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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: MIM:611263


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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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:611263
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY		 OMIM
CTD
MouseDO
ClinVar		 PMID:9536098 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 More... NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11270
      asphyxiating thoracic dystrophy 231
        asphyxiating thoracic dystrophy 2 1
Path 2
Term Annotations click to browse term
  disease 19099
    Pathological Conditions, Signs and Symptoms 13604
      Signs and Symptoms 11163
        Neurologic Manifestations 10417
          sensory system disease 7326
            skin disease 4308
              Skin Abnormalities 1314
                ectodermal dysplasia 546
                  Ellis-Van Creveld syndrome 51
                    asphyxiating thoracic dystrophy 2 1
paths to the root