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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:short-rib thoracic dysplasia 13 with or without polydactyly
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Accession:DOID:0110093 term browser browse the term
Definition:An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the CEP120 gene on chromosome 5q23. (DO)
Synonyms:exact_synonym: SRTD13
 primary_id: OMIM:616300
For additional species annotation, visit the Alliance of Genome Resources.


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short-rib thoracic dysplasia 13 with or without polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep120 centrosomal protein 120 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 13 with or without polydactyly OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25361962 PMID:25741868 PMID:27208211 PMID:28492532 NCBI chr18:48,658,495...48,720,570
Ensembl chr18:48,658,495...48,720,472
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      asphyxiating thoracic dystrophy 43
        short-rib thoracic dysplasia 13 with or without polydactyly 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      musculoskeletal system disease 5637
        connective tissue disease 3651
          bone disease 2997
            bone development disease 1326
              osteochondrodysplasia 447
                asphyxiating thoracic dystrophy 43
                  short-rib thoracic dysplasia 13 with or without polydactyly 1
paths to the root