Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B2e1d9d06a97606eb52a5c5d94a8053e9> ?p ?o ?g. }
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- B2e1d9d06a97606eb52a5c5d94a8053e9 hasDbXref "Orphanet:531151" @default.
- B2e1d9d06a97606eb52a5c5d94a8053e9 type Axiom @default.
- B2e1d9d06a97606eb52a5c5d94a8053e9 annotatedProperty IAO_0000115 @default.
- B2e1d9d06a97606eb52a5c5d94a8053e9 annotatedSource MONDO_0035173 @default.
- B2e1d9d06a97606eb52a5c5d94a8053e9 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.