Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B2acf531fd7ed0a64cba11a062666d4fd> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- B2acf531fd7ed0a64cba11a062666d4fd hasDbXref "Orphanet:369950" @default.
- B2acf531fd7ed0a64cba11a062666d4fd type Axiom @default.
- B2acf531fd7ed0a64cba11a062666d4fd annotatedProperty IAO_0000115 @default.
- B2acf531fd7ed0a64cba11a062666d4fd annotatedSource MONDO_0018248 @default.
- B2acf531fd7ed0a64cba11a062666d4fd annotatedTarget "Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality." @default.