.
X-linked chondrodysplasia punctata 1 - Ontology Report - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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:X-linked chondrodysplasia punctata 1
go back to main search page
Accession:DOID:0060292 term browser browse the term
Definition:A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, and that has_material_basis_in a mutation in the ARSE gene on chromosome Xp22. (DO)
Synonyms:exact_synonym: Brachytelephalangic Chondrodysplasia Punctata;   CDPX1;   CPXR;   X-linked recessive chondrodysplasia punctata 1;   arylsulfatase E deficiency;   chondrodystrophia calcificans congenita
 related_synonym: brachytelephalangic chondrodysplasia punctata, autosomal
 primary_id: MESH:C580533
 alt_id: MIM:302950;   MIM:602497
 xref: ICD10CM:Q77.3;   ORDO:35173

Please select species to view GViewer data.

show annotations for term's descendants           Sort by:
X-linked chondrodysplasia punctata 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G ARSD arylsulfatase D ISO ClinVar Annotator: match by term: Chondrodysplasia punctata, brachytelephalangic, autosomal | ClinVar Annotator: match by term: X-linked chondrodysplasia punctata 1 ClinVar PMID:9497243 PMID:12567415 PMID:23470839 PMID:28492532 NCBI chr  X:1,108,962...1,136,238
Ensembl chr  X:1,108,267...1,133,167 		JBrowse link
G D ARSD arylsulfatase D ISO ClinVar Annotator: match by term: Chondrodysplasia punctata, brachytelephalangic, autosomal | ClinVar Annotator: match by term: X-linked chondrodysplasia punctata 1 ClinVar PMID:9497243 PMID:12567415 PMID:23470839 PMID:28492532 NCBI chr  X:1,516,417...1,535,487 JBrowse link
G B ARSD arylsulfatase D ISO ClinVar Annotator: match by term: Chondrodysplasia punctata, brachytelephalangic, autosomal | ClinVar Annotator: match by term: X-linked chondrodysplasia punctata 1 ClinVar PMID:9497243 PMID:12567415 PMID:23470839 PMID:28492532 Ensembl chr  X:2,858,431...2,919,756 JBrowse link
G H ARSD arylsulfatase D IAGP ClinVar Annotator: match by term: Chondrodysplasia punctata, brachytelephalangic, autosomal
ClinVar Annotator: match by term: Chondrodysplasia punctata, brachytelephalangic, autosomal | ClinVar Annotator: match by term: X-linked chondrodysplasia punctata 1 		ClinVar PMID:9497243 PMID:12567415 PMID:23470839 PMID:28492532 NCBI chr  X:2,903,972...2,929,339
Ensembl chr  X:2,903,972...2,929,349 		JBrowse link
G P ARSE arylsulfatase E (chondrodysplasia punctata 1) ISO ClinVar Annotator: match by term: Chondrodysplasia punctata, brachytelephalangic, autosomal | ClinVar Annotator: match by term: X-linked chondrodysplasia punctata 1 OMIM
ClinVar		 PMID:1557308 PMID:2722194 PMID:7720070 PMID:9409863 PMID:9497243 More... NCBI chr  X:131,769...156,083
Ensembl chr  X:131,773...155,841 		JBrowse link
G N Arsl arylsulfatase L ISO ClinVar Annotator: match by term: Chondrodysplasia punctata, brachytelephalangic, autosomal | ClinVar Annotator: match by term: X-linked chondrodysplasia punctata 1 OMIM
ClinVar		 PMID:1557308 PMID:2722194 PMID:7720070 PMID:9409863 PMID:9497243 More... NCBI chrNW_004624834:1,307,539...1,331,411
Ensembl chrNW_004624834:1,308,159...1,331,463 		JBrowse link
G G ARSL arylsulfatase L ISO ClinVar Annotator: match by term: Chondrodysplasia punctata, brachytelephalangic, autosomal | ClinVar Annotator: match by term: X-linked chondrodysplasia punctata 1 OMIM
ClinVar		 PMID:1557308 PMID:2722194 PMID:7720070 PMID:9409863 PMID:9497243 More... NCBI chr  X:1,141,316...1,168,690 JBrowse link
G D ARSL arylsulfatase L ISO ClinVar Annotator: match by term: Chondrodysplasia punctata, brachytelephalangic, autosomal | ClinVar Annotator: match by term: X-linked chondrodysplasia punctata 1 OMIM
ClinVar		 PMID:1557308 PMID:2722194 PMID:7720070 PMID:9409863 PMID:9497243 More... NCBI chr  X:1,536,341...1,558,782 JBrowse link
G B ARSL arylsulfatase L ISO ClinVar Annotator: match by term: Chondrodysplasia punctata, brachytelephalangic, autosomal | ClinVar Annotator: match by term: X-linked chondrodysplasia punctata 1 OMIM
ClinVar		 PMID:1557308 PMID:2722194 PMID:7720070 PMID:9409863 PMID:9497243 More... Ensembl chr  X:2,858,431...2,919,756 JBrowse link
G C Arsl arylsulfatase L ISO ClinVar Annotator: match by term: Chondrodysplasia punctata, brachytelephalangic, autosomal | ClinVar Annotator: match by term: X-linked chondrodysplasia punctata 1 OMIM
ClinVar		 PMID:1557308 PMID:2722194 PMID:7720070 PMID:9409863 PMID:9497243 More... NCBI chrNW_004955499:1,751,663...1,773,112
Ensembl chrNW_004955499:1,747,649...1,773,110 		JBrowse link
G R 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 2:120,966,992...120,975,015
Ensembl chr 2:119,038,921...119,046,846 		JBrowse link
G H ARSL arylsulfatase L IAGP
EXP 		ClinVar Annotator: match by term: X-linked chondrodysplasia punctata 1
ClinVar Annotator: match by term: Chondrodysplasia punctata, brachytelephalangic, autosomal | ClinVar Annotator: match by term: X-linked chondrodysplasia punctata 1
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:1557308 PMID:2722194 PMID:7720070 PMID:9409863 PMID:9497243 More... NCBI chr  X:2,934,521...2,968,245
Ensembl chr  X:2,934,045...2,968,475 		JBrowse link
G N Ebp EBP cholestenol delta-isomerase ISO OMIM:302950 | OMIM:302960 MouseDO NCBI chrNW_004624893:340,843...346,560
Ensembl chrNW_004624893:341,129...347,717 		JBrowse link
G G EBP EBP cholestenol delta-isomerase ISO OMIM:302950 | OMIM:302960 MouseDO NCBI chr  X:45,652,398...45,660,551
Ensembl chr  X:45,653,356...45,660,291 		JBrowse link
G P EBP EBP cholestenol delta-isomerase ISO OMIM:302950 | OMIM:302960 MouseDO NCBI chr  X:42,670,592...42,678,571
Ensembl chr  X:42,670,633...42,678,570 		JBrowse link
G S Ebp EBP cholestenol delta-isomerase ISO OMIM:302950 | OMIM:302960 MouseDO NCBI chrNW_004936721:508,716...515,968
Ensembl chrNW_004936721:509,374...515,918 		JBrowse link
G D EBP cholestenol delta-isomerase ISO OMIM:302950 | OMIM:302960 MouseDO NCBI chr  X:41,774,857...41,779,474
Ensembl chr  X:41,762,692...41,779,476 		JBrowse link
G B EBP EBP cholestenol delta-isomerase ISO OMIM:302950 | OMIM:302960 MouseDO NCBI chr  X:40,820,042...40,826,957 JBrowse link
G C Ebp EBP cholestenol delta-isomerase ISO OMIM:302950 | OMIM:302960 MouseDO NCBI chrNW_004955543:92,553...98,370
Ensembl chrNW_004955543:92,122...98,370 		JBrowse link
G R Ebp EBP, cholestenol delta-isomerase ISS OMIM:302950 | OMIM:302960 MouseDO NCBI chr  X:16,971,372...16,977,782
Ensembl chr  X:14,299,448...14,305,826 		JBrowse link
G M Ebp EBP cholestenol delta-isomerase IAGP OMIM:302950 | OMIM:302960 MouseDO NCBI chr  X:8,051,568...8,059,751
Ensembl chr  X:8,051,568...8,059,751 		JBrowse link
G H EBP EBP cholestenol delta-isomerase ISS OMIM:302950 | OMIM:302960 MouseDO NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716 		JBrowse link
G P LOC100624032 arylsulfatase D ISO ClinVar Annotator: match by term: Chondrodysplasia punctata, brachytelephalangic, autosomal | ClinVar Annotator: match by term: X-linked chondrodysplasia punctata 1 ClinVar PMID:9497243 PMID:12567415 PMID:23470839 PMID:28492532 NCBI chr  X:107,992...125,985
Ensembl chr  X:107,993...125,958 		JBrowse link
G N Nsdhl NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO OMIM:302950 | OMIM:302960 MouseDO NCBI chrNW_004624883:4,039,876...4,062,309
Ensembl chrNW_004624883:4,039,898...4,066,123 		JBrowse link
G G NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO OMIM:302950 | OMIM:302960 MouseDO NCBI chr  X:127,342,788...127,389,117
Ensembl chr  X:127,342,850...127,390,536 		JBrowse link
G P NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO OMIM:302950 | OMIM:302960 MouseDO NCBI chr  X:123,906,130...123,921,935
Ensembl chr  X:123,906,199...123,929,117 		JBrowse link
G S Nsdhl NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO OMIM:302950 | OMIM:302960 MouseDO NCBI chrNW_004936714:246,574...273,930
Ensembl chrNW_004936714:246,551...273,912 		JBrowse link
G D NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO OMIM:302950 | OMIM:302960 MouseDO NCBI chr  X:120,720,118...120,754,573
Ensembl chr  X:120,720,183...120,754,143 		JBrowse link
G B NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO OMIM:302950 | OMIM:302960 MouseDO NCBI chr  X:142,405,340...142,443,723
Ensembl chr  X:152,324,553...152,362,931 		JBrowse link
G C Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO OMIM:302950 | OMIM:302960 MouseDO NCBI chrNW_004955498:8,135,897...8,161,775
Ensembl chrNW_004955498:8,135,897...8,161,775 		JBrowse link
G R Nsdhl NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISS OMIM:302950 | OMIM:302960 MouseDO NCBI chr  X:155,817,301...155,848,224
Ensembl chr  X:150,775,080...150,807,142 		JBrowse link
G M Nsdhl NAD(P) dependent steroid dehydrogenase-like IAGP OMIM:302950 | OMIM:302960 MouseDO NCBI chr  X:71,962,127...72,002,134
Ensembl chr  X:71,962,163...72,002,120 		JBrowse link
G H NSDHL NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISS OMIM:302950 | OMIM:302960 MouseDO NCBI chr  X:152,831,063...152,869,729
Ensembl chr  X:152,830,967...152,869,729 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 292546
    syndrome 133709
      chondrodysplasia punctata 105
        X-linked chondrodysplasia punctata 1 33
Path 2
Term Annotations click to browse term
  disease 292546
    disease of anatomical entity 276172
      musculoskeletal system disease 99812
        connective tissue disease 71902
          bone disease 52154
            bone development disease 23929
              osteochondrodysplasia 8653
                chondrodysplasia punctata 105
                  X-linked chondrodysplasia punctata 1 33
paths to the root