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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 2
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Accession:DOID:0110086 term browser browse the term
Definition:An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25. (DO)
Synonyms:exact_synonym: ATD2;   SRTD2;   short-rib thoracic dysplasia 2 with or without polydactyly
 primary_id: MESH:C566982
 alt_id: OMIM:611263
For additional species annotation, visit the Alliance of Genome Resources.


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asphyxiating thoracic dystrophy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift80 intraflagellar transport 80 ISO ClinVar Annotator: match by OMIM:611263
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2
OMIM
ClinVar
PMID:17468754 PMID:19610081 PMID:19648123 PMID:25741868 PMID:28492532 PMID:30767363 NCBI chr 2:165,506,878...165,600,748
Ensembl chr 2:165,505,810...165,600,748
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    syndrome 7575
      Ellis-Van Creveld syndrome 14
        asphyxiating thoracic dystrophy 2 1
Path 2
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        genetic disease 8399
          monogenic disease 6338
            autosomal genetic disease 5493
              autosomal recessive disease 3229
                Ellis-Van Creveld syndrome 14
                  asphyxiating thoracic dystrophy 2 1
paths to the root