Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bc05e61abbded8098298385cccc07d819> ?p ?o ?g. }
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- Bc05e61abbded8098298385cccc07d819 hasDbXref "Orphanet:1738" @default.
- Bc05e61abbded8098298385cccc07d819 type Axiom @default.
- Bc05e61abbded8098298385cccc07d819 annotatedProperty IAO_0000115 @default.
- Bc05e61abbded8098298385cccc07d819 annotatedSource MONDO_0015767 @default.
- Bc05e61abbded8098298385cccc07d819 annotatedTarget "Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males." @default.