Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B18f2496568d4a4902b84de0f199998c9> ?p ?o ?g. }
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- B18f2496568d4a4902b84de0f199998c9 hasDbXref "DOID:0060867" @default.
- B18f2496568d4a4902b84de0f199998c9 hasDbXref "PMID:15805158" @default.
- B18f2496568d4a4902b84de0f199998c9 hasDbXref "PMID:1719811" @default.
- B18f2496568d4a4902b84de0f199998c9 type Axiom @default.
- B18f2496568d4a4902b84de0f199998c9 annotatedProperty IAO_0000115 @default.
- B18f2496568d4a4902b84de0f199998c9 annotatedSource MONDO_0011537 @default.
- B18f2496568d4a4902b84de0f199998c9 annotatedTarget "An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material basis in heterozygous mutation in the PTEN gene on chromosome 10q23." @default.