Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B3c4e9a356246d85d2e8a9ef1706036eb> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- B3c4e9a356246d85d2e8a9ef1706036eb hasDbXref "Orphanet:96150" @default.
- B3c4e9a356246d85d2e8a9ef1706036eb type Axiom @default.
- B3c4e9a356246d85d2e8a9ef1706036eb annotatedProperty IAO_0000115 @default.
- B3c4e9a356246d85d2e8a9ef1706036eb annotatedSource MONDO_0019898 @default.
- B3c4e9a356246d85d2e8a9ef1706036eb annotatedTarget "Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported." @default.