Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B11a2bbc30d4311428227e9a15fd56bd9> ?p ?o ?g. }
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- B11a2bbc30d4311428227e9a15fd56bd9 hasDbXref "PMID:8281276" @default.
- B11a2bbc30d4311428227e9a15fd56bd9 hasDbXref "https://orcid.org/0000-0001-5208-3432" @default.
- B11a2bbc30d4311428227e9a15fd56bd9 type Axiom @default.
- B11a2bbc30d4311428227e9a15fd56bd9 annotatedProperty IAO_0000115 @default.
- B11a2bbc30d4311428227e9a15fd56bd9 annotatedSource MONDO_0021838 @default.
- B11a2bbc30d4311428227e9a15fd56bd9 annotatedTarget "A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature. This is an n-of-1 use case where only one patient or family has been described with this disorder." @default.