loading...| Preferred Name |
I-Cell Disease |
|
| Synonyms |
I-Cell Disease Mucolipidosis Type II Inclusion-cell Disease |
|
| Definitions |
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. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61270 |
|
| code |
C61270 |
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 |
|
| Contributing_Source |
Cellosaurus CTRP |
|
| 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. |
|
| Display_Name |
I-Cell Disease |
|
| FULL_SYN |
I-Cell Disease Mucolipidosis Type II Inclusion-cell Disease |
|
| label |
I-Cell Disease |
|
| Legacy Concept Name |
I-Cell_Disease |
|
| Preferred_Name |
I-Cell Disease |
|
| prefixIRI |
Thesaurus:C61270 |
|
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0020725 |
|
| subClassOf |