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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 2
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Accession:DOID:0070116 term browser browse the term
Definition:A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM216 gene on chromosome 11q12.2. (DO)
Synonyms:exact_synonym: MKS2;   Meckel syndrome type 2;   Meckel-Gruber syndrome, type 2
 primary_id: MESH:C536131
 alt_id: OMIM:603194
 xref: ICD10CM:Q61.9


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Meckel syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem216 transmembrane protein 216 ISO DNA:missense,frameshift,nonsense mutations:cds,splice junction:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 2 | ClinVar Annotator: match by term: Meckel syndrome, type 2		 OMIM
CTD
ClinVar
RGD		 PMID:16199547 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 More... RGD:11067331 NCBI chr19:10,516,690...10,533,663
Ensembl chr19:10,511,229...10,533,602 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      respiratory system disease 3509
        Ciliary Motility Disorders 372
          Meckel syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      Urogenital Diseases 4894
        Female Urogenital Diseases and Pregnancy Complications 2429
          Female Urogenital Diseases 1966
            female reproductive system disease 1963
              prolapse of female genital organ 195
                enterocele 195
                  Encephalocele 27
                    Meckel syndrome 2 1
paths to the root