<?xml version="1.0" encoding="utf-8" ?>
<?xml-stylesheet type="text/xsl" href="/efo/transforms/bioportal_bean.xsl"?>
<BioportalConcept>
  <label>Down syndrome</label>
  <id>DOID:14250</id>
  <fullId>http://purl.org/obo/owl/DOID#DOID_14250</fullId>
  <synonyms>
    <string>Complete trisomy 21 syndrome (disorder)</string>
    <string>Down&apos;s syndrome</string>
    <string>Down&apos;s syndrome - trisomy 21</string>
    <string>Down&apos;s syndrome NOS</string>
    <string>Down&apos;s syndrome NOS (disorder)</string>
    <string>Downs syndrome</string>
    <string>G Trisomy</string>
    <string>trisomy 21 syndrome</string>
  </synonyms>
  <relations>
    <BioportalEntry>
      <strings>
        <string>ChildCount</string>
      </strings>
      <counter>0</counter>
    </BioportalEntry>
    <BioportalEntry>
      <strings>
        <string>EXACT SYNONYM</string>
      </strings>
      <list>
        <string>Complete trisomy 21 syndrome (disorder)</string>
        <string>Down&apos;s syndrome</string>
        <string>Down&apos;s syndrome - trisomy 21</string>
        <string>Down&apos;s syndrome NOS</string>
        <string>Down&apos;s syndrome NOS (disorder)</string>
        <string>Downs syndrome</string>
        <string>G Trisomy</string>
        <string>trisomy 21 syndrome</string>
      </list>
    </BioportalEntry>
    <BioportalEntry>
      <strings>
        <string>xref</string>
      </strings>
      <list>
        <string>SNOMEDCT_2010_1_31:205618003</string>
        <string>SNOMEDCT_2010_1_31:254263008</string>
        <string>SNOMEDCT_2010_1_31:41040004</string>
        <string>UMLS_CUI:C0013080</string>
        <string>ICD9CM:758.0</string>
        <string>MSH:D004314</string>
        <string>NCI:C2993</string>
        <string>NCI:C43224</string>
        <string>OMIM:190685</string>
        <string>SNOMEDCT_2010_1_31:157019002</string>
        <string>SNOMEDCT_2010_1_31:205614001</string>
      </list>
    </BioportalEntry>
    <BioportalEntry>
      <strings>
        <string>Comment</string>
      </strings>
      <list>
        <string>OMIM mapping confirmed by DO. [SN].</string>
      </list>
    </BioportalEntry>
    <BioportalEntry>
      <strings>
        <string>is_a</string>
      </strings>
      <list>
        <BioportalConcept>
          <label>chromosomal disease</label>
          <id>DOID:0080014</id>
          <fullId>http://purl.org/obo/owl/DOID#DOID_0080014</fullId>
          <relations>
            <BioportalEntry>
              <strings>
                <string>ChildCount</string>
              </strings>
              <counter>14</counter>
            </BioportalEntry>
          </relations>
          <type>class</type>
        </BioportalConcept>
      </list>
    </BioportalEntry>
    <BioportalEntry>
      <strings>
        <string>xref_EXACT SYNONYM</string>
      </strings>
      <list>
        <string>SNOMEDCT_2005_07_31:41040004</string>
        <string>ICD9CM_2006:758.0</string>
        <string>SNOMEDCT_2005_07_31:157019002</string>
        <string>SNOMEDCT_2005_07_31:205614001</string>
        <string>SNOMEDCT_2005_07_31:205618003</string>
        <string>SNOMEDCT_2005_07_31:254263008</string>
        <string>NCI2004_11_17:C2993</string>
        <string>MTHICD9_2006:758.0</string>
        <string>CSP2005:1254-8068</string>
      </list>
    </BioportalEntry>
    <BioportalEntry>
      <strings>
        <string>SuperClass</string>
      </strings>
      <list>
        <BioportalConcept>
          <label>chromosomal disease</label>
          <id>DOID:0080014</id>
          <fullId>http://purl.org/obo/owl/DOID#DOID_0080014</fullId>
          <relations>
            <BioportalEntry>
              <strings>
                <string>ChildCount</string>
              </strings>
              <counter>14</counter>
            </BioportalEntry>
          </relations>
          <type>class</type>
        </BioportalConcept>
      </list>
    </BioportalEntry>
  </relations>
  <type>class</type>
</BioportalConcept>

