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- NCIT_C173147 IAO_0000115 "An autosomal recessive condition caused by mutation(s) in the CRLF1 gene, encoding cytokine receptor-like factor 1. It is characterized by cold-induced sweating syndrome, dysmorphic features, poor sucking reflex, and temperature spikes presenting at infancy." @default.
- NCIT_C173147 NCIT_NHC0 "C173147" @default.
- NCIT_C173147 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C173147 NCIT_P108 "Crisponi/Cold-Induced Sweating Syndrome-1" @default.
- NCIT_C173147 NCIT_P207 "C1848947" @default.
- NCIT_C173147 NCIT_P322 "Cellosaurus" @default.
- NCIT_C173147 NCIT_R176 NCIT_C104950 @default.
- NCIT_C173147 NCIT_R176 NCIT_C16612 @default.
- NCIT_C173147 NCIT_R176 NCIT_C20103 @default.
- NCIT_C173147 NCIT_R176 NCIT_C20912 @default.
- NCIT_C173147 NCIT_R176 NCIT_C21295 @default.
- NCIT_C173147 normalizedInformationContent "100" @default.
- NCIT_C173147 referenceCount "1" @default.
- NCIT_C173147 hasExactSynonym "CISS1" @default.
- NCIT_C173147 hasExactSynonym "Cold-Induced Sweating Syndrome 1" @default.
- NCIT_C173147 hasExactSynonym "Crisponi Syndrome" @default.
- NCIT_C173147 hasExactSynonym "Crisponi/Cold-Induced Sweating Syndrome-1" @default.
- NCIT_C173147 hasExactSynonym "Sohar-Crisponi Syndrome" @default.
- NCIT_C173147 inSubset NCIT_C165258 @default.
- NCIT_C173147 inSubset NCIT_C192842 @default.
- NCIT_C173147 type Class @default.
- NCIT_C173147 isDefinedBy ncit.owl @default.
- NCIT_C173147 label "Crisponi/Cold-Induced Sweating Syndrome-1" @default.
- NCIT_C173147 subClassOf B78ae9187aa0221c1a63312de6307a307 @default.
- NCIT_C173147 subClassOf Bcd012d6ab314b07e620cf967dc6293b8 @default.
- NCIT_C173147 subClassOf NCIT_C173147 @default.
- NCIT_C173147 subClassOf NCIT_C28193 @default.
- NCIT_C173147 subClassOf NCIT_C2991 @default.
- NCIT_C173147 subClassOf NCIT_C7057 @default.