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Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/D023961
http://purl.bioontology.org/ontology/MESH/D023961
|
|---|---|
| Preferred Name | Gonadal Dysgenesis, 46,XX |
| Definitions |
The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration.
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| Synonyms |
Pure Gonadal Dysgenesis, 46, XX
Gonadal Dysgenesis, 46, XX
Gonadal Dysgenesis, XX Type
Pure Gonadal Dysgenesis, 46,XX
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration. |
|---|---|
| altLabel |
Pure Gonadal Dysgenesis, 46, XX
Gonadal Dysgenesis, 46, XX
Gonadal Dysgenesis, XX Type
Pure Gonadal Dysgenesis, 46,XX
|
| prefLabel | Gonadal Dysgenesis, 46,XX
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| Machine permutation | 2002
|
| HN | 2002
|
| Mapped from | |
| type | |
| tui | T019
|
| TERMUI |
T765848
T423027
T765138
T765847
T765153
|
| TH |
OMIM (2013)
NLM (2002)
NLM (2011)
ORD (2010)
|
| MMR | 20210630
|
| notation | D023961
|
| Semantic type UMLS property | |
| Inverse of AQ |
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|
| DX | 20020101
|
| cui |
C0949595
C0685837
|
| DC | 1
|
| MN |
C19.391.119.064.249
C12.800.316.064.249
C12.050.351.875.253.309.193
C16.131.939.316.064.249
C12.050.351.875.253.064.249
C12.200.706.316.064.249
C12.200.706.316.309.193
C19.391.119.309.193
C12.800.316.309.193
C16.131.939.316.309.193
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| AQL | BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
|
| MDA | 20000831
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| subClassOf |
| Delete | Subject | Author | Type | Created |
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