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loading...| Preferred Name |
Mannosidosis |
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| Synonyms |
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| ID |
http://www.owl-ontologies.com/Ontology1358660052.owl#Mannosidosis |
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| ID |
C61275 |
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| NCI_Definition |
A rare autosomal recessive lysosomal storage disease characterized by a deficient activity of the enzymes alpha-D-mannosidase or beta-mannosidase. Clincal signs and symptoms include hepatomegaly, splenomegaly, hearing loss, mental retardation, skeletal abnormalities, and recurrent respiratory infections. |
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| NCI_PT |
Mannosidosis |
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| NICHD_Definition |
_ |
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| prefixIRI |
Mannosidosis |
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| prefLabel |
Mannosidosis |
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| Subset_Association1 |
NICHD Pediatric Terminology |
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| Subset_Association2 |
Neonatal Research Network Terminology |
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| SYN | ||
| subClassOf |
http://www.owl-ontologies.com/Ontology1358660052.owl#Autosomal_Recessive_Hereditary_Disorder |
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