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ONTOLOGY REPORT - ANNOTATIONS


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: DOID:9007250;   OMIM:607361;   RDO:0001579
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Meckel syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:7240710
RGD:8554872
RGD:11063991
RGD:11068761
RGD:11535078
RGD:11535080
RGD:11535082
RGD:11535945

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    syndrome 5131
      ciliopathy 200
        Meckel syndrome 26
          Meckel syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      Urogenital Diseases 3950
        Female Urogenital Diseases and Pregnancy Complications 1713
          Female Urogenital Diseases 1457
            female reproductive system disease 1453
              prolapse of female genital organ 150
                enterocele 150
                  Encephalocele 15
                    Meckel syndrome 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.