Exudative vitreoretinopathy 2, X-linked

Preferred Label : Exudative vitreoretinopathy 2, X-linked;

Symbol : EVR2;

CISMeF acronym : EVRX; EVR2; FEVRX;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Fevr, X-linked; Exudative vitreoretinopathy, familial, 2; EVRX; FEVRX;

Inheritance : X-linked recessive; X-linked dominant (1 family);

Molecular basis : Caused by mutation in the norrin gene (NDP, 300659.0006);

Prefixed ID : #305390;

Détails

Origin ID

305390;

UMLS CUI

C1844579;

Broader ORDO disease(s)
- Familial exudative vitreoretinopathy [ORDO Disease]
Currated CISMeF NLP mapping
- X-linked exudative vitreoretinopathy 2 [DO Concept]
- exudative vitreoretinopathy, familial, X-Linked recessive [MeSH Supplementary Concept]
- exudative vitreoretinopathy, familial, X-Linked recessive [MeSH concept]
DO Cross reference
- X-linked exudative vitreoretinopathy 2 [DO Concept]
Genes related to phenotype
- Norrin cystine knot growth factor ndp [OMIM gene]
HPO term(s)
- Congenital retinal folds [HPO term]
- Deeply set eye [HPO term]
- Enophthalmos [HPO term]
- Exudative vitreoretinopathy [HPO term]
- Falciform retinal fold [HPO term]
- Intraretinal exudate [HPO term]
- Microphthalmia [HPO term]
- Nystagmus [HPO term]
- Peripheral vitreous opacities [HPO term]
- Reduced visual acuity [HPO term]
- Retinal detachment [HPO term]
- Retinal hole [HPO term]
- Retinal neovascularization [HPO term]
- Retinal vascular tortuosity [HPO term]
- Subretinal exudate [HPO term]
- Usually autosomal dominant [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Familial exudative vitreoretinopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- exudative vitreoretinopathy, familial, X-Linked recessive [MeSH Supplementary Concept]
- exudative vitreoretinopathy, familial, X-Linked recessive [MeSH concept]
Validated automatic mappings to NTBT
- Familial exudative vitreoretinopathy [ORDO Disease]

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