Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B637a7a53ebef1295866a221ce5044e72> ?p ?o ?g. }
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- B637a7a53ebef1295866a221ce5044e72 hasDbXref "Orphanet:96176" @default.
- B637a7a53ebef1295866a221ce5044e72 type Axiom @default.
- B637a7a53ebef1295866a221ce5044e72 annotatedProperty IAO_0000115 @default.
- B637a7a53ebef1295866a221ce5044e72 annotatedSource MONDO_0019907 @default.
- B637a7a53ebef1295866a221ce5044e72 annotatedTarget "Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia." @default.