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- B83b587c46ceedc6c07efa903512c31dc hasDbXref "Orphanet:85321" @default.
- B83b587c46ceedc6c07efa903512c31dc type Axiom @default.
- B83b587c46ceedc6c07efa903512c31dc annotatedProperty IAO_0000115 @default.
- B83b587c46ceedc6c07efa903512c31dc annotatedSource MONDO_0010353 @default.
- B83b587c46ceedc6c07efa903512c31dc 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.