ONTOLOGY REPORT - ANNOTATIONS


Term:Meckel syndrome 4
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Accession:DOID:0070118 term browser browse the term
Definition:A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of CEP290 on chromosome 12q21.32. (DO)
Synonyms:exact_synonym: CEP290-RELATED DISORDER;   MKS4;   Meckel syndrome type 4;   Meckel-Gruber Syndrome, Type 4
 narrow_synonym: MECKEL-LIKE CEREBRORENODIGITAL SYNDROME
 primary_id: MESH:C567003
 alt_id: DOID:9003069;   OMIM:611134;   RDO:0015193
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Meckel syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:7240710
RGD:8554872
RGD:11070805

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Path 1
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  disease 14920
    physical disorder 746
      polydactyly 116
        Meckel syndrome 4 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 4 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.