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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:Ellis-Van Creveld syndrome
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Accession:DOID:12714 term browser browse the term
Definition:A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either the EVC or EVC2 gene on chromosome 4p16.2. (DO)
Synonyms:exact_synonym: Chondroectodermal Dysplasia;   EVC;   Ellis Van Creveld dysplasia;   chondroectodermal dysplasias;   mesoectodermal dysplasia;   mesoectodermal dysplasias
 primary_id: MESH:D004613
 alt_id: OMIM:225500
 xref: GARD:1301;   ICD10CM:Q77.6;   ICD9CM:756.55;   NCI:C84684
For additional species annotation, visit the Alliance of Genome Resources.

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Ellis-Van Creveld syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add1 adducin 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chrNW_004936477:20,695,109...20,766,053
Ensembl chrNW_004936477:20,691,951...20,766,152 		JBrowse link
G Ccdc39 coiled-coil domain 39 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:21131972 PMID:23255504 PMID:24498942 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936566:2,610,756...2,663,657 JBrowse link
G Cytl1 cytokine like 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chrNW_004936477:17,508,833...17,512,608
Ensembl chrNW_004936477:17,508,823...17,512,663 		JBrowse link
G Evc EvC ciliary complex subunit 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome OMIM
ClinVar		 PMID:7628126 PMID:7635486 PMID:9066272 PMID:9536098 PMID:10700162 More... NCBI chrNW_004936477:17,940,792...17,992,996
Ensembl chrNW_004936477:17,937,677...17,993,727 		JBrowse link
G Evc2 EvC ciliary complex subunit 2 susceptibility ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome
DNA:mutations		 OMIM
ClinVar
RGD		 PMID:7218275 PMID:9536098 PMID:12468274 PMID:12571802 PMID:16199547 More... RGD:1600212 NCBI chrNW_004936477:17,835,479...17,938,014
Ensembl chrNW_004936477:17,837,964...17,937,975 		JBrowse link
G Fam193a family with sequence similarity 193 member A ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chrNW_004936477:20,874,889...20,964,328
Ensembl chrNW_004936477:20,871,241...20,964,352 		JBrowse link
G Haus3 HAUS augmin like complex subunit 3 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chrNW_004936477:21,250,707...21,265,997
Ensembl chrNW_004936477:21,241,328...21,265,988 		JBrowse link
G Hgfac HGF activator ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chrNW_004936477:20,291,791...20,298,764
Ensembl chrNW_004936477:20,291,852...20,298,764 		JBrowse link
G LOC101966195 huntingtin ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chrNW_004936477:20,443,101...20,577,167
Ensembl chrNW_004936477:20,443,113...20,577,071
Ensembl chrNW_004936477:20,443,113...20,577,071 		JBrowse link
G Lrpap1 LDL receptor related protein associated protein 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chrNW_004936477:20,234,582...20,250,756
Ensembl chrNW_004936477:20,234,533...20,250,751 		JBrowse link
G Lyar Ly1 antibody reactive ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chrNW_004936477:16,934,401...16,958,722 JBrowse link
G Mfsd10 major facilitator superfamily domain containing 10 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chrNW_004936477:20,691,433...20,694,513 JBrowse link
G Msantd1 Myb/SANT DNA binding domain containing 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chrNW_004936477:20,431,866...20,438,330
Ensembl chrNW_004936477:20,431,861...20,440,848 		JBrowse link
G Msx1 msh homeobox 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chrNW_004936477:17,406,551...17,413,615
Ensembl chrNW_004936477:17,409,191...17,412,919 		JBrowse link
G Mxd4 MAX dimerization protein 4 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chrNW_004936477:21,233,026...21,246,202
Ensembl chrNW_004936477:21,235,288...21,246,202 		JBrowse link
G Nop14 NOP14 nucleolar protein ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chrNW_004936477:20,668,817...20,689,931
Ensembl chrNW_004936477:20,668,688...20,691,694 		JBrowse link
G Nsg1 neuronal vesicle trafficking associated 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chrNW_004936477:17,025,057...17,046,353
Ensembl chrNW_004936477:17,025,044...17,046,014 		JBrowse link
G Otop1 otopetrin 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chrNW_004936477:16,876,725...16,899,007
Ensembl chrNW_004936477:16,876,725...16,899,007 		JBrowse link
G Poln DNA polymerase nu ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chrNW_004936477:21,268,236...21,396,526
Ensembl chrNW_004936477:21,268,244...21,396,256 		JBrowse link
G Rgs12 regulator of G protein signaling 12 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chrNW_004936477:20,300,528...20,388,212
Ensembl chrNW_004936477:20,300,521...20,388,221
Ensembl chrNW_004936477:20,300,521...20,388,221 		JBrowse link
G Rnf4 ring finger protein 4 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chrNW_004936477:21,025,040...21,055,821 JBrowse link
G Sh3bp2 SH3 domain binding protein 2 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chrNW_004936477:20,774,386...20,794,958
Ensembl chrNW_004936477:20,773,016...20,807,722 		JBrowse link
G Stk32b serine/threonine kinase 32B ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chrNW_004936477:17,534,264...17,813,224
Ensembl chrNW_004936477:17,533,935...17,812,468 		JBrowse link
G Stx18 syntaxin 18 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chrNW_004936477:17,046,508...17,093,032
Ensembl chrNW_004936477:17,047,745...17,161,655 		JBrowse link
G Tmem128 transmembrane protein 128 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chrNW_004936477:16,912,070...16,922,788
Ensembl chrNW_004936477:16,911,813...16,922,770 		JBrowse link
G Tnip2 TNFAIP3 interacting protein 2 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chrNW_004936477:20,810,188...20,841,537
Ensembl chrNW_004936477:20,834,849...20,841,535 		JBrowse link
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:25741868 NCBI chrNW_004936525:115,614...174,641
Ensembl chrNW_004936525:115,479...174,694 		JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936493:11,374,681...11,435,792
Ensembl chrNW_004936493:11,374,671...11,436,233 		JBrowse link
G Zbtb49 zinc finger and BTB domain containing 49 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chrNW_004936477:16,962,462...16,982,005
Ensembl chrNW_004936477:16,963,295...16,982,095 		JBrowse link
G Zfyve28 zinc finger FYVE-type containing 28 ISO ClinVar Annotator: match by term: Ellis-van Creveld syndrome ClinVar PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 More... NCBI chrNW_004936477:21,103,336...21,225,497
Ensembl chrNW_004936477:21,103,323...21,224,468 		JBrowse link
asphyxiating thoracic dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:26077881 NCBI chrNW_004936508:8,093,804...8,117,467
Ensembl chrNW_004936508:8,093,804...8,116,877 		JBrowse link
G Csrnp3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004936469:13,628,830...13,808,970
Ensembl chrNW_004936469:13,631,182...13,770,257 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 | ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:26874042 More... NCBI chrNW_004936551:4,584,438...4,913,829
Ensembl chrNW_004936551:4,584,438...4,913,825 		JBrowse link
G Dync2i1 dynein 2 intermediate chain 1 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29068549 NCBI chrNW_004936856:724,863...792,490
Ensembl chrNW_004936856:725,076...792,725 		JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:9536098 PMID:17576681 PMID:26077881 PMID:26130459 PMID:28492532 More... NCBI chrNW_004936508:8,119,733...8,149,022
Ensembl chrNW_004936508:8,118,589...8,149,035 		JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:19251731 PMID:25741868 PMID:28492532 PMID:29068549 NCBI chrNW_004936477:17,835,479...17,938,014
Ensembl chrNW_004936477:17,837,964...17,937,975 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004936469:13,538,349...13,576,608
Ensembl chrNW_004936469:13,538,258...13,576,657 		JBrowse link
G Ift140 intraflagellar transport 140 ISO OMIM:208500 MouseDO NCBI chrNW_004936694:2,344,448...2,419,396
Ensembl chrNW_004936694:2,344,283...2,423,520 		JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936493:5,108,437...5,145,160
Ensembl chrNW_004936493:5,108,437...5,145,160 		JBrowse link
G Ift80 intraflagellar transport 80 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29068549 NCBI chrNW_004936708:238,302...362,537
Ensembl chrNW_004936708:238,268...362,519 		JBrowse link
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:25741868 PMID:28492532 PMID:28600779 PMID:29068549 NCBI chrNW_004936526:2,254,463...2,282,785
Ensembl chrNW_004936526:2,254,449...2,282,785 		JBrowse link
G Nek1 NIMA related kinase 1 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 ClinVar PMID:25741868 NCBI chrNW_004936516:1,508,800...1,666,841
Ensembl chrNW_004936516:1,508,811...1,666,869 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004936469:13,194,769...13,345,979
Ensembl chrNW_004936469:13,256,925...13,345,978 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004936469:13,872,701...14,019,170
Ensembl chrNW_004936469:13,872,701...13,971,005 		JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004936469:14,072,182...14,180,552
Ensembl chrNW_004936469:14,101,868...14,179,998 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chrNW_004936469:13,063,971...13,153,030
Ensembl chrNW_004936469:13,064,043...13,152,974 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome | ClinVar Annotator: match by term: Infantile thoracic dystrophy ClinVar PMID:9536098 PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 More... NCBI chrNW_004936469:13,365,168...13,454,340
Ensembl chrNW_004936469:13,365,087...13,454,340 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:22019273 PMID:23559409 PMID:23683095 PMID:25741868 PMID:26275793 More... NCBI chrNW_004936482:6,863,592...6,937,810
Ensembl chrNW_004936482:6,863,571...6,937,979 		JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:28332779 More... NCBI chrNW_004936493:11,374,681...11,435,792
Ensembl chrNW_004936493:11,374,671...11,436,233 		JBrowse link
asphyxiating thoracic dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift80 intraflagellar transport 80 ISO ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 More... NCBI chrNW_004936708:238,302...362,537
Ensembl chrNW_004936708:238,268...362,519 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9495
      ectodermal dysplasia 506
        Ellis-Van Creveld syndrome 47
          Jeune Syndrome Situs Inversus 0
          asphyxiating thoracic dystrophy 1 19
          asphyxiating thoracic dystrophy 2 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14119
      nervous system disease 12342
        Neurologic Manifestations 9048
          sensory system disease 6287
            skin disease 3580
              Genetic Skin Diseases 1737
                ectodermal dysplasia 506
                  Ellis-Van Creveld syndrome 47
                    Jeune Syndrome Situs Inversus 0
                    asphyxiating thoracic dystrophy 1 19
                    asphyxiating thoracic dystrophy 2 1
paths to the root