Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Ba5c3ce5238bdfafeb86254dd10e792bf> ?p ?o ?g. }
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- Ba5c3ce5238bdfafeb86254dd10e792bf hasDbXref "Orphanet:1636" @default.
- Ba5c3ce5238bdfafeb86254dd10e792bf type Axiom @default.
- Ba5c3ce5238bdfafeb86254dd10e792bf annotatedProperty IAO_0000115 @default.
- Ba5c3ce5238bdfafeb86254dd10e792bf annotatedSource MONDO_0015580 @default.
- Ba5c3ce5238bdfafeb86254dd10e792bf annotatedTarget "Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported." @default.