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- B08e2c671bb87c13d297acf559abf1d1d hasDbXref "Orphanet:79022" @default.
- B08e2c671bb87c13d297acf559abf1d1d type Axiom @default.
- B08e2c671bb87c13d297acf559abf1d1d annotatedProperty IAO_0000115 @default.
- B08e2c671bb87c13d297acf559abf1d1d annotatedSource MONDO_0010265 @default.
- B08e2c671bb87c13d297acf559abf1d1d 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.