Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B8db2cd0d065aaf4ecf8e8084fc14e2e9> ?p ?o ?g. }
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- B8db2cd0d065aaf4ecf8e8084fc14e2e9 hasDbXref "Orphanet:79444" @default.
- B8db2cd0d065aaf4ecf8e8084fc14e2e9 type Axiom @default.
- B8db2cd0d065aaf4ecf8e8084fc14e2e9 annotatedProperty IAO_0000115 @default.
- B8db2cd0d065aaf4ecf8e8084fc14e2e9 annotatedSource MONDO_0012911 @default.
- B8db2cd0d065aaf4ecf8e8084fc14e2e9 annotatedTarget "A rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha)." @default.