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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 Arsl arylsulfatase L susceptibility ISO RGD PMID:9409863 RGD:1599238 NCBI chr 2:119,038,803...119,047,579
Ensembl chr 2:119,038,921...119,046,846 		JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISO CDPX2, OMIM:302960;DNA:point mutation:exon:W29X, R63X
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:18176751 PMID:10391218 RGD:734908 NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826 		JBrowse link
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: X-linked dominant chondrodysplasia, Chassaing-Lacombe type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16001442 PMID:20181727 PMID:25741868 PMID:28492532 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441 		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
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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex7 peroxisomal biogenesis factor 7 ISO
ISS		 ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 9 | ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 1
OMIM:215100
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnpat glyceronephosphate O-acyltransferase ISO
ISS		 ClinVar Annotator: match by term: GNPAT-related condition | ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 2
OMIM:222765
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1405476 PMID:7530787 PMID:9536089 PMID:9536098 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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agps alkylglycerone phosphate synthase ISO
ISS		 ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 3
OMIM:600121
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 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 Qualifiers 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 Qualifiers 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
X-linked chondrodysplasia punctata 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsl arylsulfatase L ISO ClinVar Annotator: match by term: Chondrodysplasia punctata, brachytelephalangic, autosomal | ClinVar Annotator: match by term: X-linked chondrodysplasia punctata 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1557308 PMID:2722194 PMID:7720070 PMID:9409863 PMID:9497243 More... NCBI chr 2:119,038,803...119,047,579
Ensembl chr 2:119,038,921...119,046,846 		JBrowse link
G Ebp EBP, cholestenol delta-isomerase ISS OMIM:302950 | OMIM:302960 MouseDO NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826 		JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISS OMIM:302950 | OMIM:302960 MouseDO NCBI chr  X:150,775,034...150,807,161
Ensembl chr  X:150,775,080...150,807,142 		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 term: Happle syndrome | ClinVar Annotator: match by term: Hunermann-Conradi Syndrome OMIM
ClinVar		 PMID:1355069 PMID:7677157 PMID:10391218 PMID:10391219 PMID:10710233 More... NCBI chr  X:14,299,427...14,305,826
Ensembl chr  X:14,299,448...14,305,826 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      chondrodysplasia punctata 9
        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 + 2
        autosomal dominant chondrodysplasia punctata + 0
        rhizomelic chondrodysplasia punctata + 5
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      musculoskeletal system disease 8271
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2303
              osteochondrodysplasia 860
                chondrodysplasia punctata 9
                  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 + 2
                  autosomal dominant chondrodysplasia punctata + 0
                  rhizomelic chondrodysplasia punctata + 5
paths to the root