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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:Autoinflammation with Pulmonary and Cutaneous Vasculitis
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Accession:DOID:9005765 term browser browse the term
Definition:A disorder of immune dysregulation manifest as skin lesions (petechiae and purpura) appearing soon after birth followed by progressive pulmonary involvement causing restrictive lung disease and respiratory insufficiency. Caused by heterozygous mutation in the HCK gene on chromosome 20q11.
Synonyms:exact_synonym: AIPCV
 primary_id: MIM:620296


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Autoinflammation with Pulmonary and Cutaneous Vasculitis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hck HCK proto-oncogene, Src family tyrosine kinase ISO ClinVar Annotator: match by term: Autoinflammation with pulmonary and cutaneous vasculitis OMIM
ClinVar		 PMID:34536415 NCBI chr 3:141,571,587...141,614,696
Ensembl chr 3:141,571,587...141,614,693 		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
            Autoinflammation with Pulmonary and Cutaneous 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
                  Autoinflammation with Pulmonary and Cutaneous Vasculitis 1
paths to the root