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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 Infantile Enterocolitis
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Accession:DOID:9008410 term browser browse the term
Definition:Autoinflammation with infantile enterocolitis is an autosomal dominant disorder characterized by onset of recurrent flares of autoinflammation in early infancy.
Synonyms:exact_synonym: AIFEC;   SYNDROME OF ENTERCOLITIS AND AUTOINFLMMATION CAUSED BY MUTATION OF NLRC4 (SCAN4);   Syndrome Of Enterocolitis And Autoinflammation
 primary_id: OMIM:616050


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Autoinflammation with Infantile Enterocolitis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPY30 dpy-30 histone methyltransferase complex regulatory subunit ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 3:107,520,641...107,533,504
Ensembl chr 3:107,520,642...107,533,496 		JBrowse link
G MEMO1 mediator of cell motility 1 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 3:107,542,045...107,657,195
Ensembl chr 3:107,542,096...107,658,455 		JBrowse link
G NLRC4 NLR family CARD domain containing 4 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis | ClinVar Annotator: match by term: Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More... NCBI chr 3:107,358,117...107,389,557 JBrowse link
G SLC30A6 solute carrier family 30 member 6 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 3:107,387,875...107,426,330
Ensembl chr 3:107,387,860...107,426,337 		JBrowse link
G SPAST spastin ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 3:107,439,810...107,508,915
Ensembl chr 3:107,439,813...107,508,926 		JBrowse link
G SRD5A2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 3:107,840,200...107,918,351
Ensembl chr 3:107,840,200...107,918,350 		JBrowse link
G XDH xanthine dehydrogenase ISO ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis ClinVar PMID:28492532 NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,987,126...108,053,169 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      gastrointestinal system disease 6423
        gastroenteritis 513
          Enterocolitis 61
            Autoinflammation with Infantile Enterocolitis 7
Path 2
Term Annotations click to browse term
  disease 17412
    Pathological Conditions, Signs and Symptoms 11799
      Signs and Symptoms 9738
        Neurologic Manifestations 9418
          sensory system disease 6507
            skin disease 3703
              Genetic Skin Diseases 1778
                Hereditary Autoinflammatory Diseases 333
                  Autoinflammation with Infantile Enterocolitis 7
paths to the root