Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Ba934414a43ef525e5a6b350781b737a7> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- Ba934414a43ef525e5a6b350781b737a7 hasDbXref "Orphanet:1717" @default.
- Ba934414a43ef525e5a6b350781b737a7 type Axiom @default.
- Ba934414a43ef525e5a6b350781b737a7 annotatedProperty IAO_0000115 @default.
- Ba934414a43ef525e5a6b350781b737a7 annotatedSource MONDO_0015744 @default.
- Ba934414a43ef525e5a6b350781b737a7 annotatedTarget "Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations." @default.