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- NCIT_C120407 IAO_0000115 "Deficiency or dysfunction of the enzyme prohormone convertase 1 associated with loss-of-function mutation(s) in the PCSK1 gene." @default.
- NCIT_C120407 NCIT_NHC0 "C120407" @default.
- NCIT_C120407 NCIT_P106 "Finding" @default.
- NCIT_C120407 NCIT_P108 "Prohormone Convertase 1 Deficiency" @default.
- NCIT_C120407 NCIT_P207 "C4054147" @default.
- NCIT_C120407 NCIT_P322 "NICHD" @default.
- NCIT_C120407 NCIT_P325 "Presumed loss-of-function mutation(s) in the PCSK1 gene, resulting in decreased activity of the enzyme prohormone convertase 1." @default.
- NCIT_C120407 NCIT_R176 NCIT_C127852 @default.
- NCIT_C120407 NCIT_R176 NCIT_C16612 @default.
- NCIT_C120407 NCIT_R176 NCIT_C21281 @default.
- NCIT_C120407 NCIT_R176 NCIT_C25804 @default.
- NCIT_C120407 NCIT_R176 NCIT_C26003 @default.
- NCIT_C120407 normalizedInformationContent "100" @default.
- NCIT_C120407 referenceCount "1" @default.
- NCIT_C120407 hasExactSynonym "PCSK1 Deficiency" @default.
- NCIT_C120407 hasExactSynonym "Prohormone Convertase 1 Deficiency" @default.
- NCIT_C120407 hasExactSynonym "Prohormone Convertase 1/3 Deficiency" @default.
- NCIT_C120407 inSubset NCIT_C118467 @default.
- NCIT_C120407 inSubset NCIT_C90259 @default.
- NCIT_C120407 type Class @default.
- NCIT_C120407 isDefinedBy ncit.owl @default.
- NCIT_C120407 label "Prohormone Convertase 1 Deficiency" @default.
- NCIT_C120407 subClassOf B1f829e27a3ddd3e4b779db7253f61f8d @default.
- NCIT_C120407 subClassOf B3f58431af2db8461be29690ff572ebf1 @default.
- NCIT_C120407 subClassOf NCIT_C120383 @default.
- NCIT_C120407 subClassOf NCIT_C120407 @default.
- NCIT_C120407 subClassOf NCIT_C3367 @default.
- NCIT_C120407 subClassOf NCIT_C36278 @default.
- NCIT_C120407 subClassOf NCIT_C36285 @default.
- NCIT_C120407 subClassOf NCIT_C7057 @default.