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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 CEP290 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
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:611134
DNA:frameshift mutation:exon:c.5489del (human)
ClinVar Annotator: match by term: Meckel syndrome type 4
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4
ClinVar Annotator: match by term: Meckel syndrome, type 4
OMIM
ClinVar
PMID:16682970, PMID:16682973, PMID:16909394, PMID:17345604, PMID:17564967, PMID:17564974, PMID:17705300, PMID:17964524, PMID:18414213, PMID:19466712, PMID:19764032, PMID:20683928, PMID:20690115, PMID:21068128, PMID:21153841, PMID:21245082, PMID:21602930, PMID:21866095, PMID:22355252, PMID:22693042, PMID:23027964, PMID:23188109, PMID:23344081, PMID:23351400, PMID:23591405, PMID:23847139, PMID:23954617, PMID:24265693, PMID:25097241, PMID:25741868, PMID:25818971, PMID:25920555, PMID:26047050, PMID:26092869, PMID:26467025, PMID:26477546, PMID:26667666, PMID:27353947, PMID:28041643, PMID:28492532, PMID:28497568, PMID:28829391, PMID:29146704, PMID:29398085, PMID:30311386, PMID:30718709, PMID:31680349, PMID:17705300 RGD:11070805 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar PMID:28492532 NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    physical disorder 996
      polydactyly 129
        Meckel syndrome 4 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Urogenital Diseases 4155
        Female Urogenital Diseases and Pregnancy Complications 1915
          Female Urogenital Diseases 1612
            female reproductive system disease 1608
              prolapse of female genital organ 193
                enterocele 193
                  Encephalocele 19
                    Meckel syndrome 4 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.