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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 syndrome, type 4
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17705300 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:23351400 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24265693 PMID:25097241 PMID:25377065 PMID:25525159 PMID:25741868 PMID:25818971 PMID:26047050 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26667666 PMID:27353947 PMID:27894351 PMID:28041643 PMID:28492532 PMID:28497568 PMID:28559085 PMID:29146704 PMID:29398085 PMID:29588463 PMID:30718709 PMID:31680349 PMID:31734136, 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
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Meckel syndrome, type 4 ClinVar NCBI chr 8:39,687,280...39,702,722
Ensembl chr 8:39,687,269...39,702,902
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    physical disorder 3070
      polydactyly 120
        Meckel syndrome 4 3
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      Urogenital Diseases 4317
        Female Urogenital Diseases and Pregnancy Complications 2026
          Female Urogenital Diseases 1727
            female reproductive system disease 1723
              prolapse of female genital organ 178
                enterocele 178
                  Encephalocele 21
                    Meckel syndrome 4 3
paths to the root