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- NCIT_C75120 IAO_0000115 "A rare autosomal dominant syndrome caused by mutations in the LMX1B gene. It is characterized by fingernail deformities, absence or hypoplasia of the patellae, iliac horns, deformities of the radial heads, nephropathy, and glaucoma." @default.
- NCIT_C75120 NCIT_NHC0 "C75120" @default.
- NCIT_C75120 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C75120 NCIT_P108 "Nail-Patella Syndrome" @default.
- NCIT_C75120 NCIT_P207 "C0027341" @default.
- NCIT_C75120 NCIT_P322 "NICHD" @default.
- NCIT_C75120 NCIT_P325 "A rare autosomal dominant syndrome caused by mutations in the LMX1B gene, which is characterized by dysplastic nails, absence or hypoplasia of the patellae, iliac horns, deformities of the radial heads, and nephropathy." @default.
- NCIT_C75120 NCIT_P366 "Nail_Patella_Syndrome" @default.
- NCIT_C75120 NCIT_R176 NCIT_C16612 @default.
- NCIT_C75120 NCIT_R176 NCIT_C16615 @default.
- NCIT_C75120 NCIT_R176 NCIT_C20420 @default.
- NCIT_C75120 NCIT_R176 NCIT_C54362 @default.
- NCIT_C75120 NCIT_R176 NCIT_C75630 @default.
- NCIT_C75120 normalizedInformationContent "100" @default.
- NCIT_C75120 referenceCount "1" @default.
- NCIT_C75120 hasExactSynonym "Hereditary Osteo-Onychodysplasia" @default.
- NCIT_C75120 hasExactSynonym "Nail-Patella Syndrome" @default.
- NCIT_C75120 inSubset NCIT_C123272 @default.
- NCIT_C75120 inSubset NCIT_C90259 @default.
- NCIT_C75120 type Class @default.
- NCIT_C75120 isDefinedBy ncit.owl @default.
- NCIT_C75120 label "Nail-Patella Syndrome" @default.
- NCIT_C75120 subClassOf Ba9a566faf428d5a320ef76880afa137b @default.
- NCIT_C75120 subClassOf Bb1ab1d626b1078a1c0d9d6425938bd8b @default.
- NCIT_C75120 subClassOf NCIT_C28193 @default.
- NCIT_C75120 subClassOf NCIT_C2991 @default.
- NCIT_C75120 subClassOf NCIT_C4873 @default.
- NCIT_C75120 subClassOf NCIT_C53529 @default.
- NCIT_C75120 subClassOf NCIT_C53543 @default.
- NCIT_C75120 subClassOf NCIT_C53547 @default.
- NCIT_C75120 subClassOf NCIT_C7057 @default.
- NCIT_C75120 subClassOf NCIT_C75120 @default.