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    <!-- http://purl.obolibrary.org/obo/DOID_0050177 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_0050177">
        <rdfs:label>simple genetic disease</rdfs:label>
    </Class>
    


    <!-- http://www.ebi.ac.uk/efo/EFO_0000359 -->

    <Class rdf:about="http://www.ebi.ac.uk/efo/EFO_0000359">
        <rdfs:label>Cockayne syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/DOID_0050177"/>
        <ns2:IAO_0000118>Cockayne Syndrome, Type II</ns2:IAO_0000118>
        <ns2:IAO_0000118>Type III Cockayne Syndrome</ns2:IAO_0000118>
        <ns2:IAO_0000118>Cokayne syndrome</ns2:IAO_0000118>
        <ns2:IAO_0000118>Cockayne Syndrome Type 3</ns2:IAO_0000118>
        <ns2:IAO_0000118>Cockayne&#39;s syndrome</ns2:IAO_0000118>
        <ns2:IAO_0000119>SNOMEDCT:21086008</ns2:IAO_0000119>
        <ns2:IAO_0000118>Cockayne Syndrome, Group C</ns2:IAO_0000118>
        <ns2:IAO_0000118>Cockayne Syndrome, Group B</ns2:IAO_0000118>
        <ns2:IAO_0000118>Progeria-Like Syndromes</ns2:IAO_0000118>
        <ns2:IAO_0000119>DOID:2962</ns2:IAO_0000119>
        <rdfs:comment>An autosomal recessive syndrome caused by mutations in the ERCC8 and ERCC6 genes. It is characterized by growth and developmental delay, vision and hearing impairment, and impairment of the peripheral nervous system function.</rdfs:comment>
        <ns2:IAO_0000118>Type A Cockayne Syndrome</ns2:IAO_0000118>
        <rdfs:comment>Caused by mutations of gene ERCC6.</rdfs:comment>
        <ns2:IAO_0000118>Cockayne syndrome (disorder)</ns2:IAO_0000118>
        <ns2:IAO_0000118>Cockayne Syndrome Type C</ns2:IAO_0000118>
        <ns2:IAO_0000118>Type I Cockayne Syndrome</ns2:IAO_0000118>
        <ns2:IAO_0000119>GeneRIF:16246722</ns2:IAO_0000119>
        <rdfs:comment>A simple genetic disease that is caused by a rare autosomal recessive mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging.</rdfs:comment>
        <ns2:IAO_0000118>Group A Cockayne Syndrome</ns2:IAO_0000118>
        <ns2:IAO_0000119>GeneRIF:12095617</ns2:IAO_0000119>
        <ns2:IAO_0000118>Cockayne Syndrome, Type B</ns2:IAO_0000118>
        <ns2:IAO_0000118>Progeria-Like Syndrome</ns2:IAO_0000118>
        <ns2:IAO_0000117>James Malone</ns2:IAO_0000117>
        <rdfs:comment>A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.</rdfs:comment>
        <rdfs:comment>Caused by mutations of gene CKN1.</rdfs:comment>
        <rdfs:seeAlso>URI: http://www.ebi.ac.uk/cellline#cockayne_syndrome</rdfs:seeAlso>
        <ns2:IAO_0000118>cockayne syndrome</ns2:IAO_0000118>
        <ns2:IAO_0000119>GeneRIF:11809892</ns2:IAO_0000119>
        <ns2:IAO_0000119>MSH:D003057</ns2:IAO_0000119>
        <ns2:IAO_0000119>NCIt:C9460</ns2:IAO_0000119>
        <ns2:IAO_0000119>GeneRIF:15082767</ns2:IAO_0000119>
        <ns2:IAO_0000119>GeneRIF:12748643</ns2:IAO_0000119>
        <ns2:IAO_0000118>Dwarfism-retinal atrophy-deafness syndrome</ns2:IAO_0000118>
        <rdfs:comment>Type C is a rare form. Its genetic defect is not clear; appears to be a heterogeneous group. OMIM suggests that Type C should not be used anymore.</rdfs:comment>
    </Class>
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