{"orpha":730318,"name":"ITPR3-related combined immunodeficiency-ectodermal dysplasia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-730318/","orphanet_url":"https://www.orpha.net/en/disease/detail/730318","names":{"fr":{"name":"Syndrome d'immunodéficience combiné-dysplasie ectodermale associé à ITPR3","synonyms":["Syndrome de déficit immunitaire combiné-dysplasie ectodermale associé à ITPR3"]},"de":{"name":"Kombinierter Immundefekt-ektodermale Dysplasie-Syndrom, ITPR3-assoziiert"},"es":{"name":"Síndrome de inmunodeficiencia combinada-displasia ectodérmica asociado al gen ITPR3"},"it":{"name":"Sindrome immunodeficienza combinata-displasia ectodermica correlata a ITPR3"},"nl":{"name":"ITPR3-gerelateerde gecombineerde immuundeficiëntie - ectodermale dysplasie-syndroom"},"pt":{"name":"ITPR3-related combined immunodeficiency-ectodermal dysplasia syndrome"},"pl":{"name":"ITPR3-related combined immunodeficiency-ectodermal dysplasia syndrome"},"cs":{"name":"ITPR3-related combined immunodeficiency-ectodermal dysplasia syndrome"}},"xrefs":[{"source":"OMIM","code":"621254","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":331217,"name":"Syndrome with combined immunodeficiency","classifications":[156,195]}],"children":[],"genes":[{"symbol":"ITPR3","name":"inositol 1,4,5-trisphosphate receptor type 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36302985[PMID]_39270020[PMID]_39560673[PMID]","hgnc":"6182","ensembl":null,"omim":null,"loci":["6p21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}