| dbo:abstract |
Das Okulo-zerebrale Hypopigmentierungs-Syndrom ist ein sehr seltenes angeborenes Krankheitssyndrom bestehend aus Pigmentierungsstörung (Albinismus), Entwicklungshemmung der Augen (Mikrophthalmie) sowie geistiger Entwicklungsverzögerung. Synonyme sind: Cross-McKusick-Breen Syndrom; Cross-Syndrom; Kramer-Syndrom; englisch Depigmentation-Gingival Fibromatosis-Microphthalmia Die Namensbezeichnungen beziehen sich auf den Erstautor bzw. die Autoren der Erstbeschreibung aus dem Jahre 1967 durch H. E. Cross, Victor Almon McKusick und W. Breen sowie auf den Namen der Familie dieser Erstbeschreibung. (de) Cross–McKusick–Breen syndrome (also known as "Cross syndrome", "hypopigmentation and microphthalmia", and "oculocerebral-hypopigmentation syndrome") is an extremely rare disorder characterized by white skin, blond hair with yellow-gray metallic sheen, small eyes with cloudy corneas, jerky nystagmus, and severe intellectual disability and physical retardation. It was characterized in 1967. (en) La sindrome di Cross-McKusick-Breen o sindrome di Kramer è una sindrome a trasmissione autosomica recessiva caratterizzata da ipopigmentazione, difetti oculari e grave ritardo nello sviluppo. (it) |
| dbo:icd10 |
E70.3 (ILDSE70.380) |
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257800 (xsd:integer) |
| dbo:orpha |
2719 |
| dbo:thumbnail |
wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg?width=300 |
| dbo:wikiPageExternalLink |
http://www.whonamedit.com/synd.cfm/1387.html |
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| dbo:wikiPageWikiLink |
dbr:Pathologic_nystagmus dbr:Cornea dbc:Rare_syndromes dbc:Disturbances_of_human_pigmentation dbc:Genetic_disorders_with_OMIM_but_no_gene dbr:Intellectual_disability dbr:Oculocerebrocutaneous_syndrome dbr:List_of_cutaneous_conditions dbr:ILDS dbr:Gingival_fibromatosis |
| dbp:caption |
Cross syndrome is inherited in an autosomal recessive manner (en) |
| dbp:icd |
E70.3 (en) |
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150 (xsd:integer) |
| dbp:name |
Cross syndrome (en) |
| dbp:omim |
257800 (xsd:integer) |
| dbp:orphanet |
2719 (xsd:integer) |
| dbp:synonyms |
Oculocerebral hypopigmentation syndrome, Cross type (en) |
| dbp:wikiPageUsesTemplate |
dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:Rp dbt:Cutaneous-condition-stub dbt:Pigmentation_disorders |
| dbp:wordnet_type |
http://www.w3.org/2006/03/wn/wn20/instances/synset-disease-noun-1 |
| dct:subject |
dbc:Rare_syndromes dbc:Disturbances_of_human_pigmentation dbc:Genetic_disorders_with_OMIM_but_no_gene |
| rdf:type |
owl:Thing wikidata:Q12136 yago:Abstraction100002137 yago:Act100030358 yago:Activity100407535 yago:Attribute100024264 yago:Condition113920835 yago:Disease114070360 yago:Event100029378 yago:GeneticDisease114151139 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:Perturbation107428450 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 yago:WikicatGeneticDisordersWithOMIMButNoGene yago:YagoPermanentlyLocatedEntity dbo:Disease yago:State100024720 yago:WikicatDisturbancesOfHumanPigmentation |
| rdfs:comment |
Das Okulo-zerebrale Hypopigmentierungs-Syndrom ist ein sehr seltenes angeborenes Krankheitssyndrom bestehend aus Pigmentierungsstörung (Albinismus), Entwicklungshemmung der Augen (Mikrophthalmie) sowie geistiger Entwicklungsverzögerung. Synonyme sind: Cross-McKusick-Breen Syndrom; Cross-Syndrom; Kramer-Syndrom; englisch Depigmentation-Gingival Fibromatosis-Microphthalmia Die Namensbezeichnungen beziehen sich auf den Erstautor bzw. die Autoren der Erstbeschreibung aus dem Jahre 1967 durch H. E. Cross, Victor Almon McKusick und W. Breen sowie auf den Namen der Familie dieser Erstbeschreibung. (de) Cross–McKusick–Breen syndrome (also known as "Cross syndrome", "hypopigmentation and microphthalmia", and "oculocerebral-hypopigmentation syndrome") is an extremely rare disorder characterized by white skin, blond hair with yellow-gray metallic sheen, small eyes with cloudy corneas, jerky nystagmus, and severe intellectual disability and physical retardation. It was characterized in 1967. (en) La sindrome di Cross-McKusick-Breen o sindrome di Kramer è una sindrome a trasmissione autosomica recessiva caratterizzata da ipopigmentazione, difetti oculari e grave ritardo nello sviluppo. (it) |
| rdfs:label |
Cross syndrome (en) Okulozerebrales Hypopigmentierungs-Syndrom (de) Sindrome di Cross-McKusick-Breen (it) |
| owl:sameAs |
freebase:Cross syndrome yago-res:Cross syndrome wikidata:Cross syndrome dbpedia-de:Cross syndrome dbpedia-it:Cross syndrome https://global.dbpedia.org/id/4j6ev |
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wikipedia-en:Cross_syndrome?oldid=1090020037&ns=0 |
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wiki-commons:Special:FilePath/Autosomal_recessive_-_en.svg |
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wikipedia-en:Cross_syndrome |
| foaf:name |
Cross syndrome (en) |
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| is dbo:wikiPageWikiLink of |
dbr:Cross-McKusick-Breen_syndrome dbr:Hypopigmentation_and_microphthalmia dbr:Microphthalmia dbr:List_of_syndromes dbr:Oculocerebral-hypopigmentation_syndrome dbr:Cross–McKusick–Breen_syndrome |
| is foaf:primaryTopic of |
wikipedia-en:Cross_syndrome |
