loading...| Preferred Name |
mucolipidosis type II |
|
| Synonyms |
mucolipidosis type II alpha/beta N-acetylglucosamine 1-phosphotransferase deficiency I-cell disease mucolipidosis type II mucolipidosis II inclusion cell disease N-acetylglucosamine 1phosphotransferase deficiency mucolipidosis 2 ML disorder type 2 mucolipidosis II alpha/beta mucolipidosis 2 alpha/beta GNPTA I cell disease Leroy disease ML 2 Alpha/Beta ML 2 |
|
| Definitions |
Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009650 |
|
| has_exact_synonym |
mucolipidosis type II alpha/beta N-acetylglucosamine 1-phosphotransferase deficiency I-cell disease mucolipidosis type II mucolipidosis II |
|
| has_related_synonym |
inclusion cell disease N-acetylglucosamine 1phosphotransferase deficiency mucolipidosis 2 ML disorder type 2 mucolipidosis II alpha/beta mucolipidosis 2 alpha/beta GNPTA I cell disease Leroy disease ML 2 Alpha/Beta ML 2 |
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| IAO_0000233 | ||
| label |
mucolipidosis type II |
|
| prefixIRI |
MONDO:0009650 |
|
| prefLabel |
mucolipidosis type II |
|
| textual definition |
Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly. |
|
| subClassOf |