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- NCIT_C167215 IAO_0000115 "A sub-type of autosomal recessive osteopetrosis caused by mutation(s) in the TCIRG1 gene on chromosome 11q13, encoding the osteoclast-specific (alpha 3) subunit of the vacuolar proton pump. It is characterized by macrocephaly, frontal bossing, nystagmus, optic atrophy, blindness, deafness, and facial palsy." @default.
- NCIT_C167215 NCIT_NHC0 "C167215" @default.
- NCIT_C167215 NCIT_P106 "Congenital Abnormality" @default.
- NCIT_C167215 NCIT_P108 "Autosomal Recessive Osteopetrosis 1" @default.
- NCIT_C167215 NCIT_P207 "C1850127" @default.
- NCIT_C167215 NCIT_P322 "Cellosaurus" @default.
- NCIT_C167215 NCIT_R100 NCIT_C12219 @default.
- NCIT_C167215 NCIT_R100 NCIT_C12366 @default.
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- NCIT_C167215 NCIT_R100 NCIT_C12801 @default.
- NCIT_C167215 NCIT_R100 NCIT_C12919 @default.
- NCIT_C167215 NCIT_R100 NCIT_C12964 @default.
- NCIT_C167215 NCIT_R100 NCIT_C25769 @default.
- NCIT_C167215 NCIT_R100 NCIT_C32221 @default.
- NCIT_C167215 NCIT_R100 NCIT_C34076 @default.
- NCIT_C167215 NCIT_R101 NCIT_C12219 @default.
- NCIT_C167215 NCIT_R101 NCIT_C12366 @default.
- NCIT_C167215 NCIT_R101 NCIT_C25769 @default.
- NCIT_C167215 NCIT_R101 NCIT_C32221 @default.
- NCIT_C167215 NCIT_R101 NCIT_C34076 @default.
- NCIT_C167215 NCIT_R103 NCIT_C12219 @default.
- NCIT_C167215 NCIT_R103 NCIT_C12801 @default.
- NCIT_C167215 NCIT_R103 NCIT_C12964 @default.
- NCIT_C167215 NCIT_R176 NCIT_C16612 @default.
- NCIT_C167215 NCIT_R176 NCIT_C185448 @default.
- NCIT_C167215 NCIT_R176 NCIT_C21295 @default.
- NCIT_C167215 NCIT_R176 NCIT_C25869 @default.
- NCIT_C167215 NCIT_R176 NCIT_C25993 @default.
- NCIT_C167215 NCIT_R176 NCIT_C26039 @default.
- NCIT_C167215 NCIT_R176 NCIT_C28533 @default.
- NCIT_C167215 normalizedInformationContent "100" @default.
- NCIT_C167215 referenceCount "1" @default.
- NCIT_C167215 hasExactSynonym "ARO1" @default.
- NCIT_C167215 hasExactSynonym "Autosomal Recessive Albers-Schonberg Disease" @default.
- NCIT_C167215 hasExactSynonym "Autosomal Recessive Marble Bones" @default.
- NCIT_C167215 hasExactSynonym "Autosomal Recessive Osteopetrosis 1" @default.
- NCIT_C167215 hasExactSynonym "Autosomal Recessive Osteopetrosis Type 1" @default.
- NCIT_C167215 hasExactSynonym "Infantile Malignant Osteopetrosis 1" @default.
- NCIT_C167215 hasExactSynonym "OPTB1" @default.
- NCIT_C167215 inSubset NCIT_C165258 @default.
- NCIT_C167215 inSubset NCIT_C192842 @default.
- NCIT_C167215 type Class @default.
- NCIT_C167215 isDefinedBy ncit.owl @default.
- NCIT_C167215 label "Autosomal Recessive Osteopetrosis 1" @default.
- NCIT_C167215 subClassOf B5107a5601e2786b72aedd2b6505e770b @default.
- NCIT_C167215 subClassOf Bcecdabd4fcea3e92d8b5b78c35726697 @default.
- NCIT_C167215 subClassOf NCIT_C107377 @default.
- NCIT_C167215 subClassOf NCIT_C129733 @default.
- NCIT_C167215 subClassOf NCIT_C166355 @default.
- NCIT_C167215 subClassOf NCIT_C167215 @default.
- NCIT_C167215 subClassOf NCIT_C26326 @default.
- NCIT_C167215 subClassOf NCIT_C26729 @default.
- NCIT_C167215 subClassOf NCIT_C26840 @default.
- NCIT_C167215 subClassOf NCIT_C27551 @default.
- NCIT_C167215 subClassOf NCIT_C27572 @default.
- NCIT_C167215 subClassOf NCIT_C27574 @default.
- NCIT_C167215 subClassOf NCIT_C2991 @default.
- NCIT_C167215 subClassOf NCIT_C53529 @default.
- NCIT_C167215 subClassOf NCIT_C53531 @default.
- NCIT_C167215 subClassOf NCIT_C7057 @default.