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- Bf235f0343ee02b7d1ef6ea0ae2eadde0 hasDbXref "Orphanet:638" @default.
- Bf235f0343ee02b7d1ef6ea0ae2eadde0 type Axiom @default.
- Bf235f0343ee02b7d1ef6ea0ae2eadde0 annotatedProperty IAO_0000115 @default.
- Bf235f0343ee02b7d1ef6ea0ae2eadde0 annotatedSource MONDO_0011035 @default.
- Bf235f0343ee02b7d1ef6ea0ae2eadde0 annotatedTarget "A RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS)." @default.