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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;   Norman Roberts lissencephaly syndrome;   lissencephaly 2;   lissencephaly 2 (Norman-Roberts type);   lissencephaly syndrome, Norman-Roberts type
 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 15984
    syndrome 6094
      Norman-Roberts syndrome 1
Path 2
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  disease 15984
    Developmental Diseases 9281
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8095
        genetic disease 7613
          monogenic disease 5382
            autosomal genetic disease 4348
              autosomal dominant disease 2713
                complex cortical dysplasia with other brain malformations 524
                  Malformations of Cortical Development, Group II 133
                    lissencephaly 59
                      Norman-Roberts syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.