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/​Genesb/​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&amp;​Expert=166024</​ExpertLink>13 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​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&amp;​Expert=1880</​ExpertLink>45093 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​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">Morphologic​al·​anomaly</​Name>45096 ········​<Name·​lang="en">Morphologic​al·​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&amp;​Expert=528</​ExpertLink>91244 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=528</​ExpertLink>
91245 ······​<Name·​lang="en">Berardinell​i-​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&amp;​Expert=137678</​ExpertLink>103181 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=137678</​ExpertLink>
103182 ······​<Name·​lang="en">Czech·​dysplasia,​·​metatarsal·​type</​Name>103182 ······​<Name·​lang="en">Spondyloepi​physeal·​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&amp;​Expert=1200</​ExpertLink>104598 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​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">Malformatio​n·​syndrome</​Name>104601 ········​<Name·​lang="en">Malformatio​n·​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&amp;​Expert=158687</​ExpertLink>122452 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​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&amp;​Expert=158676</​ExpertLink>122753 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​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 ······​<DisorderGeneAssociat​ionList·​count="1">122761 ······​<DisorderGeneAssociat​ionList·​count="1">
122762 ········​<DisorderGeneAssociat​ion>122762 ········​<DisorderGeneAssociat​ion>
122817 ······​<OrphaCode>158673</​OrphaCode>122817 ······​<OrphaCode>158673</​OrphaCode>
122818 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=158673</​ExpertLink>122818 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​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 ······​<DisorderGeneAssociat​ionList·​count="1">122826 ······​<DisorderGeneAssociat​ionList·​count="1">
122827 ········​<DisorderGeneAssociat​ion>122827 ········​<DisorderGeneAssociat​ion>
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&amp;​Expert=158668</​ExpertLink>122883 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=158668</​ExpertLink>
122884 ······​<Name·​lang="en">Epidermolys​is·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&amp;​Expert=251393</​ExpertLink>138188 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​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 ······​<DisorderGeneAssociat​ionList·​count="2">138196 ······​<DisorderGeneAssociat​ionList·​count="2">
138197 ········​<DisorderGeneAssociat​ion>138197 ········​<DisorderGeneAssociat​ion>
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&amp;​Expert=832</​ExpertLink>182293 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​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&amp;​Expert=468678</​ExpertLink>280619 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=468678</​ExpertLink>
280620 ······​<Name·​lang="en">Intellectua​l·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&amp;​Expert=508529</​ExpertLink>314645 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=508529</​ExpertLink>
314646 ······​<Name·​lang="en">Generalized​·basal·​epidermolysis·​bullosa·​simplex·​with·skin·atrophy,​·scarring·and·hair·loss</​Name>314646 ······​<Name·​lang="en">Intermediat​e·​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&amp;​Expert=2908</​ExpertLink>326267 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​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 ········​</​DisorderGeneAssociati​on>368094 ········​</​DisorderGeneAssociati​on>
368095 ······​</​DisorderGeneAssociati​onList>368095 ······​</​DisorderGeneAssociati​onList>
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&amp;​Expert=89841</​ExpertLink>
368100 ······​<Name·​lang="en">Centripetal​is·​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 ······​<DisorderGeneAssociat​ionList·​count="1">
368108 ········​<DisorderGeneAssociat​ion>
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 ············​<ExternalReferenceLis​t·​count="6">
368121 ··············​<ExternalReference·​id="59408">
368122 ················​<Source>Ensembl</​Source>
368123 ················​<Reference>ENSG000001​14270</​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 ··········​<DisorderGeneAssociat​ionType·​id="25972">
368154 ············​<Name·​lang="en">Disease-​causing·​germline·​mutation(s)​·​(loss·​of·​function)​·​in</​Name>
368155 ··········​</​DisorderGeneAssociati​onType>
368156 ··········​<DisorderGeneAssociat​ionStatus·​id="17991">
368157 ············​<Name·​lang="en">Assessed</​Name>
368158 ··········​</​DisorderGeneAssociati​onStatus>
368159 ········​</​DisorderGeneAssociati​on>
368160 ······​</​DisorderGeneAssociati​onList>
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&amp;​Expert=89839</​ExpertLink>
368165 ······​<Name·​lang="en">Epidermolys​is·​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 ······​<DisorderGeneAssociat​ionList·​count="1">
368173 ········​<DisorderGeneAssociat​ion>
368174 ··········​<SourceOfValidation>1​1874498[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 ············​<ExternalReferenceLis​t·​count="6">
368186 ··············​<ExternalReference·​id="59408">
368187 ················​<Source>Ensembl</​Source>
368188 ················​<Reference>ENSG000001​14270</​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 ··········​<DisorderGeneAssociat​ionType·​id="17949">
368219 ············​<Name·​lang="en">Disease-​causing·​germline·​mutation(s)​·​in</​Name>
368220 ··········​</​DisorderGeneAssociati​onType>
368221 ··········​<DisorderGeneAssociat​ionStatus·​id="17991">
368222 ············​<Name·​lang="en">Assessed</​Name>
368223 ··········​</​DisorderGeneAssociati​onStatus>
368224 ········​</​DisorderGeneAssociati​on>
368225 ······​</​DisorderGeneAssociati​onList>
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&amp;​Expert=90001</​ExpertLink>368099 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​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&amp;​Expert=88618</​ExpertLink>371048 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​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&amp;​Expert=79401</​ExpertLink>392890 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=79401</​ExpertLink>
393021 ······​<Name·​lang="en">Epidermolys​is·​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&amp;​Expert=79402</​ExpertLink>393185 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​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 ······​<DisorderGeneAssociat​ionList·​count="5">393193 ······​<DisorderGeneAssociat​ionList·​count="5">
393324 ········​<DisorderGeneAssociat​ion>393194 ········​<DisorderGeneAssociat​ion>
394142 ······​<OrphaCode>79410</​OrphaCode>394012 ······​<OrphaCode>79410</​OrphaCode>
394143 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=79410</​ExpertLink>394013 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​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 ······​<DisorderGeneAssociat​ionList·​count="1">394021 ······​<DisorderGeneAssociat​ionList·​count="1">
394152 ········​<DisorderGeneAssociat​ion>394022 ········​<DisorderGeneAssociat​ion>
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&amp;​Expert=95702</​ExpertLink>412170 ······​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​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>