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loading...| Preferred Name |
Mucolipidosis Type IV |
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| Synonyms |
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| Definitions |
An autosomal recessive lysosomal storage disease caused by mutations in the MCOLN1 gene. It is characterized by psychomotor developmental delays and ophthalmologic abnormalities. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C84896 |
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| code |
C84896 |
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| Contributing_Source |
Cellosaurus |
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| definition |
An autosomal recessive lysosomal storage disease caused by mutations in the MCOLN1 gene. It is characterized by psychomotor developmental delays and ophthalmologic abnormalities. |
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| in_subset | ||
| label |
Mucolipidosis Type IV |
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| Preferred_Name |
Mucolipidosis Type IV |
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| prefixIRI |
NCIT:C84896 |
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| prefLabel |
Mucolipidosis Type IV |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0238286 |
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| subClassOf |
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