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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 1
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Accession:DOID:0110851 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 PEX7 gene on chromosome 6q23.3. (DO)
Synonyms:exact_synonym: CDPR;   Chondrodystrophia calcificans punctata;   PBD9;   PEROXISOME BIOGENESIS DISORDER 9;   RCDP1
 primary_id: MESH:C531651
 alt_id: OMIM:215100;   RDO:0000077
 xref: GARD:6049;   ORDO:309789
For additional species annotation, visit the Alliance of Genome Resources.


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rhizomelic chondrodysplasia punctata type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by OMIM:215100
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 1
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:12915479 RGD:13208515 NCBI chr 1:15,311,768...15,374,702
Ensembl chr 1:15,311,770...15,374,850
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    syndrome 7036
      chondrodysplasia punctata 7
        rhizomelic chondrodysplasia punctata 4
          rhizomelic chondrodysplasia punctata type 1 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      musculoskeletal system disease 5736
        connective tissue disease 4135
          bone disease 3505
            bone development disease 1305
              osteochondrodysplasia 442
                chondrodysplasia punctata 7
                  rhizomelic chondrodysplasia punctata 4
                    rhizomelic chondrodysplasia punctata type 1 1
paths to the root