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- NCIT_C159654 IAO_0000115 "An autosomal recessive condition caused by mutation(s) in the DNAJC12 gene, encoding dnaJ homolog subfamily C member 12. It is characterized by increased serum phenylalanine concentrations resulting in variable neurologic defects, including movement defects and intellectual disability. BH4 metabolism is normal." @default.
- NCIT_C159654 NCIT_NHC0 "C159654" @default.
- NCIT_C159654 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C159654 NCIT_P108 "Mild Non-BH4-Deficient Hyperphenylalaninemia" @default.
- NCIT_C159654 NCIT_P208 "CL761096" @default.
- NCIT_C159654 NCIT_P322 "Cellosaurus" @default.
- NCIT_C159654 NCIT_R176 NCIT_C16612 @default.
- NCIT_C159654 NCIT_R176 NCIT_C200857 @default.
- NCIT_C159654 NCIT_R176 NCIT_C25802 @default.
- NCIT_C159654 normalizedInformationContent "100" @default.
- NCIT_C159654 referenceCount "1" @default.
- NCIT_C159654 hasExactSynonym "HPANBH4" @default.
- NCIT_C159654 hasExactSynonym "Mild Non-BH4-Deficient Hyperphenylalaninemia" @default.
- NCIT_C159654 inSubset NCIT_C165258 @default.
- NCIT_C159654 inSubset NCIT_C192842 @default.
- NCIT_C159654 type Class @default.
- NCIT_C159654 isDefinedBy ncit.owl @default.
- NCIT_C159654 label "Mild Non-BH4-Deficient Hyperphenylalaninemia" @default.
- NCIT_C159654 subClassOf B8cab0cd81d895b6f976526a847ba82cf @default.
- NCIT_C159654 subClassOf Bf6f436dcf25dfdf1e72ac0ad0d98e7ed @default.
- NCIT_C159654 subClassOf NCIT_C159654 @default.
- NCIT_C159654 subClassOf NCIT_C2991 @default.
- NCIT_C159654 subClassOf NCIT_C3235 @default.
- NCIT_C159654 subClassOf NCIT_C34816 @default.
- NCIT_C159654 subClassOf NCIT_C53529 @default.
- NCIT_C159654 subClassOf NCIT_C53547 @default.
- NCIT_C159654 subClassOf NCIT_C7057 @default.
- NCIT_C159654 subClassOf NCIT_C81315 @default.
- NCIT_C159654 subClassOf NCIT_C97090 @default.