ONTOLOGY REPORT - ANNOTATIONS


Term:Meckel syndrome 8
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Accession:DOID:0070122 term browser browse the term
Definition:A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of TCTN2 on chromosome 12q24.31. (DO)
Synonyms:exact_synonym: MKS8;   Meckel syndrome type 8;   Meckel-Gruber syndrome, type 8
 broad_synonym: TCTN2-RELATED DISORDER;   TCTN2-RELATED DISORDERS
 primary_id: OMIM:613885
 alt_id: DOID:9007868;   RDO:9000530
 xref: ORDO:90674
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Meckel syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tctn2 tectonic family member 2 JBrowse link 12 37,400,896 37,427,256 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14920
    syndrome 4714
      ciliopathy 193
        Meckel syndrome 26
          Meckel syndrome 8 1
Path 2
Term Annotations click to browse term
  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        Congenital Abnormalities 3197
          Multiple Abnormalities 1278
            ciliopathy 193
              Meckel syndrome 26
                Meckel syndrome 8 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.