Exudative vitreoretinopathy 4

Preferred Label : Exudative vitreoretinopathy 4;

Symbol : EVR4;

CISMeF acronym : EVR4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the low density lipoprotein receptor-related protein-5 gene (LRP5, 603506.0020);

Prefixed ID : #601813;

Détails

Origin ID

601813;

UMLS CUI

C1866176;

Broader ORDO disease(s)
- Familial exudative vitreoretinopathy [ORDO Disease]
Currated CISMeF NLP mapping
- exudative vitreoretinopathy 4 [DO Concept]
- exudative vitreoretinopathy 4 [MeSH concept]
- exudative vitreoretinopathy 4 [MeSH Supplementary Concept]
DO Cross reference
- exudative vitreoretinopathy 4 [DO Concept]
Genes related to phenotype
- Low density lipoprotein receptor-related protein 5 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Exudative vitreoretinopathy [HPO term]
- Falciform retinal fold [HPO term]
- Horizontal pendular nystagmus [HPO term]
- Infantile onset [HPO term]
- Osteopenia [HPO term]
- Peripheral retinal avascularization [HPO term]
- Posterior vitreous detachment [HPO term]
- Reduced visual acuity [HPO term]
- Retinal exudate [HPO term]
- Subcapsular cataract [HPO term]
- Tractional retinal detachment [HPO term]
- Vitreous hemorrhage [HPO term]
ORDO concept(s)
- Familial exudative vitreoretinopathy [ORDO Disease]
See also inter- (CISMeF)
- LDL receptor related protein 5 [ORDO Gene]
- LDL receptor related protein 5 [HGNC gene]
- LRP5 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- exudative vitreoretinopathy 4 [MeSH Supplementary Concept]
- exudative vitreoretinopathy 4 [MeSH concept]
Validated automatic mappings to NTBT
- Familial exudative vitreoretinopathy [ORDO Disease]

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