Deafness, cataract, retinitis pigmentosa, and sperm abnormalities

Preferred Label : Deafness, cataract, retinitis pigmentosa, and sperm abnormalities;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : X-linked recessive;

Prefixed ID : %300719;

Details

Origin ID

300719;

UMLS CUI

C2678011;

Currated CISMeF NLP mapping
- deafness, cataract, retinitis pigmentosa, and sperm abnormalities [MeSH concept]
- deafness, cataract, retinitis pigmentosa, and sperm abnormalities [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of skin pigmentation [HPO term]
- Cataract [HPO term]
- Deafness [HPO term]
- Hearing impairment [HPO term]
- Infertility [HPO term]
- Rod-cone dystrophy [HPO term]
- X-linked recessive inheritance [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- deafness, cataract, retinitis pigmentosa, and sperm abnormalities [MeSH Supplementary Concept]
- deafness, cataract, retinitis pigmentosa, and sperm abnormalities [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients