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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 4
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Accession:DOID:0070118 term browser browse the term
Definition:A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32. (DO)
Synonyms:exact_synonym: MKS4;   Meckel syndrome type 4;   Meckel-Gruber Syndrome, Type 4
 narrow_synonym: MECKEL-LIKE CEREBRORENODIGITAL SYNDROME
 broad_synonym: CEP290-related disorder
 primary_id: MESH:C567003
 alt_id: OMIM:611134

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Meckel syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Meckel syndrome, type 4 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 More... NCBI chrNW_004936507:5,223,756...5,305,392
Ensembl chrNW_004936507:5,221,910...5,305,422 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936507:5,210,561...5,223,320
Ensembl chrNW_004936507:5,210,504...5,223,728 		JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:25741868 PMID:33791682 NCBI chrNW_004936743:1,519,531...1,535,302
Ensembl chrNW_004936743:1,517,113...1,535,329 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    physical disorder 4666
      polydactyly 354
        Meckel syndrome 4 3
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14121
      Urogenital Diseases 4493
        Female Urogenital Diseases and Pregnancy Complications 2224
          Female Urogenital Diseases 1840
            female reproductive system disease 1837
              prolapse of female genital organ 179
                enterocele 179
                  Encephalocele 26
                    Meckel syndrome 4 3
paths to the root