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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
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: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:9090381 PMID:9090382 PMID:9090383 PMID:9536098 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 ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:215100
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 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: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 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 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 ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 OMIM
ClinVar
PMID:26220973 NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431
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 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 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 OMIM:302960
OMIM
ClinVar
PMID:1355069 PMID:7677157 PMID:10391218 PMID:10391219 PMID:10942423 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 17251
    syndrome 8148
      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 17251
    disease of anatomical entity 16595
      musculoskeletal system disease 6446
        connective tissue disease 4432
          bone disease 3115
            bone development disease 1424
              osteochondrodysplasia 478
                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