Disease #01985

Official abbreviation GACR;OATD
Name atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))
OMIM ID 258870
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 88
Phenotype entries for this disease 88
Associated with 1 gene OAT
Associated tissues -
Disease features -
Remarks -


Individuals

88 entries on 1 page. Showing entries 1 - 88.
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00059779 - PubMed: Doimo 2012 1 familie, 2 patients - - Italy Southern Italy - 0 - - GACR;OATD - OAT OAT 2 1 Eva Trevisson
00059780 - - - - - - Turkey - 0 - - GACR;OATD - OAT OAT 1 1 Eva Trevisson
00059781 - - - - - Italy Southern Italy - 0 - - GACR;OATD - OAT OAT 1 1 Eva Trevisson
00059782 - - - - - Italy Southern Italy - 0 - - GACR;OATD - OAT OAT 1 1 Eva Trevisson
00059783 - - 1 familie, 2 patients - - Italy Southern Italy - 0 - - GACR;OATD - OAT OAT 1 1 Eva Trevisson
00059784 - - - - - United Kingdom (Great Britain) England - 0 - - GACR;OATD - OAT OAT 1 1 Eva Trevisson
00059785 - - - - - - - - 0 - - GACR;OATD - OAT OAT 1 1 Eva Trevisson
00059786 - - - - - Finland Finnish - 0 - - GACR;OATD - OAT OAT 1 1 Eva Trevisson
00059798 - PubMed: Mitchell 1989 14 Finnish families - - Finland Finnish - 0 - - GACR;OATD - OAT OAT 1 14 Anne Polvi
00059799 - PubMed: Mitchell 1989 Families: Fin 6 and Fin 14 - - Finland Finnish - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059800 - PubMed: Mitchell 1989 - - - United States American - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059801 - PubMed: Ohkubo 2005 1 familie, 1 patient - - Japan Japanese - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059802 - PubMed: Mashima 1992 - - - Japan Japanese - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059803 - PubMed: Brody 1992 1 familie, 1 patient - - - Iraqi Jew - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059804 - PubMed: Brody 1992 1 familie, 1 patient - - - Lebanese Maronite - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059805 - PubMed: Brody 1992 1 familie, 1 patient - - Finland Finnish - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059806 - PubMed: Brody 1992 1 familie, 1 patient - - - Finnish/American - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059807 - PubMed: Brody 1992 1 familie, 1 patient - - - West African - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059808 - PubMed: Brody 1992 1 familie, 1 patient - - India East Indian - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059809 - PubMed: Brody 1992 1 familie, 1 patient - - - German/American - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059810 - PubMed: Brody 1992 1 familie, 1 patient - - - English/German - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059811 - PubMed: Brody 1992 1 familie, 1 patient - - France French - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059812 - PubMed: Brody 1992 1 familie, 1 patient - - Portugal Portugese - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059813 - PubMed: Brody 1992 1 familie, 1 patient - - Japan Japanese - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059814 - PubMed: Brody 1992 1 familie, 1 patient - - Turkey Turkish (Shephardic) - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059815 - PubMed: Ramesh 1988, PubMed: Doimo 2012 - - - - - - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059816 - PubMed: Ramesh 1988 - - - - - - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059817 - PubMed: Kobayashi et al.1995 1 familie, 1 patient - - Japan Japanese - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059818 - PubMed: Mashima 1996 - - - Japan Japanese - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059819 - PubMed: Mashima 1996 - - - Japan Japanese - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059820 - PubMed: Mashima 1996 - - - Japan Japanese - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059821 - PubMed: Mashima 1996 - - - Japan Japanese - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059822 - PubMed: Mashima 1996 - - - Japan Japanese - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059823 - PubMed: Park 1992 - - - Mexico Mexican - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059824 - PubMed: Mitchell 1991 - - - Algeria Algerian - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059825 - PubMed: Doimo 2012 - - - Italy Southern Italian - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059826 - PubMed: Doimo 2012 - - - Italy Southern Italian - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059827 - PubMed: Doimo 2012 - - - Turkey - - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059828 - PubMed: Doimo 2012 - - - Italy Southern Italian - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059829 - PubMed: Doimo 2012 - - - Italy Southern Italian - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059830 - PubMed: Doimo 2012 - - - United Kingdom (Great Britain) English - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059831 - PubMed: Michaud 1995 - - - Italy Italian - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059832 - PubMed: Dietz 1993 - - - - - - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059833 - PubMed: Sergouniotis 2012 - - - United Kingdom (Great Britain) English - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00059834 - PubMed: Sergouniotis 2012 - - - United Kingdom (Great Britain) - - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00060097 - - - - - Greece Greece - 0 - - GACR;OATD - OAT OAT 2 1 Eva Trevisson
00060098 - - - - - United Kingdom (Great Britain) England - 0 - - GACR;OATD - OAT OAT 3 1 Eva Trevisson
00060099 - - - - - United Kingdom (Great Britain) England - 0 - - GACR;OATD - OAT OAT 1 1 Eva Trevisson
00060100 - - - - - - (not applicable) Caucasian - 0 - - GACR;OATD - OAT OAT 2 1 Eva Trevisson
00060118 - PubMed: Park 1992 1 familie, 1 patient - - - - - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00060119 - PubMed: Mashima 1992 - - - Canada Canadian - 0 - - GACR;OATD - OAT OAT 2 1 Anne Polvi
00060120 - PubMed: Mashima 1992 - - - - European - 0 - - GACR;OATD - OAT OAT 2 1 Anne Polvi
00060121 - PubMed: Mashima 1992 - - - - English/German - 0 - - GACR;OATD - OAT OAT 2 1 Anne Polvi
00060122 - PubMed: Mashima 1992 - - - - European - 0 - - GACR;OATD - OAT OAT 2 1 Anne Polvi
00060123 - PubMed: Michaud 1992 1 familie, 1 patient - - - - - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00060124 - PubMed: Michaud 1992 1 familie, 1 patient - - - - - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00060125 - PubMed: Akaki 1992 1 familie, 1 patient - - - European - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00060126 - PubMed: Brody 1992 1 familie, 1 patient - - United Kingdom (Great Britain) English - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00060127 - PubMed: Brody 1992 1 familie, 1 patient - - - - - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00060128 - PubMed: Brody 1992 1 familie, 1 patient - - United Kingdom (Great Britain) English - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00060129 - PubMed: Brody 1992 1 familie, 1 patient - - Spain Spanish - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00060130 - PubMed: Brody 1992 1 familie, 1 patient - - - - - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00060131 - PubMed: Brody 1992 1 familie, 1 patient - - Finland Finnish - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00060132 - PubMed: Brody 1992 1 familie, 1 patient - - - German/Italian - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00060133 - PubMed: Brody 1992 1 familie, 1 patient - - - Welsh - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00060134 - PubMed: Brody 1992 1 familie, 1 patient - - Portugal Portugese - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00060135 - PubMed: Brody 1992 1 familie, 1 patient - - - German/Italian - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00060136 - PubMed: Brody 1992 1 familie, 1 patient - - United Kingdom (Great Britain) English - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00060137 - PubMed: Brody 1992 1 familie, 1 patient - - - Ashkenazi Jew - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00060138 - PubMed: Brody 1992 1 familie, 1 patient - - - Hispanic (Nicaraguan) - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00060139 - PubMed: Mashima 1996 - - - Japan Japanese - 0 - - GACR;OATD - OAT OAT 2 1 Anne Polvi
00060140 - PubMed: Mashima 1996 - - - Japan Japanese - 0 - - GACR;OATD - OAT OAT 2 1 Anne Polvi
00060141 - PubMed: Park 1992 - - - - - - 0 - - GACR;OATD - OAT OAT 2 1 Anne Polvi
00060142 - PubMed: Mashima 1992 1 familie, 2 patients (Two sisters) - - - - - 0 - - GACR;OATD - OAT OAT 2 2 Anne Polvi
00060143 - PubMed: McClatchey 1990 - - - - Danish/Swedish - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00060144 - PubMed: Renner et al.2012 - - - Germany German - 0 - - GACR;OATD - OAT OAT 2 1 Anne Polvi
00060145 - PubMed: Doimo 2012 - - - Italy Southern Italian - 0 - - GACR;OATD - OAT OAT 2 1 Anne Polvi
00060146 - PubMed: Doimo 2012 - - - Italy Southern Italian - 0 - - GACR;OATD - OAT OAT 2 1 Anne Polvi
00060147 - PubMed: Doimo 2012 - - - Greece - - 0 - - GACR;OATD - OAT OAT 2 1 Anne Polvi
00060148 - PubMed: Doimo 2012 - - - United Kingdom (Great Britain) English - 0 - - GACR;OATD - OAT OAT 3 1 Anne Polvi
00060149 - PubMed: Michaud 1995 - - - Australia Australian - 0 - - GACR;OATD - OAT OAT 2 1 Anne Polvi
00060150 - PubMed: Dietz 1993 - - - - - - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00060151 - PubMed: Sergouniotis 2012 - - - United Kingdom (Great Britain) English - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
00060152 - PubMed: Sergouniotis 2012 - - - United Kingdom (Great Britain) English - 0 - - GACR;OATD - OAT OAT 2 1 Anne Polvi
00060153 - PubMed: Sergouniotis 2012 - - - United Kingdom (Great Britain) English - 0 - - GACR;OATD - OAT OAT 2 1 Anne Polvi
00060154 - PubMed: Sergouniotis 2012 - - - United Kingdom (Great Britain) English - 0 - - GACR;OATD - OAT OAT 2 1 Anne Polvi
00060155 - PubMed: Sergouniotis 2012 - - - United Kingdom (Great Britain) English - 0 - - GACR;OATD - OAT OAT 2 1 Anne Polvi
00060156 - PubMed: Inana 1989 1 familie, 1 patient - - Japan Japanese - 0 - - GACR;OATD - OAT OAT 1 1 Anne Polvi
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