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- B90d305e4c4ac7ed65e8da500bac694cf hasDbXref "Orphanet:420561" @default.
- B90d305e4c4ac7ed65e8da500bac694cf hasDbXref "https://orcid.org/0000-0001-5208-3432" @default.
- B90d305e4c4ac7ed65e8da500bac694cf type Axiom @default.
- B90d305e4c4ac7ed65e8da500bac694cf annotatedProperty IAO_0000115 @default.
- B90d305e4c4ac7ed65e8da500bac694cf annotatedSource MONDO_0012735 @default.
- B90d305e4c4ac7ed65e8da500bac694cf annotatedTarget "A rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients." @default.