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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:9536089 PMID:11237722 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
ISS		 OMIM:215100
ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 1
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
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
ISS		 OMIM:222765
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 2		 OMIM
MouseDO
CTD
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
ISS		 OMIM:600121
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 3		 OMIM
MouseDO
CTD
ClinVar		 PMID:7807941 PMID:9536098 PMID:9553082 PMID:11152660 PMID:17576681 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:26220973 PMID:28492532 NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431 		JBrowse link
rhizomelic chondrodysplasia punctate type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Far1 fatty acyl CoA reductase 1 ISO ClinVar Annotator: match by term: Peroxisomal fatty acyl-coa reductase 1 disorder OMIM
ClinVar		 PMID:25439727 PMID:25741868 PMID:28492532 NCBI chr 1:167,644,622...167,705,868
Ensembl chr 1:167,644,677...167,705,730 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21112
    syndrome 10710
      chondrodysplasia punctata 9
        rhizomelic chondrodysplasia punctata 5
          rhizomelic chondrodysplasia punctata type 1 1
          rhizomelic chondrodysplasia punctata type 2 1
          rhizomelic chondrodysplasia punctata type 3 1
          rhizomelic chondrodysplasia punctata type 5 1
          rhizomelic chondrodysplasia punctate type 4 1
Path 2
Term Annotations click to browse term
  disease 21112
    disease of anatomical entity 18151
      musculoskeletal system disease 8202
        connective tissue disease 5695
          bone disease 4209
            bone development disease 2248
              osteochondrodysplasia 847
                chondrodysplasia punctata 9
                  rhizomelic chondrodysplasia punctata 5
                    rhizomelic chondrodysplasia punctata type 1 1
                    rhizomelic chondrodysplasia punctata type 2 1
                    rhizomelic chondrodysplasia punctata type 3 1
                    rhizomelic chondrodysplasia punctata type 5 1
                    rhizomelic chondrodysplasia punctate type 4 1
paths to the root