Search Ontology:
Human Disease

Norman-Roberts syndrome

Term ID
DOID:0060902
Synonyms
  • lissencephaly 2
  • lissencephaly syndrome, Norman-Roberts type
Definition
A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22. (2)
References
  • MESH:C537848
  • MIM:257320
  • ORDO:89844
  • SNOMEDCT_US_2023_03_01:717977003
  • UMLS_CUI:C0796089
Ontology
Human Disease   ( DOID:0060902 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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