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- B7c6680a74e8e7d84e7cbb48ed9e4b2d4 hasDbXref "https://rarediseases.info.nih.gov/diseases/331/yunis-varon-syndrome" @default.
- B7c6680a74e8e7d84e7cbb48ed9e4b2d4 type Axiom @default.
- B7c6680a74e8e7d84e7cbb48ed9e4b2d4 annotatedProperty IAO_0000115 @default.
- B7c6680a74e8e7d84e7cbb48ed9e4b2d4 annotatedSource MONDO_0008995 @default.
- B7c6680a74e8e7d84e7cbb48ed9e4b2d4 annotatedTarget "Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person." @default.