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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 the CC2D2A gene 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


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meckel syndrome, type 6		 OMIM
CTD
ClinVar		 PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Meckel syndrome, type 6 ClinVar PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 More... NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Meckel syndrome, type 6 ClinVar PMID:16199547 PMID:21462283 PMID:21565611 PMID:23169490 PMID:25741868 More... NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      ciliopathy 1024
        Meckel syndrome 53
          Meckel syndrome 6 3
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Urogenital Diseases 5233
        Female Urogenital Diseases and Pregnancy Complications 2457
          Female Urogenital Diseases 2004
            female reproductive system disease 2001
              prolapse of female genital organ 193
                enterocele 193
                  Encephalocele 30
                    Meckel syndrome 6 3
paths to the root