| commit b116a922e5dbc6d1e710e6df2ff6dd8b181e3236
|
| Author: davidlagorce <david.lagorce@inserm.fr>
|
| Date: Mon Feb 1 13:09:28 2021 +0100
|
|
|
| FEB 2021
|
|
|
| diff --git for en_product6.xml between January 2021 and February 2021
|
| old mode 100644
|
| new mode 100755
|
| index 2838df6..ef1fd89
|
| a/Genes | b/Genes |
|---|
| ⋮ | ⋮ |
| 1 | <?xml·version="1.0"·encoding="ISO-8859-1"?> | 1 | <?xml·version="1.0"·encoding="ISO-8859-1"?> |
| 2 | <JDBOR·date="2021-01-01·04:39:55"·version="1.3.7·/·4.1.7·[2020-12-03]·(orientdb·version)"·copyright="Orphanet·(c)·2021"·dbserver="jdbc:sybase:Tds:canard.orpha.net:2020"> | 2 | <JDBOR·date="2021-02-01·04:40:33"·version="1.3.7·/·4.1.7·[2020-12-03]·(orientdb·version)"·copyright="Orphanet·(c)·2021"·dbserver="jdbc:sybase:Tds:canard.orpha.net:2020"> |
| 3 | ··<Availability>· | 3 | ··<Availability>· |
| 4 | ····<Licence> | 4 | ····<Licence> |
| 5 | ······<FullName·lang="en">Creative·Commons·Attribution·4.0·International</FullName> | 5 | ······<FullName·lang="en">Creative·Commons·Attribution·4.0·International</FullName> |
| ⋮ | ⋮ |
| 7 | ······<LegalCode>https://creativecommons.org/licenses/by/4.0/legalcode</LegalCode> | 7 | ······<LegalCode>https://creativecommons.org/licenses/by/4.0/legalcode</LegalCode> |
| 8 | ····</Licence> | 8 | ····</Licence> |
| 9 | ··</Availability> | 9 | ··</Availability> |
| 10 | ··<DisorderList·count="3858"> | 10 | ··<DisorderList·count="3856"> |
| 11 | ····<Disorder·id="17601"> | 11 | ····<Disorder·id="17601"> |
| 12 | ······<OrphaCode>166024</OrphaCode> | 12 | ······<OrphaCode>166024</OrphaCode> |
| 13 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166024</ExpertLink> | 13 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166024</ExpertLink> |
| ⋮ | ⋮ |
| 45091 | ····<Disorder·id="485"> | 45091 | ····<Disorder·id="485"> |
| 45092 | ······<OrphaCode>1880</OrphaCode> | 45092 | ······<OrphaCode>1880</OrphaCode> |
| 45093 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1880</ExpertLink> | 45093 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1880</ExpertLink> |
| 45094 | ······<Name·lang="en">Ebstein·malformation</Name> | 45094 | ······<Name·lang="en">Ebstein·malformation·of·the·tricuspid·valve</Name> |
| 45095 | ······<DisorderType·id="21415"> | 45095 | ······<DisorderType·id="21415"> |
| 45096 | ········<Name·lang="en">Morphological·anomaly</Name> | 45096 | ········<Name·lang="en">Morphological·anomaly</Name> |
| 45097 | ······</DisorderType> | 45097 | ······</DisorderType> |
| ⋮ | ⋮ |
| 91242 | ····<Disorder·id="1007"> | 91242 | ····<Disorder·id="1007"> |
| 91243 | ······<OrphaCode>528</OrphaCode> | 91243 | ······<OrphaCode>528</OrphaCode> |
| 91244 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528</ExpertLink> | 91244 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528</ExpertLink> |
| 91245 | ······<Name·lang="en">Berardinelli-Seip·congenital·lipodystrophy</Name> | 91245 | ······<Name·lang="en">Congenital·generalized·lipodystrophy</Name> |
| 91246 | ······<DisorderType·id="21394"> | 91246 | ······<DisorderType·id="21394"> |
| 91247 | ········<Name·lang="en">Disease</Name> | 91247 | ········<Name·lang="en">Disease</Name> |
| 91248 | ······</DisorderType> | 91248 | ······</DisorderType> |
| ⋮ | ⋮ |
| 103179 | ····<Disorder·id="16705"> | 103179 | ····<Disorder·id="16705"> |
| 103180 | ······<OrphaCode>137678</OrphaCode> | 103180 | ······<OrphaCode>137678</OrphaCode> |
| 103181 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137678</ExpertLink> | 103181 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137678</ExpertLink> |
| 103182 | ······<Name·lang="en">Czech·dysplasia,·metatarsal·type</Name> | 103182 | ······<Name·lang="en">Spondyloepiphyseal·dysplasia·with·metatarsal·shortening</Name> |
| 103183 | ······<DisorderType·id="21394"> | 103183 | ······<DisorderType·id="21394"> |
| 103184 | ········<Name·lang="en">Disease</Name> | 103184 | ········<Name·lang="en">Disease</Name> |
| 103185 | ······</DisorderType> | 103185 | ······</DisorderType> |
| ⋮ | ⋮ |
| 104596 | ····<Disorder·id="1451"> | 104596 | ····<Disorder·id="1451"> |
| 104597 | ······<OrphaCode>1200</OrphaCode> | 104597 | ······<OrphaCode>1200</OrphaCode> |
| 104598 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1200</ExpertLink> | 104598 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1200</ExpertLink> |
| 104599 | ······<Name·lang="en">Choanal·atresia-hearing·loss-cardiac·defects-craniofacial·dysmorphism·syndrome</Name> | 104599 | ······<Name·lang="en">Burn-McKeown·syndrome</Name> |
| 104600 | ······<DisorderType·id="21401"> | 104600 | ······<DisorderType·id="21401"> |
| 104601 | ········<Name·lang="en">Malformation·syndrome</Name> | 104601 | ········<Name·lang="en">Malformation·syndrome</Name> |
| 104602 | ······</DisorderType> | 104602 | ······</DisorderType> |
| ⋮ | ⋮ |
| 122450 | ····<Disorder·id="17237"> | 122450 | ····<Disorder·id="17237"> |
| 122451 | ······<OrphaCode>158687</OrphaCode> | 122451 | ······<OrphaCode>158687</OrphaCode> |
| 122452 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158687</ExpertLink> | 122452 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158687</ExpertLink> |
| 122453 | ······<Name·lang="en">Lethal·acantholytic·epidermolysis·bullosa</Name> | 122453 | ······<Name·lang="en">Lethal·acantholytic·erosive·disorder</Name> |
| 122454 | ······<DisorderType·id="21394"> | 122454 | ······<DisorderType·id="21394"> |
| 122455 | ········<Name·lang="en">Disease</Name> | 122455 | ········<Name·lang="en">Disease</Name> |
| 122456 | ······</DisorderType> | 122456 | ······</DisorderType> |
| ⋮ | ⋮ |
| 122752 | ······<OrphaCode>158676</OrphaCode> | 122752 | ······<OrphaCode>158676</OrphaCode> |
| 122753 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158676</ExpertLink> | 122753 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158676</ExpertLink> |
| 122754 | ······<Name·lang="en">Dominant·dystrophic·epidermolysis·bullosa,·nails·only</Name> | 122754 | ······<Name·lang="en">Dominant·dystrophic·epidermolysis·bullosa,·nails·only</Name> |
| 122755 | ······<DisorderType·id="21394"> | 122755 | ······<DisorderType·id="21450"> |
| 122756 | ········<Name·lang="en">Disease</Name> | 122756 | ········<Name·lang="en">Clinical·subtype</Name> |
| 122757 | ······</DisorderType> | 122757 | ······</DisorderType> |
| 122758 | ······<DisorderGroup·id="36547"> | 122758 | ······<DisorderGroup·id="36554"> |
| 122759 | ········<Name·lang="en">Disorder</Name> | 122759 | ········<Name·lang="en">Subtype·of·disorder</Name> |
| 122760 | ······</DisorderGroup> | 122760 | ······</DisorderGroup> |
| 122761 | ······<DisorderGeneAssociationList·count="1"> | 122761 | ······<DisorderGeneAssociationList·count="1"> |
| 122762 | ········<DisorderGeneAssociation> | 122762 | ········<DisorderGeneAssociation> |
| ⋮ | ⋮ |
| 122817 | ······<OrphaCode>158673</OrphaCode> | 122817 | ······<OrphaCode>158673</OrphaCode> |
| 122818 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158673</ExpertLink> | 122818 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158673</ExpertLink> |
| 122819 | ······<Name·lang="en">Acral·dystrophic·epidermolysis·bullosa</Name> | 122819 | ······<Name·lang="en">Acral·dystrophic·epidermolysis·bullosa</Name> |
| 122820 | ······<DisorderType·id="21394"> | 122820 | ······<DisorderType·id="21450"> |
| 122821 | ········<Name·lang="en">Disease</Name> | 122821 | ········<Name·lang="en">Clinical·subtype</Name> |
| 122822 | ······</DisorderType> | 122822 | ······</DisorderType> |
| 122823 | ······<DisorderGroup·id="36547"> | 122823 | ······<DisorderGroup·id="36554"> |
| 122824 | ········<Name·lang="en">Disorder</Name> | 122824 | ········<Name·lang="en">Subtype·of·disorder</Name> |
| 122825 | ······</DisorderGroup> | 122825 | ······</DisorderGroup> |
| 122826 | ······<DisorderGeneAssociationList·count="1"> | 122826 | ······<DisorderGeneAssociationList·count="1"> |
| 122827 | ········<DisorderGeneAssociation> | 122827 | ········<DisorderGeneAssociation> |
| ⋮ | ⋮ |
| 122881 | ····<Disorder·id="17232"> | 122881 | ····<Disorder·id="17232"> |
| 122882 | ······<OrphaCode>158668</OrphaCode> | 122882 | ······<OrphaCode>158668</OrphaCode> |
| 122883 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158668</ExpertLink> | 122883 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158668</ExpertLink> |
| 122884 | ······<Name·lang="en">Epidermolysis·bullosa·simplex·due·to·plakophilin·deficiency</Name> | 122884 | ······<Name·lang="en">Ectodermal·dysplasia-skin·fragility·syndrome</Name> |
| 122885 | ······<DisorderType·id="21394"> | 122885 | ······<DisorderType·id="21394"> |
| 122886 | ········<Name·lang="en">Disease</Name> | 122886 | ········<Name·lang="en">Disease</Name> |
| 122887 | ······</DisorderType> | 122887 | ······</DisorderType> |
| ⋮ | ⋮ |
| 138187 | ······<OrphaCode>251393</OrphaCode> | 138187 | ······<OrphaCode>251393</OrphaCode> |
| 138188 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251393</ExpertLink> | 138188 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251393</ExpertLink> |
| 138189 | ······<Name·lang="en">Localized·junctional·epidermolysis·bullosa,·non-Herlitz·type</Name> | 138189 | ······<Name·lang="en">Localized·junctional·epidermolysis·bullosa,·non-Herlitz·type</Name> |
| 138190 | ······<DisorderType·id="21450"> | 138190 | ······<DisorderType·id="21394"> |
| 138191 | ········<Name·lang="en">Clinical·subtype</Name> | 138191 | ········<Name·lang="en">Disease</Name> |
| 138192 | ······</DisorderType> | 138192 | ······</DisorderType> |
| 138193 | ······<DisorderGroup·id="36554"> | 138193 | ······<DisorderGroup·id="36547"> |
| 138194 | ········<Name·lang="en">Subtype·of·disorder</Name> | 138194 | ········<Name·lang="en">Disorder</Name> |
| 138195 | ······</DisorderGroup> | 138195 | ······</DisorderGroup> |
| 138196 | ······<DisorderGeneAssociationList·count="2"> | 138196 | ······<DisorderGeneAssociationList·count="2"> |
| 138197 | ········<DisorderGeneAssociation> | 138197 | ········<DisorderGeneAssociation> |
| ⋮ | ⋮ |
| 182291 | ····<Disorder·id="3298"> | 182291 | ····<Disorder·id="3298"> |
| 182292 | ······<OrphaCode>832</OrphaCode> | 182292 | ······<OrphaCode>832</OrphaCode> |
| 182293 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=832</ExpertLink> | 182293 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=832</ExpertLink> |
| 182294 | ······<Name·lang="en">Succinyl-CoA:3-ketoacid·CoA·transferase·deficiency</Name> | 182294 | ······<Name·lang="en">Succinyl-CoA:3-oxoacid·CoA·transferase·deficiency</Name> |
| 182295 | ······<DisorderType·id="21394"> | 182295 | ······<DisorderType·id="21394"> |
| 182296 | ········<Name·lang="en">Disease</Name> | 182296 | ········<Name·lang="en">Disease</Name> |
| 182297 | ······</DisorderType> | 182297 | ······</DisorderType> |
| ⋮ | ⋮ |
| 280617 | ····<Disorder·id="24234"> | 280617 | ····<Disorder·id="24234"> |
| 280618 | ······<OrphaCode>468678</OrphaCode> | 280618 | ······<OrphaCode>468678</OrphaCode> |
| 280619 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468678</ExpertLink> | 280619 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468678</ExpertLink> |
| 280620 | ······<Name·lang="en">Intellectual·disability-microcephaly-strabismus-behavioral·abnormalities·syndrome</Name> | 280620 | ······<Name·lang="en">White-Sutton·syndrome</Name> |
| 280621 | ······<DisorderType·id="21394"> | 280621 | ······<DisorderType·id="21394"> |
| 280622 | ········<Name·lang="en">Disease</Name> | 280622 | ········<Name·lang="en">Disease</Name> |
| 280623 | ······</DisorderType> | 280623 | ······</DisorderType> |
| ⋮ | ⋮ |
| 314643 | ····<Disorder·id="26575"> | 314643 | ····<Disorder·id="26575"> |
| 314644 | ······<OrphaCode>508529</OrphaCode> | 314644 | ······<OrphaCode>508529</OrphaCode> |
| 314645 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508529</ExpertLink> | 314645 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508529</ExpertLink> |
| 314646 | ······<Name·lang="en">Generalized·basal·epidermolysis·bullosa·simplex·with·skin·atrophy,·scarring·and·hair·loss</Name> | 314646 | ······<Name·lang="en">Intermediate·epidermolysis·bullosa·simplex·with·cardiomyopathy</Name> |
| 314647 | ······<DisorderType·id="21394"> | 314647 | ······<DisorderType·id="21394"> |
| 314648 | ········<Name·lang="en">Disease</Name> | 314648 | ········<Name·lang="en">Disease</Name> |
| 314649 | ······</DisorderType> | 314649 | ······</DisorderType> |
| ⋮ | ⋮ |
| 326265 | ····<Disorder·id="8620"> | 326265 | ····<Disorder·id="8620"> |
| 326266 | ······<OrphaCode>2908</OrphaCode> | 326266 | ······<OrphaCode>2908</OrphaCode> |
| 326267 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2908</ExpertLink> | 326267 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2908</ExpertLink> |
| 326268 | ······<Name·lang="en">Kindler·syndrome</Name> | 326268 | ······<Name·lang="en">Kindler·epidermolysis·bullosa</Name> |
| 326269 | ······<DisorderType·id="21394"> | 326269 | ······<DisorderType·id="21394"> |
| 326270 | ········<Name·lang="en">Disease</Name> | 326270 | ········<Name·lang="en">Disease</Name> |
| 326271 | ······</DisorderType> | 326271 | ······</DisorderType> |
| ⋮ | ⋮ |
| 368094 | ········</DisorderGeneAssociation> | 368094 | ········</DisorderGeneAssociation> |
| 368095 | ······</DisorderGeneAssociationList> | 368095 | ······</DisorderGeneAssociationList> |
| 368096 | ····</Disorder> | 368096 | ····</Disorder> |
| 368097 | ····<Disorder·id="11906"> | |
| 368098 | ······<OrphaCode>89841</OrphaCode> | |
| 368099 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89841</ExpertLink> | |
| 368100 | ······<Name·lang="en">Centripetalis·recessive·dystrophic·epidermolysis·bullosa</Name> | |
| 368101 | ······<DisorderType·id="21394"> | |
| 368102 | ········<Name·lang="en">Disease</Name> | |
| 368103 | ······</DisorderType> | |
| 368104 | ······<DisorderGroup·id="36547"> | |
| 368105 | ········<Name·lang="en">Disorder</Name> | |
| 368106 | ······</DisorderGroup> | |
| 368107 | ······<DisorderGeneAssociationList·count="1"> | |
| 368108 | ········<DisorderGeneAssociation> | |
| 368109 | ··········<SourceOfValidation/> | |
| 368110 | ··········<Gene·id="15781"> | |
| 368111 | ············<Name·lang="en">collagen·type·VII·alpha·1·chain</Name> | |
| 368112 | ············<Symbol>COL7A1</Symbol> | |
| 368113 | ············<SynonymList·count="2"> | |
| 368114 | ··············<Synonym·lang="en">LC·collagen</Synonym> | |
| 368115 | ··············<Synonym·lang="en">collagen·VII,·alpha-1·polypeptide</Synonym> | |
| 368116 | ············</SynonymList> | |
| 368117 | ············<GeneType·id="25993"> | |
| 368118 | ··············<Name·lang="en">gene·with·protein·product</Name> | |
| 368119 | ············</GeneType> | |
| 368120 | ············<ExternalReferenceList·count="6"> | |
| 368121 | ··············<ExternalReference·id="59408"> | |
| 368122 | ················<Source>Ensembl</Source> | |
| 368123 | ················<Reference>ENSG00000114270</Reference> | |
| 368124 | ··············</ExternalReference> | |
| 368125 | ··············<ExternalReference·id="28159"> | |
| 368126 | ················<Source>Genatlas</Source> | |
| 368127 | ················<Reference>COL7A1</Reference> | |
| 368128 | ··············</ExternalReference> | |
| 368129 | ··············<ExternalReference·id="28157"> | |
| 368130 | ················<Source>HGNC</Source> | |
| 368131 | ················<Reference>2214</Reference> | |
| 368132 | ··············</ExternalReference> | |
| 368133 | ··············<ExternalReference·id="28156"> | |
| 368134 | ················<Source>OMIM</Source> | |
| 368135 | ················<Reference>120120</Reference> | |
| 368136 | ··············</ExternalReference> | |
| 368137 | ··············<ExternalReference·id="82866"> | |
| 368138 | ················<Source>Reactome</Source> | |
| 368139 | ················<Reference>Q02388</Reference> | |
| 368140 | ··············</ExternalReference> | |
| 368141 | ··············<ExternalReference·id="32753"> | |
| 368142 | ················<Source>SwissProt</Source> | |
| 368143 | ················<Reference>Q02388</Reference> | |
| 368144 | ··············</ExternalReference> | |
| 368145 | ············</ExternalReferenceList> | |
| 368146 | ············<LocusList·count="1"> | |
| 368147 | ··············<Locus·id="24001"> | |
| 368148 | ················<GeneLocus>3p21.31</GeneLocus> | |
| 368149 | ················<LocusKey>1</LocusKey> | |
| 368150 | ··············</Locus> | |
| 368151 | ············</LocusList> | |
| 368152 | ··········</Gene> | |
| 368153 | ··········<DisorderGeneAssociationType·id="25972"> | |
| 368154 | ············<Name·lang="en">Disease-causing·germline·mutation(s)·(loss·of·function)·in</Name> | |
| 368155 | ··········</DisorderGeneAssociationType> | |
| 368156 | ··········<DisorderGeneAssociationStatus·id="17991"> | |
| 368157 | ············<Name·lang="en">Assessed</Name> | |
| 368158 | ··········</DisorderGeneAssociationStatus> | |
| 368159 | ········</DisorderGeneAssociation> | |
| 368160 | ······</DisorderGeneAssociationList> | |
| 368161 | ····</Disorder> | |
| 368162 | ····<Disorder·id="11904"> | |
| 368163 | ······<OrphaCode>89839</OrphaCode> | |
| 368164 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89839</ExpertLink> | |
| 368165 | ······<Name·lang="en">Epidermolysis·bullosa·simplex·superficialis</Name> | |
| 368166 | ······<DisorderType·id="21394"> | |
| 368167 | ········<Name·lang="en">Disease</Name> | |
| 368168 | ······</DisorderType> | |
| 368169 | ······<DisorderGroup·id="36547"> | |
| 368170 | ········<Name·lang="en">Disorder</Name> | |
| 368171 | ······</DisorderGroup> | |
| 368172 | ······<DisorderGeneAssociationList·count="1"> | |
| 368173 | ········<DisorderGeneAssociation> | |
| 368174 | ··········<SourceOfValidation>11874498[PMID]</SourceOfValidation> | |
| 368175 | ··········<Gene·id="15781"> | |
| 368176 | ············<Name·lang="en">collagen·type·VII·alpha·1·chain</Name> | |
| 368177 | ············<Symbol>COL7A1</Symbol> | |
| 368178 | ············<SynonymList·count="2"> | |
| 368179 | ··············<Synonym·lang="en">LC·collagen</Synonym> | |
| 368180 | ··············<Synonym·lang="en">collagen·VII,·alpha-1·polypeptide</Synonym> | |
| 368181 | ············</SynonymList> | |
| 368182 | ············<GeneType·id="25993"> | |
| 368183 | ··············<Name·lang="en">gene·with·protein·product</Name> | |
| 368184 | ············</GeneType> | |
| 368185 | ············<ExternalReferenceList·count="6"> | |
| 368186 | ··············<ExternalReference·id="59408"> | |
| 368187 | ················<Source>Ensembl</Source> | |
| 368188 | ················<Reference>ENSG00000114270</Reference> | |
| 368189 | ··············</ExternalReference> | |
| 368190 | ··············<ExternalReference·id="28159"> | |
| 368191 | ················<Source>Genatlas</Source> | |
| 368192 | ················<Reference>COL7A1</Reference> | |
| 368193 | ··············</ExternalReference> | |
| 368194 | ··············<ExternalReference·id="28157"> | |
| 368195 | ················<Source>HGNC</Source> | |
| 368196 | ················<Reference>2214</Reference> | |
| 368197 | ··············</ExternalReference> | |
| 368198 | ··············<ExternalReference·id="28156"> | |
| 368199 | ················<Source>OMIM</Source> | |
| 368200 | ················<Reference>120120</Reference> | |
| 368201 | ··············</ExternalReference> | |
| 368202 | ··············<ExternalReference·id="82866"> | |
| 368203 | ················<Source>Reactome</Source> | |
| 368204 | ················<Reference>Q02388</Reference> | |
| 368205 | ··············</ExternalReference> | |
| 368206 | ··············<ExternalReference·id="32753"> | |
| 368207 | ················<Source>SwissProt</Source> | |
| 368208 | ················<Reference>Q02388</Reference> | |
| 368209 | ··············</ExternalReference> | |
| 368210 | ············</ExternalReferenceList> | |
| 368211 | ············<LocusList·count="1"> | |
| 368212 | ··············<Locus·id="24001"> | |
| 368213 | ················<GeneLocus>3p21.31</GeneLocus> | |
| 368214 | ················<LocusKey>1</LocusKey> | |
| 368215 | ··············</Locus> | |
| 368216 | ············</LocusList> | |
| 368217 | ··········</Gene> | |
| 368218 | ··········<DisorderGeneAssociationType·id="17949"> | |
| 368219 | ············<Name·lang="en">Disease-causing·germline·mutation(s)·in</Name> | |
| 368220 | ··········</DisorderGeneAssociationType> | |
| 368221 | ··········<DisorderGeneAssociationStatus·id="17991"> | |
| 368222 | ············<Name·lang="en">Assessed</Name> | |
| 368223 | ··········</DisorderGeneAssociationStatus> | |
| 368224 | ········</DisorderGeneAssociation> | |
| 368225 | ······</DisorderGeneAssociationList> | |
| 368226 | ····</Disorder> | |
| 368227 | ····<Disorder·id="11919"> | 368097 | ····<Disorder·id="11919"> |
| 368228 | ······<OrphaCode>90001</OrphaCode> | 368098 | ······<OrphaCode>90001</OrphaCode> |
| 368229 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90001</ExpertLink> | 368099 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90001</ExpertLink> |
| ⋮ | ⋮ |
| 371176 | ····<Disorder·id="11805"> | 371046 | ····<Disorder·id="11805"> |
| 371177 | ······<OrphaCode>88618</OrphaCode> | 371047 | ······<OrphaCode>88618</OrphaCode> |
| 371178 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88618</ExpertLink> | 371048 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88618</ExpertLink> |
| 371179 | ······<Name·lang="en">Psychomotor·delay·due·to·S-adenosylhomocysteine·hydrolase·deficiency</Name> | 371049 | ······<Name·lang="en">S-adenosylhomocysteine·hydrolase·deficiency</Name> |
| 371180 | ······<DisorderType·id="21394"> | 371050 | ······<DisorderType·id="21394"> |
| 371181 | ········<Name·lang="en">Disease</Name> | 371051 | ········<Name·lang="en">Disease</Name> |
| 371182 | ······</DisorderType> | 371052 | ······</DisorderType> |
| ⋮ | ⋮ |
| 393018 | ····<Disorder·id="11427"> | 392888 | ····<Disorder·id="11427"> |
| 393019 | ······<OrphaCode>79401</OrphaCode> | 392889 | ······<OrphaCode>79401</OrphaCode> |
| 393020 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79401</ExpertLink> | 392890 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79401</ExpertLink> |
| 393021 | ······<Name·lang="en">Epidermolysis·bullosa·simplex,·Ogna·type</Name> | 392891 | ······<Name·lang="en">PLEC-related·epidermolysis·bullosa·simplex·without·extracutaneous·involvement</Name> |
| 393022 | ······<DisorderType·id="21394"> | 392892 | ······<DisorderType·id="21394"> |
| 393023 | ········<Name·lang="en">Disease</Name> | 392893 | ········<Name·lang="en">Disease</Name> |
| 393024 | ······</DisorderType> | 392894 | ······</DisorderType> |
| ⋮ | ⋮ |
| 393314 | ······<OrphaCode>79402</OrphaCode> | 393184 | ······<OrphaCode>79402</OrphaCode> |
| 393315 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79402</ExpertLink> | 393185 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79402</ExpertLink> |
| 393316 | ······<Name·lang="en">Junctional·epidermolysis·bullosa,·generalized·intermediate</Name> | 393186 | ······<Name·lang="en">Junctional·epidermolysis·bullosa,·generalized·intermediate</Name> |
| 393317 | ······<DisorderType·id="21450"> | 393187 | ······<DisorderType·id="21394"> |
| 393318 | ········<Name·lang="en">Clinical·subtype</Name> | 393188 | ········<Name·lang="en">Disease</Name> |
| 393319 | ······</DisorderType> | 393189 | ······</DisorderType> |
| 393320 | ······<DisorderGroup·id="36554"> | 393190 | ······<DisorderGroup·id="36547"> |
| 393321 | ········<Name·lang="en">Subtype·of·disorder</Name> | 393191 | ········<Name·lang="en">Disorder</Name> |
| 393322 | ······</DisorderGroup> | 393192 | ······</DisorderGroup> |
| 393323 | ······<DisorderGeneAssociationList·count="5"> | 393193 | ······<DisorderGeneAssociationList·count="5"> |
| 393324 | ········<DisorderGeneAssociation> | 393194 | ········<DisorderGeneAssociation> |
| ⋮ | ⋮ |
| 394142 | ······<OrphaCode>79410</OrphaCode> | 394012 | ······<OrphaCode>79410</OrphaCode> |
| 394143 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79410</ExpertLink> | 394013 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79410</ExpertLink> |
| 394144 | ······<Name·lang="en">Pretibial·dystrophic·epidermolysis·bullosa</Name> | 394014 | ······<Name·lang="en">Pretibial·dystrophic·epidermolysis·bullosa</Name> |
| 394145 | ······<DisorderType·id="21394"> | 394015 | ······<DisorderType·id="21450"> |
| 394146 | ········<Name·lang="en">Disease</Name> | 394016 | ········<Name·lang="en">Clinical·subtype</Name> |
| 394147 | ······</DisorderType> | 394017 | ······</DisorderType> |
| 394148 | ······<DisorderGroup·id="36547"> | 394018 | ······<DisorderGroup·id="36554"> |
| 394149 | ········<Name·lang="en">Disorder</Name> | 394019 | ········<Name·lang="en">Subtype·of·disorder</Name> |
| 394150 | ······</DisorderGroup> | 394020 | ······</DisorderGroup> |
| 394151 | ······<DisorderGeneAssociationList·count="1"> | 394021 | ······<DisorderGeneAssociationList·count="1"> |
| 394152 | ········<DisorderGeneAssociation> | 394022 | ········<DisorderGeneAssociation> |
| ⋮ | ⋮ |
| 412298 | ····<Disorder·id="12657"> | 412168 | ····<Disorder·id="12657"> |
| 412299 | ······<OrphaCode>95702</OrphaCode> | 412169 | ······<OrphaCode>95702</OrphaCode> |
| 412300 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95702</ExpertLink> | 412170 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95702</ExpertLink> |
| 412301 | ······<Name·lang="en">Cytomegalic·congenital·adrenal·hypoplasia</Name> | 412171 | ······<Name·lang="en">X-linked·adrenal·hypoplasia·congenita·due·to·a·NR0B1·point·mutation</Name> |
| 412302 | ······<DisorderType·id="21394"> | 412172 | ······<DisorderType·id="21394"> |
| 412303 | ········<Name·lang="en">Disease</Name> | 412173 | ········<Name·lang="en">Disease</Name> |
| 412304 | ······</DisorderType> | 412174 | ······</DisorderType> |