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- Bf36801d27fcd6e596f34197db8b715d8 hasDbXref "Orphanet:2824" @default.
- Bf36801d27fcd6e596f34197db8b715d8 type Axiom @default.
- Bf36801d27fcd6e596f34197db8b715d8 annotatedProperty IAO_0000115 @default.
- Bf36801d27fcd6e596f34197db8b715d8 annotatedSource MONDO_0010662 @default.
- Bf36801d27fcd6e596f34197db8b715d8 annotatedTarget "A syndrome characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition." @default.