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Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C4705> ?p ?o ?g. }

• NCIT_C4705 IAO_0000115 "An autosomal dominant disorder most often caused by mutations in the PRKAR1A gene. It is characterized by the presence of myxomas in the heart and skin, skin hyperpigmentation, increased endocrine activity and melanotic schwannomas." @default.
• NCIT_C4705 NCIT_A13 NCIT_C97742 @default.
• NCIT_C4705 NCIT_NHC0 "C4705" @default.
• NCIT_C4705 NCIT_P106 "Disease or Syndrome" @default.
• NCIT_C4705 NCIT_P107 "Carney Complex" @default.
• NCIT_C4705 NCIT_P108 "Carney Complex" @default.
• NCIT_C4705 NCIT_P207 "C0406810" @default.
• NCIT_C4705 NCIT_P322 "CCPS" @default.
• NCIT_C4705 NCIT_P322 "CTRP" @default.
• NCIT_C4705 NCIT_P322 "Cellosaurus" @default.
• NCIT_C4705 NCIT_P322 "NICHD" @default.
• NCIT_C4705 NCIT_P325 "A rare, inherited disorder marked by dark spots on the skin and tumors in the heart, endocrine glands, skin, and nerves. There are two types of Carney complex, which are caused by mutations (changes) in different genes." @default.
• NCIT_C4705 NCIT_P325 "An autosomal dominant syndrome most often caused by heterozygous inactivating mutations in a potential tumor suppressor gene, PRKAR1A, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. This condition is characterized by increased risk of myxomas in the heart, psammomatous melanotic schwannomas and letigines, and tumors in many endocrine organs. A distinctive feature of this condition is primary pigmented nodular adrenocortical disease (PPNAD), which results in hyperadrenocortisolism. Pituitary gland involvement includes functional pituitary adenomas that result in excess growth hormone production." @default.
• NCIT_C4705 NCIT_P366 "Carney_Complex" @default.
• NCIT_C4705 NCIT_R108 NCIT_C3367 @default.
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