| 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
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| new mode 100755
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| index 6b01fb9..779df45
|
| a/Rare | b/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 | ··<HPODisorderSetStatusList·count="4069"> | 10 | ··<HPODisorderSetStatusList·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&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 | ········<HPODisorderAssociationList·count="18"> | |
| 39097 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 39107 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 39117 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 39127 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 39137 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 39147 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 39157 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 39167 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 39177 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 39187 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 39197 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 39207 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 39217 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 39227 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 39237 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 39247 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 39257 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 39267 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 39277 | ········</HPODisorderAssociationList> | |
| 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&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 | ········<HPODisorderAssociationList·count="7"> | |
| 39795 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 39805 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 39815 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 39825 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 39835 | ··········<HPODisorderAssociation·id="4200"> | |
| 39836 | ············<HPO·id="760"> | |
| 39837 | ··············<HPOId>HP:0002716</HPOId> | |
| 39838 | ··············<HPOTerm>Lymphadenopathy</HPOTerm> | |
| 39839 | ············</HPO> | |
| 39840 | ············<HPOFrequency·id="28419"> | |
| 39841 | ··············<Name·lang="en">Frequent·(79-30%)</Name> | |
| 39842 | ············</HPOFrequency> | |
| 39843 | ············<DiagnosticCriteria/> | |
| 39844 | ··········</HPODisorderAssociation> | |
| 39845 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 39855 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 39865 | ········</HPODisorderAssociationList> | |
| 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 | ········<HPODisorderAssociationList·count="17"> | 44690 | ········<HPODisorderAssociationList·count="23"> |
| 44979 | ··········<HPODisorderAssociation·id="4747"> | 44691 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | 44700 | ··········</HPODisorderAssociation> |
| 44989 | ··········<HPODisorderAssociation·id="4748"> | 44701 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | 44710 | ··········</HPODisorderAssociation> |
| 44999 | ··········<HPODisorderAssociation·id="4749"> | 44711 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | 44720 | ··········</HPODisorderAssociation> |
| 45009 | ··········<HPODisorderAssociation·id="4750"> | 44721 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | 44730 | ··········</HPODisorderAssociation> |
| 45019 | ··········<HPODisorderAssociation·id="4751"> | 44731 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | 44740 | ··········</HPODisorderAssociation> |
| 45029 | ··········<HPODisorderAssociation·id="4752"> | 44741 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | 44750 | ··········</HPODisorderAssociation> |
| 45039 | ··········<HPODisorderAssociation·id="4753"> | 44751 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | 44760 | ··········</HPODisorderAssociation> |
| 45049 | ··········<HPODisorderAssociation·id="4754"> | 44761 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> |
| | 44771 | ··········<HPODisorderAssociation·id="435540"> |
| | 44772 | ············<HPO·id="3004"> |
| | 44773 | ··············<HPOId>HP:0007894</HPOId> |
| | 44774 | ··············<HPOTerm>Hypopigmentation·of·the·fundus</HPOTerm> |
| | 44775 | ············</HPO> |
| | 44776 | ············<HPOFrequency·id="28412"> |
| | 44777 | ··············<Name·lang="en">Very·frequent·(99-80%)</Name> |
| | 44778 | ············</HPOFrequency> |
| | 44779 | ············<DiagnosticCriteria/> |
| | 44780 | ··········</HPODisorderAssociation> |
| | 44781 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | 44790 | ··········</HPODisorderAssociation> |
| 45059 | ··········<HPODisorderAssociation·id="4755"> | 44791 | ··········<HPODisorderAssociation·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>Hypopigmentation·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 | ··········</HPODisorderAssociation> | 44800 | ··········</HPODisorderAssociation> |
| 45069 | ··········<HPODisorderAssociation·id="4756"> | 44801 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> |
| | 44811 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> |
| | 44821 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | 44830 | ··········</HPODisorderAssociation> |
| 45079 | ··········<HPODisorderAssociation·id="4757"> | 44831 | ··········<HPODisorderAssociation·id="435546"> |
| 45080 | ············<HPO·id="603"> | 44832 | ············<HPO·id="603"> |
| 45081 | ··············<HPOId>HP:0005599</HPOId> | 44833 | ··············<HPOId>HP:0005599</HPOId> |
| 45082 | ··············<HPOTerm>Hypopigmentation·of·hair</HPOTerm> | 44834 | ··············<HPOTerm>Hypopigmentation·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 | ··········</HPODisorderAssociation> | 44840 | ··········</HPODisorderAssociation> |
| 45089 | ··········<HPODisorderAssociation·id="4758"> | 44841 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | 44850 | ··········</HPODisorderAssociation> |
| 45099 | ··········<HPODisorderAssociation·id="4759"> | 44851 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | 44860 | ··········</HPODisorderAssociation> |
| 45109 | ··········<HPODisorderAssociation·id="4760"> | 44861 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | 44870 | ··········</HPODisorderAssociation> |
| 45119 | ··········<HPODisorderAssociation·id="4761"> | 44871 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | 44880 | ··········</HPODisorderAssociation> |
| 45129 | ··········<HPODisorderAssociation·id="4762"> | 44881 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | 44890 | ··········</HPODisorderAssociation> |
| 45139 | ··········<HPODisorderAssociation·id="4763"> | 44891 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> |
| | 44901 | ··········<HPODisorderAssociation·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·(<4-1%)</Name> |
| | 44908 | ············</HPOFrequency> |
| | 44909 | ············<DiagnosticCriteria/> |
| | 44910 | ··········</HPODisorderAssociation> |
| | 44911 | ··········<HPODisorderAssociation·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·(<4-1%)</Name> |
| 45146 | ············</HPOFrequency> | 44918 | ············</HPOFrequency> |
| 45147 | ············<DiagnosticCriteria/> | 44919 | ············<DiagnosticCriteria/> |
| 45148 | ··········</HPODisorderAssociation> | 44920 | ··········</HPODisorderAssociation> |
| 45149 | ········</HPODisorderAssociationList> | 44921 | ········</HPODisorderAssociationList> |
| 45150 | ······</Disorder> | 44922 | ······</Disorder> |
| 45151 | ······<Source/> | 44923 | ······<Source>27350326[PMID]_31196117[PLMID]_25093188[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&Expert=352</ExpertLink> | |
| 47617 | ········<Name·lang="en">Galactosemia</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 | ········<HPODisorderAssociationList·count="32"> | |
| 47625 | ··········<HPODisorderAssociation·id="5218"> | |
| 47626 | ············<HPO·id="469"> | |
| 47627 | ··············<HPOId>HP:0000044</HPOId> | |
| 47628 | ··············<HPOTerm>Hypogonadotrophic·hypogonadism</HPOTerm> | |
| 47629 | ············</HPO> | |
| 47630 | ············<HPOFrequency·id="28426"> | |
| 47631 | ··············<Name·lang="en">Occasional·(29-5%)</Name> | |
| 47632 | ············</HPOFrequency> | |
| 47633 | ············<DiagnosticCriteria/> | |
| 47634 | ··········</HPODisorderAssociation> | |
| 47635 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 47645 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 47655 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 47665 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 47675 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 47685 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 47695 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 47705 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 47715 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 47725 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 47735 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 47745 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 47755 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 47765 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 47775 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 47785 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 47795 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 47805 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 47815 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 47825 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 47835 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 47845 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 47855 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 47865 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 47875 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 47885 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 47895 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 47905 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 47915 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 47925 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 47935 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 47945 | ········</HPODisorderAssociationList> | |
| 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&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 | ········<HPODisorderAssociationList·count="5"> | |
| 49808 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 49818 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 49828 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 49838 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 49848 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | |
| 49858 | ········</HPODisorderAssociationList> | |
| 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&Expert=1880</ExpertLink> | 59733 | ········<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&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">Morphological·anomaly</Name> | 59736 | ··········<Name·lang="en">Morphological·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 | ········<HPODisorderAssociationList·count="18"> | 63619 | ········<HPODisorderAssociationList·count="26"> |
| 64256 | ··········<HPODisorderAssociation·id="6490"> | 63620 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | 63629 | ··········</HPODisorderAssociation> |
| 64266 | ··········<HPODisorderAssociation·id="6491"> | 63630 | ··········<HPODisorderAssociation·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>Hyperammonemia</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 | ··········</HPODisorderAssociation> | 63639 | ··········</HPODisorderAssociation> |
| 64276 | ··········<HPODisorderAssociation·id="6492"> | 63640 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | 63649 | ··········</HPODisorderAssociation> |
| 64286 | ··········<HPODisorderAssociation·id="6493"> | 63650 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> |
| | 63660 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | 63669 | ··········</HPODisorderAssociation> |
| 64296 | ··········<HPODisorderAssociation·id="6494"> | 63670 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | 63679 | ··········</HPODisorderAssociation> |
| 64306 | ··········<HPODisorderAssociation·id="6495"> | 63680 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | 63689 | ··········</HPODisorderAssociation> |
| 64316 | ··········<HPODisorderAssociation·id="6496"> | 63690 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | 63699 | ··········</HPODisorderAssociation> |
| 64326 | ··········<HPODisorderAssociation·id="6497"> | 63700 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | 63709 | ··········</HPODisorderAssociation> |
| 64336 | ··········<HPODisorderAssociation·id="6498"> | 63710 | ··········<HPODisorderAssociation·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 | ··········</HPODisorderAssociation> | 63719 | ··········</HPODisorderAssociation> |
| 64346 | ··········<HPODisorderAssociation·id="6499"> | 63720 | ··········<HPODisorderAssociation·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 | ······ |