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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
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Accession:DOID:9001193 term browser browse the term
Synonyms:exact_synonym: Early-onset regressive form of metaphyseal dysplasia
 primary_id: MESH:C537351;   RDO:0003181
For additional species annotation, visit the Alliance of Genome Resources.


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Metaphyseal Anadysplasia 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
DNA:missense mutations: :p.F55S, p.M72T, p.H213N (human)
ClinVar PMID:28492532, PMID:30311386, PMID:19615667 RGD:13204811 NCBI chr 8:5,522,739...5,533,018
Ensembl chr 8:5,522,739...5,533,018
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO DNA:missense mutations: :p.M1K (c.21T>A)(human) RGD PMID:19615667 RGD:13204811 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
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 NCBI chr 8:5,522,739...5,533,018
Ensembl chr 8:5,522,739...5,533,018
JBrowse link
Metaphyseal Anadysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp9 matrix metallopeptidase 9 ISO ClinVar Annotator: match by term: Metaphyseal anadysplasia 2
ClinVar Annotator: match by term: Metaphyseal anadysplasia 2, autosomal recessive
OMIM
ClinVar
PMID:16631427, PMID:18035073, PMID:19615667, PMID:20605480, PMID:22942228, PMID:25741868, PMID:26207422, PMID:28492532 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      bone development disease 1330
        osteochondrodysplasia 435
          Metaphyseal Anadysplasia 2
            Metaphyseal Anadysplasia 1 1
            Metaphyseal Anadysplasia 2 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      musculoskeletal system disease 5715
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1330
              osteochondrodysplasia 435
                Metaphyseal Anadysplasia 2
                  Metaphyseal Anadysplasia 1 1
                  Metaphyseal Anadysplasia 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.