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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 Chondrodysplasia
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Accession:DOID:9000073 term browser browse the term
For additional species annotation, visit the Alliance of Genome Resources.



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Metaphyseal Chondrodysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col10a1 collagen type X alpha 1 chain ISO ClinVar Annotator: match by term: Metaphyseal chondrodysplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr20:38,183,103...38,189,488
Ensembl chr20:38,182,494...38,189,494
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Metaphyseal chondrodysplasia ClinVar PMID:21683322 PMID:25741868 PMID:27245183 PMID:28492532 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Nt5dc1 5'-nucleotidase domain containing 1 ISO ClinVar Annotator: match by term: Metaphyseal chondrodysplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr20:38,105,677...38,208,613
Ensembl chr20:38,105,678...38,208,591
JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Metaphyseal chondrodysplasia ClinVar NCBI chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729
JBrowse link
Metaphyseal Chondrodysplasia Spahr Type 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 chondrodysplasia, Spahr type ClinVar
OMIM
PMID:13915518 PMID:19615667 PMID:24648384 PMID:24781753 PMID:25741868 More... NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
JBrowse link
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cwc27 CWC27 spliceosome associated cyclophilin ISO ClinVar Annotator: match by term: Metaphyseal chondrodysplasia with retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis pigmentosa with or without skeletal anomalies
ClinVar
OMIM
PMID:10420199 PMID:25741868 PMID:28285769 PMID:28492532 NCBI chr 2:35,764,674...35,975,908
Ensembl chr 2:35,764,686...35,975,872
JBrowse link
Schmid metaphyseal chondrodysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col10a1 collagen type X alpha 1 chain ISO ClinVar Annotator: match by term: SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:156500
OMIM
ClinVar
CTD
PMID:7607655 PMID:7749409 PMID:7936797 PMID:8004099 PMID:8012364 More... NCBI chr20:38,183,103...38,189,488
Ensembl chr20:38,182,494...38,189,494
JBrowse link
G Nt5dc1 5'-nucleotidase domain containing 1 ISO ClinVar Annotator: match by synonym: SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE
ClinVar Annotator: match by term: SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE
ClinVar PMID:7607655 PMID:7749409 PMID:7936797 PMID:8004099 PMID:8304336 More... NCBI chr20:38,105,677...38,208,613
Ensembl chr20:38,105,678...38,208,591
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    Developmental Disease 10988
      bone development disease 1424
        osteochondrodysplasia 479
          Metaphyseal Chondrodysplasia 6
            Metaphyseal Chondrodysplasia Spahr Type 1
            Metaphyseal Chondrodysplasia with Cone-Shaped Epiphyses, Normal Hair, and Normal Hands 0
            Metaphyseal Chondrodysplasia with Retinitis Pigmentosa 1
            Metaphyseal Chondrodysplasia, Kaitila Type 0
            Metaphyseal Chondrodysplasia, Pena Type 0
            Schmid metaphyseal chondrodysplasia 2
Path 2
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      Skin and Connective Tissue Diseases 5861
        connective tissue disease 4445
          bone disease 3122
            bone development disease 1424
              osteochondrodysplasia 479
                Metaphyseal Chondrodysplasia 6
                  Metaphyseal Chondrodysplasia Spahr Type 1
                  Metaphyseal Chondrodysplasia with Cone-Shaped Epiphyses, Normal Hair, and Normal Hands 0
                  Metaphyseal Chondrodysplasia with Retinitis Pigmentosa 1
                  Metaphyseal Chondrodysplasia, Kaitila Type 0
                  Metaphyseal Chondrodysplasia, Pena Type 0
                  Schmid metaphyseal chondrodysplasia 2
paths to the root