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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 5
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Accession:DOID:0070119 term browser browse the term
Definition:A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the RPGRIP1L gene on chromosome 16q12.2. (DO)
Synonyms:exact_synonym: MKS5;   Meckel syndrome type 5;   Meckel-Gruber syndrome, type 5
 primary_id: MESH:C566915
 alt_id: OMIM:611561



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Meckel syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgrip1l Rpgrip1-like ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meckel syndrome, type 5
OMIM
CTD
ClinVar
PMID:17558407 PMID:17558409 PMID:17960139 PMID:18414213 PMID:18565097 More... NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    syndrome 10776
      ciliopathy 1020
        Meckel syndrome 52
          Meckel syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      Urogenital Diseases 5193
        Female Urogenital Diseases and Pregnancy Complications 2425
          Female Urogenital Diseases 1975
            female reproductive system disease 1972
              prolapse of female genital organ 187
                enterocele 187
                  Encephalocele 26
                    Meckel syndrome 5 1
paths to the root