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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:cartilage-hair hypoplasia
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Accession:DOID:14773 term browser browse the term
Definition:An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in RMRP on chromosome 9p13.3. (DO)
Synonyms:exact_synonym: CHH;   McKusick metaphyseal chondrodysplasia syndrome;   cartilage hair syndrome;   metaphyseal chondrodysplasia, McKusick type;   metaphyseal chondrodysplasia, recessive type
 primary_id: MESH:C535916
 alt_id: OMIM:250250
 xref: NCI:C61245
For additional species annotation, visit the Alliance of Genome Resources.


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cartilage-hair hypoplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc107 coiled-coil domain containing 107 ISO ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, McKusick type ClinVar PMID:8034306, PMID:9156319, PMID:10026268, PMID:11006544, PMID:11207361, PMID:11940090, PMID:12107819, PMID:12888988, PMID:14569119, PMID:16097009, PMID:16254002, PMID:16838329, PMID:17701897, PMID:25741868, PMID:28094436, PMID:28492532 NCBI chr 5:58,995,211...58,998,620
Ensembl chr 5:58,995,249...58,997,953
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      primary immunodeficiency disease 2340
        cartilage-hair hypoplasia 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      gastrointestinal system disease 4623
        Gastrointestinal Diseases 2542
          intestinal disease 1504
            colonic disease 1019
              megacolon 183
                Hirschsprung's disease 182
                  cartilage-hair hypoplasia 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.