loading...| Preferred Name |
Alpha-Mannosidosis |
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| Synonyms |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Alpha-Mannosidosis |
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| DEFINITION |
An autosomal recessive lysosomal storage disease characterized by deficient activity of the enzyme alpha-D-mannosidase. There is a wide range of signs and symptoms including hepatomegaly, splenomegaly, hearing loss, respiratory infections, mental retardation, skeletal abnormalities, leveled nasal bridge and protruding forehead. |
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| isDefinedBy |
An autosomal recessive lysosomal storage disease characterized by deficient activity of the enzyme alpha-D-mannosidase. There is a wide range of signs and symptoms including hepatomegaly, splenomegaly, hearing loss, respiratory infections, mental retardation, skeletal abnormalities, leveled nasal bridge and protruding forehead. |
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| label |
Alpha-Mannosidosis |
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| prefixIRI |
Thesaurus:Alpha-Mannosidosis |
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| prefLabel |
Alpha-Mannosidosis |
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| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Mannosidosis |