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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 NCBI chr20:41,180,295...41,190,664
Ensembl chr20:41,184,287...41,189,633
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Metaphyseal chondrodysplasia ClinVar PMID:21683322, PMID:25741868, PMID:27245183 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Nt5dc1 5'-nucleotidase domain containing 1 ISO ClinVar Annotator: match by term: Metaphyseal chondrodysplasia ClinVar PMID:25741868 NCBI chr20:41,106,990...41,209,765
Ensembl chr20:41,106,991...41,209,728
JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by term: Metaphyseal chondrodysplasia ClinVar NCBI chr 8:118,984,531...119,012,803
Ensembl chr 8:118,988,053...119,012,671
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, PMID:27576021, PMID:28492532, PMID:30311386 NCBI chr 8:5,522,739...5,533,018
Ensembl chr 8:5,522,739...5,533,018
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:28285769, PMID:28492532 NCBI chr 2:34,716,420...34,923,060
Ensembl chr 2:34,719,344...34,923,024
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, PMID:8220429, PMID:8304336, PMID:8554571, PMID:8986632, PMID:9067753, PMID:9525992, PMID:9837818, PMID:9852679, PMID:10991694, PMID:12554676, PMID:12584438, PMID:17403716, PMID:19035365, PMID:25741868, PMID:28492532 NCBI chr20:41,180,295...41,190,664
Ensembl chr20:41,184,287...41,189,633
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, PMID:8554571, PMID:8986632, PMID:9067753, PMID:9525992, PMID:9837818, PMID:9852679, PMID:10991694, PMID:12554676, PMID:12584438, PMID:25741868, PMID:28492532 NCBI chr20:41,106,990...41,209,765
Ensembl chr20:41,106,991...41,209,728
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      bone development disease 1330
        osteochondrodysplasia 435
          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 16096
    disease of anatomical entity 15346
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4072
          bone disease 3527
            bone development disease 1330
              osteochondrodysplasia 435
                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

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