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
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Path 1
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  disease 14823
    syndrome 4218
      primary immunodeficiency disease 930
        cartilage-hair hypoplasia 0
Path 2
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  disease 14823
    disease of anatomical entity 13997
      gastrointestinal system disease 4247
        Gastrointestinal Diseases 2345
          intestinal disease 1303
            colonic disease 866
              megacolon 99
                Hirschsprung's disease 98
                  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.