mucopolysaccharidosis type 2
A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement.
MONDO:0015920
obsolete syndromic neurometabolic disease with X-linked intellectual disability (obsolete MONDO:0015920)
excluded_subClassOf
MONDO:0016326
obsolete lysosomal disease with hypertrophic cardiomyopathy (obsolete MONDO:0016326)
excluded_subClassOf
MONDO:0019301
obsolete metabolic disease with skin involvement (obsolete MONDO:0019301)
excluded_subClassOf
MONDO:0019706
obsolete lysosomal storage disease with skeletal involvement (obsolete MONDO:0019706)
excluded_subClassOf
MONDO:0020158
obsolete eyelids malposition disorder (obsolete MONDO:0020158)
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0019249
mucopolysaccharidosis
is_a
MONDO:0800088
lysosomal storage disease with skeletal involvement
is_a
Hunter syndrome
exact
Hunter's syndrome
exact
I2S deficiency
exact
IDS deficiency
exact
MPS 2
exact
MPS II
exact
MPS with skin involvement
exact
MPS2
exact
MPSII
exact
Mucopolysaccharidosis Type II
exact
SIDS deficiency
exact
attenuated MPS (subtype; formerly known as mild MPS II)
exact
iduronate 2-sulfatase deficiency
exact
mucopolysaccharidosis II, X-linked recessive
exact
mucopolysaccharidosis type 2
exact
mucopolysaccharidosis type II
exact
mucopolysaccharidosis with skin involvement
exact
mucopolysaccharidosis, type 2
exact
mucopolysaccharidosis, type II
exact
severe MPS II
exact
sulfoiduronate sulfatase deficiency
exact