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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 16035
    syndrome 7010
      Norman-Roberts syndrome 1
Path 2
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          monogenic disease 5719
            autosomal genetic disease 4736
              autosomal dominant disease 3040
                complex cortical dysplasia with other brain malformations 750
                  Malformations of Cortical Development, Group II 137
                    lissencephaly 64
                      Norman-Roberts syndrome 1
paths to the root