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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 8
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Accession:DOID:0070122 term browser browse the term
Definition:A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of TCTN2 on chromosome 12q24.31. (DO)
Synonyms:exact_synonym: MKS8;   Meckel syndrome type 8;   Meckel-Gruber syndrome, type 8
 broad_synonym: TCTN2-related disorder;   TCTN2-related disorders
 primary_id: OMIM:613885
 xref: ORDO:90674
For additional species annotation, visit the Alliance of Genome Resources.


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Meckel syndrome 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a2 ATPase H+ transporting V0 subunit a2 ISO ClinVar Annotator: match by term: Meckel syndrome type 8 ClinVar PMID:25741868, PMID:28492532 NCBI chr12:37,368,321...37,398,233
Ensembl chr12:37,363,906...37,425,596
JBrowse link
G Tctn2 tectonic family member 2 ISO ClinVar Annotator: match by term: Meckel syndrome 8
ClinVar Annotator: match by OMIM:613885
ClinVar Annotator: match by term: Meckel syndrome type 8
OMIM
ClinVar
PMID:21462283, PMID:22331178, PMID:23169490, PMID:25741868, PMID:26092869, PMID:26729329, PMID:28492532 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 8 2
Path 2
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          monogenic disease 5719
            ciliopathy 236
              Meckel syndrome 30
                Meckel syndrome 8 2
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.