loading...| Preferred Name |
Hurler syndrome |
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| Synonyms |
Mucopolysaccharidosis type 1H |
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| Definitions |
Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_93473 |
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| alternative_term |
Mucopolysaccharidosis type 1H MPSIH Mucopolysaccharidosis type IH MPS1H Hurler disease |
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| definition |
Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473 |
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| has_age_of_onset |
Infancy Neonatal |
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| has_inheritance |
Autosomal recessive |
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| hasDbXref |
ICD-10:E76.0 OMIM:607014 ICD-11:5C56.30 UMLS:C0086795 |
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| label |
Hurler syndrome |
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| notation |
ORPHA:93473 Clinical subtype |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_579 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 |
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| prefixIRI |
ORDO:Orphanet_93473 |
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| prefLabel |
Hurler syndrome |
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| present_in |
Portugal AND has_birth_prevalence_average_value : 1.05 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 0.7 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 0.26 AND has_birth_prevalence_range : 1-9 / 1 000 000 Denmark AND has_birth_prevalence_average_value : 0.38 AND has_birth_prevalence_range : 1-9 / 1 000 000 Denmark AND has_point_prevalence_range : 1-9 / 1 000 000 Australia AND has_birth_prevalence_average_value : 0.93 AND has_birth_prevalence_range : 1-9 / 1 000 000 United States AND has_point_prevalence_average_value : 0.07 AND has_point_prevalence_range : <1 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.76 AND has_point_prevalence_range : 1-9 / 1 000 000 Germany AND has_birth_prevalence_average_value : 0.64 AND has_birth_prevalence_range : 1-9 / 1 000 000 Taiwan, Province of China AND has_birth_prevalence_average_value : 0.06 AND has_birth_prevalence_range : <1 / 1 000 000 Europe AND has_point_prevalence_average_value : 0.5 AND has_point_prevalence_range : 1-9 / 1 000 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_579 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 |
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| subClassOf |