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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 Reln reelin ISO ClinVar Annotator: match by OMIM:257320
ClinVar Annotator: match by term: Lissencephaly 2 (Norman-Roberts type)
ClinVar Annotator: match by term: Norman-Roberts syndrome
OMIM
ClinVar
PMID:1451539, PMID:2564880, PMID:7682675, PMID:10973257, PMID:14515139, PMID:14593429, PMID:16311013, PMID:18414213, PMID:19319887, PMID:19435634, PMID:20697953, PMID:23287318, PMID:23334996, PMID:23757202, PMID:24385848, PMID:24467814, PMID:24828792, PMID:25167861, PMID:25620207, PMID:25648840, PMID:25741868, PMID:26046367, PMID:26302956, PMID:26459092, PMID:26467025, PMID:26544041, PMID:26901136, PMID:27064498, PMID:28419454, PMID:28492532, PMID:28677532, PMID:29056246, PMID:29358611, PMID:29706646, PMID:29969175, PMID:30311386, PMID:30891068, PMID:31134136, PMID:28123028 RGD:13207512 NCBI chr 4:9,347,533...9,774,257
Ensembl chr 4:9,347,528...9,773,670
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Norman-Roberts syndrome 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                complex cortical dysplasia with other brain malformations 743
                  Malformations of Cortical Development, Group II 136
                    lissencephaly 62
                      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.