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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:Metaphyseal Dysplasia without Hypotrichosis
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Accession:DOID:9007249 term browser browse the term
Synonyms:exact_synonym: CHHV;   Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only;   Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia without Hypotrichosis or Immunodeficiency;   MDWH
 primary_id: MESH:C563574
 alt_id: OMIM:250460


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Metaphyseal Dysplasia without Hypotrichosis 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: Cartilage-hair hypoplasia variant, skeletal manifestations only ClinVar PMID:8034306 PMID:9156319 PMID:10026268 PMID:11207361 PMID:11940090 More... NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      bone development disease 2304
        osteochondrodysplasia 860
          metaphyseal dysplasia 14
            Metaphyseal Dysplasia without Hypotrichosis 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Skin and Connective Tissue Diseases 7431
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2304
              osteochondrodysplasia 860
                metaphyseal dysplasia 14
                  Metaphyseal Dysplasia without Hypotrichosis 1
paths to the root