{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0111391",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111391",
            "categories": []
        },
        {
            "id": "MONDO:0009659",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009659",
            "categories": []
        },
        {
            "id": "MIM:253000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/253000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P34059-1",
            "uniprot_ac": "P34059",
            "uniprot_id": "GALNS_HUMAN",
            "refseq_ac": "NP_000503",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-acetylgalactosamine-6-sulfatase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.6.4",
                    "type": "synonym"
                },
                {
                    "name": "Chondroitinase",
                    "type": "synonym"
                },
                {
                    "name": "Chondroitinsulfatase",
                    "type": "synonym"
                },
                {
                    "name": "GalN6S",
                    "type": "synonym"
                },
                {
                    "name": "GalNAc6S sulfatase",
                    "type": "synonym"
                },
                {
                    "name": "Galactose-6-sulfate sulfatase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylgalactosamine-6-sulfatase isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylgalactosamine-6-sulfatase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylgalactosamine-6-sulfate sulfatase",
                    "type": "synonym"
                },
                {
                    "name": "chondroitinase",
                    "type": "synonym"
                },
                {
                    "name": "chondroitinsulfatase",
                    "type": "synonym"
                },
                {
                    "name": "galNAc6S sulfatase",
                    "type": "synonym"
                },
                {
                    "name": "galactosamine (N-acetyl)-6-sulfate sulfatase",
                    "type": "synonym"
                },
                {
                    "name": "galactose-6-sulfate sulfatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GALNS",
                    "type": "recommended"
                },
                {
                    "name": "GALNAC6S",
                    "type": "synonym"
                },
                {
                    "name": "GALNS",
                    "type": "synonym"
                },
                {
                    "name": "GAS",
                    "type": "synonym"
                },
                {
                    "name": "GalN6S",
                    "type": "synonym"
                },
                {
                    "name": "MPS4A",
                    "type": "synonym"
                }
            ],
            "record_id": "P34059-1",
            "evidence": [
                {
                    "id": "2588",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/2588#disease"
                },
                {
                    "id": "253000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/253000"
                },
                {
                    "id": "0111391",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111391"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F8W261-1",
            "uniprot_ac": "F8W261",
            "uniprot_id": "F8W261_DANRE",
            "refseq_ac": "NP_001074110",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-acetylgalactosamine-6-sulfatase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.6.4",
                    "type": "synonym"
                },
                {
                    "name": "Chondroitinsulfatase",
                    "type": "synonym"
                },
                {
                    "name": "Galactose-6-sulfate sulfatase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylgalactosamine-6-sulfatase precursor",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylgalactosamine-6-sulfate sulfatase",
                    "type": "synonym"
                },
                {
                    "name": "galactosamine (N-acetyl)-6-sulfate sulfatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "galns",
                    "type": "recommended"
                },
                {
                    "name": "galns",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158385",
                    "type": "synonym"
                }
            ],
            "record_id": "F8W261-1",
            "evidence": [
                {
                    "id": "0111391",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111391"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q571E4-1",
            "uniprot_ac": "Q571E4",
            "uniprot_id": "GALNS_MOUSE",
            "refseq_ac": "NP_001180574",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-acetylgalactosamine-6-sulfatase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.6.4",
                    "type": "synonym"
                },
                {
                    "name": "Chondroitinase",
                    "type": "synonym"
                },
                {
                    "name": "Chondroitinsulfatase",
                    "type": "synonym"
                },
                {
                    "name": "GalNAc6S sulfatase",
                    "type": "synonym"
                },
                {
                    "name": "Galactose-6-sulfate sulfatase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylgalactosamine-6-sulfatase isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylgalactosamine-6-sulfatase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylgalactosamine-6-sulfate sulfatase",
                    "type": "synonym"
                },
                {
                    "name": "chondroitinase",
                    "type": "synonym"
                },
                {
                    "name": "chondroitinsulfatase",
                    "type": "synonym"
                },
                {
                    "name": "galactosamine (N-acetyl)-6-sulfate sulfatase",
                    "type": "synonym"
                },
                {
                    "name": "galactose-6-sulfate sulfatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Galns",
                    "type": "recommended"
                },
                {
                    "name": "Galns",
                    "type": "synonym"
                },
                {
                    "name": "mFLJ00319",
                    "type": "synonym"
                }
            ],
            "record_id": "Q571E4-1",
            "evidence": [
                {
                    "id": "0111391",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111391"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q32KJ6-1",
            "uniprot_ac": "Q32KJ6",
            "uniprot_id": "GALNS_RAT",
            "refseq_ac": "NP_001041316",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-acetylgalactosamine-6-sulfatase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.6.4",
                    "type": "synonym"
                },
                {
                    "name": "Chondroitinase",
                    "type": "synonym"
                },
                {
                    "name": "Chondroitinsulfatase",
                    "type": "synonym"
                },
                {
                    "name": "GalNAc6S sulfatase",
                    "type": "synonym"
                },
                {
                    "name": "Galactose-6-sulfate sulfatase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylgalactosamine-6-sulfatase precursor",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylgalactosamine-6-sulfatase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylgalactosamine-6-sulfate sulfatase",
                    "type": "synonym"
                },
                {
                    "name": "chondroitinase",
                    "type": "synonym"
                },
                {
                    "name": "chondroitinsulfatase",
                    "type": "synonym"
                },
                {
                    "name": "galNAc6S sulfatase",
                    "type": "synonym"
                },
                {
                    "name": "galactosamine (N-acetyl)-6-sulfate sulfatase",
                    "type": "synonym"
                },
                {
                    "name": "galactose-6-sulfate sulfatase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Galns",
                    "type": "recommended"
                },
                {
                    "name": "Galns",
                    "type": "synonym"
                }
            ],
            "record_id": "Q32KJ6-1",
            "evidence": [
                {
                    "id": "0111391",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111391"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111391"
}