Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C130998> ?p ?o ?g. }
Showing items 1 to 25 of
25
with 100 items per page.
- NCIT_C130998 IAO_0000115 "An autosomal recessive condition caused by homozygous or compound heterozygous inactivating mutation(s) in the gene LRP5, encoding low-density lipoprotein receptor-related protein 5. This condition is characterized by severe juvenile-onset osteoporosis and congenital or juvenile-onset blindness due to a vascularized retinal mass that resembles a glioma." @default.
- NCIT_C130998 NCIT_NHC0 "C130998" @default.
- NCIT_C130998 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C130998 NCIT_P108 "Osteoporosis Pseudoglioma Syndrome" @default.
- NCIT_C130998 NCIT_P207 "C0432252" @default.
- NCIT_C130998 NCIT_P322 "NICHD" @default.
- NCIT_C130998 NCIT_P325 "An autosomal recessive condition caused by homozygous or compound heterozygous inactivating mutation(s) in the gene LRP5, encoding low-density lipoprotein receptor-related protein 5. This condition is characterized by severe juvenile-onset osteoporosis and congenital or juvenile-onset blindness due to a vascularized retinal mass that resembles a glioma." @default.
- NCIT_C130998 NCIT_R176 NCIT_C16612 @default.
- NCIT_C130998 NCIT_R176 NCIT_C20103 @default.
- NCIT_C130998 NCIT_R176 NCIT_C21295 @default.
- NCIT_C130998 NCIT_R176 NCIT_C95410 @default.
- NCIT_C130998 normalizedInformationContent "100" @default.
- NCIT_C130998 referenceCount "1" @default.
- NCIT_C130998 hasExactSynonym "Osteoporosis Pseudoglioma Syndrome" @default.
- NCIT_C130998 inSubset NCIT_C118467 @default.
- NCIT_C130998 inSubset NCIT_C90259 @default.
- NCIT_C130998 type Class @default.
- NCIT_C130998 isDefinedBy ncit.owl @default.
- NCIT_C130998 label "Osteoporosis Pseudoglioma Syndrome" @default.
- NCIT_C130998 subClassOf B99b319f071616e4e44341a7ccedee0b0 @default.
- NCIT_C130998 subClassOf Ba0d06de26b82ae2517730485e891b808 @default.
- NCIT_C130998 subClassOf NCIT_C130998 @default.
- NCIT_C130998 subClassOf NCIT_C28193 @default.
- NCIT_C130998 subClassOf NCIT_C2991 @default.
- NCIT_C130998 subClassOf NCIT_C7057 @default.