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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: MIM: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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:11146471 PMID:23951358 PMID:25741868 PMID:28492532 NCBI chr20:36,302,490...36,315,010
Ensembl chr20:36,302,352...36,319,689 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      musculoskeletal system disease 8492
        muscular disease 2244
          Craniomandibular Disorders 28
            craniometaphyseal dysplasia 3
              autosomal recessive craniometaphyseal dysplasia 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      musculoskeletal system disease 8492
        connective tissue disease 5948
          bone disease 4398
            bone development disease 2345
              dysostosis 634
                synostosis 404
                  craniosynostosis 340
                    Crouzon syndrome 34
                      autosomal recessive craniometaphyseal dysplasia 1
paths to the root