loading...| Preferred Name |
Alpha-Mannosidosis |
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| Synonyms |
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| Definitions |
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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| ID |
http://purl.obolibrary.org/obo/NCIT_C84548 |
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| code |
C84548 |
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| Contributing_Source |
Cellosaurus CTRP |
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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. |
|
| Display_Name |
Alpha-Mannosidosis |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C116977 |
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| label |
Alpha-Mannosidosis |
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| Preferred_Name |
Alpha-Mannosidosis |
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| prefixIRI |
NCIT:C84548 |
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| prefLabel |
Alpha-Mannosidosis |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0024748 |
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| subClassOf |