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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

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Path 1
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  disease 14759
    syndrome 4210
      Norman-Roberts syndrome 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            complex cortical dysplasia with other brain malformations 416
              Malformations of Cortical Development, Group II 128
                lissencephaly 51
                  Norman-Roberts syndrome 1
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