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- B102efe87610414a9c3f961cb6c4923a7 hasDbXref "Orphanet:79022" @default.
- B102efe87610414a9c3f961cb6c4923a7 type Axiom @default.
- B102efe87610414a9c3f961cb6c4923a7 annotatedProperty IAO_0000115 @default.
- B102efe87610414a9c3f961cb6c4923a7 annotatedSource MONDO_0010265 @default.
- B102efe87610414a9c3f961cb6c4923a7 annotatedTarget "Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported." @default.