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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:chondrodysplasia punctata
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Accession:DOID:2581 term browser browse the term
Definition:A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography. (DO)
Synonyms:exact_synonym: chondrodysplasia calcificans congenita;   chondrodysplasia punctata congenita;   chondrodysplasia punctata syndrome;   chondrodystrophia calcificans congenita;   dysplasia epiphysialis punctata;   stippled epiphyses
 primary_id: MESH:D002806
 alt_id: MESH:C565853;   OMIM:215105
 xref: GARD:8542;   NCI:C84632;   ORDO:93442
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
chondrodysplasia punctata term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arse arylsulfatase E susceptibility ISO RGD PMID:9409863 RGD:1599238 NCBI chr 2:122,876,645...122,884,673
Ensembl chr 2:122,877,286...122,884,360
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO CDPX2, OMIM:302960;DNA:point mutation:exon:W29X, R63X
CTD Direct Evidence: marker/mechanism
CTD PMID:18176751, PMID:10391218 RGD:734908 NCBI chr  X:15,049,394...15,055,782
Ensembl chr  X:15,049,462...15,055,781
JBrowse link
rhizomelic chondrodysplasia punctata term browser
Symbol Object Name Qualifiers 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: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, PMID:30311386 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 Qualifiers 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:30311386, 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 Qualifiers 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, PMID:30311386 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 Qualifiers 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 Qualifiers 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
X-linked chondrodysplasia punctata 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arse arylsulfatase E ISO ClinVar Annotator: match by term: Chondrodysplasia punctata 1, X-linked recessive
ClinVar Annotator: match by term: X-linked chondrodysplasia punctata 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:2722194, PMID:7720070, PMID:9409863, PMID:9497243, PMID:9863597, PMID:12567415, PMID:18348268, PMID:18414213, PMID:23470839, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386, PMID:32860008 NCBI chr 2:122,876,645...122,884,673
Ensembl chr 2:122,877,286...122,884,360
JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISS OMIM:302950 | OMIM:302960 MouseDO NCBI chr  X:15,049,394...15,055,782
Ensembl chr  X:15,049,462...15,055,781
JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISS OMIM:302950 | OMIM:302960 MouseDO NCBI chr  X:152,933,118...152,964,399
Ensembl chr  X:152,933,069...152,964,390
JBrowse link
X-linked chondrodysplasia punctata 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ebp EBP, cholestenol delta-isomerase ISO ClinVar Annotator: match by term: Chondrodysplasia punctata 2 X-linked dominant
ClinVar Annotator: match by term: Chondrodysplasia punctata 2, X-linked dominant, atypical
ClinVar Annotator: match by OMIM:302960
OMIM
ClinVar
PMID:1355069, PMID:7677157, PMID:10391218, PMID:10391219, PMID:10942423, PMID:12483303, PMID:12503102, PMID:15368506, PMID:18414213, PMID:20949533, PMID:22229330, PMID:25741868, PMID:28492532 NCBI chr  X:15,049,394...15,055,782
Ensembl chr  X:15,049,462...15,055,781
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      chondrodysplasia punctata 7
        Astley-Kendall Syndrome 0
        Chondrodysplasia Punctata with Coagulation Factor Deficiency 0
        Pacman Dysplasia 0
        X-linked chondrodysplasia punctata 1 3
        X-linked chondrodysplasia punctata 2 1
        autosomal dominant chondrodysplasia punctata + 0
        rhizomelic chondrodysplasia punctata + 4
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        connective tissue disease 4103
          bone disease 3534
            bone development disease 1343
              osteochondrodysplasia 446
                chondrodysplasia punctata 7
                  Astley-Kendall Syndrome 0
                  Chondrodysplasia Punctata with Coagulation Factor Deficiency 0
                  Pacman Dysplasia 0
                  X-linked chondrodysplasia punctata 1 3
                  X-linked chondrodysplasia punctata 2 1
                  autosomal dominant chondrodysplasia punctata + 0
                  rhizomelic chondrodysplasia punctata + 4
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.