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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
 broad_synonym: RELN-RELATED CONDITION
 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 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 chrNW_004936479:20,168,991...20,198,440
Ensembl chrNW_004936479:20,169,016...20,198,411 		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 chrNW_004936479:20,198,417...20,210,160
Ensembl chrNW_004936479:20,198,417...20,210,202 		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 chrNW_004936479:20,150,738...20,167,765
Ensembl chrNW_004936479:20,148,632...20,168,130 		JBrowse link
G Reln reelin ISO ClinVar Annotator: match by term: Norman-Roberts syndrome | ClinVar Annotator: match by term: RELN-related condition OMIM
ClinVar		 PMID:7682675 PMID:9536098 PMID:10973257 PMID:11748497 PMID:14515139 More... NCBI chrNW_004936479:19,628,488...20,088,278
Ensembl chrNW_004936479:19,628,940...20,087,250 		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 chrNW_004936479:20,104,625...20,145,392
Ensembl chrNW_004936479:20,104,595...20,144,601 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9491
      Norman-Roberts syndrome 5
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          monogenic disease 9607
            autosomal genetic disease 8891
              autosomal dominant disease 5828
                complex cortical dysplasia with other brain malformations 1547
                  Malformations of Cortical Development, Group II 183
                    lissencephaly 112
                      Norman-Roberts syndrome 5
paths to the root