About: Albinism–deafness syndrome

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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.

Attributes	Values
rdf:type	Thing Disease yago:Abstraction100002137 yago:Act100030358 yago:Activity100407535 yago:Attribute100024264 yago:Condition113920835 yago:Disease114070360 yago:Event100029378 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:Perturbation107428450 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 yago:YagoPermanentlyLocatedEntity disease yago:State100024720 yago:WikicatDisturbancesOfHumanPigmentation
rdfs:label	Albinism–deafness syndrome (en) Albinismus-Taubheit-Syndrom (de) Sindrome di Ziprkowski-Margolis (it)
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)
foaf:name	Albinism–deafness syndrome (en)
name	Albinism–deafness syndrome (en)
foaf:depiction
dcterms:subject	Rare genetic syndromes Disturbances of human pigmentation Syndromes affecting the skin Albinism Syndromes with sensorineural hearing loss
Wikipage page ID	23804417 (xsd:integer)
Wikipage revision ID	1110702916 (xsd:integer)
Link from a Wikipage to another Wikipage	Nervous system Rare genetic syndromes Piebald Hypopigmentation Disturbances of human pigmentation Syndromes affecting the skin Albinism Albinism Syndromes with sensorineural hearing loss Waardenburg syndrome Congenital abnormality Hearing impairment
sameAs	Albinism–deafness syndrome Albinism–deafness syndrome Albinism–deafness syndrome Albinism–deafness syndrome Albinism–deafness syndrome
dbp:wikiPageUsesTemplate	dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:Cutaneous-condition-stub dbt:Pigmentation_disorders
thumbnail	wiki-commons:Special:FilePath/X-linked_recessive.svg?width=300
ICD	H90.5 (en)
MeshID	537042.0 (nicaraguanCórdoba)
OMIM	300700 (xsd:integer)
Orphanet	998 (xsd:integer)
caption	Albinism–deafness syndrome is inherited in an X-linked recessive manner (en)
synonyms	Woolf syndrome and Ziprkowski–Margolis syndrome (en)
has 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)
gold:hypernym	Condition
MeSH ID	C537042
prov:wasDerivedFrom	wikipedia-en:Albinism–deafness_syndrome?oldid=1110702916&ns=0
page length (characters) of wiki page	2468 (xsd:nonNegativeInteger)
ICD10	H90.5
OMIM id	300700 (xsd:integer)
ORPHA	998
foaf:isPrimaryTopicOf	wikipedia-en:Albinism–deafness_syndrome
is Link from a Wikipage to another Wikipage of	Ziprkowski–Margolis syndrome Albinism in humans Albinism-deafness syndrome List of skin conditions List of syndromes Woolf syndrome Albinism deafness syndrome Ziprkowski-Margolis syndrome
is Wikipage redirect of	Ziprkowski–Margolis syndrome Albinism-deafness syndrome Woolf syndrome Albinism deafness syndrome Ziprkowski-Margolis syndrome
is foaf:primaryTopic of	wikipedia-en:Albinism–deafness_syndrome

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