loading...| Preferred Name |
mucolipidosis type IV |
|
| Synonyms |
ML IV mucolipidosis type IV mucolipidosis type 4 MLIV Berman syndrome ML4 mucolipidosis 4 ganglioside sialidase deficiency sialolipidosis ganglioside neuraminidase deficiency ML 4 mucolipidosis IV |
|
| Definitions |
A lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009653 |
|
| has characteristic | ||
| has_exact_synonym |
ML IV mucolipidosis type IV mucolipidosis type 4 MLIV |
|
| has_related_synonym |
Berman syndrome ML4 mucolipidosis 4 ganglioside sialidase deficiency sialolipidosis ganglioside neuraminidase deficiency ML 4 mucolipidosis IV |
|
| label |
mucolipidosis type IV |
|
| prefixIRI |
MONDO:0009653 |
|
| prefLabel |
mucolipidosis type IV |
|
| textual definition |
A lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus. |
|
| subClassOf |