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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: MIM:226960


show annotations for term's descendants           Sort by:
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: Epiphyseal dysplasia, microcephaly and nystagmus | ClinVar Annotator: match by term: Lowry-Wood syndrome ClinVar PMID:10189087 PMID:12605445 PMID:19288552 PMID:21474760 PMID:21474761 More... NCBI chr13:29,493,554...29,715,151
Ensembl chr13:29,493,596...29,715,146 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19055
    syndrome 11179
      Lowry Wood Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19055
    Developmental Disease 14526
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13539
        genetic disease 13201
          monogenic disease 10702
            autosomal genetic disease 9875
              autosomal dominant disease 6531
                complex cortical dysplasia with other brain malformations 1634
                  Malformations of Cortical Development, Group I 1394
                    microcephaly 1144
                      Lowry Wood Syndrome 1
paths to the root