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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 OMIM
ClinVar		 PMID:11146471 PMID:23951358 PMID:25741868 PMID:28492532 NCBI chrNW_004624798:9,358,996...9,364,413
Ensembl chrNW_004624798:9,359,004...9,364,313 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14170
    Developmental Disease 12414
      bone development disease 2198
        osteochondrodysplasia 834
          osteosclerosis 53
            craniometaphyseal dysplasia 3
              autosomal recessive craniometaphyseal dysplasia 1
Path 2
Term Annotations click to browse term
  disease 14170
    disease of anatomical entity 13885
      musculoskeletal system disease 7397
        connective tissue disease 5064
          bone disease 3717
            bone development disease 2198
              dysostosis 574
                synostosis 368
                  craniosynostosis 306
                    Crouzon syndrome 29
                      autosomal recessive craniometaphyseal dysplasia 1
paths to the root