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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 More... NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    syndrome 8262
      primary immunodeficiency disease 2730
        cartilage-hair hypoplasia 1
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      gastrointestinal system disease 6237
        Gastrointestinal Diseases 4317
          intestinal disease 2629
            colonic disease 2058
              megacolon 395
                Hirschsprung's disease 395
                  cartilage-hair hypoplasia 1
paths to the root