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- NCIT_C175209 IAO_0000115 "An autosomal dominant condition caused by mutation(s) in the TRPV4 gene, encoding transient receptor potential cation channel subfamily V member 4. It is characterized by a variable phenotype, which may include short limbs, kyphoscoliosis, and other skeletal abnormalities." @default.
- NCIT_C175209 NCIT_NHC0 "C175209" @default.
- NCIT_C175209 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C175209 NCIT_P108 "Metatropic Dysplasia" @default.
- NCIT_C175209 NCIT_P207 "C0265281" @default.
- NCIT_C175209 NCIT_P322 "Cellosaurus" @default.
- NCIT_C175209 NCIT_R176 NCIT_C138111 @default.
- NCIT_C175209 NCIT_R176 NCIT_C16612 @default.
- NCIT_C175209 NCIT_R176 NCIT_C21295 @default.
- NCIT_C175209 NCIT_R176 NCIT_C25869 @default.
- NCIT_C175209 NCIT_R176 NCIT_C25993 @default.
- NCIT_C175209 NCIT_R176 NCIT_C26039 @default.
- NCIT_C175209 NCIT_R176 NCIT_C28533 @default.
- NCIT_C175209 normalizedInformationContent "100" @default.
- NCIT_C175209 referenceCount "1" @default.
- NCIT_C175209 hasExactSynonym "Metatropic Dysplasia" @default.
- NCIT_C175209 inSubset NCIT_C165258 @default.
- NCIT_C175209 inSubset NCIT_C192842 @default.
- NCIT_C175209 type Class @default.
- NCIT_C175209 isDefinedBy ncit.owl @default.
- NCIT_C175209 label "Metatropic Dysplasia" @default.
- NCIT_C175209 subClassOf B4f0ab2b0ce08b3c25c60b9e15e19bc10 @default.
- NCIT_C175209 subClassOf Bcca7389da41b37e8b1677a1794100341 @default.
- NCIT_C175209 subClassOf NCIT_C175209 @default.
- NCIT_C175209 subClassOf NCIT_C2991 @default.
- NCIT_C175209 subClassOf NCIT_C4873 @default.
- NCIT_C175209 subClassOf NCIT_C53529 @default.
- NCIT_C175209 subClassOf NCIT_C53543 @default.
- NCIT_C175209 subClassOf NCIT_C53547 @default.
- NCIT_C175209 subClassOf NCIT_C7057 @default.