Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B591d88104c17c60ce462257cc3f8e1f7> ?p ?o ?g. }
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- B591d88104c17c60ce462257cc3f8e1f7 hasDbXref "Orphanet:99329" @default.
- B591d88104c17c60ce462257cc3f8e1f7 type Axiom @default.
- B591d88104c17c60ce462257cc3f8e1f7 annotatedProperty IAO_0000115 @default.
- B591d88104c17c60ce462257cc3f8e1f7 annotatedSource MONDO_0020469 @default.
- B591d88104c17c60ce462257cc3f8e1f7 annotatedTarget "48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males." @default.