Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B948ea020c0c0997b12b25671fd6932fb> ?p ?o ?g. }
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- B948ea020c0c0997b12b25671fd6932fb hasDbXref "Orphanet:369950" @default.
- B948ea020c0c0997b12b25671fd6932fb type Axiom @default.
- B948ea020c0c0997b12b25671fd6932fb annotatedProperty IAO_0000115 @default.
- B948ea020c0c0997b12b25671fd6932fb annotatedSource MONDO_0018248 @default.
- B948ea020c0c0997b12b25671fd6932fb 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.