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ONTOLOGY REPORT - ANNOTATIONS


Term:asphyxiating thoracic dystrophy 1
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Accession:DOID:0110085 term browser browse the term
Definition:An asphyxiating thoracic dystrophy associated with variation in the region 15q13. (DO)
Synonyms:exact_synonym: ATD1;   SHORT-RIB THORACIC DYSPLASIA 1 WITH OR WITHOUT POLYDACTYLY;   SRTD1;   asphyxiating thoracic chondrodystrophy;   asphyxiating thoracic dysplasia;   chondroectodermal dysplasia-like syndrome;   infantile thoracic dystrophy;   thoracic asphyxiant dystrophy
 primary_id: MESH:C537571
 alt_id: OMIM:208500
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asphyxiating thoracic dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcg5 ATP binding cassette subfamily G member 5 JBrowse link 6 7,935,771 7,961,207 RGD:8554872
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 JBrowse link 6 7,900,962 7,933,795 RGD:8554872
G Ift140 intraflagellar transport 140 JBrowse link 10 14,373,668 14,461,509 RGD:13592920
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15610
    syndrome 5800
      Ellis-Van Creveld syndrome 11
        asphyxiating thoracic dystrophy 1 5
Path 2
Term Annotations click to browse term
  disease 15610
    Developmental Diseases 8988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7804
        genetic disease 7299
          monogenic disease 5000
            autosomal genetic disease 3981
              autosomal recessive disease 2198
                Ellis-Van Creveld syndrome 11
                  asphyxiating thoracic dystrophy 1 5
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.