Disease #01507 (PPCRA (atrophy, chorioretinal, pigmented paravenous (PPCRA)), OMIM:172870)

Official abbreviation PPCRA
Name atrophy, chorioretinal, pigmented paravenous (PPCRA)
OMIM ID 172870
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 5
Phenotype entries for this disease 5
Associated with 1 gene CRB1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

5 entries on 1 page. Showing entries 1 - 5.
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00037924 - PubMed: Mckay 2005 4 generation family, 5 affected M no United Kingdom (Great Britain) British - - - - PPCRA Presence of bilaterally symmetrical chorioretinal atrophy, with accumulation of bone corpuscle pigmentation along the retinal veins CRB1 CRB1 1 5 Frans Cremers
00037925 - PubMed: Mckay 2005 4 generation family, 5 affected F no United Kingdom (Great Britain) British - - - - PPCRA Presence of bilaterally symmetrical chorioretinal atrophy, with accumulation of bone corpuscle pigmentation along the retinal veins CRB1 CRB1 1 5 Frans Cremers
00037926 - PubMed: Mckay 2005 4 generation family, 5 affected F no United Kingdom (Great Britain) British - - - - PPCRA Presence of bilaterally symmetrical chorioretinal atrophy, with accumulation of bone corpuscle pigmentation along the retinal veins CRB1 CRB1 1 5 Frans Cremers
00037927 - PubMed: Mckay 2005 4 generation family, 5 affected F no United Kingdom (Great Britain) British - - - - PPCRA Presence of bilaterally symmetrical chorioretinal atrophy, with accumulation of bone corpuscle pigmentation along the retinal veins CRB1 CRB1 1 5 Frans Cremers
00037928 - PubMed: Mckay 2005 4 generation family, 5 affected M no United Kingdom (Great Britain) British - - - - PPCRA Presence of bilaterally symmetrical chorioretinal atrophy, with accumulation of bone corpuscle pigmentation along the retinal veins CRB1 CRB1 1 5 Frans Cremers
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