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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:Metaphyseal Anadysplasia 1
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Accession:DOID:9000616 term browser browse the term
Synonyms:exact_synonym: MANDP1
 narrow_synonym: METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL DOMINANT;   Metaphyseal anadysplasia 1, autosomal recessive
 primary_id: MESH:C567545


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Metaphyseal Anadysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp13 matrix metallopeptidase 13 ISO ClinVar Annotator: match by term: Metaphyseal anadysplasia 1, autosomal dominant ClinVar PMID:19615667 PMID:28492532 PMID:30439533 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      bone development disease 2304
        osteochondrodysplasia 860
          Metaphyseal Anadysplasia 2
            Metaphyseal Anadysplasia 1 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      musculoskeletal system disease 8272
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2304
              osteochondrodysplasia 860
                Metaphyseal Anadysplasia 2
                  Metaphyseal Anadysplasia 1 1
paths to the root