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ONTOLOGY REPORT - ANNOTATIONS


Term:cartilage-hair hypoplasia
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Accession:DOID:14773 term browser browse the term
Synonyms:exact_synonym: CHH;   Cartilage Hair Syndrome;   McKusick Metaphyseal Chondrodysplasia Syndrome;   Metaphyseal Chondrodysplasia, Recessive Type;   Metaphyseal chondrodysplasia, McKusick type
 primary_id: MESH:C535916;   RDO:0001284
 alt_id: OMIM:250250
 xref: NCI:C61245
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Path 1
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  disease 15619
    syndrome 5154
      primary immunodeficiency disease 957
        cartilage-hair hypoplasia 0
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      gastrointestinal system disease 4373
        Gastrointestinal Diseases 2465
          intestinal disease 1386
            colonic disease 941
              megacolon 153
                Hirschsprung's disease 152
                  cartilage-hair hypoplasia 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.