ONTOLOGY REPORT - ANNOTATIONS


Term:Norman-Roberts syndrome
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Accession:DOID:0060902 term browser browse the term
Definition:A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22. (DO)
Synonyms:exact_synonym: LIS2;   Lissencephaly 2;   Lissencephaly 2 (Norman-Roberts Type);   Lissencephaly syndrome, Norman-Roberts type;   Norman Roberts lissencephaly syndrome
 primary_id: MESH:C537848
 alt_id: OMIM:257320;   RDO:0003758
 xref: ORDO:89844
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Norman-Roberts syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Reln reelin JBrowse link 4 9,347,533 9,774,257 RGD:7240710
RGD:8554872
RGD:13207512

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Norman-Roberts syndrome 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            complex cortical dysplasia with other brain malformations 420
              Malformations of Cortical Development, Group II 128
                lissencephaly 51
                  Norman-Roberts syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.