Myopia 23, autosomal recessive

Preferred Label : Myopia 23, autosomal recessive;

Symbol : MYP23;

CISMeF acronym : MYP23;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the low density lipoprotein receptor-related protein associated protein 1 gene (LRPAP1, 104225.0001);

Prefixed ID : #615431;

Details

Origin ID

615431;

UMLS CUI

C3809482;

DO Cross reference
- myopia [DO Concept]
Genes related to phenotype
- Low density lipoprotein receptor-related protein-associated protein 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- High myopia [HPO term]
- Increased axial length of the globe [HPO term]
- Reduced visual acuity [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Rare isolated myopia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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