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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      Norman-Roberts syndrome 1
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        genetic disease 8962
          monogenic disease 7129
            autosomal genetic disease 6277
              autosomal dominant disease 4462
                complex cortical dysplasia with other brain malformations 1194
                  Malformations of Cortical Development, Group II 141
                    lissencephaly 70
                      Norman-Roberts syndrome 1
paths to the root