Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bdec3905cc8f680c51c1bc95555f83f53> ?p ?o ?g. }
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- Bdec3905cc8f680c51c1bc95555f83f53 hasDbXref "Orphanet:904" @default.
- Bdec3905cc8f680c51c1bc95555f83f53 hasDbXref "https://orcid.org/0000-0001-5208-3432" @default.
- Bdec3905cc8f680c51c1bc95555f83f53 type Axiom @default.
- Bdec3905cc8f680c51c1bc95555f83f53 annotatedProperty IAO_0000115 @default.
- Bdec3905cc8f680c51c1bc95555f83f53 annotatedSource MONDO_0008678 @default.
- Bdec3905cc8f680c51c1bc95555f83f53 annotatedTarget "A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)" @default.