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- NCIT_C123417 IAO_0000115 "A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk." @default.
- NCIT_C123417 NCIT_NHC0 "C123417" @default.
- NCIT_C123417 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C123417 NCIT_P108 "Mandibuloacral Dysplasia with Type A Lipodystrophy" @default.
- NCIT_C123417 NCIT_P207 "C0432291" @default.
- NCIT_C123417 NCIT_P322 "Cellosaurus" @default.
- NCIT_C123417 NCIT_R176 NCIT_C16612 @default.
- NCIT_C123417 NCIT_R176 NCIT_C20744 @default.
- NCIT_C123417 NCIT_R176 NCIT_C20745 @default.
- NCIT_C123417 NCIT_R176 NCIT_C30073 @default.
- NCIT_C123417 NCIT_R176 NCIT_C61148 @default.
- NCIT_C123417 normalizedInformationContent "100" @default.
- NCIT_C123417 referenceCount "1" @default.
- NCIT_C123417 hasExactSynonym "MADA" @default.
- NCIT_C123417 hasExactSynonym "Mandibuloacral Dysplasia with Type A Lipodystrophy" @default.
- NCIT_C123417 inSubset NCIT_C165258 @default.
- NCIT_C123417 inSubset NCIT_C192842 @default.
- NCIT_C123417 type Class @default.
- NCIT_C123417 isDefinedBy ncit.owl @default.
- NCIT_C123417 label "Mandibuloacral Dysplasia with Type A Lipodystrophy" @default.
- NCIT_C123417 subClassOf Bc4bd95f0878dd27e53b97e5fd6e2a9cf @default.
- NCIT_C123417 subClassOf Bf8669499cf7a1a87180d96792ab3e29b @default.
- NCIT_C123417 subClassOf NCIT_C123417 @default.
- NCIT_C123417 subClassOf NCIT_C2991 @default.
- NCIT_C123417 subClassOf NCIT_C4873 @default.
- NCIT_C123417 subClassOf NCIT_C53529 @default.
- NCIT_C123417 subClassOf NCIT_C53543 @default.
- NCIT_C123417 subClassOf NCIT_C53547 @default.
- NCIT_C123417 subClassOf NCIT_C7057 @default.