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- NCIT_C98983 IAO_0000115 "An autosomal dominant inherited syndrome caused by mutations in the EYA1, SIX1, and SIX5 genes. It is characterized by the abnormal development of the second branchial arch, resulting in the formation of branchial cleft cysts and fistulae, hearing loss and ear malformations, and renal abnormalities." @default.
- NCIT_C98983 NCIT_NHC0 "C98983" @default.
- NCIT_C98983 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C98983 NCIT_P108 "Melnick-Fraser Syndrome" @default.
- NCIT_C98983 NCIT_P207 "C0265234" @default.
- NCIT_C98983 NCIT_P322 "Cellosaurus" @default.
- NCIT_C98983 NCIT_P322 "NICHD" @default.
- NCIT_C98983 NCIT_P325 "A hereditary disorder caused by mutations in the EYA1 gene, which is characterized by hearing loss, structural defects of the ear, branchial fistulas or cysts, and early, progressive chronic renal failure." @default.
- NCIT_C98983 normalizedInformationContent "100" @default.
- NCIT_C98983 referenceCount "1" @default.
- NCIT_C98983 hasExactSynonym "Branchio-oto-renal Syndrome" @default.
- NCIT_C98983 hasExactSynonym "Melnick-Fraser Syndrome" @default.
- NCIT_C98983 inSubset NCIT_C123272 @default.
- NCIT_C98983 inSubset NCIT_C165258 @default.
- NCIT_C98983 inSubset NCIT_C192842 @default.
- NCIT_C98983 inSubset NCIT_C90259 @default.
- NCIT_C98983 inSubset NCIT_C99147 @default.
- NCIT_C98983 type Class @default.
- NCIT_C98983 isDefinedBy ncit.owl @default.
- NCIT_C98983 label "Melnick-Fraser Syndrome" @default.
- NCIT_C98983 subClassOf B0ce06eb4db31cbf2e815b9157099ac1b @default.
- NCIT_C98983 subClassOf Bbf9a275a720236975d5189e4674994ed @default.
- NCIT_C98983 subClassOf NCIT_C28193 @default.
- NCIT_C98983 subClassOf NCIT_C2991 @default.
- NCIT_C98983 subClassOf NCIT_C7057 @default.
- NCIT_C98983 subClassOf NCIT_C98983 @default.