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Metadata
ID DOID:0111391
Name mucopolysaccharidosis IVA
Definition A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in the GALNS gene on chromosome 16q24.3.
https://www.ncbi.nlm.nih.gov/pubmed/18412124, https://www.ncbi.nlm.nih.gov/pubmed/7607677
Xrefs

GARD:3785

ICD10CM:E76.210

MESH:D009085

NCI:C84901

OMIM:253000

ORDO:309297

SNOMEDCT_US_2023_03_01:7259005

UMLS_CUI:C0086651

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

GALNS deficiency [EXACT]

Morquio A disease [EXACT]

Morquio syndrome A [EXACT]

MPS IVA [EXACT]

MPS4A [EXACT]

Parent Relationships

is_a mucopolysaccharidosis IV

is_a autosomal recessive disease

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