loading...| Preferred Name |
Mucolipidosis type II |
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| Synonyms |
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| Definitions |
(MLII): Fatal, autosomal recessive, lysosomal storage disorder characterized by severe clinical and radiologic features, peculiar fibroblast inclusions, and no excessive mucopolysacchariduria. Congenital dislocation of the hip, thoracic deformities, hernia, and hyperplastic gums are evident soon after birth. |
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| ID |
http://purl.obolibrary.org/obo/OMIM_252500 |
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| definition |
(MLII): Fatal, autosomal recessive, lysosomal storage disorder characterized by severe clinical and radiologic features, peculiar fibroblast inclusions, and no excessive mucopolysacchariduria. Congenital dislocation of the hip, thoracic deformities, hernia, and hyperplastic gums are evident soon after birth. |
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| has_obo_namespace |
cell_cycle_ontology |
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| id |
OMIM:252500 |
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| label |
Mucolipidosis type II |
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| notation |
OMIM:252500 |
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| prefLabel |
Mucolipidosis type II |
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