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RGD uses the Human Disease Ontology (DO, 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, Type 12
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Accession:DOID:9002190 term browser browse the term
Synonyms:exact_synonym: MKS12;   Meckel syndrome 12
 primary_id: OMIM:616258
 alt_id: RDO:9001646
For additional species annotation, visit the Alliance of Genome Resources.

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Meckel Syndrome, Type 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif14 kinesin family member 14 ISO ClinVar Annotator: match by term: Meckel syndrome 12 ClinVar
PMID:24128419, PMID:25741868 NCBI chr13:53,350,073...53,421,992
Ensembl chr13:53,351,717...53,420,111
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      ciliopathy 236
        Meckel syndrome 30
          Meckel Syndrome, Type 12 1
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, Type 12 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.