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- NCIT_C176592 IAO_0000115 "An X-linked recessive condition caused by mutation(s) in the IKBKG gene, encoding NF-kappa-B essential modulator (NEMO). It is characterized by the onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life. Affected individuals may present with ectodermal dysplasia, including conical incisors, hypo/anhidrosis, and thin skin or hair." @default.
- NCIT_C176592 NCIT_A13 NCIT_C75607 @default.
- NCIT_C176592 NCIT_NHC0 "C176592" @default.
- NCIT_C176592 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C176592 NCIT_P108 "Ectodermal Dysplasia and Immunodeficiency 1" @default.
- NCIT_C176592 NCIT_P207 "C1846008" @default.
- NCIT_C176592 NCIT_R100 NCIT_C12219 @default.
- NCIT_C176592 NCIT_R100 NCIT_C12907 @default.
- NCIT_C176592 NCIT_R100 NCIT_C12919 @default.
- NCIT_C176592 NCIT_R108 NCIT_C3367 @default.
- NCIT_C176592 NCIT_R108 NCIT_C36278 @default.
- NCIT_C176592 NCIT_R108 NCIT_C36281 @default.
- NCIT_C176592 NCIT_R108 NCIT_C39570 @default.
- NCIT_C176592 NCIT_R108 NCIT_C7057 @default.
- NCIT_C176592 NCIT_R176 NCIT_C16612 @default.
- NCIT_C176592 NCIT_R176 NCIT_C20921 @default.
- NCIT_C176592 NCIT_R176 NCIT_C75607 @default.
- NCIT_C176592 normalizedInformationContent "100" @default.
- NCIT_C176592 referenceCount "1" @default.
- NCIT_C176592 hasExactSynonym "EDAID1" @default.
- NCIT_C176592 hasExactSynonym "Ectodermal Dysplasia and Immunodeficiency 1" @default.
- NCIT_C176592 hasExactSynonym "IKBKG/NEMO" @default.
- NCIT_C176592 hasExactSynonym "NEMO Deficiency Syndrome" @default.
- NCIT_C176592 type Class @default.
- NCIT_C176592 isDefinedBy ncit.owl @default.
- NCIT_C176592 label "Ectodermal Dysplasia and Immunodeficiency 1" @default.
- NCIT_C176592 subClassOf B3db16ea8d35c6069e6aea06151ddc4fb @default.
- NCIT_C176592 subClassOf Bc8a0cf59c2824f52b2c216de630a1dd3 @default.
- NCIT_C176592 subClassOf NCIT_C118844 @default.
- NCIT_C176592 subClassOf NCIT_C156032 @default.
- NCIT_C176592 subClassOf NCIT_C176592 @default.
- NCIT_C176592 subClassOf NCIT_C27351 @default.
- NCIT_C176592 subClassOf NCIT_C27551 @default.
- NCIT_C176592 subClassOf NCIT_C28193 @default.
- NCIT_C176592 subClassOf NCIT_C2849 @default.
- NCIT_C176592 subClassOf NCIT_C2991 @default.
- NCIT_C176592 subClassOf NCIT_C3131 @default.
- NCIT_C176592 subClassOf NCIT_C3371 @default.
- NCIT_C176592 subClassOf NCIT_C3507 @default.
- NCIT_C176592 subClassOf NCIT_C36287 @default.
- NCIT_C176592 subClassOf NCIT_C4873 @default.
- NCIT_C176592 subClassOf NCIT_C53529 @default.
- NCIT_C176592 subClassOf NCIT_C53543 @default.
- NCIT_C176592 subClassOf NCIT_C53547 @default.
- NCIT_C176592 subClassOf NCIT_C7057 @default.
- NCIT_C176592 subClassOf NCIT_C84683 @default.
- NCIT_C176592 subClassOf NCIT_C97151 @default.
- NCIT_C176592 subClassOf NCIT_C97174 @default.