loading...| Preferred Name |
I-Cell Disease |
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| Synonyms |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#I-Cell_Disease |
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| DEFINITION |
An inherited lysosomal storage disease characterized by the presence of dense intracytoplasmic inclusions in mesenchymal cells, especially fibroblasts. Signs and symptoms include developmental delay, psychomotor deterioration, and growth failure. |
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| FULL_SYN |
Inclusion-cell Disease Mucolipidosis Type II |
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| isDefinedBy |
An inherited lysosomal storage disease characterized by the presence of dense intracytoplasmic inclusions in mesenchymal cells, especially fibroblasts. Signs and symptoms include developmental delay, psychomotor deterioration, and growth failure. |
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| label |
I-Cell Disease |
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| prefixIRI |
Thesaurus:I-Cell_Disease |
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| prefLabel |
I-Cell Disease |
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| Synonym |
Inclusion-cell Disease Mucolipidosis Type II |
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| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Mucolipidosis |