Regulation of Gene Expression Ontolology

Last uploaded: December 16, 2015
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Preferred Name

Mucolipidosis type II
Synonyms

MLII
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.
ID

http://identifiers.org/omim/252500
altLabel

MLII
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.
id

OMIM:252500
notation

OMIM:252500
prefLabel

Mucolipidosis type II
subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031
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