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rhizomelic chondrodysplasia punctata type 5 - Ontology Report - Rat Genome Database

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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 type 5
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Accession:DOID:0110854 term browser browse the term
Definition:A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31. (DO)
Synonyms:exact_synonym: RCDP5
 xref: MIM:616716;   MONDO:0014743;   ORDO:468717

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rhizomelic chondrodysplasia punctata type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 ClinVar PMID:25741868 PMID:26100331 PMID:28492532 NCBI chrNW_004624734:2,253,931...2,311,341
Ensembl chrNW_004624734:2,254,085...2,311,177 		JBrowse link
G G DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 ClinVar PMID:25741868 PMID:26100331 PMID:28492532 NCBI chr24:79,915,719...80,008,666
Ensembl chr24:79,915,889...80,000,099 		JBrowse link
G P DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 ClinVar PMID:25741868 PMID:26100331 PMID:28492532
G S Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 ClinVar PMID:25741868 PMID:26100331 PMID:28492532 NCBI chrNW_004936835:225,879...290,160
Ensembl chrNW_004936835:225,324...289,954 		JBrowse link
G D DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 ClinVar PMID:25741868 PMID:26100331 PMID:28492532 NCBI chr 8:69,997,021...70,064,886
Ensembl chr 8:69,997,145...70,064,825 		JBrowse link
G B DYNC1H1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 ClinVar PMID:25741868 PMID:26100331 PMID:28492532 NCBI chr14:82,584,876...82,670,750
Ensembl chr14:102,406,993...102,489,475 		JBrowse link
G C Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 ClinVar PMID:25741868 PMID:26100331 PMID:28492532 NCBI chrNW_004955538:1,388,595...1,458,166
Ensembl chrNW_004955538:1,390,137...1,458,025 		JBrowse link
G R Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 ClinVar PMID:25741868 PMID:26100331 PMID:28492532 NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883 		JBrowse link
G M Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 ClinVar PMID:25741868 PMID:26100331 PMID:28492532 NCBI chr12:110,567,829...110,633,378
Ensembl chr12:110,567,886...110,633,379 		JBrowse link
G H DYNC1H1 dynein cytoplasmic 1 heavy chain 1 IAGP ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 ClinVar PMID:25741868 PMID:26100331 PMID:28492532 NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443 		JBrowse link
G N Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 OMIM
ClinVar		 PMID:7719337 PMID:10462504 PMID:17532062 PMID:20681997 PMID:25741868 More... NCBI chrNW_004624860:3,771,949...3,790,982
Ensembl chrNW_004624860:3,771,963...3,790,985 		JBrowse link
G G PEX5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 OMIM
ClinVar		 PMID:7719337 PMID:10462504 PMID:17532062 PMID:20681997 PMID:25741868 More... NCBI chr11:7,255,078...7,286,500
Ensembl chr11:7,256,182...7,274,938 		JBrowse link
G P PEX5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 OMIM
ClinVar		 PMID:7719337 PMID:10462504 PMID:17532062 PMID:20681997 PMID:25741868 More... NCBI chr 5:63,542,422...63,562,762
Ensembl chr 5:63,542,431...63,562,849 		JBrowse link
G S Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 OMIM
ClinVar		 PMID:7719337 PMID:10462504 PMID:17532062 PMID:20681997 PMID:25741868 More... NCBI chrNW_004936709:587,296...606,085
Ensembl chrNW_004936709:587,295...606,247 		JBrowse link
G D PEX5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 OMIM
ClinVar		 PMID:7719337 PMID:10462504 PMID:17532062 PMID:20681997 PMID:25741868 More... NCBI chr27:37,843,218...37,860,664
Ensembl chr27:37,809,717...37,860,376 		JBrowse link
G B PEX5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 OMIM
ClinVar		 PMID:7719337 PMID:10462504 PMID:17532062 PMID:20681997 PMID:25741868 More... NCBI chr12:7,318,637...7,340,428
Ensembl chr12:7,235,049...7,255,815 		JBrowse link
G C Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 OMIM
ClinVar		 PMID:7719337 PMID:10462504 PMID:17532062 PMID:20681997 PMID:25741868 More... NCBI chrNW_004955413:4,736,189...4,755,559
Ensembl chrNW_004955413:4,736,189...4,755,766 		JBrowse link
G R Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 OMIM
ClinVar		 PMID:7719337 PMID:10462504 PMID:17532062 PMID:20681997 PMID:25741868 More... NCBI chr 4:157,270,671...157,296,432
Ensembl chr 4:157,270,672...157,296,431 		JBrowse link
G M Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 OMIM
ClinVar		 PMID:7719337 PMID:10462504 PMID:17532062 PMID:20681997 PMID:25741868 More... NCBI chr 6:124,373,774...124,392,878
Ensembl chr 6:124,373,775...124,392,026 		JBrowse link
G H PEX5 peroxisomal biogenesis factor 5 IAGP ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 5 ClinVar
OMIM		 PMID:7719337 PMID:10462504 PMID:17532062 PMID:20681997 PMID:25741868 More... NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    syndrome 133013
      chondrodysplasia punctata 105
        rhizomelic chondrodysplasia punctata 62
          rhizomelic chondrodysplasia punctata type 5 20
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      Skin and Connective Tissue Diseases 92289
        connective tissue disease 68438
          bone disease 49930
            bone development disease 24312
              osteochondrodysplasia 9137
                chondrodysplasia punctata 105
                  rhizomelic chondrodysplasia punctata 62
                    rhizomelic chondrodysplasia punctata type 5 20
paths to the root