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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 12
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Accession:DOID:9002190 term browser browse the term
Synonyms:exact_synonym: MKS12;   Meckel Syndrome, Type 12
 broad_synonym: KIF14-RELATED CONDITION
 primary_id: OMIM:616258


show annotations for term's descendants           Sort by:
Meckel Syndrome 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 OMIM
ClinVar		 PMID:24128419 PMID:25741868 PMID:28492532 NCBI chr 1:176,156,870...176,223,093
Ensembl chr 1:180,462,578...180,526,323 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10173
      ciliopathy 1023
        Meckel syndrome 49
          Meckel Syndrome 12 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15264
      Urogenital Diseases 4730
        Female Urogenital Diseases and Pregnancy Complications 2330
          Female Urogenital Diseases 1918
            female reproductive system disease 1915
              prolapse of female genital organ 186
                enterocele 186
                  Encephalocele 26
                    Meckel Syndrome 12 1
paths to the root