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| Term | mucopolysaccharidosis IVA | ID (Ontology) | DOID:0111391 (Human Disease) |
| 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. | ||
| Also Known As | "GALNS deficiency" ; "Morquio A disease" ; "Morquio syndrome A" (for all, see Synonyms field below) | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ mucopolysaccharidosis | |__mucopolysaccharidosis IV_____| mucopolysaccharidosis IVA 4 rec. |
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| Is a |
autosomal recessive disease mucopolysaccharidosis IV |
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GARD:3785 ICD10CM:E76.210 MESH:D009085 MIM:253000 NCI:C84901 ORDO:309297 SNOMEDCT_US_2023_03_01:7259005 UMLS_CUI:C0086651 |
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