commit b116a922e5dbc6d1e710e6df2ff6dd8b181e3236
Author: davidlagorce <david.lagorce@inserm.fr>
Date: Mon Feb 1 13:09:28 2021 +0100
FEB 2021
diff --git for en_product4.xml between January 2021 and February 2021
old mode 100644
new mode 100755
index 6b01fb9..779df45
a/​Rareb/​Rare
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:​36:​29"·​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:​37:​08"·​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 ··​<HPODisorderSetStatus​List·​count="4069">10 ··​<HPODisorderSetStatus​List·​count="4096">
11 ····​<HPODisorderSetStatus​·​id="1">11 ····​<HPODisorderSetStatus​·​id="1">
12 ······​<Disorder·​id="2">12 ······​<Disorder·​id="2">
13 ········​<OrphaCode>58</​OrphaCode>13 ········​<OrphaCode>58</​OrphaCode>
39082 ······​<Online>y</​Online>39082 ······​<Online>y</​Online>
39083 ······​<ValidationDate>2016-​06-​01·​00:​00:​00.​0</​ValidationDate>39083 ······​<ValidationDate>2016-​06-​01·​00:​00:​00.​0</​ValidationDate>
39084 ····​</​HPODisorderSetStatus>​39084 ····​</​HPODisorderSetStatus>​
39085 ····​<HPODisorderSetStatus​·​id="129">
39086 ······​<Disorder·​id="263">
39087 ········​<OrphaCode>99</​OrphaCode>
39088 ········​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=99</​ExpertLink>
39089 ········​<Name·​lang="en">Autosomal·​dominant·​cerebellar·​ataxia</​Name>
39090 ········​<DisorderType·​id="36561">
39091 ··········​<Name·​lang="en">Category</​Name>
39092 ········​</​DisorderType>
39093 ········​<DisorderGroup·​id="36540">
39094 ··········​<Name·​lang="en">Group·​of·​disorders</​Name>
39095 ········​</​DisorderGroup>
39096 ········​<HPODisorderAssociati​onList·​count="18">
39097 ··········​<HPODisorderAssociati​on·​id="4156">
39098 ············​<HPO·​id="1260">
39099 ··············​<HPOId>HP:​0000544</​HPOId>
39100 ··············​<HPOTerm>External·​ophthalmoplegia</​HPOTerm>
39101 ············​</​HPO>
39102 ············​<HPOFrequency·​id="28426">
39103 ··············​<Name·​lang="en">Occasional·​(29-​5%)​</​Name>
39104 ············​</​HPOFrequency>
39105 ············​<DiagnosticCriteria/​>
39106 ··········​</​HPODisorderAssociatio​n>
39107 ··········​<HPODisorderAssociati​on·​id="4157">
39108 ············​<HPO·​id="8">
39109 ··············​<HPOId>HP:​0000639</​HPOId>
39110 ··············​<HPOTerm>Nystagmus</​HPOTerm>
39111 ············​</​HPO>
39112 ············​<HPOFrequency·​id="28412">
39113 ··············​<Name·​lang="en">Very·​frequent·​(99-​80%)​</​Name>
39114 ············​</​HPOFrequency>
39115 ············​<DiagnosticCriteria/​>
39116 ··········​</​HPODisorderAssociatio​n>
39117 ··········​<HPODisorderAssociati​on·​id="4158">
39118 ············​<HPO·​id="129">
39119 ··············​<HPOId>HP:​0000648</​HPOId>
39120 ··············​<HPOTerm>Optic·​atrophy</​HPOTerm>
39121 ············​</​HPO>
39122 ············​<HPOFrequency·​id="28412">
39123 ··············​<Name·​lang="en">Very·​frequent·​(99-​80%)​</​Name>
39124 ············​</​HPOFrequency>
39125 ············​<DiagnosticCriteria/​>
39126 ··········​</​HPODisorderAssociatio​n>
39127 ··········​<HPODisorderAssociati​on·​id="4159">
39128 ············​<HPO·​id="77">
39129 ··············​<HPOId>HP:​0000708</​HPOId>
39130 ··············​<HPOTerm>Behavioral·​abnormality</​HPOTerm>
39131 ············​</​HPO>
39132 ············​<HPOFrequency·​id="28419">
39133 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
39134 ············​</​HPOFrequency>
39135 ············​<DiagnosticCriteria/​>
39136 ··········​</​HPODisorderAssociatio​n>
39137 ··········​<HPODisorderAssociati​on·​id="4160">
39138 ············​<HPO·​id="20">
39139 ··············​<HPOId>HP:​0001251</​HPOId>
39140 ··············​<HPOTerm>Ataxia</​HPOTerm>
39141 ············​</​HPO>
39142 ············​<HPOFrequency·​id="28412">
39143 ··············​<Name·​lang="en">Very·​frequent·​(99-​80%)​</​Name>
39144 ············​</​HPOFrequency>
39145 ············​<DiagnosticCriteria/​>
39146 ··········​</​HPODisorderAssociatio​n>
39147 ··········​<HPODisorderAssociati​on·​id="4161">
39148 ············​<HPO·​id="22">
39149 ··············​<HPOId>HP:​0001257</​HPOId>
39150 ··············​<HPOTerm>Spasticity</​HPOTerm>
39151 ············​</​HPO>
39152 ············​<HPOFrequency·​id="28419">
39153 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
39154 ············​</​HPOFrequency>
39155 ············​<DiagnosticCriteria/​>
39156 ··········​</​HPODisorderAssociatio​n>
39157 ··········​<HPODisorderAssociati​on·​id="4162">
39158 ············​<HPO·​id="23">
39159 ··············​<HPOId>HP:​0001260</​HPOId>
39160 ··············​<HPOTerm>Dysarthria</​HPOTerm>
39161 ············​</​HPO>
39162 ············​<HPOFrequency·​id="28419">
39163 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
39164 ············​</​HPOFrequency>
39165 ············​<DiagnosticCriteria/​>
39166 ··········​</​HPODisorderAssociatio​n>
39167 ··········​<HPODisorderAssociati​on·​id="4163">
39168 ············​<HPO·​id="1211">
39169 ··············​<HPOId>HP:​0001272</​HPOId>
39170 ··············​<HPOTerm>Cerebellar·​atrophy</​HPOTerm>
39171 ············​</​HPO>
39172 ············​<HPOFrequency·​id="28412">
39173 ··············​<Name·​lang="en">Very·​frequent·​(99-​80%)​</​Name>
39174 ············​</​HPOFrequency>
39175 ············​<DiagnosticCriteria/​>
39176 ··········​</​HPODisorderAssociatio​n>
39177 ··········​<HPODisorderAssociati​on·​id="4164">
39178 ············​<HPO·​id="25">
39179 ··············​<HPOId>HP:​0001288</​HPOId>
39180 ··············​<HPOTerm>Gait·​disturbance</​HPOTerm>
39181 ············​</​HPO>
39182 ············​<HPOFrequency·​id="28412">
39183 ··············​<Name·​lang="en">Very·​frequent·​(99-​80%)​</​Name>
39184 ············​</​HPOFrequency>
39185 ············​<DiagnosticCriteria/​>
39186 ··········​</​HPODisorderAssociatio​n>
39187 ··········​<HPODisorderAssociati​on·​id="4165">
39188 ············​<HPO·​id="479">
39189 ··············​<HPOId>HP:​0001315</​HPOId>
39190 ··············​<HPOTerm>Reduced·​tendon·​reflexes</​HPOTerm>
39191 ············​</​HPO>
39192 ············​<HPOFrequency·​id="28419">
39193 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
39194 ············​</​HPOFrequency>
39195 ············​<DiagnosticCriteria/​>
39196 ··········​</​HPODisorderAssociatio​n>
39197 ··········​<HPODisorderAssociati​on·​id="4166">
39198 ············​<HPO·​id="1025">
39199 ··············​<HPOId>HP:​0001605</​HPOId>
39200 ··············​<HPOTerm>Vocal·​cord·​paralysis</​HPOTerm>
39201 ············​</​HPO>
39202 ············​<HPOFrequency·​id="28419">
39203 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
39204 ············​</​HPOFrequency>
39205 ············​<DiagnosticCriteria/​>
39206 ··········​</​HPODisorderAssociatio​n>
39207 ··········​<HPODisorderAssociati​on·​id="4167">
39208 ············​<HPO·​id="249">
39209 ··············​<HPOId>HP:​0002097</​HPOId>
39210 ··············​<HPOTerm>Emphysema</​HPOTerm>
39211 ············​</​HPO>
39212 ············​<HPOFrequency·​id="28419">
39213 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
39214 ············​</​HPOFrequency>
39215 ············​<DiagnosticCriteria/​>
39216 ··········​</​HPODisorderAssociatio​n>
39217 ··········​<HPODisorderAssociati​on·​id="4168">
39218 ············​<HPO·​id="1261">
39219 ··············​<HPOId>HP:​0003693</​HPOId>
39220 ··············​<HPOTerm>Distal·​amyotrophy</​HPOTerm>
39221 ············​</​HPO>
39222 ············​<HPOFrequency·​id="28426">
39223 ··············​<Name·​lang="en">Occasional·​(29-​5%)​</​Name>
39224 ············​</​HPOFrequency>
39225 ············​<DiagnosticCriteria/​>
39226 ··········​</​HPODisorderAssociatio​n>
39227 ··········​<HPODisorderAssociati​on·​id="4169">
39228 ············​<HPO·​id="90">
39229 ··············​<HPOId>HP:​0005978</​HPOId>
39230 ··············​<HPOTerm>Type·​II·​diabetes·​mellitus</​HPOTerm>
39231 ············​</​HPO>
39232 ············​<HPOFrequency·​id="28426">
39233 ··············​<Name·​lang="en">Occasional·​(29-​5%)​</​Name>
39234 ············​</​HPOFrequency>
39235 ············​<DiagnosticCriteria/​>
39236 ··········​</​HPODisorderAssociatio​n>
39237 ··········​<HPODisorderAssociati​on·​id="4170">
39238 ············​<HPO·​id="690">
39239 ··············​<HPOId>HP:​0007328</​HPOId>
39240 ··············​<HPOTerm>Impaired·​pain·​sensation</​HPOTerm>
39241 ············​</​HPO>
39242 ············​<HPOFrequency·​id="28419">
39243 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
39244 ············​</​HPOFrequency>
39245 ············​<DiagnosticCriteria/​>
39246 ··········​</​HPODisorderAssociatio​n>
39247 ··········​<HPODisorderAssociati​on·​id="4171">
39248 ············​<HPO·​id="135">
39249 ··············​<HPOId>HP:​0007703</​HPOId>
39250 ··············​<HPOTerm>Abnormality·​of·​retinal·​pigmentation</​HPOTerm>
39251 ············​</​HPO>
39252 ············​<HPOFrequency·​id="28412">
39253 ··············​<Name·​lang="en">Very·​frequent·​(99-​80%)​</​Name>
39254 ············​</​HPOFrequency>
39255 ············​<DiagnosticCriteria/​>
39256 ··········​</​HPODisorderAssociatio​n>
39257 ··········​<HPODisorderAssociati​on·​id="4172">
39258 ············​<HPO·​id="1262">
39259 ··············​<HPOId>HP:​0012074</​HPOId>
39260 ··············​<HPOTerm>Tonic·​pupil</​HPOTerm>
39261 ············​</​HPO>
39262 ············​<HPOFrequency·​id="28412">
39263 ··············​<Name·​lang="en">Very·​frequent·​(99-​80%)​</​Name>
39264 ············​</​HPOFrequency>
39265 ············​<DiagnosticCriteria/​>
39266 ··········​</​HPODisorderAssociatio​n>
39267 ··········​<HPODisorderAssociati​on·​id="4173">
39268 ············​<HPO·​id="261">
39269 ··············​<HPOId>HP:​0100022</​HPOId>
39270 ··············​<HPOTerm>Abnormality·​of·​movement</​HPOTerm>
39271 ············​</​HPO>
39272 ············​<HPOFrequency·​id="28419">
39273 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
39274 ············​</​HPOFrequency>
39275 ············​<DiagnosticCriteria/​>
39276 ··········​</​HPODisorderAssociatio​n>
39277 ········​</​HPODisorderAssociatio​nList>
39278 ······​</​Disorder>
39279 ······​<Source/​>
39280 ······​<ValidationStatus>y</​ValidationStatus>
39281 ······​<Online>y</​Online>
39282 ······​<ValidationDate>2016-​06-​01·​00:​00:​00.​0</​ValidationDate>
39283 ····​</​HPODisorderSetStatus>​
39284 ····​<HPODisorderSetStatus​·​id="128">39085 ····​<HPODisorderSetStatus​·​id="128">
39285 ······​<Disorder·​id="261">39086 ······​<Disorder·​id="261">
39286 ········​<OrphaCode>87</​OrphaCode>39087 ········​<OrphaCode>87</​OrphaCode>
39780 ······​<Online>y</​Online>39581 ······​<Online>y</​Online>
39781 ······​<ValidationDate>2016-​06-​01·​00:​00:​00.​0</​ValidationDate>39582 ······​<ValidationDate>2016-​06-​01·​00:​00:​00.​0</​ValidationDate>
39782 ····​</​HPODisorderSetStatus>​39583 ····​</​HPODisorderSetStatus>​
39783 ····​<HPODisorderSetStatus​·​id="131">
39784 ······​<Disorder·​id="275">
39785 ········​<OrphaCode>2442</​OrphaCode>
39786 ········​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=2442</​ExpertLink>
39787 ········​<Name·​lang="en">X-​linked·​lymphoproliferative·​disease</​Name>
39788 ········​<DisorderType·​id="21436">
39789 ··········​<Name·​lang="en">Clinical·​group</​Name>
39790 ········​</​DisorderType>
39791 ········​<DisorderGroup·​id="36540">
39792 ··········​<Name·​lang="en">Group·​of·​disorders</​Name>
39793 ········​</​DisorderGroup>
39794 ········​<HPODisorderAssociati​onList·​count="7">
39795 ··········​<HPODisorderAssociati​on·​id="4196">
39796 ············​<HPO·​id="82">
39797 ··············​<HPOId>HP:​0001744</​HPOId>
39798 ··············​<HPOTerm>Splenomegaly​</​HPOTerm>
39799 ············​</​HPO>
39800 ············​<HPOFrequency·​id="28419">
39801 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
39802 ············​</​HPOFrequency>
39803 ············​<DiagnosticCriteria/​>
39804 ··········​</​HPODisorderAssociatio​n>
39805 ··········​<HPODisorderAssociati​on·​id="4197">
39806 ············​<HPO·​id="165">
39807 ··············​<HPOId>HP:​0001903</​HPOId>
39808 ··············​<HPOTerm>Anemia</​HPOTerm>
39809 ············​</​HPO>
39810 ············​<HPOFrequency·​id="28426">
39811 ··············​<Name·​lang="en">Occasional·​(29-​5%)​</​Name>
39812 ············​</​HPOFrequency>
39813 ············​<DiagnosticCriteria/​>
39814 ··········​</​HPODisorderAssociatio​n>
39815 ··········​<HPODisorderAssociati​on·​id="4198">
39816 ············​<HPO·​id="84">
39817 ··············​<HPOId>HP:​0002240</​HPOId>
39818 ··············​<HPOTerm>Hepatomegaly​</​HPOTerm>
39819 ············​</​HPO>
39820 ············​<HPOFrequency·​id="28419">
39821 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
39822 ············​</​HPOFrequency>
39823 ············​<DiagnosticCriteria/​>
39824 ··········​</​HPODisorderAssociatio​n>
39825 ··········​<HPODisorderAssociati​on·​id="4199">
39826 ············​<HPO·​id="853">
39827 ··············​<HPOId>HP:​0002665</​HPOId>
39828 ··············​<HPOTerm>Lymphoma</​HPOTerm>
39829 ············​</​HPO>
39830 ············​<HPOFrequency·​id="28419">
39831 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
39832 ············​</​HPOFrequency>
39833 ············​<DiagnosticCriteria/​>
39834 ··········​</​HPODisorderAssociatio​n>
39835 ··········​<HPODisorderAssociati​on·​id="4200">
39836 ············​<HPO·​id="760">
39837 ··············​<HPOId>HP:​0002716</​HPOId>
39838 ··············​<HPOTerm>Lymphadenopa​thy</​HPOTerm>
39839 ············​</​HPO>
39840 ············​<HPOFrequency·​id="28419">
39841 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
39842 ············​</​HPOFrequency>
39843 ············​<DiagnosticCriteria/​>
39844 ··········​</​HPODisorderAssociatio​n>
39845 ··········​<HPODisorderAssociati​on·​id="4201">
39846 ············​<HPO·​id="462">
39847 ··············​<HPOId>HP:​0004313</​HPOId>
39848 ··············​<HPOTerm>Decreased·​antibody·​level·​in·​blood</​HPOTerm>
39849 ············​</​HPO>
39850 ············​<HPOFrequency·​id="28419">
39851 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
39852 ············​</​HPOFrequency>
39853 ············​<DiagnosticCriteria/​>
39854 ··········​</​HPODisorderAssociatio​n>
39855 ··········​<HPODisorderAssociati​on·​id="4202">
39856 ············​<HPO·​id="602">
39857 ··············​<HPOId>HP:​0005374</​HPOId>
39858 ··············​<HPOTerm>Cellular·​immunodeficiency</​HPOTerm>
39859 ············​</​HPO>
39860 ············​<HPOFrequency·​id="28412">
39861 ··············​<Name·​lang="en">Very·​frequent·​(99-​80%)​</​Name>
39862 ············​</​HPOFrequency>
39863 ············​<DiagnosticCriteria/​>
39864 ··········​</​HPODisorderAssociatio​n>
39865 ········​</​HPODisorderAssociatio​nList>
39866 ······​</​Disorder>
39867 ······​<Source/​>
39868 ······​<ValidationStatus>y</​ValidationStatus>
39869 ······​<Online>y</​Online>
39870 ······​<ValidationDate>2016-​06-​01·​00:​00:​00.​0</​ValidationDate>
39871 ····​</​HPODisorderSetStatus>​
39872 ····​<HPODisorderSetStatus​·​id="130">39584 ····​<HPODisorderSetStatus​·​id="130">
39873 ······​<Disorder·​id="265">39585 ······​<Disorder·​id="265">
39874 ········​<OrphaCode>313</​OrphaCode>39586 ········​<OrphaCode>313</​OrphaCode>
44975 ········​<DisorderGroup·​id="36540">44687 ········​<DisorderGroup·​id="36540">
44976 ··········​<Name·​lang="en">Group·​of·​disorders</​Name>44688 ··········​<Name·​lang="en">Group·​of·​disorders</​Name>
44977 ········​</​DisorderGroup>44689 ········​</​DisorderGroup>
44978 ········​<HPODisorderAssociati​onList·​count="17">44690 ········​<HPODisorderAssociati​onList·​count="23">
44979 ··········​<HPODisorderAssociati​on·​id="4747">44691 ··········​<HPODisorderAssociati​on·​id="435532">
44980 ············​<HPO·​id="1346">44692 ············​<HPO·​id="4442">
44981 ··············​<HPOId>HP:​0000483</​HPOId>44693 ··············​<HPOId>HP:​0000539</​HPOId>
44982 ··············​<HPOTerm>Astigmatism<​/​HPOTerm>44694 ··············​<HPOTerm>Abnormality·of·refraction</​HPOTerm>
44983 ············​</​HPO>44695 ············​</​HPO>
44984 ············​<HPOFrequency·​id="28419">44696 ············​<HPOFrequency·​id="28412">
44985 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>44697 ··············​<Name·​lang="en">Very·frequent·​(99-​80%)​</​Name>
44986 ············​</​HPOFrequency>44698 ············​</​HPOFrequency>
44987 ············​<DiagnosticCriteria/​>44699 ············​<DiagnosticCriteria/​>
44988 ··········​</​HPODisorderAssociatio​n>44700 ··········​</​HPODisorderAssociatio​n>
44989 ··········​<HPODisorderAssociati​on·​id="4748">44701 ··········​<HPODisorderAssociati​on·​id="435533">
44990 ············​<HPO·​id="335">44702 ············​<HPO·​id="207">
44991 ··············​<HPOId>HP:​0000486</​HPOId>44703 ··············​<HPOId>HP:​0000613</​HPOId>
44992 ··············​<HPOTerm>Strabismus</​HPOTerm>44704 ··············​<HPOTerm>Photophobia<​/​HPOTerm>
44993 ············​</​HPO>44705 ············​</​HPO>
44994 ············​<HPOFrequency·​id="28419">44706 ············​<HPOFrequency·​id="28412">
44995 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>44707 ··············​<Name·​lang="en">Very·frequent·​(99-​80%)​</​Name>
44996 ············​</​HPOFrequency>44708 ············​</​HPOFrequency>
44997 ············​<DiagnosticCriteria/​>44709 ············​<DiagnosticCriteria/​>
44998 ··········​</​HPODisorderAssociatio​n>44710 ··········​</​HPODisorderAssociatio​n>
44999 ··········​<HPODisorderAssociati​on·​id="4749">44711 ··········​<HPODisorderAssociati​on·​id="435534">
45000 ············​<HPO·​id="127">44712 ············​<HPO·​id="8">
45001 ··············​<HPOId>HP:​0000505</​HPOId>44713 ··············​<HPOId>HP:​0000639</​HPOId>
45002 ··············​<HPOTerm>Visual·impairment</​HPOTerm>44714 ··············​<HPOTerm>Nystagmus</​HPOTerm>
45003 ············​</​HPO>44715 ············​</​HPO>
45004 ············​<HPOFrequency·​id="28419">44716 ············​<HPOFrequency·​id="28412">
45005 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>44717 ··············​<Name·​lang="en">Very·frequent·​(99-​80%)​</​Name>
45006 ············​</​HPOFrequency>44718 ············​</​HPOFrequency>
45007 ············​<DiagnosticCriteria/​>44719 ············​<DiagnosticCriteria/​>
45008 ··········​</​HPODisorderAssociatio​n>44720 ··········​</​HPODisorderAssociatio​n>
45009 ··········​<HPODisorderAssociati​on·​id="4750">44721 ··········​<HPODisorderAssociati​on·​id="435535">
45010 ············​<HPO·​id="619">44722 ············​<HPO·​id="279">
45011 ··············​<HPOId>HP:​0000545</​HPOId>44723 ··············​<HPOId>HP:​0000992</​HPOId>
45012 ··············​<HPOTerm>Myopia</​HPOTerm>44724 ··············​<HPOTerm>Cutaneous·photosensitivity</​HPOTerm>
45013 ············​</​HPO>44725 ············​</​HPO>
45014 ············​<HPOFrequency·​id="28419">44726 ············​<HPOFrequency·​id="28412">
45015 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>44727 ··············​<Name·​lang="en">Very·frequent·​(99-​80%)​</​Name>
45016 ············​</​HPOFrequency>44728 ············​</​HPOFrequency>
45017 ············​<DiagnosticCriteria/​>44729 ············​<DiagnosticCriteria/​>
45018 ··········​</​HPODisorderAssociatio​n>44730 ··········​</​HPODisorderAssociatio​n>
45019 ··········​<HPODisorderAssociati​on·​id="4751">44731 ··········​<HPODisorderAssociati​on·​id="435536">
45020 ············​<HPO·​id="207">44732 ············​<HPO·​id="738">
45021 ··············​<HPOId>HP:​0000613</​HPOId>44733 ··············​<HPOId>HP:​0007513</​HPOId>
45022 ··············​<HPOTerm>Photophobia<​/​HPOTerm>44734 ··············​<HPOTerm>Generalized·hypopigmentation</​HPOTerm>
45023 ············​</​HPO>44735 ············​</​HPO>
45024 ············​<HPOFrequency·​id="28419">44736 ············​<HPOFrequency·​id="28412">
45025 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>44737 ··············​<Name·​lang="en">Very·frequent·​(99-​80%)​</​Name>
45026 ············​</​HPOFrequency>44738 ············​</​HPOFrequency>
45027 ············​<DiagnosticCriteria/​>44739 ············​<DiagnosticCriteria/​>
45028 ··········​</​HPODisorderAssociatio​n>44740 ··········​</​HPODisorderAssociatio​n>
45029 ··········​<HPODisorderAssociati​on·​id="4752">44741 ··········​<HPODisorderAssociati​on·​id="435537">
45030 ············​<HPO·​id="8">44742 ············​<HPO·​id="4008">
45031 ··············​<HPOId>HP:​0000639</​HPOId>44743 ··············​<HPOId>HP:​0007663</​HPOId>
45032 ··············​<HPOTerm>Nystagmus</​HPOTerm>44744 ··············​<HPOTerm>Reduced·visual·acuity</​HPOTerm>
45033 ············​</​HPO>44745 ············​</​HPO>
45034 ············​<HPOFrequency·​id="28412">44746 ············​<HPOFrequency·​id="28412">
45035 ··············​<Name·​lang="en">Very·​frequent·​(99-​80%)​</​Name>44747 ··············​<Name·​lang="en">Very·​frequent·​(99-​80%)​</​Name>
45036 ············​</​HPOFrequency>44748 ············​</​HPOFrequency>
45037 ············​<DiagnosticCriteria/​>44749 ············​<DiagnosticCriteria/​>
45038 ··········​</​HPODisorderAssociatio​n>44750 ··········​</​HPODisorderAssociatio​n>
45039 ··········​<HPODisorderAssociati​on·​id="4753">44751 ··········​<HPODisorderAssociati​on·​id="435538">
45040 ············​<HPO·​id="279">44752 ············​<HPO·​id="1215">
45041 ··············​<HPOId>HP:​0000992</​HPOId>44753 ··············​<HPOId>HP:​0007730</​HPOId>
45042 ··············​<HPOTerm>Cutaneous·photosensitivity</​HPOTerm>44754 ··············​<HPOTerm>Iris·​hypopigmentation</​HPOTerm>
45043 ············​</​HPO>44755 ············​</​HPO>
45044 ············​<HPOFrequency·​id="28412">44756 ············​<HPOFrequency·​id="28412">
45045 ··············​<Name·​lang="en">Very·​frequent·​(99-​80%)​</​Name>44757 ··············​<Name·​lang="en">Very·​frequent·​(99-​80%)​</​Name>
45046 ············​</​HPOFrequency>44758 ············​</​HPOFrequency>
45047 ············​<DiagnosticCriteria/​>44759 ············​<DiagnosticCriteria/​>
45048 ··········​</​HPODisorderAssociatio​n>44760 ··········​</​HPODisorderAssociatio​n>
45049 ··········​<HPODisorderAssociati​on·​id="4754">44761 ··········​<HPODisorderAssociati​on·​id="435539">
45050 ············​<HPO·​id="1120">44762 ············​<HPO·​id="1350">
45051 ··············​<HPOId>HP:​0002227</​HPOId>44763 ··············​<HPOId>HP:​0007750</​HPOId>
45052 ··············​<HPOTerm>White·eyelashes</​HPOTerm>44764 ··············​<HPOTerm>Hypoplasia·of·the·fovea</​HPOTerm>
44765 ············​</​HPO>
44766 ············​<HPOFrequency·​id="28412">
44767 ··············​<Name·​lang="en">Very·​frequent·​(99-​80%)​</​Name>
44768 ············​</​HPOFrequency>
44769 ············​<DiagnosticCriteria/​>
44770 ··········​</​HPODisorderAssociatio​n>
44771 ··········​<HPODisorderAssociati​on·​id="435540">
44772 ············​<HPO·​id="3004">
44773 ··············​<HPOId>HP:​0007894</​HPOId>
44774 ··············​<HPOTerm>Hypopigmenta​tion·​of·​the·​fundus</​HPOTerm>
44775 ············​</​HPO>
44776 ············​<HPOFrequency·​id="28412">
44777 ··············​<Name·​lang="en">Very·​frequent·​(99-​80%)​</​Name>
44778 ············​</​HPOFrequency>
44779 ············​<DiagnosticCriteria/​>
44780 ··········​</​HPODisorderAssociatio​n>
44781 ··········​<HPODisorderAssociati​on·​id="435541">
44782 ············​<HPO·​id="335">
44783 ··············​<HPOId>HP:​0000486</​HPOId>
44784 ··············​<HPOTerm>Strabismus</​HPOTerm>
45053 ············​</​HPO>44785 ············​</​HPO>
45054 ············​<HPOFrequency·​id="28419">44786 ············​<HPOFrequency·​id="28419">
45055 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>44787 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
45056 ············​</​HPOFrequency>44788 ············​</​HPOFrequency>
45057 ············​<DiagnosticCriteria/​>44789 ············​<DiagnosticCriteria/​>
45058 ··········​</​HPODisorderAssociatio​n>44790 ··········​</​HPODisorderAssociatio​n>
45059 ··········​<HPODisorderAssociati​on·​id="4755">44791 ··········​<HPODisorderAssociati​on·​id="435542">
45060 ············​<HPO·​id="1348">44792 ············​<HPO·​id="2227">
45061 ··············​<HPOId>HP:​0002671</​HPOId>44793 ··············​<HPOId>HP:​0001010</​HPOId>
45062 ··············​<HPOTerm>Basal·cell·carcinoma</​HPOTerm>44794 ··············​<HPOTerm>Hypopigmenta​tion·of·the·skin</​HPOTerm>
45063 ············​</​HPO>44795 ············​</​HPO>
45064 ············​<HPOFrequency·​id="28426">44796 ············​<HPOFrequency·​id="28419">
45065 ··············​<Name·​lang="en">Occasional·​(29-​5%)​</​Name>44797 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
45066 ············​</​HPOFrequency>44798 ············​</​HPOFrequency>
45067 ············​<DiagnosticCriteria/​>44799 ············​<DiagnosticCriteria/​>
45068 ··········​</​HPODisorderAssociatio​n>44800 ··········​</​HPODisorderAssociatio​n>
45069 ··········​<HPODisorderAssociati​on·​id="4756">44801 ··········​<HPODisorderAssociati​on·​id="435543">
45070 ············​<HPO·​id="1031">44802 ············​<HPO·​id="1347">
45071 ··············​<HPOId>HP:​0002861</​HPOId>44803 ··············​<HPOId>HP:​0001107</​HPOId>
45072 ··············​<HPOTerm>Melanoma</​HPOTerm>44804 ··············​<HPOTerm>Ocular·albinism</​HPOTerm>
45073 ············​</​HPO>44805 ············​</​HPO>
45074 ············​<HPOFrequency·​id="28426">44806 ············​<HPOFrequency·​id="28419">
45075 ··············​<Name·​lang="en">Occasional·​(29-​5%)​</​Name>44807 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
44808 ············​</​HPOFrequency>
44809 ············​<DiagnosticCriteria/​>
44810 ··········​</​HPODisorderAssociatio​n>
44811 ··········​<HPODisorderAssociati​on·​id="435544">
44812 ············​<HPO·​id="1119">
44813 ··············​<HPOId>HP:​0002226</​HPOId>
44814 ··············​<HPOTerm>White·​eyebrow</​HPOTerm>
44815 ············​</​HPO>
44816 ············​<HPOFrequency·​id="28419">
44817 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
44818 ············​</​HPOFrequency>
44819 ············​<DiagnosticCriteria/​>
44820 ··········​</​HPODisorderAssociatio​n>
44821 ··········​<HPODisorderAssociati​on·​id="435545">
44822 ············​<HPO·​id="1120">
44823 ··············​<HPOId>HP:​0002227</​HPOId>
44824 ··············​<HPOTerm>White·​eyelashes</​HPOTerm>
44825 ············​</​HPO>
44826 ············​<HPOFrequency·​id="28419">
44827 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
45076 ············​</​HPOFrequency>44828 ············​</​HPOFrequency>
45077 ············​<DiagnosticCriteria/​>44829 ············​<DiagnosticCriteria/​>
45078 ··········​</​HPODisorderAssociatio​n>44830 ··········​</​HPODisorderAssociatio​n>
45079 ··········​<HPODisorderAssociati​on·​id="4757">44831 ··········​<HPODisorderAssociati​on·​id="435546">
45080 ············​<HPO·​id="603">44832 ············​<HPO·​id="603">
45081 ··············​<HPOId>HP:​0005599</​HPOId>44833 ··············​<HPOId>HP:​0005599</​HPOId>
45082 ··············​<HPOTerm>Hypopigmenta​tion·​of·​hair</​HPOTerm>44834 ··············​<HPOTerm>Hypopigmenta​tion·​of·​hair</​HPOTerm>
45083 ············​</​HPO>44835 ············​</​HPO>
45084 ············​<HPOFrequency·​id="28412">44836 ············​<HPOFrequency·​id="28419">
45085 ··············​<Name·​lang="en">Very·frequent·​(99-​80%)​</​Name>44837 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
45086 ············​</​HPOFrequency>44838 ············​</​HPOFrequency>
45087 ············​<DiagnosticCriteria/​>44839 ············​<DiagnosticCriteria/​>
45088 ··········​</​HPODisorderAssociatio​n>44840 ··········​</​HPODisorderAssociatio​n>
45089 ··········​<HPODisorderAssociati​on·​id="4758">44841 ··········​<HPODisorderAssociati​on·​id="435547">
45090 ············​<HPO·​id="1349">44842 ············​<HPO·​id="1349">
45091 ··············​<HPOId>HP:​0006739</​HPOId>44843 ··············​<HPOId>HP:​0006739</​HPOId>
45092 ··············​<HPOTerm>Squamous·​cell·​carcinoma·​of·​the·​skin</​HPOTerm>44844 ··············​<HPOTerm>Squamous·​cell·​carcinoma·​of·​the·​skin</​HPOTerm>
45093 ············​</​HPO>44845 ············​</​HPO>
45094 ············​<HPOFrequency·​id="28426">44846 ············​<HPOFrequency·​id="28419">
45095 ··············​<Name·​lang="en">Occasional·​(29-​5%)​</​Name>44847 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
45096 ············​</​HPOFrequency>44848 ············​</​HPOFrequency>
45097 ············​<DiagnosticCriteria/​>44849 ············​<DiagnosticCriteria/​>
45098 ··········​</​HPODisorderAssociatio​n>44850 ··········​</​HPODisorderAssociatio​n>
45099 ··········​<HPODisorderAssociati​on·​id="4759">44851 ··········​<HPODisorderAssociati​on·​id="435548">
45100 ············​<HPO·​id="738">44852 ············​<HPO·​id="1216">
45101 ··············​<HPOId>HP:​0007513</​HPOId>44853 ··············​<HPOId>HP:​0011358</​HPOId>
45102 ··············​<HPOTerm>Generalized·​hypopigmentation</​HPOTerm>44854 ··············​<HPOTerm>Generalized·​hypopigmentation·of·hair</​HPOTerm>
45103 ············​</​HPO>44855 ············​</​HPO>
45104 ············​<HPOFrequency·​id="28412">44856 ············​<HPOFrequency·​id="28419">
45105 ··············​<Name·​lang="en">Very·frequent·​(99-​80%)​</​Name>44857 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
45106 ············​</​HPOFrequency>44858 ············​</​HPOFrequency>
45107 ············​<DiagnosticCriteria/​>44859 ············​<DiagnosticCriteria/​>
45108 ··········​</​HPODisorderAssociatio​n>44860 ··········​</​HPODisorderAssociatio​n>
45109 ··········​<HPODisorderAssociati​on·​id="4760">44861 ··········​<HPODisorderAssociati​on·​id="435549">
45110 ············​<HPO·​id="1215">44862 ············​<HPO·​id="1123">
45111 ··············​<HPOId>HP:​0007730</​HPOId>44863 ··············​<HPOId>HP:​0011364</​HPOId>
45112 ··············​<HPOTerm>Iris·hypopigmentation</​HPOTerm>44864 ··············​<HPOTerm>White·hair</​HPOTerm>
45113 ············​</​HPO>44865 ············​</​HPO>
45114 ············​<HPOFrequency·​id="28412">44866 ············​<HPOFrequency·​id="28419">
45115 ··············​<Name·​lang="en">Very·frequent·​(99-​80%)​</​Name>44867 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
45116 ············​</​HPOFrequency>44868 ············​</​HPOFrequency>
45117 ············​<DiagnosticCriteria/​>44869 ············​<DiagnosticCriteria/​>
45118 ··········​</​HPODisorderAssociatio​n>44870 ··········​</​HPODisorderAssociatio​n>
45119 ··········​<HPODisorderAssociati​on·​id="4761">44871 ··········​<HPODisorderAssociati​on·​id="435550">
45120 ············​<HPO·​id="1350">44872 ············​<HPO·​id="7676">
45121 ··············​<HPOId>HP:​0007750</​HPOId>44873 ··············​<HPOId>HP:​0200098</​HPOId>
45122 ··············​<HPOTerm>Hypoplasia·of·the·fovea</​HPOTerm>44874 ··············​<HPOTerm>Absent·skin·pigmentation</​HPOTerm>
45123 ············​</​HPO>44875 ············​</​HPO>
45124 ············​<HPOFrequency·​id="28419">44876 ············​<HPOFrequency·​id="28419">
45125 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>44877 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
45126 ············​</​HPOFrequency>44878 ············​</​HPOFrequency>
45127 ············​<DiagnosticCriteria/​>44879 ············​<DiagnosticCriteria/​>
45128 ··········​</​HPODisorderAssociatio​n>44880 ··········​</​HPODisorderAssociatio​n>
45129 ··········​<HPODisorderAssociati​on·​id="4762">44881 ··········​<HPODisorderAssociati​on·​id="435551">
45130 ············​<HPO·​id="901">44882 ············​<HPO·​id="3075">
45131 ··············​<HPOId>HP:​0008499</​HPOId>44883 ··············​<HPOId>HP:​0002297</​HPOId>
45132 ··············​<HPOTerm>High·​hypermetropia</​HPOTerm>44884 ··············​<HPOTerm>Red·​hair</​HPOTerm>
45133 ············​</​HPO>44885 ············​</​HPO>
45134 ············​<HPOFrequency·​id="28419">44886 ············​<HPOFrequency·​id="28426">
45135 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>44887 ··············​<Name·​lang="en">Occasional·​(29-​5%)​</​Name>
45136 ············​</​HPOFrequency>44888 ············​</​HPOFrequency>
45137 ············​<DiagnosticCriteria/​>44889 ············​<DiagnosticCriteria/​>
45138 ··········​</​HPODisorderAssociatio​n>44890 ··········​</​HPODisorderAssociatio​n>
45139 ··········​<HPODisorderAssociati​on·​id="4763">44891 ··········​<HPODisorderAssociati​on·​id="435552">
45140 ············​<HPO·​id="1123">44892 ············​<HPO·​id="1348">
45141 ··············​<HPOId>HP:​0011364</​HPOId>44893 ··············​<HPOId>HP:​0002671</​HPOId>
45142 ··············​<HPOTerm>White·hair</​HPOTerm>44894 ··············​<HPOTerm>Basal·cell·carcinoma</​HPOTerm>
45143 ············​</​HPO>44895 ············​</​HPO>
45144 ············​<HPOFrequency·​id="28412">44896 ············​<HPOFrequency·​id="28426">
45145 ··············​<Name·​lang="en">Very·frequent·​(99-​80%)​</​Name>44897 ··············​<Name·​lang="en">Occasional·​(29-​5%)​</​Name>
44898 ············​</​HPOFrequency>
44899 ············​<DiagnosticCriteria/​>
44900 ··········​</​HPODisorderAssociatio​n>
44901 ··········​<HPODisorderAssociati​on·​id="435553">
44902 ············​<HPO·​id="650">
44903 ··············​<HPOId>HP:​0000612</​HPOId>
44904 ··············​<HPOTerm>Iris·​coloboma</​HPOTerm>
44905 ············​</​HPO>
44906 ············​<HPOFrequency·​id="28433">
44907 ··············​<Name·​lang="en">Very·​rare·​(&lt;​4-​1%)​</​Name>
44908 ············​</​HPOFrequency>
44909 ············​<DiagnosticCriteria/​>
44910 ··········​</​HPODisorderAssociatio​n>
44911 ··········​<HPODisorderAssociati​on·​id="435554">
44912 ············​<HPO·​id="1411">
44913 ··············​<HPOId>HP:​0012056</​HPOId>
44914 ··············​<HPOTerm>Cutaneous·​melanoma</​HPOTerm>
44915 ············​</​HPO>
44916 ············​<HPOFrequency·​id="28433">
44917 ··············​<Name·​lang="en">Very·​rare·​(&lt;​4-​1%)​</​Name>
45146 ············​</​HPOFrequency>44918 ············​</​HPOFrequency>
45147 ············​<DiagnosticCriteria/​>44919 ············​<DiagnosticCriteria/​>
45148 ··········​</​HPODisorderAssociatio​n>44920 ··········​</​HPODisorderAssociatio​n>
45149 ········​</​HPODisorderAssociatio​nList>44921 ········​</​HPODisorderAssociatio​nList>
45150 ······​</​Disorder>44922 ······​</​Disorder>
45151 ······​<Source/​>44923 ······​<Source>27350326[PMID​]_31196117[PLMID]_250​93188[PMID]_29374654[​PMID]_30996339[PLMID]​</​Source>
45152 ······​<ValidationStatus>y</​ValidationStatus>44924 ······​<ValidationStatus>y</​ValidationStatus>
45153 ······​<Online>y</​Online>44925 ······​<Online>y</​Online>
45154 ······​<ValidationDate>2016-​06-​01·​00:​00:​00.​0</​ValidationDate>44926 ······​<ValidationDate>2021-​01-​11·​00:​00:​00.​0</​ValidationDate>
45155 ····​</​HPODisorderSetStatus>​44927 ····​</​HPODisorderSetStatus>​
45156 ····​<HPODisorderSetStatus​·​id="148">44928 ····​<HPODisorderSetStatus​·​id="148">
45157 ······​<Disorder·​id="313">44929 ······​<Disorder·​id="313">
47610 ······​<Online>y</​Online>47382 ······​<Online>y</​Online>
47611 ······​<ValidationDate>2016-​06-​01·​00:​00:​00.​0</​ValidationDate>47383 ······​<ValidationDate>2016-​06-​01·​00:​00:​00.​0</​ValidationDate>
47612 ····​</​HPODisorderSetStatus>​47384 ····​</​HPODisorderSetStatus>​
47613 ····​<HPODisorderSetStatus​·​id="163">
47614 ······​<Disorder·​id="355">
47615 ········​<OrphaCode>352</​OrphaCode>
47616 ········​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=352</​ExpertLink>
47617 ········​<Name·​lang="en">Galactosemi​a</​Name>
47618 ········​<DisorderType·​id="36561">
47619 ··········​<Name·​lang="en">Category</​Name>
47620 ········​</​DisorderType>
47621 ········​<DisorderGroup·​id="36540">
47622 ··········​<Name·​lang="en">Group·​of·​disorders</​Name>
47623 ········​</​DisorderGroup>
47624 ········​<HPODisorderAssociati​onList·​count="32">
47625 ··········​<HPODisorderAssociati​on·​id="5218">
47626 ············​<HPO·​id="469">
47627 ··············​<HPOId>HP:​0000044</​HPOId>
47628 ··············​<HPOTerm>Hypogonadotr​ophic·​hypogonadism</​HPOTerm>
47629 ············​</​HPO>
47630 ············​<HPOFrequency·​id="28426">
47631 ··············​<Name·​lang="en">Occasional·​(29-​5%)​</​Name>
47632 ············​</​HPOFrequency>
47633 ············​<DiagnosticCriteria/​>
47634 ··········​</​HPODisorderAssociatio​n>
47635 ··········​<HPODisorderAssociati​on·​id="5219">
47636 ············​<HPO·​id="202">
47637 ··············​<HPOId>HP:​0000083</​HPOId>
47638 ··············​<HPOTerm>Renal·​insufficiency</​HPOTerm>
47639 ············​</​HPO>
47640 ············​<HPOFrequency·​id="28426">
47641 ··············​<Name·​lang="en">Occasional·​(29-​5%)​</​Name>
47642 ············​</​HPOFrequency>
47643 ············​<DiagnosticCriteria/​>
47644 ··········​</​HPODisorderAssociatio​n>
47645 ··········​<HPODisorderAssociati​on·​id="5220">
47646 ············​<HPO·​id="123">
47647 ··············​<HPOId>HP:​0000252</​HPOId>
47648 ··············​<HPOTerm>Microcephaly​</​HPOTerm>
47649 ············​</​HPO>
47650 ············​<HPOFrequency·​id="28426">
47651 ··············​<Name·​lang="en">Occasional·​(29-​5%)​</​Name>
47652 ············​</​HPOFrequency>
47653 ············​<DiagnosticCriteria/​>
47654 ··········​</​HPODisorderAssociatio​n>
47655 ··········​<HPODisorderAssociati​on·​id="5221">
47656 ············​<HPO·​id="127">
47657 ··············​<HPOId>HP:​0000505</​HPOId>
47658 ··············​<HPOTerm>Visual·​impairment</​HPOTerm>
47659 ············​</​HPO>
47660 ············​<HPOFrequency·​id="28426">
47661 ··············​<Name·​lang="en">Occasional·​(29-​5%)​</​Name>
47662 ············​</​HPOFrequency>
47663 ············​<DiagnosticCriteria/​>
47664 ··········​</​HPODisorderAssociatio​n>
47665 ··········​<HPODisorderAssociati​on·​id="5222">
47666 ············​<HPO·​id="74">
47667 ··············​<HPOId>HP:​0000518</​HPOId>
47668 ··············​<HPOTerm>Cataract</​HPOTerm>
47669 ············​</​HPO>
47670 ············​<HPOFrequency·​id="28419">
47671 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
47672 ············​</​HPOFrequency>
47673 ············​<DiagnosticCriteria/​>
47674 ··········​</​HPODisorderAssociatio​n>
47675 ··········​<HPODisorderAssociati​on·​id="5223">
47676 ············​<HPO·​id="155">
47677 ··············​<HPOId>HP:​0000939</​HPOId>
47678 ··············​<HPOTerm>Osteoporosis​</​HPOTerm>
47679 ············​</​HPO>
47680 ············​<HPOFrequency·​id="28412">
47681 ··············​<Name·​lang="en">Very·​frequent·​(99-​80%)​</​Name>
47682 ············​</​HPOFrequency>
47683 ············​<DiagnosticCriteria/​>
47684 ··········​</​HPODisorderAssociatio​n>
47685 ··········​<HPODisorderAssociati​on·​id="5224">
47686 ············​<HPO·​id="346">
47687 ··············​<HPOId>HP:​0000952</​HPOId>
47688 ··············​<HPOTerm>Jaundice</​HPOTerm>
47689 ············​</​HPO>
47690 ············​<HPOFrequency·​id="28412">
47691 ··············​<Name·​lang="en">Very·​frequent·​(99-​80%)​</​Name>
47692 ············​</​HPOFrequency>
47693 ············​<DiagnosticCriteria/​>
47694 ··········​</​HPODisorderAssociatio​n>
47695 ··········​<HPODisorderAssociati​on·​id="5225">
47696 ············​<HPO·​id="18">
47697 ··············​<HPOId>HP:​0001249</​HPOId>
47698 ··············​<HPOTerm>Intellectual​·​disability</​HPOTerm>
47699 ············​</​HPO>
47700 ············​<HPOFrequency·​id="28412">
47701 ··············​<Name·​lang="en">Very·​frequent·​(99-​80%)​</​Name>
47702 ············​</​HPOFrequency>
47703 ············​<DiagnosticCriteria/​>
47704 ··········​</​HPODisorderAssociatio​n>
47705 ··········​<HPODisorderAssociati​on·​id="5226">
47706 ············​<HPO·​id="19">
47707 ··············​<HPOId>HP:​0001250</​HPOId>
47708 ··············​<HPOTerm>Seizures</​HPOTerm>
47709 ············​</​HPO>
47710 ············​<HPOFrequency·​id="28426">
47711 ··············​<Name·​lang="en">Occasional·​(29-​5%)​</​Name>
47712 ············​</​HPOFrequency>
47713 ············​<DiagnosticCriteria/​>
47714 ··········​</​HPODisorderAssociatio​n>
47715 ··········​<HPODisorderAssociati​on·​id="5227">
47716 ············​<HPO·​id="20">
47717 ··············​<HPOId>HP:​0001251</​HPOId>
47718 ··············​<HPOTerm>Ataxia</​HPOTerm>
47719 ············​</​HPO>
47720 ············​<HPOFrequency·​id="28426">
47721 ··············​<Name·​lang="en">Occasional·​(29-​5%)​</​Name>
47722 ············​</​HPOFrequency>
47723 ············​<DiagnosticCriteria/​>
47724 ··········​</​HPODisorderAssociatio​n>
47725 ··········​<HPODisorderAssociati​on·​id="5228">
47726 ············​<HPO·​id="21">
47727 ··············​<HPOId>HP:​0001252</​HPOId>
47728 ··············​<HPOTerm>Muscular·​hypotonia</​HPOTerm>
47729 ············​</​HPO>
47730 ············​<HPOFrequency·​id="28419">
47731 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
47732 ············​</​HPOFrequency>
47733 ············​<DiagnosticCriteria/​>
47734 ··········​</​HPODisorderAssociatio​n>
47735 ··········​<HPODisorderAssociati​on·​id="5229">
47736 ············​<HPO·​id="1192">
47737 ··············​<HPOId>HP:​0001254</​HPOId>
47738 ··············​<HPOTerm>Lethargy</​HPOTerm>
47739 ············​</​HPO>
47740 ············​<HPOFrequency·​id="28412">
47741 ··············​<Name·​lang="en">Very·​frequent·​(99-​80%)​</​Name>
47742 ············​</​HPOFrequency>
47743 ············​<DiagnosticCriteria/​>
47744 ··········​</​HPODisorderAssociatio​n>
47745 ··········​<HPODisorderAssociati​on·​id="5230">
47746 ············​<HPO·​id="23">
47747 ··············​<HPOId>HP:​0001260</​HPOId>
47748 ··············​<HPOTerm>Dysarthria</​HPOTerm>
47749 ············​</​HPO>
47750 ············​<HPOFrequency·​id="28426">
47751 ··············​<Name·​lang="en">Occasional·​(29-​5%)​</​Name>
47752 ············​</​HPOFrequency>
47753 ············​<DiagnosticCriteria/​>
47754 ··········​</​HPODisorderAssociatio​n>
47755 ··········​<HPODisorderAssociati​on·​id="5231">
47756 ············​<HPO·​id="79">
47757 ··············​<HPOId>HP:​0001263</​HPOId>
47758 ··············​<HPOTerm>Global·​developmental·​delay</​HPOTerm>
47759 ············​</​HPO>
47760 ············​<HPOFrequency·​id="28412">
47761 ··············​<Name·​lang="en">Very·​frequent·​(99-​80%)​</​Name>
47762 ············​</​HPOFrequency>
47763 ············​<DiagnosticCriteria/​>
47764 ··········​</​HPODisorderAssociatio​n>
47765 ··········​<HPODisorderAssociati​on·​id="5232">
47766 ············​<HPO·​id="27">
47767 ··············​<HPOId>HP:​0001337</​HPOId>
47768 ··············​<HPOTerm>Tremor</​HPOTerm>
47769 ············​</​HPO>
47770 ············​<HPOFrequency·​id="28419">
47771 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
47772 ············​</​HPOFrequency>
47773 ············​<DiagnosticCriteria/​>
47774 ··········​</​HPODisorderAssociatio​n>
47775 ··········​<HPODisorderAssociati​on·​id="5233">
47776 ············​<HPO·​id="970">
47777 ··············​<HPOId>HP:​0001399</​HPOId>
47778 ··············​<HPOTerm>Hepatic·​failure</​HPOTerm>
47779 ············​</​HPO>
47780 ············​<HPOFrequency·​id="28412">
47781 ··············​<Name·​lang="en">Very·​frequent·​(99-​80%)​</​Name>
47782 ············​</​HPOFrequency>
47783 ············​<DiagnosticCriteria/​>
47784 ··········​</​HPODisorderAssociatio​n>
47785 ··········​<HPODisorderAssociati​on·​id="5234">
47786 ············​<HPO·​id="1377">
47787 ··············​<HPOId>HP:​0001510</​HPOId>
47788 ··············​<HPOTerm>Growth·​delay</​HPOTerm>
47789 ············​</​HPO>
47790 ············​<HPOFrequency·​id="28419">
47791 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
47792 ············​</​HPOFrequency>
47793 ············​<DiagnosticCriteria/​>
47794 ··········​</​HPODisorderAssociatio​n>
47795 ··········​<HPODisorderAssociati​on·​id="5235">
47796 ············​<HPO·​id="876">
47797 ··············​<HPOId>HP:​0001531</​HPOId>
47798 ··············​<HPOTerm>Failure·​to·​thrive·​in·​infancy</​HPOTerm>
47799 ············​</​HPO>
47800 ············​<HPOFrequency·​id="28412">
47801 ··············​<Name·​lang="en">Very·​frequent·​(99-​80%)​</​Name>
47802 ············​</​HPOFrequency>
47803 ············​<DiagnosticCriteria/​>
47804 ··········​</​HPODisorderAssociatio​n>
47805 ··········​<HPODisorderAssociati​on·​id="5236">
47806 ············​<HPO·​id="260">
47807 ··············​<HPOId>HP:​0001541</​HPOId>
47808 ··············​<HPOTerm>Ascites</​HPOTerm>
47809 ············​</​HPO>
47810 ············​<HPOFrequency·​id="28419">
47811 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
47812 ············​</​HPOFrequency>
47813 ············​<DiagnosticCriteria/​>
47814 ··········​</​HPODisorderAssociatio​n>
47815 ··········​<HPODisorderAssociati​on·​id="5237">
47816 ············​<HPO·​id="695">
47817 ··············​<HPOId>HP:​0001608</​HPOId>
47818 ··············​<HPOTerm>Abnormality·​of·​the·​voice</​HPOTerm>
47819 ············​</​HPO>
47820 ············​<HPOFrequency·​id="28419">
47821 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
47822 ············​</​HPOFrequency>
47823 ············​<DiagnosticCriteria/​>
47824 ··········​</​HPODisorderAssociatio​n>
47825 ··········​<HPODisorderAssociati​on·​id="5238">
47826 ············​<HPO·​id="463">
47827 ··············​<HPOId>HP:​0001878</​HPOId>
47828 ··············​<HPOTerm>Hemolytic·​anemia</​HPOTerm>
47829 ············​</​HPO>
47830 ············​<HPOFrequency·​id="28426">
47831 ··············​<Name·​lang="en">Occasional·​(29-​5%)​</​Name>
47832 ············​</​HPOFrequency>
47833 ············​<DiagnosticCriteria/​>
47834 ··········​</​HPODisorderAssociatio​n>
47835 ··········​<HPODisorderAssociati​on·​id="5239">
47836 ············​<HPO·​id="1055">
47837 ··············​<HPOId>HP:​0001928</​HPOId>
47838 ··············​<HPOTerm>Abnormality·​of·​coagulation</​HPOTerm>
47839 ············​</​HPO>
47840 ············​<HPOFrequency·​id="28419">
47841 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
47842 ············​</​HPOFrequency>
47843 ············​<DiagnosticCriteria/​>
47844 ··········​</​HPODisorderAssociatio​n>
47845 ··········​<HPODisorderAssociati​on·​id="5240">
47846 ············​<HPO·​id="247">
47847 ··············​<HPOId>HP:​0001939</​HPOId>
47848 ··············​<HPOTerm>Abnormality·​of·​metabolism/​homeostasis</​HPOTerm>
47849 ············​</​HPO>
47850 ············​<HPOFrequency·​id="28412">
47851 ··············​<Name·​lang="en">Very·​frequent·​(99-​80%)​</​Name>
47852 ············​</​HPOFrequency>
47853 ············​<DiagnosticCriteria/​>
47854 ··········​</​HPODisorderAssociatio​n>
47855 ··········​<HPODisorderAssociati​on·​id="5241">
47856 ············​<HPO·​id="256">
47857 ··············​<HPOId>HP:​0001943</​HPOId>
47858 ··············​<HPOTerm>Hypoglycemia​</​HPOTerm>
47859 ············​</​HPO>
47860 ············​<HPOFrequency·​id="28426">
47861 ··············​<Name·​lang="en">Occasional·​(29-​5%)​</​Name>
47862 ············​</​HPOFrequency>
47863 ············​<DiagnosticCriteria/​>
47864 ··········​</​HPODisorderAssociatio​n>
47865 ··········​<HPODisorderAssociati​on·​id="5242">
47866 ············​<HPO·​id="35">
47867 ··············​<HPOId>HP:​0002017</​HPOId>
47868 ··············​<HPOTerm>Nausea·​and·​vomiting</​HPOTerm>
47869 ············​</​HPO>
47870 ············​<HPOFrequency·​id="28412">
47871 ··············​<Name·​lang="en">Very·​frequent·​(99-​80%)​</​Name>
47872 ············​</​HPOFrequency>
47873 ············​<DiagnosticCriteria/​>
47874 ··········​</​HPODisorderAssociatio​n>
47875 ··········​<HPODisorderAssociati​on·​id="5243">
47876 ············​<HPO·​id="40">
47877 ··············​<HPOId>HP:​0002167</​HPOId>
47878 ··············​<HPOTerm>Neurological​·​speech·​impairment</​HPOTerm>
47879 ············​</​HPO>
47880 ············​<HPOFrequency·​id="28419">
47881 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
47882 ············​</​HPOFrequency>
47883 ············​<DiagnosticCriteria/​>
47884 ··········​</​HPODisorderAssociatio​n>
47885 ··········​<HPODisorderAssociati​on·​id="5244">
47886 ············​<HPO·​id="84">
47887 ··············​<HPOId>HP:​0002240</​HPOId>
47888 ··············​<HPOTerm>Hepatomegaly​</​HPOTerm>
47889 ············​</​HPO>
47890 ············​<HPOFrequency·​id="28419">
47891 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
47892 ············​</​HPOFrequency>
47893 ············​<DiagnosticCriteria/​>
47894 ··········​</​HPODisorderAssociatio​n>
47895 ··········​<HPODisorderAssociati​on·​id="5245">
47896 ············​<HPO·​id="147">
47897 ··············​<HPOId>HP:​0008872</​HPOId>
47898 ··············​<HPOTerm>Feeding·​difficulties·​in·​infancy</​HPOTerm>
47899 ············​</​HPO>
47900 ············​<HPOFrequency·​id="28412">
47901 ··············​<Name·​lang="en">Very·​frequent·​(99-​80%)​</​Name>
47902 ············​</​HPOFrequency>
47903 ············​<DiagnosticCriteria/​>
47904 ··········​</​HPODisorderAssociatio​n>
47905 ··········​<HPODisorderAssociati​on·​id="5246">
47906 ············​<HPO·​id="770">
47907 ··············​<HPOId>HP:​0010741</​HPOId>
47908 ··············​<HPOTerm>Pedal·​edema</​HPOTerm>
47909 ············​</​HPO>
47910 ············​<HPOFrequency·​id="28419">
47911 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
47912 ············​</​HPOFrequency>
47913 ············​<DiagnosticCriteria/​>
47914 ··········​</​HPODisorderAssociatio​n>
47915 ··········​<HPODisorderAssociati​on·​id="5247">
47916 ············​<HPO·​id="1390">
47917 ··············​<HPOId>HP:​0011098</​HPOId>
47918 ··············​<HPOTerm>Speech·​apraxia</​HPOTerm>
47919 ············​</​HPO>
47920 ············​<HPOFrequency·​id="28426">
47921 ··············​<Name·​lang="en">Occasional·​(29-​5%)​</​Name>
47922 ············​</​HPOFrequency>
47923 ············​<DiagnosticCriteria/​>
47924 ··········​</​HPODisorderAssociatio​n>
47925 ··········​<HPODisorderAssociati​on·​id="5248">
47926 ············​<HPO·​id="148">
47927 ··············​<HPOId>HP:​0100543</​HPOId>
47928 ··············​<HPOTerm>Cognitive·​impairment</​HPOTerm>
47929 ············​</​HPO>
47930 ············​<HPOFrequency·​id="28412">
47931 ··············​<Name·​lang="en">Very·​frequent·​(99-​80%)​</​Name>
47932 ············​</​HPOFrequency>
47933 ············​<DiagnosticCriteria/​>
47934 ··········​</​HPODisorderAssociatio​n>
47935 ··········​<HPODisorderAssociati​on·​id="5249">
47936 ············​<HPO·​id="843">
47937 ··············​<HPOId>HP:​0100806</​HPOId>
47938 ··············​<HPOTerm>Sepsis</​HPOTerm>
47939 ············​</​HPO>
47940 ············​<HPOFrequency·​id="28419">
47941 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
47942 ············​</​HPOFrequency>
47943 ············​<DiagnosticCriteria/​>
47944 ··········​</​HPODisorderAssociatio​n>
47945 ········​</​HPODisorderAssociatio​nList>
47946 ······​</​Disorder>
47947 ······​<Source/​>
47948 ······​<ValidationStatus>y</​ValidationStatus>
47949 ······​<Online>y</​Online>
47950 ······​<ValidationDate>2016-​06-​01·​00:​00:​00.​0</​ValidationDate>
47951 ····​</​HPODisorderSetStatus>​
47952 ····​<HPODisorderSetStatus​·​id="162">47385 ····​<HPODisorderSetStatus​·​id="162">
47953 ······​<Disorder·​id="353">47386 ······​<Disorder·​id="353">
47954 ········​<OrphaCode>1947</​OrphaCode>47387 ········​<OrphaCode>1947</​OrphaCode>
49793 ······​<Online>y</​Online>49226 ······​<Online>y</​Online>
49794 ······​<ValidationDate>2016-​06-​01·​00:​00:​00.​0</​ValidationDate>49227 ······​<ValidationDate>2016-​06-​01·​00:​00:​00.​0</​ValidationDate>
49795 ····​</​HPODisorderSetStatus>​49228 ····​</​HPODisorderSetStatus>​
49796 ····​<HPODisorderSetStatus​·​id="164">
49797 ······​<Disorder·​id="357">
49798 ········​<OrphaCode>370</​OrphaCode>
49799 ········​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=370</​ExpertLink>
49800 ········​<Name·​lang="en">Glycogen·​storage·​disease·​due·​to·​phosphorylase·​kinase·​deficiency</​Name>
49801 ········​<DisorderType·​id="21436">
49802 ··········​<Name·​lang="en">Clinical·​group</​Name>
49803 ········​</​DisorderType>
49804 ········​<DisorderGroup·​id="36540">
49805 ··········​<Name·​lang="en">Group·​of·​disorders</​Name>
49806 ········​</​DisorderGroup>
49807 ········​<HPODisorderAssociati​onList·​count="5">
49808 ··········​<HPODisorderAssociati​on·​id="5250">
49809 ············​<HPO·​id="1377">
49810 ··············​<HPOId>HP:​0001510</​HPOId>
49811 ··············​<HPOTerm>Growth·​delay</​HPOTerm>
49812 ············​</​HPO>
49813 ············​<HPOFrequency·​id="28419">
49814 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
49815 ············​</​HPOFrequency>
49816 ············​<DiagnosticCriteria/​>
49817 ··········​</​HPODisorderAssociatio​n>
49818 ··········​<HPODisorderAssociati​on·​id="5251">
49819 ············​<HPO·​id="256">
49820 ··············​<HPOId>HP:​0001943</​HPOId>
49821 ··············​<HPOTerm>Hypoglycemia​</​HPOTerm>
49822 ············​</​HPO>
49823 ············​<HPOFrequency·​id="28412">
49824 ··············​<Name·​lang="en">Very·​frequent·​(99-​80%)​</​Name>
49825 ············​</​HPOFrequency>
49826 ············​<DiagnosticCriteria/​>
49827 ··········​</​HPODisorderAssociatio​n>
49828 ··········​<HPODisorderAssociati​on·​id="5252">
49829 ············​<HPO·​id="565">
49830 ··············​<HPOId>HP:​0003119</​HPOId>
49831 ··············​<HPOTerm>Abnormality·​of·​lipid·​metabolism</​HPOTerm>
49832 ············​</​HPO>
49833 ············​<HPOFrequency·​id="28419">
49834 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
49835 ············​</​HPOFrequency>
49836 ············​<DiagnosticCriteria/​>
49837 ··········​</​HPODisorderAssociatio​n>
49838 ··········​<HPODisorderAssociati​on·​id="5253">
49839 ············​<HPO·​id="133">
49840 ··············​<HPOId>HP:​0004322</​HPOId>
49841 ··············​<HPOTerm>Short·​stature</​HPOTerm>
49842 ············​</​HPO>
49843 ············​<HPOFrequency·​id="28412">
49844 ··············​<Name·​lang="en">Very·​frequent·​(99-​80%)​</​Name>
49845 ············​</​HPOFrequency>
49846 ············​<DiagnosticCriteria/​>
49847 ··········​</​HPODisorderAssociatio​n>
49848 ··········​<HPODisorderAssociati​on·​id="5254">
49849 ············​<HPO·​id="148">
49850 ··············​<HPOId>HP:​0100543</​HPOId>
49851 ··············​<HPOTerm>Cognitive·​impairment</​HPOTerm>
49852 ············​</​HPO>
49853 ············​<HPOFrequency·​id="28419">
49854 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
49855 ············​</​HPOFrequency>
49856 ············​<DiagnosticCriteria/​>
49857 ··········​</​HPODisorderAssociatio​n>
49858 ········​</​HPODisorderAssociatio​nList>
49859 ······​</​Disorder>
49860 ······​<Source/​>
49861 ······​<ValidationStatus>y</​ValidationStatus>
49862 ······​<Online>y</​Online>
49863 ······​<ValidationDate>2016-​06-​01·​00:​00:​00.​0</​ValidationDate>
49864 ····​</​HPODisorderSetStatus>​
49865 ····​<HPODisorderSetStatus​·​id="186">49229 ····​<HPODisorderSetStatus​·​id="186">
49866 ······​<Disorder·​id="404">49230 ······​<Disorder·​id="404">
49867 ········​<OrphaCode>30</​OrphaCode>49231 ········​<OrphaCode>30</​OrphaCode>
60367 ······​<Disorder·​id="485">59731 ······​<Disorder·​id="485">
60368 ········​<OrphaCode>1880</​OrphaCode>59732 ········​<OrphaCode>1880</​OrphaCode>
60369 ········​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=1880</​ExpertLink>59733 ········​<ExpertLink·​lang="en">http:​/​/​www.​orpha.​net/​consor/​cgi-​bin/​OC_Exp.​php?lng=en&amp;​Expert=1880</​ExpertLink>
60370 ········​<Name·​lang="en">Ebstein·​malformation</​Name>59734 ········​<Name·​lang="en">Ebstein·​malformation·of·the·tricuspid·valve</​Name>
60371 ········​<DisorderType·​id="21415">59735 ········​<DisorderType·​id="21415">
60372 ··········​<Name·​lang="en">Morphologic​al·​anomaly</​Name>59736 ··········​<Name·​lang="en">Morphologic​al·​anomaly</​Name>
60373 ········​</​DisorderType>59737 ········​</​DisorderType>
64252 ········​<DisorderGroup·​id="36540">63616 ········​<DisorderGroup·​id="36540">
64253 ··········​<Name·​lang="en">Group·​of·​disorders</​Name>63617 ··········​<Name·​lang="en">Group·​of·​disorders</​Name>
64254 ········​</​DisorderGroup>63618 ········​</​DisorderGroup>
64255 ········​<HPODisorderAssociati​onList·​count="18">63619 ········​<HPODisorderAssociati​onList·​count="26">
64256 ··········​<HPODisorderAssociati​on·​id="6490">63620 ··········​<HPODisorderAssociati​on·​id="438653">
64257 ············​<HPO·​id="328">63621 ············​<HPO·​id="1787">
64258 ··············​<HPOId>HP:​0000364</​HPOId>63622 ··············​<HPOId>HP:​0000707</​HPOId>
64259 ··············​<HPOTerm>Hearing·abnormality</​HPOTerm>63623 ··············​<HPOTerm>Abnormality·of·the·nervous·system</​HPOTerm>
64260 ············​</​HPO>63624 ············​</​HPO>
64261 ············​<HPOFrequency·​id="28412">63625 ············​<HPOFrequency·​id="28412">
64262 ··············​<Name·​lang="en">Very·​frequent·​(99-​80%)​</​Name>63626 ··············​<Name·​lang="en">Very·​frequent·​(99-​80%)​</​Name>
64263 ············​</​HPOFrequency>63627 ············​</​HPOFrequency>
64264 ············​<DiagnosticCriteria/​>63628 ············​<DiagnosticCriteria/​>
64265 ··········​</​HPODisorderAssociatio​n>63629 ··········​</​HPODisorderAssociatio​n>
64266 ··········​<HPODisorderAssociati​on·​id="6491">63630 ··········​<HPODisorderAssociati​on·​id="438654">
64267 ············​<HPO·​id="71">63631 ············​<HPO·​id="971">
64268 ··············​<HPOId>HP:​0000365</​HPOId>63632 ··············​<HPOId>HP:​0001987</​HPOId>
64269 ··············​<HPOTerm>Hearing·impairment</​HPOTerm>63633 ··············​<HPOTerm>Hyperammonem​ia</​HPOTerm>
64270 ············​</​HPO>63634 ············​</​HPO>
64271 ············​<HPOFrequency·​id="28412">63635 ············​<HPOFrequency·​id="28412">
64272 ··············​<Name·​lang="en">Very·​frequent·​(99-​80%)​</​Name>63636 ··············​<Name·​lang="en">Very·​frequent·​(99-​80%)​</​Name>
64273 ············​</​HPOFrequency>63637 ············​</​HPOFrequency>
64274 ············​<DiagnosticCriteria/​>63638 ············​<DiagnosticCriteria/​>
64275 ··········​</​HPODisorderAssociatio​n>63639 ··········​</​HPODisorderAssociatio​n>
64276 ··········​<HPODisorderAssociati​on·​id="6492">63640 ··········​<HPODisorderAssociati​on·​id="438655">
64277 ············​<HPO·​id="223">63641 ············​<HPO·​id="2701">
64278 ··············​<HPOId>HP:​0000478</​HPOId>63642 ··············​<HPOId>HP:​0001992</​HPOId>
64279 ··············​<HPOTerm>Abnormality·of·the·eye</​HPOTerm>63643 ··············​<HPOTerm>Organic·aciduria</​HPOTerm>
64280 ············​</​HPO>63644 ············​</​HPO>
64281 ············​<HPOFrequency·​id="28419">63645 ············​<HPOFrequency·​id="28412">
64282 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>63646 ··············​<Name·​lang="en">Very·frequent·​(99-​80%)​</​Name>
64283 ············​</​HPOFrequency>63647 ············​</​HPOFrequency>
64284 ············​<DiagnosticCriteria/​>63648 ············​<DiagnosticCriteria/​>
64285 ··········​</​HPODisorderAssociatio​n>63649 ··········​</​HPODisorderAssociatio​n>
64286 ··········​<HPODisorderAssociati​on·​id="6493">63650 ··········​<HPODisorderAssociati​on·​id="438656">
64287 ············​<HPO·​id="224">63651 ············​<HPO·​id="3057">
64288 ··············​<HPOId>HP:​0000504</​HPOId>63652 ··············​<HPOId>HP:​0005979</​HPOId>
64289 ··············​<HPOTerm>Abnormality·of·vision</​HPOTerm>63653 ··············​<HPOTerm>Metabolic·ketoacidosis</​HPOTerm>
64290 ············​</​HPO>63654 ············​</​HPO>
64291 ············​<HPOFrequency·​id="28419">63655 ············​<HPOFrequency·​id="28412">
64292 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>63656 ··············​<Name·​lang="en">Very·frequent·​(99-​80%)​</​Name>
63657 ············​</​HPOFrequency>
63658 ············​<DiagnosticCriteria/​>
63659 ··········​</​HPODisorderAssociatio​n>
63660 ··········​<HPODisorderAssociati​on·​id="438657">
63661 ············​<HPO·​id="4576">
63662 ··············​<HPOId>HP:​0012379</​HPOId>
63663 ··············​<HPOTerm>Abnormal·​enzyme/​coenzyme·​activity</​HPOTerm>
63664 ············​</​HPO>
63665 ············​<HPOFrequency·​id="28412">
63666 ··············​<Name·​lang="en">Very·​frequent·​(99-​80%)​</​Name>
64293 ············​</​HPOFrequency>63667 ············​</​HPOFrequency>
64294 ············​<DiagnosticCriteria/​>63668 ············​<DiagnosticCriteria/​>
64295 ··········​</​HPODisorderAssociatio​n>63669 ··········​</​HPODisorderAssociatio​n>
64296 ··········​<HPODisorderAssociati​on·​id="6494">63670 ··········​<HPODisorderAssociati​on·​id="438658">
64297 ············​<HPO·​id="156">63671 ············​<HPO·​id="156">
64298 ··············​<HPOId>HP:​0000988</​HPOId>63672 ··············​<HPOId>HP:​0000988</​HPOId>
64299 ··············​<HPOTerm>Skin·​rash</​HPOTerm>63673 ··············​<HPOTerm>Skin·​rash</​HPOTerm>
64300 ············​</​HPO>63674 ············​</​HPO>
64301 ············​<HPOFrequency·​id="28412">63675 ············​<HPOFrequency·​id="28419">
64302 ··············​<Name·​lang="en">Very·frequent·​(99-​80%)​</​Name>63676 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
64303 ············​</​HPOFrequency>63677 ············​</​HPOFrequency>
64304 ············​<DiagnosticCriteria/​>63678 ············​<DiagnosticCriteria/​>
64305 ··········​</​HPODisorderAssociatio​n>63679 ··········​</​HPODisorderAssociatio​n>
64306 ··········​<HPODisorderAssociati​on·​id="6495">63680 ··········​<HPODisorderAssociati​on·​id="438659">
64307 ············​<HPO·​id="19">63681 ············​<HPO·​id="19">
64308 ··············​<HPOId>HP:​0001250</​HPOId>63682 ··············​<HPOId>HP:​0001250</​HPOId>
64309 ··············​<HPOTerm>Seizures</​HPOTerm>63683 ··············​<HPOTerm>Seizures</​HPOTerm>
64310 ············​</​HPO>63684 ············​</​HPO>
64311 ············​<HPOFrequency·​id="28412">63685 ············​<HPOFrequency·​id="28419">
64312 ··············​<Name·​lang="en">Very·frequent·​(99-​80%)​</​Name>63686 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
64313 ············​</​HPOFrequency>63687 ············​</​HPOFrequency>
64314 ············​<DiagnosticCriteria/​>63688 ············​<DiagnosticCriteria/​>
64315 ··········​</​HPODisorderAssociatio​n>63689 ··········​</​HPODisorderAssociatio​n>
64316 ··········​<HPODisorderAssociati​on·​id="6496">63690 ··········​<HPODisorderAssociati​on·​id="438660">
64317 ············​<HPO·​id="21">63691 ············​<HPO·​id="21">
64318 ··············​<HPOId>HP:​0001252</​HPOId>63692 ··············​<HPOId>HP:​0001252</​HPOId>
64319 ··············​<HPOTerm>Muscular·​hypotonia</​HPOTerm>63693 ··············​<HPOTerm>Muscular·​hypotonia</​HPOTerm>
64320 ············​</​HPO>63694 ············​</​HPO>
64321 ············​<HPOFrequency·​id="28412">63695 ············​<HPOFrequency·​id="28419">
64322 ··············​<Name·​lang="en">Very·frequent·​(99-​80%)​</​Name>63696 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
64323 ············​</​HPOFrequency>63697 ············​</​HPOFrequency>
64324 ············​<DiagnosticCriteria/​>63698 ············​<DiagnosticCriteria/​>
64325 ··········​</​HPODisorderAssociatio​n>63699 ··········​</​HPODisorderAssociatio​n>
64326 ··········​<HPODisorderAssociati​on·​id="6497">63700 ··········​<HPODisorderAssociati​on·​id="438661">
64327 ············​<HPO·​id="1192">63701 ············​<HPO·​id="274">
64328 ··············​<HPOId>HP:​0001254</​HPOId>63702 ··············​<HPOId>HP:​0011968</​HPOId>
64329 ··············​<HPOTerm>Lethargy</​HPOTerm>63703 ··············​<HPOTerm>Feeding·difficulties</​HPOTerm>
64330 ············​</​HPO>63704 ············​</​HPO>
64331 ············​<HPOFrequency·​id="28412">63705 ············​<HPOFrequency·​id="28419">
64332 ··············​<Name·​lang="en">Very·frequent·​(99-​80%)​</​Name>63706 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
64333 ············​</​HPOFrequency>63707 ············​</​HPOFrequency>
64334 ············​<DiagnosticCriteria/​>63708 ············​<DiagnosticCriteria/​>
64335 ··········​</​HPODisorderAssociatio​n>63709 ··········​</​HPODisorderAssociatio​n>
64336 ··········​<HPODisorderAssociati​on·​id="6498">63710 ··········​<HPODisorderAssociati​on·​id="438662">
64337 ············​<HPO·​id="79">63711 ············​<HPO·​id="5063">
64338 ··············​<HPOId>HP:​0001263</​HPOId>63712 ··············​<HPOId>HP:​0025356</​HPOId>
64339 ··············​<HPOTerm>Global·developmental·delay</​HPOTerm>63713 ··············​<HPOTerm>Psychomotor·retardation</​HPOTerm>
64340 ············​</​HPO>63714 ············​</​HPO>
64341 ············​<HPOFrequency·​id="28412">63715 ············​<HPOFrequency·​id="28419">
64342 ··············​<Name·​lang="en">Very·frequent·​(99-​80%)​</​Name>63716 ··············​<Name·​lang="en">Frequent·​(79-​30%)​</​Name>
64343 ············​</​HPOFrequency>63717 ············​</​HPOFrequency>
64344 ············​<DiagnosticCriteria/​>63718 ············​<DiagnosticCriteria/​>
64345 ··········​</​HPODisorderAssociatio​n>63719 ··········​</​HPODisorderAssociatio​n>
64346 ··········​<HPODisorderAssociati​on·​id="6499">63720 ··········​<HPODisorderAssociati​on·​id="438663">
64347 ············​<HPO·​id="1117">63721 ············​<HPO·​id="7749">
64348 ··············​<HPOId>HP:​0001595</​HPOId>63722 ··············​<HPOId>HP:​0410145</​HPOId>
64349 ··············​<HPOTerm>Abnormality·of·the·hair</​HPOTerm>63723 ··············​<HPOTerm>Decreased·biotinidase·activity</​HPOTerm>
64350 ············​</​HPO>63724 ············​</​HPO>
64351 ············​<HPOFrequency·​id="28412">63725 ············​<HPOFrequency·​id="28419">
64352 ··············​<Name·​lang="en">Very·frequent·​(99-​80%)​</​Name>63726 ······