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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:Meckel syndrome 6
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Accession:DOID:0070120 term browser browse the term
Definition:A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of CC2D2A on chromosome 4p15.32. (DO)
Synonyms:exact_synonym: MKS6;   Meckel syndrome, type 6;   Meckel-Gruber syndrome, type 6
 broad_synonym: CC2D2A-RELATED DISORDER
 primary_id: MESH:C567365
 alt_id: OMIM:612284
For additional species annotation, visit the Alliance of Genome Resources.


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Meckel syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Meckel syndrome type 6
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:612284
ClinVar Annotator: match by term: Meckel syndrome, type 6
OMIM
ClinVar
PMID:18414213, PMID:18513680, PMID:18950740, PMID:19466712, PMID:19777577, PMID:21068128, PMID:21370303, PMID:22241855, PMID:22995991, PMID:24360807, PMID:24706459, PMID:25741868, PMID:26092869, PMID:26467025, PMID:26729329, PMID:27081510, PMID:27082236, PMID:27854218, PMID:27894351, PMID:28492532, PMID:30311386, PMID:32488064 NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Meckel syndrome type 6 ClinVar PMID:16682970, PMID:16682973, PMID:17564967, PMID:18327255, PMID:18414213, PMID:21068128, PMID:21245082, PMID:22355252, PMID:22693042, PMID:23591405, PMID:23954617, PMID:25741868, PMID:25818971, PMID:26092869, PMID:27353947, PMID:28492532, PMID:30718709 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Meckel syndrome type 6 ClinVar PMID:21462283, PMID:23169490, PMID:26729329 NCBI chr12:37,400,896...37,427,256
Ensembl chr12:37,363,906...37,425,596
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      ciliopathy 236
        Meckel syndrome 30
          Meckel syndrome 6 3
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      Urogenital Diseases 4157
        Female Urogenital Diseases and Pregnancy Complications 1916
          Female Urogenital Diseases 1612
            female reproductive system disease 1608
              prolapse of female genital organ 193
                enterocele 193
                  Encephalocele 19
                    Meckel syndrome 6 3
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.