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- NCIT_C118632 IAO_0000115 "An autosomal recessive inherited syndrome caused by mutations in at least fourteen different genes, called BBS genes. It is characterized by loss of vision, obesity, diabetes, hypertension, hypercholesterolemia, polydactyly, intellectual disability, genital organs abnormalities, and delayed development of motor skills." @default.
- NCIT_C118632 NCIT_NHC0 "C118632" @default.
- NCIT_C118632 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C118632 NCIT_P108 "Bardet-Biedl Syndrome" @default.
- NCIT_C118632 NCIT_P207 "C0752166" @default.
- NCIT_C118632 NCIT_P322 "Cellosaurus" @default.
- NCIT_C118632 NCIT_P322 "NICHD" @default.
- NCIT_C118632 NCIT_P325 "A collection of autosomal recessive syndromes with similar phenotypes associated with mutations in at least one BBS gene. Clinical characteristics of this genetically heterogenous syndrome may include, but are not limited to, obesity, diabetes, hand anomalies, retinal dystrophy, genital anomalies, developmental delay, hypertension, and hypercholesterolemia." @default.
- NCIT_C118632 normalizedInformationContent "100" @default.
- NCIT_C118632 referenceCount "1" @default.
- NCIT_C118632 hasExactSynonym "BBS" @default.
- NCIT_C118632 hasExactSynonym "Bardet-Biedl Syndrome" @default.
- NCIT_C118632 hasExactSynonym "Laurence-Moon Syndrome" @default.
- NCIT_C118632 hasExactSynonym "Laurence-Moon-Bardet-Biedl Syndrome" @default.
- NCIT_C118632 hasExactSynonym "Laurence-Moon-Biedl Syndrome" @default.
- NCIT_C118632 inSubset NCIT_C118467 @default.
- NCIT_C118632 inSubset NCIT_C123272 @default.
- NCIT_C118632 inSubset NCIT_C165258 @default.
- NCIT_C118632 inSubset NCIT_C192842 @default.
- NCIT_C118632 inSubset NCIT_C90259 @default.
- NCIT_C118632 type Class @default.
- NCIT_C118632 isDefinedBy ncit.owl @default.
- NCIT_C118632 label "Bardet-Biedl Syndrome" @default.
- NCIT_C118632 subClassOf NCIT_C118632 @default.
- NCIT_C118632 subClassOf NCIT_C28193 @default.
- NCIT_C118632 subClassOf NCIT_C2991 @default.
- NCIT_C118632 subClassOf NCIT_C7057 @default.