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- NCIT_C129727 IAO_0000115 "Autoimmune polyglandular syndrome caused by homozygous, compound heterozygous, or heterozygous mutation(s) in the AIRE gene, encoding autoimmune regulator protein. Diagnosis requires at least 2 of the 3 major clinical features: chronic mucocutaneous candidiasis, primary adrenal insufficiency, or primary hypoparathyroidism. Antibodies against type 1 interferons and interleukin 17 cytokines are almost always present. Heterozygous AIRE mutation(s) typically result in a narrower disease spectrum." @default.
- NCIT_C129727 NCIT_NHC0 "C129727" @default.
- NCIT_C129727 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C129727 NCIT_P108 "Autoimmune Polyglandular Syndrome Type 1" @default.
- NCIT_C129727 NCIT_P207 "C0085859" @default.
- NCIT_C129727 NCIT_P322 "NICHD" @default.
- NCIT_C129727 NCIT_P325 "Autoimmune polyglandular syndrome caused by homozygous, compound heterozygous, or heterozygous mutation(s) in the AIRE gene, encoding autoimmune regulator protein. Diagnosis requires at least 2 of the 3 major clinical features: chronic mucocutaneous candidiasis, primary adrenal insufficiency, or primary hypoparathyroidism. Antibodies against type 1 interferons and interleukin 17 cytokines are almost always present. Heterozygous AIRE mutation(s) typically result in a narrower disease spectrum." @default.
- NCIT_C129727 NCIT_R176 NCIT_C114319 @default.
- NCIT_C129727 NCIT_R176 NCIT_C16612 @default.
- NCIT_C129727 NCIT_R176 NCIT_C20420 @default.
- NCIT_C129727 NCIT_R176 NCIT_C54362 @default.
- NCIT_C129727 normalizedInformationContent "100" @default.
- NCIT_C129727 referenceCount "1" @default.
- NCIT_C129727 hasExactSynonym "APECED Syndrome" @default.
- NCIT_C129727 hasExactSynonym "APS1" @default.
- NCIT_C129727 hasExactSynonym "Autoimmune Polyendocrine Syndrome Type 1" @default.
- NCIT_C129727 hasExactSynonym "Autoimmune Polyendocrinopathy-candidiasis-ectodermal Dystrophy Syndrome" @default.
- NCIT_C129727 hasExactSynonym "Autoimmune Polyglandular Syndrome Type 1" @default.
- NCIT_C129727 hasExactSynonym "Polyglandular Autoimmune Syndrome Type 1" @default.
- NCIT_C129727 inSubset NCIT_C118467 @default.
- NCIT_C129727 inSubset NCIT_C90259 @default.
- NCIT_C129727 type Class @default.
- NCIT_C129727 isDefinedBy ncit.owl @default.
- NCIT_C129727 label "Autoimmune Polyglandular Syndrome Type 1" @default.
- NCIT_C129727 subClassOf Bc3950fe310b269960392927175ed8fed @default.
- NCIT_C129727 subClassOf Bd8612c1a12ab4a7330325e35e2796044 @default.
- NCIT_C129727 subClassOf NCIT_C129726 @default.
- NCIT_C129727 subClassOf NCIT_C129727 @default.
- NCIT_C129727 subClassOf NCIT_C28193 @default.
- NCIT_C129727 subClassOf NCIT_C2991 @default.
- NCIT_C129727 subClassOf NCIT_C7057 @default.