Matches in Ubergraph for { <http://purl.obolibrary.org/obo/MONDO_0018339> ?p ?o ?g. }
- MONDO_0018339 BFO_0000054 NCIT_C16956 @default.
- MONDO_0018339 BFO_0000054 NCIT_C17214 @default.
- MONDO_0018339 BFO_0000054 NCIT_C17828 @default.
- MONDO_0018339 BFO_0000054 NCIT_C18264 @default.
- MONDO_0018339 COB_0000029 NCIT_C16956 @default.
- MONDO_0018339 COB_0000029 NCIT_C17214 @default.
- MONDO_0018339 COB_0000029 NCIT_C17828 @default.
- MONDO_0018339 COB_0000029 NCIT_C18264 @default.
- MONDO_0018339 IAO_0000115 "Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid." @default.
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- MONDO_0018339 RO_0002162 PCO_0000031 @default.
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- MONDO_0018339 RO_0002320 NCBITaxon_33154 @default.
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- MONDO_0018339 RO_0002320 NCBITaxon_8287 @default.