Vitreoretinopathy with phalangeal epiphyseal dysplasia

Preferred Label : Vitreoretinopathy with phalangeal epiphyseal dysplasia;

Symbol : VPED;

Type : Phenotype, molecular basis known;

Prefixed ID : #619248;

Details

Origin ID

619248;

UMLS CUI

C1852989;

Genes related to phenotype
- Collagen, type II, alpha-1 [OMIM gene]
HPO term(s)
- Abnormal epiphysis morphology of the phalanges of the hand [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Hip osteoarthritis [HPO term]
- Lattice retinal degeneration [HPO term]
- Rhegmatogenous retinal detachment [HPO term]
Not associated HPO term(s)
- Short stature [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- vitreoretinopathy with phalangeal epiphyseal dysplasia [MeSH concept]
- vitreoretinopathy with phalangeal epiphyseal dysplasia [MeSH Supplementary Concept]

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