ONTOLOGY REPORT - ANNOTATIONS


Term:Meckel syndrome 7
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Accession:DOID:0070121 term browser browse the term
Definition:A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of NPHP3 on chromosome 3q22.1. (DO)
Synonyms:exact_synonym: Goldston syndrome;   MKS7;   Meckel like syndrome;   Meckel syndrome, type 7;   Meckel-Gruber syndrome, type 7;   renal hepatic pancreatic dysplasia, Dandy Walker cyst;   renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst
 primary_id: MESH:C537756
 alt_id: OMIM:267010;   RDO:0003651
 xref: ORDO:3032
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Meckel syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14920
    disease of cellular proliferation 5588
      Cysts 252
        Pancreatic Cyst 3
          Meckel syndrome 7 1
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        central nervous system disease 6948
          brain disease 6454
            cerebral degeneration 199
              hydrocephalus 92
                Dandy-Walker syndrome 16
                  Dandy Walker Cyst 3
                    Meckel syndrome 7 1
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