Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bde2279ce3e3ef6a871640c8890335732> ?p ?o ?g. }
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- Bde2279ce3e3ef6a871640c8890335732 hasDbXref "Orphanet:254519" @default.
- Bde2279ce3e3ef6a871640c8890335732 type Axiom @default.
- Bde2279ce3e3ef6a871640c8890335732 annotatedProperty IAO_0000115 @default.
- Bde2279ce3e3ef6a871640c8890335732 annotatedSource MONDO_0016779 @default.
- Bde2279ce3e3ef6a871640c8890335732 annotatedTarget "A rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma." @default.