{
    "disease_id": "DOID:0111391",
    "recommended_name": {
        "id": "DOID:0111391",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111391",
        "name": "mucopolysaccharidosis IVA",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0111391",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111391",
            "name": "GALNS deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111391",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111391",
            "name": "MPS IVA",
            "description": ""
        },
        {
            "id": "DOID:0111391",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111391",
            "name": "MPS4A",
            "description": ""
        },
        {
            "id": "DOID:0111391",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111391",
            "name": "Morquio A disease",
            "description": ""
        },
        {
            "id": "DOID:0111391",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111391",
            "name": "Morquio syndrome A",
            "description": ""
        },
        {
            "id": "MONDO:0009659",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009659",
            "name": "mucopolysaccharidosis type 4A",
            "description": "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits."
        },
        {
            "id": "MONDO:0009659",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009659",
            "name": "Morquio A disease",
            "description": ""
        },
        {
            "id": "MONDO:0009659",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009659",
            "name": "GALNS deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009659",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009659",
            "name": "MPS IV A",
            "description": ""
        },
        {
            "id": "MONDO:0009659",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009659",
            "name": "MPS4A",
            "description": ""
        },
        {
            "id": "MONDO:0009659",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009659",
            "name": "MPSIVA",
            "description": ""
        },
        {
            "id": "MONDO:0009659",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009659",
            "name": "Morquio disease type A",
            "description": ""
        },
        {
            "id": "MONDO:0009659",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009659",
            "name": "Morquio syndrome A",
            "description": ""
        },
        {
            "id": "MONDO:0009659",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009659",
            "name": "N-acetylgalactosamine-6-sulfate sulfatase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009659",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009659",
            "name": "galactosamine-6-sulfatase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009659",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009659",
            "name": "mucopolysaccharidosis type 4A",
            "description": ""
        },
        {
            "id": "MONDO:0009659",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009659",
            "name": "mucopolysaccharidosis type IVA",
            "description": ""
        },
        {
            "id": "MONDO:0009659",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009659",
            "name": "MPS IVA",
            "description": ""
        },
        {
            "id": "MONDO:0009659",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009659",
            "name": "mucopolysaccharidosis, type IVA",
            "description": ""
        },
        {
            "id": "MIM:253000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/253000",
            "name": "Mucopolysaccharidosis 4A",
            "description": "Mucopolysaccharidosis 4A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111391"
    ],
    "unlinked_id_list": []
}