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

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Path 1
Term Annotations click to browse term
  disease 14920
    syndrome 4714
      ciliopathy 193
        Ciliary Motility Disorders 93
          Meckel syndrome 3 1
Path 2
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  disease 14920
    disease of anatomical entity 14086
      Urogenital Diseases 3913
        Female Urogenital Diseases and Pregnancy Complications 1686
          Female Urogenital Diseases 1435
            female reproductive system disease 1431
              prolapse of female genital organ 149
                enterocele 149
                  Encephalocele 14
                    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.