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- NCIT_C84941 IAO_0000115 "An autosomal recessive inherited disorder caused by mutations of the OCA2, SLC45A2, TYR and TYRP1 genes. It is characterized by hypopigmentation of the skin, hair, and eyes, resulting in very fair skin, white colored hair, and reduced pigmentation in the iris and retina. Individuals may have vision disturbances and photophobia." @default.
- NCIT_C84941 NCIT_A13 NCIT_C124234 @default.
- NCIT_C84941 NCIT_A13 NCIT_C131349 @default.
- NCIT_C84941 NCIT_A13 NCIT_C177112 @default.
- NCIT_C84941 NCIT_A13 NCIT_C177178 @default.
- NCIT_C84941 NCIT_A13 NCIT_C21236 @default.
- NCIT_C84941 NCIT_A13 NCIT_C39670 @default.
- NCIT_C84941 NCIT_NHC0 "C84941" @default.
- NCIT_C84941 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C84941 NCIT_P108 "Oculocutaneous Albinism" @default.
- NCIT_C84941 NCIT_P207 "C0078918" @default.
- NCIT_C84941 NCIT_P322 "CCPS" @default.
- NCIT_C84941 normalizedInformationContent "95.413332725061409" @default.
- NCIT_C84941 referenceCount "2" @default.
- NCIT_C84941 hasExactSynonym "Oculocutaneous Albinism" @default.
- NCIT_C84941 inSubset NCIT_C177281 @default.
- NCIT_C84941 inSubset NCIT_C177516 @default.
- NCIT_C84941 type Class @default.
- NCIT_C84941 isDefinedBy ncit.owl @default.
- NCIT_C84941 label "Oculocutaneous Albinism" @default.
- NCIT_C84941 subClassOf NCIT_C2991 @default.
- NCIT_C84941 subClassOf NCIT_C4873 @default.
- NCIT_C84941 subClassOf NCIT_C53529 @default.
- NCIT_C84941 subClassOf NCIT_C53543 @default.
- NCIT_C84941 subClassOf NCIT_C53547 @default.
- NCIT_C84941 subClassOf NCIT_C7057 @default.
- NCIT_C84941 subClassOf NCIT_C84543 @default.
- NCIT_C84941 subClassOf NCIT_C84941 @default.