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bn:00029323n
Noun Concept
Categories: Diseases named for discoverer, Lipid storage disorders, Syndromes affecting hearing, All articles containing potentially dated statements, Rare diseases
EN
Hurler's syndrome  Hurler's disease  gargoylism  dysostosis multiplex  lipochondrodystrophy
EN
Hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation WordNet 3.0
Definitions
Relations
Sources
EN
Hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation WordNet 3.0 & Open English WordNet
Hurler syndrome, also known as mucopolysaccharidosis Type IH, Hurler's disease, and formerly gargoylism, is a genetic disorder that results in the buildup of large sugar molecules called glycosaminoglycans in lysosomes. Wikipedia
Genetic disorder also known as mucopolysaccharidosis type I, Hurler's disease, or gargoylism Wikipedia Disambiguation
Lysosomal storage disease Wikidata
A genetic disorder that results in the buildup of glycosaminoglycans due to a deficiency of alpha-L iduronidase. Wiktionary
Genetic disorder. Wiktionary (translation)
IS A
monogenic disorder
mucopolysaccharidosis
disease
rare disease
malformative syndrome
+1 relations
HAS KIND
Hurler's syndrome
Scheie syndrome
Hurler–Scheie syndrome
GENETIC ASSOCIATION
Alpha-L-iduronidase
HEALTH SPECIALTY
endocrinology
MODE OF INHERITANCE
dominance
NAMED AFTER
Gertrud Hurler
WordNet 3.0 & Open English WordNet
EN
Hurler's syndrome, Hurler's disease, gargoylism, dysostosis multiplex, lipochondrodystrophy
Wikipedia
EN
Hurler syndrome
Wikidata
EN
Hurler syndrome, mucopolysaccharidosis I
Wiktionary
EN
Hurler syndrome
Wikipedia Redirections
EN
dysostosis multiplex, gargoylism, Hunter-Hurler disease, Hunter-Hurler syndrome, Hurler's disease, Hurler's syndrome, Hurler disease, Hurler Syndrome, Hurler syndrome (MPS I), lipochondrodystrophy, Mucopolysaccharidosis, type I, Mucopolysaccharidosis I, Mucopolysaccharidosis i, Mucopolysaccharidosis I H (Hurler), Pfaundler syndrome
Wikidata Alias
EN
Hurler-Scheie syndrome, Hurler syndrome, iduronidase deficiency disease, Lipochondrodystrophy, MPS I, MPS I - Hurler syndrome, Mucopolysaccharidosis, MPS-I, Mucopolysaccharidosis, type 1, Mucopolysaccharidosis I

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