commit b116a922e5dbc6d1e710e6df2ff6dd8b181e3236
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Author: davidlagorce <david.lagorce@inserm.fr>
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Date: Mon Feb 1 13:09:28 2021 +0100
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FEB 2021
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diff --git for en_product6.xml between January 2021 and February 2021
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old mode 100644
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new mode 100755
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index 2838df6..ef1fd89
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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> |