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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: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
 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.


show annotations for term's descendants           Sort by:
 
Ellis-Van Creveld syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc39 coiled-coil domain containing 39 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia ClinVar PMID:23255504, PMID:24498942, PMID:25741868, PMID:28492532 NCBI chr 2:120,278,605...120,367,829
Ensembl chr 2:120,278,605...120,316,600
JBrowse link
G Evc EvC ciliary complex subunit 1 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Ellis-van Creveld syndrome
ClinVar Annotator: match by term: Ellis-van Creveld Syndrome
ClinVar Annotator: match by term: Chondroectodermal dysplasia
ClinVar Annotator: match by OMIM:225500
ClinVar
OMIM
PMID:7628126, PMID:7635486, PMID:9066272, PMID:10700162, PMID:10700184, PMID:14217223, PMID:17024374, PMID:18454448, PMID:18947413, PMID:19251731, PMID:19744229, PMID:19810119, PMID:19876929, PMID:20184732, PMID:22190900, PMID:23220543, PMID:24431330, PMID:25174843, PMID:25492405, PMID:25741868, PMID:26621368, PMID:28492532, PMID:28854412, PMID:29068549, PMID:29229899, PMID:29321360, PMID:31319225, PMID:31338997, PMID:10700184 RGD:1302823 NCBI chr14:78,213,601...78,253,266
Ensembl chr14:78,213,635...78,253,266
JBrowse link
G Evc2 EvC ciliary complex subunit 2 susceptibility ISO DNA:mutations
ClinVar Annotator: match by term: Ellis-van Creveld syndrome
ClinVar Annotator: match by term: Chondroectodermal dysplasia
ClinVar Annotator: match by term: Ellis-van Creveld Syndrome
ClinVar Annotator: match by OMIM:225500
ClinVar
OMIM
PMID:7218275, PMID:12468274, PMID:12571802, PMID:16404586, PMID:17024374, PMID:18454448, PMID:19251731, PMID:19810119, PMID:19876929, PMID:20184732, PMID:21199751, PMID:21815252, PMID:22190900, PMID:22406498, PMID:23026208, PMID:23220543, PMID:24033266, PMID:25047945, PMID:25174843, PMID:25326635, PMID:25500235, PMID:25525159, PMID:25741868, PMID:26580685, PMID:26748586, PMID:26818569, PMID:27168972, PMID:27280866, PMID:28492532, PMID:29068549, PMID:30311386, PMID:12571802 RGD:1600212 NCBI chr14:78,128,620...78,212,394
Ensembl chr14:78,129,749...78,211,931
JBrowse link
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia ClinVar PMID:25741868 NCBI chr 9:98,621,499...98,658,223
Ensembl chr 9:98,621,506...98,656,901
JBrowse link
G Wdr35 WD repeat domain 35 ISO DNA:snps:introns, cds:multiple (human)
ClinVar Annotator: match by term: Chondroectodermal dysplasia
ClinVar PMID:25741868, PMID:25908617 RGD:11073852 NCBI chr 6:34,094,291...34,152,048
Ensembl chr 6:34,094,306...34,151,622
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: Short-rib thoracic dysplasia 1 with or without polydactyly ClinVar PMID:26077881 NCBI chr 6:7,935,771...7,961,207
Ensembl chr 6:7,935,771...7,961,207
JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:19442771, PMID:23339108, PMID:23456818, PMID:25741868, PMID:28492532, PMID:29068549, PMID:30311386 NCBI chr 8:5,217,054...5,436,969
Ensembl chr 8:5,217,217...5,429,581
JBrowse link
G Dync2li1 dynein cytoplasmic 2 light intermediate chain 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly ClinVar PMID:26077881 NCBI chr 6:7,900,962...7,933,795
Ensembl chr 6:7,900,972...7,933,796
JBrowse link
G Ift140 intraflagellar transport 140 ISS OMIM:208500 MouseDO NCBI chr10:14,373,668...14,461,509
Ensembl chr10:14,373,679...14,461,160
JBrowse link
G Nek1 NIMA-related kinase 1 ISO ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly ClinVar PMID:25741868 NCBI chr16:32,321,010...32,439,421
Ensembl chr16:32,321,010...32,439,421
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258341 NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060
JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:23559409, PMID:23683095, PMID:25741868, PMID:28492532, PMID:28973083, PMID:29068549 NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
JBrowse link
G Wdr35 WD repeat domain 35 ISO ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome ClinVar PMID:22486404, PMID:24033266, PMID:25914204, PMID:28332779, PMID:28492532, PMID:29068549 NCBI chr 6:34,094,291...34,152,048
Ensembl chr 6:34,094,306...34,151,622
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 OMIM:611263
OMIM
ClinVar
PMID:17468754, PMID:19610081, PMID:19648123, PMID:25741868, PMID:28492532 NCBI chr 2:165,506,878...165,600,748
Ensembl chr 2:165,505,810...165,600,748
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Ellis-Van Creveld syndrome 13
        Jeune Syndrome Situs Inversus 0
        asphyxiating thoracic dystrophy 1 8
        asphyxiating thoracic dystrophy 2 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            Skin Abnormalities 658
              ectodermal dysplasia 250
                Ellis-Van Creveld syndrome 13
                  Jeune Syndrome Situs Inversus 0
                  asphyxiating thoracic dystrophy 1 8
                  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.