| dbo:abstract |
Das Albinismus-Taubheit-Syndrom ist eine sehr seltene angeborene Erkrankung mit einer Kombination von angeborener Schwerhörigkeit und partiellem Albinismus ohne Augenveränderungen. Synonyme sind Dolowitz-Aldous-Syndrom; Ziprkowski-Margolis-Syndrom; ADFN Die Bezeichnungen beziehen sich auf Veröffentlichungen von E. Margolis und L. Ziprkowski und Mitarbeiter aus dem Jahre 1962 sowie von C. M. Woolf, D. A. Dolowitz und H.E. Aldous aus dem Jahre 1965. (de) Albinism–deafness syndrome is a condition characterized by congenital neural deafness and a severe or extreme piebald-like phenotype with extensive areas of hypopigmentation. A locus at Xq26.3-q27.I has been suggested. It has been suggested that it is a form of Waardenburg syndrome type II. (en) La sindrome di Ziprkowski-Margolis o sindrome di Woolf è una sindrome a trasmissione X-linked caratterizzata da albinismo e sordità congenita. (it) |
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| dbp:caption |
Albinism–deafness syndrome is inherited in an X-linked recessive manner (en) |
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Albinism–deafness syndrome (en) |
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| dbp:synonyms |
Woolf syndrome and Ziprkowski–Margolis syndrome (en) |
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dbr:Condition |
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| rdfs:comment |
Das Albinismus-Taubheit-Syndrom ist eine sehr seltene angeborene Erkrankung mit einer Kombination von angeborener Schwerhörigkeit und partiellem Albinismus ohne Augenveränderungen. Synonyme sind Dolowitz-Aldous-Syndrom; Ziprkowski-Margolis-Syndrom; ADFN Die Bezeichnungen beziehen sich auf Veröffentlichungen von E. Margolis und L. Ziprkowski und Mitarbeiter aus dem Jahre 1962 sowie von C. M. Woolf, D. A. Dolowitz und H.E. Aldous aus dem Jahre 1965. (de) Albinism–deafness syndrome is a condition characterized by congenital neural deafness and a severe or extreme piebald-like phenotype with extensive areas of hypopigmentation. A locus at Xq26.3-q27.I has been suggested. It has been suggested that it is a form of Waardenburg syndrome type II. (en) La sindrome di Ziprkowski-Margolis o sindrome di Woolf è una sindrome a trasmissione X-linked caratterizzata da albinismo e sordità congenita. (it) |
| rdfs:label |
Albinism–deafness syndrome (en) Albinismus-Taubheit-Syndrom (de) Sindrome di Ziprkowski-Margolis (it) |
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freebase:Albinism–deafness syndrome wikidata:Albinism–deafness syndrome dbpedia-de:Albinism–deafness syndrome dbpedia-it:Albinism–deafness syndrome https://global.dbpedia.org/id/4N5WU |
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Albinism–deafness syndrome (en) |
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