ONTOLOGY REPORT - ANNOTATIONS


Term:Ellis-Van Creveld syndrome
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Accession:DOID:12714 term browser browse the term
Definition:Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed)
Synonyms:exact_synonym: Chondroectodermal Dysplasia;   Chondroectodermal Dysplasias;   EVC;   Ellis Van Creveld Dysplasia;   MESOECTODERMAL DYSPLASIA;   Mesoectodermal Dysplasias
 primary_id: MESH:D004613;   RDO:0003435
 alt_id: OMIM:225500;   RDO:0004429
 xref: GARD:1301
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Ellis-Van Creveld syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc39 coiled-coil domain containing 39 JBrowse link 2 120,278,605 120,367,829 RGD:8554872
G Evc EvC ciliary complex subunit 1 JBrowse link 14 78,213,601 78,253,266 RGD:1302823
RGD:8554872
RGD:7240710
G Evc2 EvC ciliary complex subunit 2 JBrowse link 14 78,128,620 78,212,394 RGD:1600212
RGD:8554872
RGD:7240710
G Traf3ip1 TRAF3 interacting protein 1 JBrowse link 9 98,621,499 98,658,223 RGD:8554872
G Wdr35 WD repeat domain 35 JBrowse link 6 34,094,291 34,152,048 RGD:11073852
RGD:8554872
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
asphyxiating thoracic dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ift80 intraflagellar transport 80 JBrowse link 2 165,506,878 165,600,748 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    syndrome 4218
      Ellis-Van Creveld syndrome 11
        Jeune Syndrome Situs Inversus 0
        asphyxiating thoracic dystrophy 1 5
        asphyxiating thoracic dystrophy 2 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        sensory system disease 4244
          skin disease 2253
            Skin Abnormalities 344
              ectodermal dysplasia 142
                Ellis-Van Creveld syndrome 11
                  Jeune Syndrome Situs Inversus 0
                  asphyxiating thoracic dystrophy 1 5
                  asphyxiating thoracic dystrophy 2 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.