINITION |
Defects in the SEX DETERMINATION PROCESS in 46, XY individuals that result in abnormal gonadal development and deficiencies in TESTOSTERONE and subsequently ANTIMULLERIAN HORMONE or other factors required for normal male sex development. This leads to the development of female phenotypes (male to female sex reversal), normal to tall stature, and bilateral streak or dysgenic gonads which are susceptible to GONADAL TISSUE NEOPLASMS. An XY gonadal dysgenesis is associated with structural abnormalities on the Y CHROMOSOME, a mutation in the GENE, SRY, or a mutation in other autosomal genes that are involved in sex determination.
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| MESH DUI |
D006061
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| MeSH name |
Gonadal Dysgenesis, 46,XY
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| MESH UI |
M0009539
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| NDFRT kind |
DISEASE_KIND
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| notation |
N0000001379
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| NUI |
N0000001379
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| prefLabel |
Gonadal Dysgenesis, 46,XY [Disease/Finding]
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| SNOMED CID |
95218005
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| tui |
T047
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| subClassOf |
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| Mapping To | Ontology | Source |
|---|---|---|
| http://purl.bioontology.org/ontology/MSHFRE/D006061 | MSHFRE | CUI |
| http://purl.bioontology.org/ontology/MESH/D006061 | MESH | CUI |
| http://purl.bioontology.org/ontology/OMIM/MTHU073467 | OMIM | CUI |