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;   Chondroectodermal dysplasia-like syndrome;   Infantile thoracic dystrophy;   SHORT-RIB THORACIC DYSPLASIA 1 WITH OR WITHOUT POLYDACTYLY;   SRTD1;   asphyxiating thoracic chondrodystrophy;   asphyxiating thoracic dysplasia;   thoracic asphyxiant dystrophy;   thoracic pelvic phalangeal dystrophy
 primary_id: MESH:C537571
 alt_id: OMIM:208500;   RDO:0003434
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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:8554872
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
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  disease 14920
    syndrome 4714
      Ellis-Van Creveld syndrome 11
        asphyxiating thoracic dystrophy 1 5
Path 2
Term Annotations click to browse term
  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        genetic disease 6451
          monogenic disease 3222
            autosomal genetic disease 2160
              autosomal recessive disease 1260
                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.