loading...| Preferred Name |
Mannosidosis |
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| Synonyms |
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| Definitions |
A rare autosomal recessive lysosomal storage disease characterized by a deficient activity of the enzymes alpha-D-mannosidase or beta-mannosidase. Clinical signs and symptoms include hepatomegaly, splenomegaly, hearing loss, mental retardation, skeletal abnormalities, and recurrent respiratory infections. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C61275 |
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| code |
C61275 |
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| Contributing_Source |
CTRP NICHD |
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| definition |
A rare autosomal recessive lysosomal storage disease characterized by a deficient activity of the enzymes alpha-D-mannosidase or beta-mannosidase. Clinical signs and symptoms include hepatomegaly, splenomegaly, hearing loss, mental retardation, skeletal abnormalities, and recurrent respiratory infections. |
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| Display_Name |
Mannosidosis |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C116977 |
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| label |
Mannosidosis |
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| Legacy Concept Name |
Mannosidosis |
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| Preferred_Name |
Mannosidosis |
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| prefixIRI |
NCIT:C61275 |
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| prefLabel |
Mannosidosis |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C1257960 |
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| subClassOf |