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- NCIT_C157122 IAO_0000115 "An X-linked recessive condition caused by mutation(s) in the PHF6 gene, encoding PHD finger protein 6. It is characterized by severe intellectual disability, epilepsy, hypogonadism, hypometabolism, and obesity." @default.
- NCIT_C157122 NCIT_NHC0 "C157122" @default.
- NCIT_C157122 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C157122 NCIT_P108 "Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type" @default.
- NCIT_C157122 NCIT_P207 "C0265339" @default.
- NCIT_C157122 NCIT_P322 "Cellosaurus" @default.
- NCIT_C157122 NCIT_R176 NCIT_C101449 @default.
- NCIT_C157122 NCIT_R176 NCIT_C16612 @default.
- NCIT_C157122 NCIT_R176 NCIT_C54362 @default.
- NCIT_C157122 normalizedInformationContent "100" @default.
- NCIT_C157122 referenceCount "1" @default.
- NCIT_C157122 hasExactSynonym "BFLS" @default.
- NCIT_C157122 hasExactSynonym "Borjeson-Forssman-Lehmann Syndrome" @default.
- NCIT_C157122 hasExactSynonym "MRXSBFL" @default.
- NCIT_C157122 hasExactSynonym "Mental Retardation, Epilepsy, and Endocrine Disorders" @default.
- NCIT_C157122 hasExactSynonym "Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type" @default.
- NCIT_C157122 inSubset NCIT_C165258 @default.
- NCIT_C157122 inSubset NCIT_C192842 @default.
- NCIT_C157122 type Class @default.
- NCIT_C157122 isDefinedBy ncit.owl @default.
- NCIT_C157122 label "Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type" @default.
- NCIT_C157122 subClassOf B810350c44e4a8720c4c4a6d8d515cf6f @default.
- NCIT_C157122 subClassOf Be9cae7e6734f196948b6b1527192ec9e @default.
- NCIT_C157122 subClassOf NCIT_C157122 @default.
- NCIT_C157122 subClassOf NCIT_C2991 @default.
- NCIT_C157122 subClassOf NCIT_C3101 @default.
- NCIT_C157122 subClassOf NCIT_C4873 @default.
- NCIT_C157122 subClassOf NCIT_C53529 @default.
- NCIT_C157122 subClassOf NCIT_C53543 @default.
- NCIT_C157122 subClassOf NCIT_C53547 @default.
- NCIT_C157122 subClassOf NCIT_C7057 @default.
- NCIT_C157122 subClassOf NCIT_C84392 @default.
- NCIT_C157122 subClassOf NCIT_C85865 @default.
- NCIT_C157122 subClassOf NCIT_C89328 @default.
- NCIT_C157122 subClassOf NCIT_C89330 @default.