Disease #02256 (OTCD (deficiency, ornithine carbamoyltransferase (OTCD)), OMIM:311250)

Official abbreviation OTCD
Name deficiency, ornithine carbamoyltransferase (OTCD)
OMIM ID 311250
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 387
Phenotype entries for this disease 388
Associated with 1 gene OTC
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

387 entries on 4 pages. Showing entries 1 - 100.
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AscendingIndividual ID     
ID_report     
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Genes screened
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00113123 - - - F - - - - - - - OTCD clinical symptoms compatible with OTCD, positive allopurinol test, normal plasma amino-acid profile OTC OTC 1 1 Lenka Dvořáková
00113132 - PubMed: Suess 1992 - M - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113133 - PubMed: Yamaguchi 2006 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113134 - PubMed: Tuchman 2002 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113135 - PubMed: Yamaguchi 2006 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113136 - PubMed: Tuchman 1997 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113137 - PubMed: Yamaguchi 2006 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113138 - PubMed: Oppliger Leibundgut 1997 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113139 - PubMed: Yamaguchi 2006 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113140 - PubMed: Yamaguchi 2006 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113141 - PubMed: Climent and Rubio 2002 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113142 - PubMed: Kim 2006 - M - Korea - - - - - OTCD onset 2d OTC OTC 1 1 Bert Bakker
00113143 - PubMed: Yamaguchi 2006 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113144 - PubMed: Yamaguchi 2006 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113146 - Hwu 2003 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113149 - PubMed: Tuchman 2002 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113150 - Grompe 1991 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113151 - Grompe 1989 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113152 - PubMed: Kim 2006 - M - Korea - - - - - OTCD onset 5d OTC OTC 1 1 Bert Bakker
00113153 - PubMed: Yamaguchi 2006 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113154 - PubMed: Kim 2006 - M - Korea - - - - - OTCD onset 1month OTC OTC 1 1 Bert Bakker
00113155 - PubMed: Yamaguchi 2006 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113156 - PubMed: Tuchman 1997 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113157 - PubMed: Yamaguchi 2006 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113158 - PubMed: Tuchman 2002 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113159 - Hoshide 1996 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113160 - PubMed: Tuchman 1997 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113161 - PubMed: Engel 2008 mother carrier M - Germany - - - - - OTCD died on 4d OTC OTC 1 1 Johan den Dunnen
00113162 - Bisanzi 2002 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113163 - PubMed: Yamaguchi 2006 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113164 - PubMed: Yamaguchi 2006 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113165 - PubMed: Oppliger Leibundgut 1997 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113166 - PubMed: Genet 2000 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113167 - Calvas 1998 - - - - - - - - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113168 - Oppliger Leibundgut 1995 - - - - - - - - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113169 - PubMed: Tuchman 1994b - - - - - - - - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113170 - PubMed: Yamaguchi 2006 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113171 - PubMed: Oppliger Leibundgut 1997 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113172 - PubMed: Yoo 1996; PubMed: Kim 2006 - F - Korea - - - - - OTCD onset 2m OTC OTC 1 1 Bert Bakker
00113173 - PubMed: Tuchman 1998 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113174 - Grompe 1989 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113177 - PubMed: Yamaguchi 2006 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113182 - PubMed: Engel 2008 - F - Germany - - - - - OTCD well after liver transplant; OTC 0.4 OTC OTC 15 1 Johan den Dunnen
00113185 - PubMed: Yamaguchi 2006 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113186 - PubMed: Tuchman 1997 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113187 - Calvas 1998 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113188 - PubMed: Shimadzu 1998 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113189 - PubMed: Genet 2000 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113190 - PubMed: Yamaguchi 2006 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113191 - PubMed: Tuchman 1997 - - - - - - - - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113192 - Feldmann 1992 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113193 - PubMed: McCullough 2000 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113194 - PubMed: McCullough 2000 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113195 - PubMed: Yamaguchi 2006 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113196 - PubMed: McCullough 2000 - - - - - - - - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113197 - PubMed: Yamaguchi 2006 - - - - - - - - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113198 - PubMed: Tuchman 2002 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113199 - Nishiyori 1998 - - - - - - - - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113200 - PubMed: Tuchman 1997 - - - - - - - - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113201 - PubMed: Yamaguchi 2006 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113202 - PubMed: Yamaguchi 2006 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113203 - PubMed: Tuchman 1997 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113204 - PubMed: Oppliger Leibundgut 1997 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113205 - PubMed: Yamaguchi 2006 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113207 - Oppliger Leibundgut 1996a - - - - - - - - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113208 - Azevedo 2002 - - - - - - - - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113210 - PubMed: Tuchman 1992 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113211 - PubMed: Tuchman 1998 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113212 - PubMed: Genet 2000 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113213 - PubMed: McCullough 2000 - - - - - - - - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113214 - PubMed: Yamaguchi 2006 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113216 - PubMed: Tuchman 1992 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113217 - Schulz and Salo 2000 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113218 - Galloway 2000 - - - - - - - - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113219 - PubMed: Tuchman and Plante 1995 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113220 - PubMed: Tuchman 2002 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113221 - PubMed: Tuchman 1997 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113222 - Bartholomew and McClellan1998 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113223 - Feldmann 1992 - - - - - - - - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113224 - Reish 1993 - - - - - - - - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113225 - Takanashi 2002 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113226 - PubMed: McCullough 2000 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113227 - PubMed: Tuchman 1998 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113228 - PubMed: Genet 2000 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113229 - PubMed: Yamaguchi 2006 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113230 - Grompe 1991 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113231 - PubMed: Kim 2006 - M - Korea - - - - - OTCD onset 6d OTC OTC 1 1 Bert Bakker
00113232 - Grompe 1991 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113233 - PubMed: Yamaguchi 2006 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113234 - PubMed: Yamaguchi 2006 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113235 - PubMed: Tuchman and Plante 1995 - - - - - - - - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113236 - PubMed: Tuchman 1992 - - - - - - - - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113237 - PubMed: McCullough 2000 - - - - - - - - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113238 - Bisanzi 2002 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113239 - PubMed: Kim 2006 - M - Korea - - - - - OTCD onset 10m OTC OTC 1 1 Bert Bakker
00113240 - Garcia_Perez 1995 - - - - - - - - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113241 - PubMed: Yamaguchi 2006 - - - - - - - - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113242 - PubMed: Tuchman 1997 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113243 - PubMed: Yamaguchi 2006 - F - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
00113248 - Matsuura 1993 - - - - - - - - - OTCD - OTC OTC 1 1 Bert Bakker
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