Disease

mucopolysaccharidosis type IIID

Name: mucopolysaccharidosis type IIID
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0111402 mucopolysaccharidosis type IIID A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3. MPS IIID Mucopolysaccharidosis type 3D Sanfilippo syndrome type D Sanfilippo syndrome D GNS deficiency N-acetylglucosamine-6-sulfatase deficiency MPS3D

Definition

A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3.

Synonyms

GNS deficiency
MPS IIID

Cross References

GARD:7074
ICD10CM:E76.22

Parent Terms

autosomal recessive disease
mucopolysaccharidosis III

Child Terms

None

Sources of Associations

RGD
MGI
ZFIN
FB
WB
SGD

Associated Genes

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Associated Alleles

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Associated Models

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