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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 10 with or without polydactyly
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Accession:DOID:0110091 term browser browse the term
Definition:An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23. (DO)
Synonyms:exact_synonym: SRTD10
 narrow_synonym: SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY;   short-rib thoracic dysplasia 10 with polydactyly
 primary_id: OMIM:615630
For additional species annotation, visit the Alliance of Genome Resources.


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short-rib thoracic dysplasia 10 with or without polydactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly
ClinVar Annotator: match by OMIM:615630
OMIM
ClinVar
PMID:2516386, PMID:11030072, PMID:24033266, PMID:24140113, PMID:25168386, PMID:25664603, PMID:25741868, PMID:26092869, PMID:26763875, PMID:28492532, PMID:28559085, PMID:29068549 NCBI chr 6:26,390,686...26,485,459 JBrowse link
G Krtcap3 keratinocyte associated protein 3 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 10 with or without polydactyly ClinVar PMID:11030072, PMID:24140113, PMID:25664603, PMID:25741868, PMID:28492532 NCBI chr 6:26,485,126...26,486,695
Ensembl chr 6:26,485,126...26,486,695
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      asphyxiating thoracic dystrophy 42
        short-rib thoracic dysplasia 10 with or without polydactyly 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        connective tissue disease 4103
          bone disease 3534
            bone development disease 1343
              osteochondrodysplasia 446
                asphyxiating thoracic dystrophy 42
                  short-rib thoracic dysplasia 10 with or without polydactyly 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.