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- Bf820a4e406ac1d90a52be6ffb601c65a hasDbXref "Orphanet:1597" @default.
- Bf820a4e406ac1d90a52be6ffb601c65a type Axiom @default.
- Bf820a4e406ac1d90a52be6ffb601c65a annotatedProperty IAO_0000115 @default.
- Bf820a4e406ac1d90a52be6ffb601c65a annotatedSource MONDO_0015562 @default.
- Bf820a4e406ac1d90a52be6ffb601c65a annotatedTarget "Distal monosomy 17q is a very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2)." @default.