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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:rhizomelic chondrodysplasia punctata
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Accession:DOID:2580 term browser browse the term
Definition:A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. (DO)
Synonyms:exact_synonym: chondrodysplasia punctata, rhizomelic form;   rhizomelic chondrodysplasia punctatas
 primary_id: MESH:D018902
 xref: GARD:13160;   ICD10CM:E71.540;   NCI:C85047;   OMIM:PS215100;   ORDO:177
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
rhizomelic chondrodysplasia punctata term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agps alkylglycerone phosphate synthase ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata ClinVar
RGD
PMID:9536098 PMID:17576681 PMID:18414213 PMID:25741868 PMID:28492532 More... RGD:1300366 NCBI chr 3:60,747,323...60,845,831
Ensembl chr 3:60,747,323...60,845,830
JBrowse link
G Gnpat glyceronephosphate O-acyltransferase ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata ClinVar PMID:25741868 PMID:28492532 NCBI chr19:52,822,326...52,848,872
Ensembl chr19:52,822,319...52,852,361
JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata ClinVar PMID:26220973 NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431
JBrowse link
G Pex7 peroxisomal biogenesis factor 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chondrodysplasia punctata rhizomelic form | ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata
CTD
ClinVar
PMID:1773541 PMID:8295403 PMID:9090381 PMID:9090382 PMID:9090383 More... NCBI chr 1:14,582,698...14,646,686
Ensembl chr 1:14,582,699...14,646,748
JBrowse link
rhizomelic chondrodysplasia punctata type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
RGD
PMID:1773541 PMID:8295403 PMID:9090381 PMID:9090382 PMID:9090383 More... RGD:13208515 NCBI chr 1:14,582,698...14,646,686
Ensembl chr 1:14,582,699...14,646,748
JBrowse link
rhizomelic chondrodysplasia punctata type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnpat glyceronephosphate O-acyltransferase ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 2 OMIM
ClinVar
PMID:1152660 PMID:1405476 PMID:7530787 PMID:9536089 PMID:9843043 More... NCBI chr19:52,822,326...52,848,872
Ensembl chr19:52,822,319...52,852,361
JBrowse link
rhizomelic chondrodysplasia punctata type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agps alkylglycerone phosphate synthase ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 3 OMIM
ClinVar
PMID:7807941 PMID:9553082 PMID:11152660 PMID:18414213 PMID:21990100 More... NCBI chr 3:60,747,323...60,845,831
Ensembl chr 3:60,747,323...60,845,830
JBrowse link
rhizomelic chondrodysplasia punctata type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 OMIM
ClinVar
PMID:25741868 PMID:26220973 NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    syndrome 9686
      chondrodysplasia punctata 7
        rhizomelic chondrodysplasia punctata 4
          rhizomelic chondrodysplasia punctata type 1 1
          rhizomelic chondrodysplasia punctata type 2 1
          rhizomelic chondrodysplasia punctata type 3 1
          rhizomelic chondrodysplasia punctata type 5 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      musculoskeletal system disease 7179
        connective tissue disease 4971
          bone disease 3636
            bone development disease 1810
              osteochondrodysplasia 609
                chondrodysplasia punctata 7
                  rhizomelic chondrodysplasia punctata 4
                    rhizomelic chondrodysplasia punctata type 1 1
                    rhizomelic chondrodysplasia punctata type 2 1
                    rhizomelic chondrodysplasia punctata type 3 1
                    rhizomelic chondrodysplasia punctata type 5 1
paths to the root