Mucopolysaccharidosis Iv
Disease ID: disease_node_5269
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| Dbxref | GARD:3785, ICD10CM:E76.210, MESH:D009085, MIM:253000, NCI:C84901, ORDO:309297, SNOMEDCT_US_2023_03_01:7259005, UMLS_CUI:C0086651 |
|---|---|
| Subclassof | DOID_12804, DOID_0050737 |
| Data Source | DOID, MESH |
| Synonyms | GALNS deficiency, MPS IVA, MPS4A, Morquio A disease, Morquio syndrome A |
| Mesh Id | D009085 |
| Mesh Label | Mucopolysaccharidosis IV |
| Mesh Subclassof | D009083 |
| Doid Label | mucopolysaccharidosis IVA |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_5269 |
| Doid Id | DOID_0111391 |
| Label | Mucopolysaccharidosis Iv |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)