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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:An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497)
Synonyms:exact_synonym: chondrodysplasia punctata, rhizomelic form;   rhizomelic chondrodysplasia punctatas
 primary_id: MESH:D018902
 alt_id: RDO:0000078
 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 PMID:18414213 PMID:25741868 PMID:28492532, PMID:9553082 RGD:1300366 NCBI chr 3:62,648,352...62,749,250
Ensembl chr 3:62,648,447...62,749,153 		JBrowse link
G Gnpat glyceronephosphate O-acyltransferase ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata ClinVar PMID:25741868 PMID:28492532 NCBI chr19:57,614,813...57,640,524
Ensembl chr19:57,614,628...57,640,726 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata ClinVar PMID:26220973 NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674 		JBrowse link
G Pex7 peroxisomal biogenesis factor 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata
ClinVar Annotator: match by term: Chondrodysplasia punctata rhizomelic form		 CTD
ClinVar		 PMID:1773541 PMID:9090381 PMID:9090382 PMID:9090383 PMID:9686382 PMID:10083738 PMID:10673331 PMID:11756410 PMID:11781871 PMID:12325024 PMID:12522768 PMID:20301447 PMID:21465523 PMID:21990100 PMID:22008564 PMID:23572185 PMID:25741868 PMID:25800479 PMID:26408048 PMID:26587300 PMID:28492532 NCBI chr 1:15,311,768...15,374,702
Ensembl chr 1:15,311,770...15,374,850 		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
ClinVar Annotator: match by OMIM:215100		 OMIM
ClinVar
CTD		 PMID:1773541 PMID:8295403 PMID:9090381 PMID:9090382 PMID:9090383 PMID:9472033 PMID:9686382 PMID:10083738 PMID:10673331 PMID:11756410 PMID:11781871 PMID:12325024 PMID:12522768 PMID:14974078 PMID:17325280 PMID:20301447 PMID:21465523 PMID:21990100 PMID:22008564 PMID:22057399 PMID:23352163 PMID:23572185 PMID:25741868 PMID:25800479 PMID:25851898 PMID:26408048 PMID:26467025 PMID:26587300 PMID:28492532, PMID:12915479 RGD:13208515 NCBI chr 1:15,311,768...15,374,702
Ensembl chr 1:15,311,770...15,374,850 		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
ClinVar Annotator: match by OMIM:222765		 OMIM
ClinVar		 PMID:1405476 PMID:7530787 PMID:9536089 PMID:9843043 PMID:11152660 PMID:21990100 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr19:57,614,813...57,640,524
Ensembl chr19:57,614,628...57,640,726 		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
ClinVar Annotator: match by OMIM:600121		 OMIM
ClinVar		 PMID:7807941 PMID:9553082 PMID:11152660 PMID:18414213 PMID:21990100 PMID:25741868 PMID:28492532 NCBI chr 3:62,648,352...62,749,250
Ensembl chr 3:62,648,447...62,749,153 		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:26220973 NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      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 16091
    disease of anatomical entity 15341
      musculoskeletal system disease 5740
        connective tissue disease 4137
          bone disease 3507
            bone development disease 1307
              osteochondrodysplasia 441
                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