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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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Norman-Roberts syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc2 DnaJ heat shock protein family (Hsp40) member C2 ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chr 4:13,270,239...13,297,438
Ensembl chr 4:13,270,191...13,297,431
JBrowse link
G Pmpcb peptidase, mitochondrial processing subunit beta ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chr 4:13,297,583...13,310,363
Ensembl chr 4:13,297,559...13,310,367
JBrowse link
G Psmc2 proteasome 26S subunit, ATPase 2 ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chr 4:13,255,851...13,270,102
Ensembl chr 4:13,255,856...13,270,185
JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Norman-Roberts syndrome OMIM
ClinVar
RGD
PMID:1451539 PMID:2564880 PMID:7682675 PMID:9536098 PMID:10973257 More... RGD:13207512 NCBI chr 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211
JBrowse link
G Slc26a5 solute carrier family 26 member 5 ISO ClinVar Annotator: match by term: Norman-Roberts syndrome ClinVar PMID:10973257 PMID:17124408 PMID:26046367 PMID:28454995 PMID:28492532 NCBI chr 4:13,210,260...13,249,289
Ensembl chr 4:13,210,260...13,249,289
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      Norman-Roberts syndrome 5
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal dominant disease 5048
                complex cortical dysplasia with other brain malformations 1421
                  Malformations of Cortical Development, Group II 146
                    lissencephaly 115
                      Norman-Roberts syndrome 5
paths to the root