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    <!-- http://purl.obolibrary.org/obo/NCIT_C165258 -->

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        <rdfs:label>Cellosaurus Disease Terminology</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/NCIT_C215350 -->

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        <rdfs:label>CCM2 Gene</rdfs:label>
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        <rdfs:label>PDCD10 Gene</rdfs:label>
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        <rdfs:label>Central Nervous System Vascular Malformation</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/NCIT_C84626 -->

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        <rdfs:label>Cerebral Cavernous Malformation</rdfs:label>
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        <ns2:NCIT_P207>C2919945</ns2:NCIT_P207>
        <ns2:NCIT_NHC0>C84626</ns2:NCIT_NHC0>
        <ns2:IAO_0000115>A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur.</ns2:IAO_0000115>
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