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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:autosomal recessive craniometaphyseal dysplasia
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Accession:DOID:0080802 term browser browse the term
Definition:A craniometaphyseal dysplasia that has_material_basis_in homozygous mutation in the GJA1 gene on chromosome 6q22. (DO)
Synonyms:exact_synonym: CMDR;   craniometaphyseal dysplasia, autosomal recessive type
 primary_id: MESH:C536570
 alt_id: OMIM:218400


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autosomal recessive craniometaphyseal dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive OMIM
ClinVar		 PMID:11146471 PMID:23951358 PMID:25741868 PMID:28492532 NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      bone development disease 2275
        osteochondrodysplasia 862
          osteosclerosis 54
            craniometaphyseal dysplasia 3
              autosomal recessive craniometaphyseal dysplasia 1
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      musculoskeletal system disease 7742
        connective tissue disease 5279
          bone disease 3826
            bone development disease 2275
              dysostosis 575
                synostosis 371
                  craniosynostosis 312
                    Crouzon syndrome 30
                      autosomal recessive craniometaphyseal dysplasia 1
paths to the root