Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C35008> ?p ?o ?g. }
Showing items 1 to 20 of
20
with 100 items per page.
- NCIT_C35008 IAO_0000115 "A classification for rare genetic syndromes with an autosomal recessive pattern of inheritance. Clinical features include muscle stiffness and weakness, facial and skeletal abnormalities with joint contractures and short stature. Two types have been characterized: Schwartz-Jampel Syndrome type I (SJSI) and Schwartz-Jampel Syndrome type II (SJSII). SJSI is associated with a mutation of the HSPG2 gene on chromosome 1 and has been further characterized into two subtypes IA and IB. SJSIA is more common, less severe in presentation and is seen later in childhood than SJSIB. For both SJSI subtypes, prognosis is favorable as the main feature of muscle stiffness is slowly progressive, if at all, and is compatible with a normal life span. SJSII is apparent at birth, shares the same clinical profile and mutation in the LIFR gene noted in Stuve-Wiedemann Syndrome and is thus presumed to be the same disorder. In contrast to SJSI, its presentation is more severe and likelihood of survivability is much lower." @default.
- NCIT_C35008 NCIT_NHC0 "C35008" @default.
- NCIT_C35008 NCIT_P106 "Disease or Syndrome" @default.
- NCIT_C35008 NCIT_P108 "Schwartz-Jampel Syndrome" @default.
- NCIT_C35008 NCIT_P207 "C0036391" @default.
- NCIT_C35008 NCIT_P322 "Cellosaurus" @default.
- NCIT_C35008 NCIT_P366 "Schwartz_Syndrome" @default.
- NCIT_C35008 normalizedInformationContent "90.826665450122817" @default.
- NCIT_C35008 referenceCount "4" @default.
- NCIT_C35008 hasExactSynonym "Myotonic Chondrodystrophy" @default.
- NCIT_C35008 hasExactSynonym "Schwartz-Jampel Syndrome" @default.
- NCIT_C35008 inSubset NCIT_C165258 @default.
- NCIT_C35008 inSubset NCIT_C192842 @default.
- NCIT_C35008 type Class @default.
- NCIT_C35008 isDefinedBy ncit.owl @default.
- NCIT_C35008 label "Schwartz-Jampel Syndrome" @default.
- NCIT_C35008 subClassOf NCIT_C28193 @default.
- NCIT_C35008 subClassOf NCIT_C2991 @default.
- NCIT_C35008 subClassOf NCIT_C35008 @default.
- NCIT_C35008 subClassOf NCIT_C7057 @default.