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- B0258f8af7fe3ca27434a0efb3c109660 hasDbXref "Orphanet:531151" @default.
- B0258f8af7fe3ca27434a0efb3c109660 type Axiom @default.
- B0258f8af7fe3ca27434a0efb3c109660 annotatedProperty IAO_0000115 @default.
- B0258f8af7fe3ca27434a0efb3c109660 annotatedSource MONDO_0035173 @default.
- B0258f8af7fe3ca27434a0efb3c109660 annotatedTarget "A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus." @default.