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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 dominant craniometaphyseal dysplasia
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Accession:DOID:0080801 term browser browse the term
Definition:A craniometaphyseal dysplasia that has_material_basis_in heterozygous mutation in the ANKH gene on chromosome 5p15. (DO)
Synonyms:exact_synonym: CMDD;   CMDJ;   CRANIOMETADIAPHYSEAL DYSPLASIA WORMIAN BONE TYPE;   craniometaphyseal dysplasia, Jackson type;   craniometaphyseal dysplasia, dominant type
 primary_id: MESH:C565145
 alt_id: OMIM:123000


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autosomal dominant craniometaphyseal dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankh ANKH inorganic pyrophosphate transport regulator ISO ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD
RGD		 PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 More... RGD:734571 NCBI chr 2:78,153,027...78,280,181
Ensembl chr 2:78,153,026...78,280,187 		JBrowse link
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant ClinVar PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 More... NCBI chr 2:78,290,437...78,316,633
Ensembl chr 2:78,290,959...78,316,422 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      musculoskeletal system disease 8304
        muscular disease 2147
          Craniomandibular Disorders 27
            craniometaphyseal dysplasia 3
              autosomal dominant craniometaphyseal dysplasia 2
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      Skin and Connective Tissue Diseases 7520
        connective tissue disease 5786
          bone disease 4302
            bone development disease 2307
              osteochondrodysplasia 861
                osteosclerosis 59
                  craniometaphyseal dysplasia 3
                    autosomal dominant craniometaphyseal dysplasia 2
paths to the root