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RGD uses the Human Disease Ontology (DO, 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 3
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Accession:DOID:0070117 term browser browse the term
Definition:A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of TMEM67 on chromosome 8q22.1. (DO)
Synonyms:exact_synonym: MKS3;   Meckel syndrome type 3;   Meckel-Gruber Syndrome, Type 3
 primary_id: MESH:C536132
 alt_id: OMIM:607361
For additional species annotation, visit the Alliance of Genome Resources.

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Meckel syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 ISO
ClinVar Annotator: match by OMIM:607361
ClinVar Annotator: match by term: Meckel syndrome type 3
DNA:missense mutations, splice-site mutation:exon:multiple
DNA:missense mutations:exon: p.M252T (755T>C), p.R440Q (1319G>A), p.L966P (2897T>C) (human)
DNA:missense mutations: :p.M252T (c.755T>C), p.R441C (c.1392C>T) (human)
DNA:missense mutation:exon:p.R549C (c.1645C>T) (human)
DNA:missense mutation:exon:p.P394L (rat)
DNA:deletions, missense mutation, splice-site mutations: :multiple
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 3
ClinVar Annotator: match by term: Meckel syndrome, type 3
PMID:2929661, PMID:9375913, PMID:10508989, PMID:16415887, PMID:16541367, PMID:17160906, PMID:17185389, PMID:17377820, PMID:17397051, PMID:18327255, PMID:18414213, PMID:19058225, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21633164, PMID:21866095, PMID:22121117, PMID:23351400, PMID:23559409, PMID:25326635, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:26467025, PMID:26729329, PMID:27491411, PMID:28289063, PMID:28431631, PMID:28492532, PMID:28497568, PMID:28973083, PMID:29127258, PMID:29891882, PMID:29974258, PMID:30311386, PMID:17397051, PMID:17377820, PMID:23351400, PMID:26191240, PMID:16415887, PMID:16415887, PMID:19211713 RGD:11063991, RGD:11068761, RGD:11535078, RGD:11535080, RGD:11535082, RGD:11535082, RGD:11535945 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      ciliopathy 236
        Meckel syndrome 30
          Meckel syndrome 3 1
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 3 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.