vitreoretinopathy with phalangeal epiphyseal dysplasia
MONDO:0031001Mondo
Findings
No curated finding names vitreoretinopathy with phalangeal epiphyseal dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Short statureHPOHP:0004322
- 0 of 2 reported patients
- Abnormal epiphysis morphology of the phalanges of the handHPOHP:0005920
- BrachydactylyHPOHP:0001156
- Hip osteoarthritisHPOHP:0008843
- Lattice retinal degenerationHPOHP:0007992
- Rhegmatogenous retinal detachmentHPOHP:0012230
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- COL2A1HGNC:2200
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: vitreoretinopathy with phalangeal epiphyseal dysplasia
- Also called
- VPED