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Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/C537286
http://purl.bioontology.org/ontology/MESH/C537286
|
|---|---|
| Preferred Name | Gonadal dysgenesis XX type deafness |
| Synonyms |
Peroxisomal bifunctional enzyme complex deficiency
Perrault syndrome
17-beta-hydroxysteroid dehydrogenase 4, deficiency of
Ovarian dysgenesis with sensorineural deafness
Peroxisomal bifunctional enzyme deficiency
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Peroxisomal bifunctional enzyme complex deficiency
Perrault syndrome
17-beta-hydroxysteroid dehydrogenase 4, deficiency of
Ovarian dysgenesis with sensorineural deafness
Peroxisomal bifunctional enzyme deficiency
|
|---|---|
| prefLabel | Gonadal dysgenesis XX type deafness
|
| Scope Statement | A sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic symptoms, such as mild intellectual disability and cerebellar and peripheral nervous system involvement. It is caused by mutations in the PEROXISOMAL MULTIFUNCTIONAL PROTEIN-2 (HSD17B4) gene. OMIM: 233400
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| type | |
| tui | T047
|
| HM |
D023961
D006319
|
| SC | 3
|
| TERMUI |
T740049
T742076
T740050
T756371
T742075
T742074
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|
| TH |
NLM (2010)
ORD (2010)
|
| MMR | 20160929
|
| notation | C537286
|
| Semantic type UMLS property | |
| cui |
C0685838
C0342870
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| MeSH Frequency | 43
|
| DSC | 20100825
|
| Inverse of RB | 0
|
| Mapped to | |
| MDA | 20100825
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| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |