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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:asphyxiating thoracic dystrophy 4
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Accession:DOID:0110088 term browser browse the term
Definition:An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24. (DO)
Synonyms:exact_synonym: ATD4;   SRTD4;   short-rib thoracic dysplasia 4 with or without polydactyly
 broad_synonym: TTC21B-related disorder
 primary_id: OMIM:613819
For additional species annotation, visit the Alliance of Genome Resources.


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asphyxiating thoracic dystrophy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by OMIM:613819
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 4
OMIM
ClinVar
PMID:18414213, PMID:21258341, PMID:22773737, PMID:24033266, PMID:24876116, PMID:25492405, PMID:25741868, PMID:26940125, PMID:28492532, PMID:29068549 NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      asphyxiating thoracic dystrophy 42
        asphyxiating thoracic dystrophy 4 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Skin and Connective Tissue Diseases 5476
        connective tissue disease 4103
          bone disease 3534
            bone development disease 1343
              osteochondrodysplasia 446
                asphyxiating thoracic dystrophy 42
                  asphyxiating thoracic dystrophy 4 1
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.