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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 OMIM
ClinVar
PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 More... NCBI chrNW_004955426:3,992,671...4,130,754
Ensembl chrNW_004955426:3,992,671...4,130,754
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 chrNW_004955426:3,953,852...3,982,532
Ensembl chrNW_004955426:3,953,933...3,982,175
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13809
      musculoskeletal system disease 7229
        muscular disease 1988
          Craniomandibular Disorders 24
            craniometaphyseal dysplasia 3
              autosomal dominant craniometaphyseal dysplasia 2
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13809
      Skin and Connective Tissue Diseases 6296
        connective tissue disease 4892
          bone disease 3572
            bone development disease 2128
              osteochondrodysplasia 823
                osteosclerosis 52
                  craniometaphyseal dysplasia 3
                    autosomal dominant craniometaphyseal dysplasia 2
paths to the root