About: Leber congenital amaurosis     Goto   Sponge   NotDistinct   Permalink

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retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness

AttributesValues
rdf:type
owl:sameAs
description
  • Krankheit (de)
  • хвороба (uk)
  • rara malattia genetica della retina che comporta la cecità nei nascituri (it)
  • a szem betegsége (hu)
  • retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness (en)
  • maladie génétique grave de la rétine (fr)
exact match
exact match
health specialty
DiseasesDB
Disease Ontology ID
Disease Ontology ID
health specialty
DiseasesDB
  • 33192
Disease Ontology ID
  • DOID:14791
rdfs:label
  • Leber congenital amaurosis (en)
  • Neuropatia óptica hereditária de Leber (pt)
  • Amaurosi congènita de Leber (ca)
  • Amaurosis congénita de Leber (es)
  • Leber-féle veleszületett vakság (hu)
  • Leberi tüüpi pärilik amauroos (et)
  • Leberin synnynnäinen amauroosi (fi)
  • Leberjeva kongenitalna amavroza (sl)
  • Leberova kongenitalna amauroza (bs)
  • Lebersche Kongenitale Amaurose (de)
  • Wrodzona ślepota Lebera (pl)
  • amaurose congénitale de Leber (fr)
  • amaurosi congenita di Leber (it)
  • mù bẩm sinh Leber (vi)
  • بیماری لبر(LCA) آموروزیس مادرزادی (fa)
  • Амавроз Лебера (ru)
  • Тумыштагы Лебер амаврозы (tt)
  • كمنة ليبر الخلقية (ar)
  • レーバー先天性黒内障 (ja)
skos:prefLabel
  • Leber congenital amaurosis (en)
  • Neuropatia óptica hereditária de Leber (pt)
  • Amaurosi congènita de Leber (ca)
  • Amaurosis congénita de Leber (es)
  • Leber-féle veleszületett vakság (hu)
  • Leberi tüüpi pärilik amauroos (et)
  • Leberin synnynnäinen amauroosi (fi)
  • Leberjeva kongenitalna amavroza (sl)
  • Leberova kongenitalna amauroza (bs)
  • Lebersche Kongenitale Amaurose (de)
  • Wrodzona ślepota Lebera (pl)
  • amaurose congénitale de Leber (fr)
  • amaurosi congenita di Leber (it)
  • mù bẩm sinh Leber (vi)
  • بیماری لبر(LCA) آموروزیس مادرزادی (fa)
  • Амавроз Лебера (ru)
  • Тумыштагы Лебер амаврозы (tt)
  • كمنة ليبر الخلقية (ar)
  • レーバー先天性黒内障 (ja)
name
  • Leber congenital amaurosis (en)
  • Neuropatia óptica hereditária de Leber (pt)
  • Amaurosi congènita de Leber (ca)
  • Amaurosis congénita de Leber (es)
  • Leber-féle veleszületett vakság (hu)
  • Leberi tüüpi pärilik amauroos (et)
  • Leberin synnynnäinen amauroosi (fi)
  • Leberjeva kongenitalna amavroza (sl)
  • Leberova kongenitalna amauroza (bs)
  • Lebersche Kongenitale Amaurose (de)
  • Wrodzona ślepota Lebera (pl)
  • amaurose congénitale de Leber (fr)
  • amaurosi congenita di Leber (it)
  • mù bẩm sinh Leber (vi)
  • بیماری لبر(LCA) آموروزیس مادرزادی (fa)
  • Амавроз Лебера (ru)
  • Тумыштагы Лебер амаврозы (tt)
  • كمنة ليبر الخلقية (ar)
  • レーバー先天性黒内障 (ja)
Freebase ID
Freebase ID
  • /m/07z8sz
instance of
instance of
subclass of
subclass of
Encyclopædia Britannica Online ID
Encyclopædia Britannica Online ID
  • science/Lebers-disease
KEGG ID
KEGG ID
KEGG ID
  • H00837
Orphanet ID
genetic association
GARD rare disease ID
OMIM ID
GeneReviews ID
Genetics Home Reference Conditions ID
Orphanet ID
  • 65
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