Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Be2695d1c1feb68264dbb8aa028013764> ?p ?o ?g. }
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- Be2695d1c1feb68264dbb8aa028013764 hasDbXref "Orphanet:998" @default.
- Be2695d1c1feb68264dbb8aa028013764 type Axiom @default.
- Be2695d1c1feb68264dbb8aa028013764 annotatedProperty IAO_0000115 @default.
- Be2695d1c1feb68264dbb8aa028013764 annotatedSource MONDO_0010403 @default.
- Be2695d1c1feb68264dbb8aa028013764 annotatedTarget "A syndromic genetic hearing loss is characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1." @default.