Hypogonadism-cataract syndrome

Preferred Label : Hypogonadism-cataract syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Cataracts and testicular failure;

Inheritance : Autosomal recessive;

Prefixed ID : 240950;

Details

Origin ID

240950;

UMLS CUI

C1855859;

Currated CISMeF NLP mapping
- Hypergonadotropic hypogonadism-cataract syndrome [ORDO Disease]
- Lubinsky syndrome [MeSH concept]
- lubinsky syndrome [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Elevated circulating follicle stimulating hormone level [HPO term]
- Hypogonadism [HPO term]
- Infertility [HPO term]
- Male hypogonadism [HPO term]
ORDO concept(s)
- Hypergonadotropic hypogonadism-cataract syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypergonadotropic hypogonadism with cataract syndrome (disorder) [SNOMED CT concept]
- Hypergonadotropic hypogonadism-cataract syndrome [ORDO Disease]
- Lubinsky syndrome [MeSH concept]
- lubinsky syndrome [MeSH Supplementary Concept]

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