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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:CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA
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Accession:DOID:9007954 term browser browse the term
Definition:This disease is characterized by macrocephaly, cranial hyperostosis, anvertebral endplate sclerosis, and hip dysplasia. Bone biopsy of patients shows evidence of increased osteoblast and reduced osteoclast function at the growth plate resorption zone, resulting in coarse trabeculae.
Synonyms:exact_synonym: CMDOH
 primary_id: MIM:620558



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CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Axin1 axin 1 ISO ClinVar Annotator: match by term: Craniometadiaphyseal osteosclerosis with hip dysplasia OMIM
ClinVar
PMID:25741868 PMID:37582359 NCBI chr10:15,667,894...15,720,092
Ensembl chr10:15,163,684...15,215,615
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      musculoskeletal system disease 8463
        Musculoskeletal Abnormalities 3456
          Craniofacial Abnormalities 2778
            craniodiaphyseal dysplasia 3
              CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA 1
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      Skin and Connective Tissue Diseases 7769
        connective tissue disease 5916
          bone disease 4362
            bone development disease 2385
              osteochondrodysplasia 881
                osteosclerosis 60
                  craniodiaphyseal dysplasia 3
                    CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA 1
paths to the root