Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bb4b82bde349c9d962ba067930ec2e22c> ?p ?o ?g. }
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- Bb4b82bde349c9d962ba067930ec2e22c hasDbXref "Orphanet:85321" @default.
- Bb4b82bde349c9d962ba067930ec2e22c type Axiom @default.
- Bb4b82bde349c9d962ba067930ec2e22c annotatedProperty IAO_0000115 @default.
- Bb4b82bde349c9d962ba067930ec2e22c annotatedSource MONDO_0010353 @default.
- Bb4b82bde349c9d962ba067930ec2e22c annotatedTarget "A syndrome characterized by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localized to the q1-21 region of the X chromosome." @default.