Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B2dce67d9b93594cbcdd1c15237e467e0> ?p ?o ?g. }
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- B2dce67d9b93594cbcdd1c15237e467e0 hasDbXref "Orphanet:261112" @default.
- B2dce67d9b93594cbcdd1c15237e467e0 type Axiom @default.
- B2dce67d9b93594cbcdd1c15237e467e0 annotatedProperty IAO_0000115 @default.
- B2dce67d9b93594cbcdd1c15237e467e0 annotatedSource MONDO_0008013 @default.
- B2dce67d9b93594cbcdd1c15237e467e0 annotatedTarget "Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis." @default.