Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B22b28fa69e985abeed992b66803516c8> ?p ?o ?g. }
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- B22b28fa69e985abeed992b66803516c8 hasDbXref "Orphanet:998" @default.
- B22b28fa69e985abeed992b66803516c8 type Axiom @default.
- B22b28fa69e985abeed992b66803516c8 annotatedProperty IAO_0000115 @default.
- B22b28fa69e985abeed992b66803516c8 annotatedSource MONDO_0010403 @default.
- B22b28fa69e985abeed992b66803516c8 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.