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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:9536098 PMID:11030072 PMID:17576681 PMID:24033266 PMID:24140113 PMID:25640679 PMID:25664603 PMID:25741868 PMID:26092869 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:9536098 PMID:11030072 PMID:17576681 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 16918
    syndrome 7575
      asphyxiating thoracic dystrophy 43
        short-rib thoracic dysplasia 10 with or without polydactyly 2
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      musculoskeletal system disease 6244
        connective tissue disease 4355
          bone disease 3040
            bone development disease 1371
              osteochondrodysplasia 449
                asphyxiating thoracic dystrophy 43
                  short-rib thoracic dysplasia 10 with or without polydactyly 2
paths to the root