Disease #03306

Official abbreviation EVR-5
Name vitreoretinopathy, exudative, type 5 (EVR-5)
OMIM ID 613310
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 4
Phenotype entries for this disease 0
Associated with 1 gene TSPAN12
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Disease features -
Remarks -


Individuals

4 entries on 1 page. Showing entries 1 - 4.
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00265356 Family 1 III:1 PubMed: Kondo 2011 3 generation family, 5 affected F no Japan - - 0 - - EVR-5, EVR;FEVR familial exudative vitreoretinopathy (HP: 0030490) TSPAN12 TSPAN12 1 5 Jasmine Chen
00265370 Family1PatII1 PubMed: Kondo 2011 PatII1 F no Japan - - 0 - - EVR-5, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490) TSPAN12 TSPAN12 1 1 Jasmine Chen
00265371 Family1PatIII2 PubMed: Kondo 2011 PatIII2 M no Japan - - 0 - - EVR-5, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490) TSPAN12 TSPAN12 1 1 Jasmine Chen
00265372 Family3PatII1 PubMed: Kondo 2011 2 generation family, 1 affected, isolated M no Japan - - 0 - vitrectomy EVR-5, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), aphakia (HP:0007707), RE phthisis (HP:0000667) TSPAN12 TSPAN12 1 1 Jasmine Chen
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