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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 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 the TMEM67 gene on chromosome 8q22.1. (DO)
Synonyms:exact_synonym: MKS3;   Meckel syndrome type 3;   Meckel-Gruber Syndrome, Type 3
 primary_id: MESH:C536132
 alt_id: MIM:607361


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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
IAGP		 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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 3 | ClinVar Annotator: match by term: Meckel syndrome, type 3		 OMIM
CTD
ClinVar
RGD		 PMID:2929661 PMID:9375913 PMID:9536098 PMID:16199547 PMID:16415887 More... RGD:11063991, RGD:11068761, RGD:11535078, RGD:11535080, RGD:11535082, RGD:11535082, RGD:11535945, RGD:329950577 NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:16415887 RGD:11535082
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19138
    disease of anatomical entity 18451
      respiratory system disease 5247
        Ciliary Motility Disorders 375
          Meckel syndrome 3 3
Path 2
Term Annotations click to browse term
  disease 19138
    disease of anatomical entity 18451
      Urogenital Diseases 5392
        Female Urogenital Diseases and Pregnancy Complications 2667
          Female Urogenital Diseases 2189
            female reproductive system disease 2186
              prolapse of female genital organ 191
                enterocele 191
                  Encephalocele 31
                    Meckel syndrome 3 3
paths to the root