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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:Lowry Wood Syndrome
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Accession:DOID:9000632 term browser browse the term
Synonyms:exact_synonym: LWS;   epiphyseal dysplasia, microcephaly and nystagmus;   multiple epiphyseal dysplasia with microcephaly and retinal dystrophy
 primary_id: MESH:C537038
 alt_id: OMIM:226960
For additional species annotation, visit the Alliance of Genome Resources.


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Lowry Wood Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clasp1 cytoplasmic linker associated protein 1 ISO ClinVar Annotator: match by term: Lowry Wood syndrome
ClinVar Annotator: match by term: Lowry-wood syndrome
ClinVar PMID:21474760 PMID:21474761 PMID:21977988 PMID:25741868 PMID:26522830 PMID:29265708 NCBI chr13:34,365,038...34,584,651
Ensembl chr13:34,365,147...34,584,651
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      Lowry Wood Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal dominant disease 3034
                complex cortical dysplasia with other brain malformations 707
                  Malformations of Cortical Development, Group I 564
                    microcephaly 410
                      Lowry Wood Syndrome 1
paths to the root