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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:Systemic Autoinflammatory Disease with Vasculitis
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Accession:DOID:9000447 term browser browse the term
Definition:An autosomal dominant disorder that manifests soon after birth with features such as purpuric skin rash, fever, hepatosplenomegaly, and elevated C-reactive protein (CRP). Caused by heterozygous mutation in the LYN gene on chromosome 8q13.
Synonyms:exact_synonym: LAVLI syndrome;   LYN-RELATED CONDITION;   SAIDV
 primary_id: MIM:620376


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Systemic Autoinflammatory Disease with Vasculitis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lyn LYN proto-oncogene, Src family tyrosine kinase ISO ClinVar Annotator: match by term: Autoinflammatory disease, systemic, with vasculitis | ClinVar Annotator: match by term: LAVLI SYNDROME | ClinVar Annotator: match by term: LYN-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:36122175 PMID:36932076 NCBI chr 5:16,639,512...16,755,501
Ensembl chr 5:16,639,466...16,756,868 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19055
    disease of anatomical entity 18391
      cardiovascular system disease 5515
        vascular disease 4018
          vasculitis 191
            Systemic Autoinflammatory Disease with Vasculitis 1
Path 2
Term Annotations click to browse term
  disease 19055
    Pathological Conditions, Signs and Symptoms 13535
      Signs and Symptoms 11086
        Neurologic Manifestations 10337
          sensory system disease 7249
            skin disease 4187
              Genetic Skin Diseases 1881
                Hereditary Autoinflammatory Diseases 364
                  Systemic Autoinflammatory Disease with Vasculitis 1
paths to the root