Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C74985> ?p ?o ?g. }
Showing items 1 to 29 of
29
with 100 items per page.
- NCIT_C74985 IAO_0000115 "A rare autosomal dominant syndrome caused by mutations in the COL11A1 gene. It is characterized by an abnormal ocular vitreous architecture (beaded vitreous phenotype). Other signs and symptoms include retinal detachment, joint hypermobility, hearing loss, and midline clefting." @default.
- NCIT_C74985 NCIT_NHC0 "C74985" @default.
- NCIT_C74985 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C74985 NCIT_P108 "Stickler Syndrome Type 2" @default.
- NCIT_C74985 NCIT_P207 "C1858084" @default.
- NCIT_C74985 NCIT_P366 "Stickler_Syndrome_Type_2" @default.
- NCIT_C74985 NCIT_R176 NCIT_C16612 @default.
- NCIT_C74985 NCIT_R176 NCIT_C20744 @default.
- NCIT_C74985 NCIT_R176 NCIT_C26000 @default.
- NCIT_C74985 NCIT_R176 NCIT_C26001 @default.
- NCIT_C74985 NCIT_R176 NCIT_C75313 @default.
- NCIT_C74985 normalizedInformationContent "100" @default.
- NCIT_C74985 referenceCount "1" @default.
- NCIT_C74985 hasExactSynonym "Stickler Syndrome Type 2" @default.
- NCIT_C74985 hasExactSynonym "Stickler Syndrome Type II" @default.
- NCIT_C74985 type Class @default.
- NCIT_C74985 isDefinedBy ncit.owl @default.
- NCIT_C74985 label "Stickler Syndrome Type 2" @default.
- NCIT_C74985 subClassOf B443d4c2451d0247695b286d7ca9f4e0c @default.
- NCIT_C74985 subClassOf Ba23a8041ce705cbd0217a570b34b6add @default.
- NCIT_C74985 subClassOf NCIT_C28193 @default.
- NCIT_C74985 subClassOf NCIT_C2991 @default.
- NCIT_C74985 subClassOf NCIT_C4873 @default.
- NCIT_C74985 subClassOf NCIT_C53529 @default.
- NCIT_C74985 subClassOf NCIT_C53543 @default.
- NCIT_C74985 subClassOf NCIT_C53547 @default.
- NCIT_C74985 subClassOf NCIT_C7057 @default.
- NCIT_C74985 subClassOf NCIT_C74984 @default.
- NCIT_C74985 subClassOf NCIT_C74985 @default.