Disease #02256

Official abbreviation OTCD
Name ornithine carbamoyltransferase deficiency (OTCD)
OMIM ID 311250
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 381
Phenotype entries for this disease 382
Associated with 1 gene OTC
Associated tissues -
Disease features -
Remarks -


Individuals

381 entries on 4 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4     Next › Last »

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00113123 - - - F - - - - 0 - - 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 - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113133 - PubMed: Yamaguchi 2006 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113134 - PubMed: Tuchman 2002 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113135 - PubMed: Yamaguchi 2006 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113136 - PubMed: Tuchman 1997 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113137 - PubMed: Yamaguchi 2006 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113138 - PubMed: Oppliger Leibundgut 1997 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113139 - PubMed: Yamaguchi 2006 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113140 - PubMed: Yamaguchi 2006 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113141 - PubMed: Climent and Rubio 2002 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113142 - PubMed: Kim 2006 - M - Korea - - 0 - - OTCD onset 2d OTC OTC 1 1 Bert Bakker
00113143 - PubMed: Yamaguchi 2006 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113144 - PubMed: Yamaguchi 2006 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113146 - Hwu 2003 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113149 - PubMed: Tuchman 2002 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113150 - Grompe 1991 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113151 - Grompe 1989 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113152 - PubMed: Kim 2006 - M - Korea - - 0 - - OTCD onset 5d OTC OTC 1 1 Bert Bakker
00113153 - PubMed: Yamaguchi 2006 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113154 - PubMed: Kim 2006 - M - Korea - - 0 - - OTCD onset 1month OTC OTC 1 1 Bert Bakker
00113155 - PubMed: Yamaguchi 2006 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113156 - PubMed: Tuchman 1997 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113157 - PubMed: Yamaguchi 2006 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113158 - PubMed: Tuchman 2002 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113159 - Hoshide 1996 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113160 - PubMed: Tuchman 1997 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113161 - PubMed: Engel 2008 mother carrier M - Germany - - 0 - - OTCD died on 4d OTC OTC 1 1 Johan den Dunnen
00113162 - Bisanzi 2002 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113163 - PubMed: Yamaguchi 2006 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113164 - PubMed: Yamaguchi 2006 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113165 - PubMed: Oppliger Leibundgut 1997 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113166 - PubMed: Genet 2000 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113167 - Calvas 1998 - - - - - - 0 - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113168 - Oppliger Leibundgut 1995 - - - - - - 0 - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113169 - PubMed: Tuchman 1994b - - - - - - 0 - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113170 - PubMed: Yamaguchi 2006 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113171 - PubMed: Oppliger Leibundgut 1997 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113172 - PubMed: Yoo 1996; PubMed: Kim 2006 - F - Korea - - 0 - - OTCD onset 2m OTC OTC 1 1 Bert Bakker
00113173 - PubMed: Tuchman 1998 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113174 - Grompe 1989 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113177 - PubMed: Yamaguchi 2006 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113182 - PubMed: Engel 2008 - F - Germany - - 0 - - OTCD well after liver transplant; OTC 0.4 OTC OTC 15 1 Johan den Dunnen
00113185 - PubMed: Yamaguchi 2006 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113186 - PubMed: Tuchman 1997 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113187 - Calvas 1998 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113188 - PubMed: Shimadzu 1998 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113189 - PubMed: Genet 2000 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113190 - PubMed: Yamaguchi 2006 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113191 - PubMed: Tuchman 1997 - - - - - - 0 - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113192 - Feldmann 1992 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113193 - PubMed: McCullough 2000 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113194 - PubMed: McCullough 2000 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113195 - PubMed: Yamaguchi 2006 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113196 - PubMed: McCullough 2000 - - - - - - 0 - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113197 - PubMed: Yamaguchi 2006 - - - - - - 0 - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113198 - PubMed: Tuchman 2002 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113199 - Nishiyori 1998 - - - - - - 0 - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113200 - PubMed: Tuchman 1997 - - - - - - 0 - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113201 - PubMed: Yamaguchi 2006 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113202 - PubMed: Yamaguchi 2006 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113203 - PubMed: Tuchman 1997 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113204 - PubMed: Oppliger Leibundgut 1997 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113205 - PubMed: Yamaguchi 2006 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113206 - Climent 1999 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113207 - Oppliger Leibundgut 1996a - - - - - - 0 - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113208 - Azevedo 2002 - - - - - - 0 - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113210 - PubMed: Tuchman 1992 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113211 - PubMed: Tuchman 1998 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113212 - PubMed: Genet 2000 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113213 - PubMed: McCullough 2000 - - - - - - 0 - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113214 - PubMed: Yamaguchi 2006 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113216 - PubMed: Tuchman 1992 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113217 - Schulz and Salo 2000 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113218 - Galloway 2000 - - - - - - 0 - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113219 - PubMed: Tuchman and Plante 1995 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113220 - PubMed: Tuchman 2002 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113221 - PubMed: Tuchman 1997 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113222 - Bartholomew and McClellan1998 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113223 - Feldmann 1992 - - - - - - 0 - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113224 - Reish 1993 - - - - - - 0 - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113225 - Takanashi 2002 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113226 - PubMed: McCullough 2000 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113227 - PubMed: Tuchman 1998 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113228 - PubMed: Genet 2000 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113229 - PubMed: Yamaguchi 2006 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113230 - Grompe 1991 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113231 - PubMed: Kim 2006 - M - Korea - - 0 - - OTCD onset 6d OTC OTC 1 1 Bert Bakker
00113232 - Grompe 1991 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113233 - PubMed: Yamaguchi 2006 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113234 - PubMed: Yamaguchi 2006 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113235 - PubMed: Tuchman and Plante 1995 - - - - - - 0 - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113236 - PubMed: Tuchman 1992 - - - - - - 0 - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113237 - PubMed: McCullough 2000 - - - - - - 0 - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113238 - Bisanzi 2002 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113239 - PubMed: Kim 2006 - M - Korea - - 0 - - OTCD onset 10m OTC OTC 1 1 Bert Bakker
00113240 - Garcia_Perez 1995 - - - - - - 0 - - OTCD neonatal OTC OTC 1 1 Bert Bakker
00113241 - PubMed: Yamaguchi 2006 - - - - - - 0 - - OTCD late onset OTC OTC 1 1 Bert Bakker
00113242 - PubMed: Tuchman 1997 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
00113243 - PubMed: Yamaguchi 2006 - F - - - - 0 - - OTCD - OTC OTC 1 1 Bert Bakker
Legend   « First ‹ Prev     1 2 3 4     Next › Last »