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- NCIT_C84992 IAO_0000115 "A rare autosomal recessive inherited disorder caused by mutations in the cathepsin C gene. It is manifested with periodontitis resulting in the premature loss of teeth and palmoplantar keratoderma." @default.
- NCIT_C84992 NCIT_NHC0 "C84992" @default.
- NCIT_C84992 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C84992 NCIT_P108 "Papillon-Lefevre Syndrome" @default.
- NCIT_C84992 NCIT_P207 "C0030360" @default.
- NCIT_C84992 NCIT_R176 NCIT_C16612 @default.
- NCIT_C84992 NCIT_R176 NCIT_C200301 @default.
- NCIT_C84992 NCIT_R176 NCIT_C21281 @default.
- NCIT_C84992 NCIT_R176 NCIT_C25804 @default.
- NCIT_C84992 NCIT_R176 NCIT_C26003 @default.
- NCIT_C84992 normalizedInformationContent "100" @default.
- NCIT_C84992 referenceCount "1" @default.
- NCIT_C84992 hasExactSynonym "Papillon-Lefevre Disease" @default.
- NCIT_C84992 hasExactSynonym "Papillon-Lefevre Syndrome" @default.
- NCIT_C84992 type Class @default.
- NCIT_C84992 isDefinedBy ncit.owl @default.
- NCIT_C84992 label "Papillon-Lefevre Syndrome" @default.
- NCIT_C84992 subClassOf B4805a89ee475d47f72a9fb1c3f690cba @default.
- NCIT_C84992 subClassOf Bf5156759a4d054b0e648501c82f2b551 @default.
- NCIT_C84992 subClassOf NCIT_C28193 @default.
- NCIT_C84992 subClassOf NCIT_C2991 @default.
- NCIT_C84992 subClassOf NCIT_C4873 @default.
- NCIT_C84992 subClassOf NCIT_C53529 @default.
- NCIT_C84992 subClassOf NCIT_C53543 @default.
- NCIT_C84992 subClassOf NCIT_C53547 @default.
- NCIT_C84992 subClassOf NCIT_C7057 @default.
- NCIT_C84992 subClassOf NCIT_C84992 @default.