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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:TIMES Syndrome
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Accession:DOID:9009275 term browser browse the term
Definition:An autosomal dominant multisystem disorder characterized by considerable phenotypic variability, but overlapping features include telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature. Caused by heterozygous mutation in the LRRC8C gene on chromosome 1p22.
Synonyms:exact_synonym: TIMES;   telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature
 xref: MIM:621056



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TIMES Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrc8c leucine rich repeat containing 8 VRAC subunit C ISO OMIM NCBI chr14:4,223,901...4,315,590
Ensembl chr14:4,227,832...4,315,249
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    sensory system disease 7375
      eye disease 3722
        Eye Abnormalities 814
          TIMES Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19141
    Developmental Disease 14667
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13715
        genetic disease 13381
          monogenic disease 10935
            autosomal genetic disease 10425
              autosomal dominant disease 6779
                complex cortical dysplasia with other brain malformations 1641
                  Malformations of Cortical Development, Group I 1399
                    microcephaly 1146
                      TIMES Syndrome 1
paths to the root