{
    "disease_id": "DOID:0111395",
    "recommended_name": {
        "id": "DOID:0111395",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111395",
        "name": "mucopolysaccharidosis type IIIA",
        "description": "A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111395",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111395",
            "name": "MPS3A",
            "description": ""
        },
        {
            "id": "DOID:0111395",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111395",
            "name": "MPSIIIA",
            "description": ""
        },
        {
            "id": "DOID:0111395",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111395",
            "name": "Sanfilippo syndrome type A",
            "description": ""
        },
        {
            "id": "DOID:0111395",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111395",
            "name": "heparan sulfamidase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111395",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111395",
            "name": "mucopolysaccharidosis III-A",
            "description": ""
        },
        {
            "id": "DOID:0111395",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111395",
            "name": "mucopolysaccharidosis type 3A",
            "description": ""
        },
        {
            "id": "DOID:0111395",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111395",
            "name": "mucopolysaccharidosis type IIIA (Sanfilippo A)",
            "description": ""
        },
        {
            "id": "MONDO:0009655",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009655",
            "name": "mucopolysaccharidosis type 3A",
            "description": "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures."
        },
        {
            "id": "MONDO:0009655",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009655",
            "name": "MPS III A",
            "description": ""
        },
        {
            "id": "MONDO:0009655",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009655",
            "name": "MPS3A",
            "description": ""
        },
        {
            "id": "MONDO:0009655",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009655",
            "name": "MPSIIIA",
            "description": ""
        },
        {
            "id": "MONDO:0009655",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009655",
            "name": "Sanfilippo A",
            "description": ""
        },
        {
            "id": "MONDO:0009655",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009655",
            "name": "Sanfilippo syndrome a",
            "description": ""
        },
        {
            "id": "MONDO:0009655",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009655",
            "name": "Sanfilippo syndrome type A",
            "description": ""
        },
        {
            "id": "MONDO:0009655",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009655",
            "name": "heparan sulfamidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009655",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009655",
            "name": "mucopolysaccharidosis type 3A",
            "description": ""
        },
        {
            "id": "MONDO:0009655",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009655",
            "name": "mucopolysaccharidosis type IIIA",
            "description": ""
        },
        {
            "id": "MONDO:0009655",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009655",
            "name": "MPS IIIA",
            "description": ""
        },
        {
            "id": "MONDO:0009655",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009655",
            "name": "heparan sulphate sulfatase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009655",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009655",
            "name": "heparane sulfamidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009655",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009655",
            "name": "mucopoly-saccharidosis type 3A",
            "description": ""
        },
        {
            "id": "MONDO:0009655",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009655",
            "name": "mucopolysaccharidosis, type IIIA",
            "description": ""
        },
        {
            "id": "MIM:252900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/252900",
            "name": "Mucopolysaccharidosis 3A",
            "description": "Mucopolysaccharidosis 3A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111395"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111395",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111395",
            "categories": []
        },
        {
            "id": "MONDO:0009655",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009655",
            "categories": []
        },
        {
            "id": "MIM:252900",
            "database": "MIM",
            "url": "https://www.omim.org/entry/252900",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P51688-1",
            "uniprot_ac": "P51688",
            "uniprot_id": "SPHM_HUMAN",
            "refseq_ac": "NP_000190",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-sulphoglucosamine sulphohydrolase",
                    "type": "recommended"
                },
                {
                    "name": "3.10.1.1",
                    "type": "synonym"
                },
                {
                    "name": "N-sulfoglucosamine sulfohydrolase isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "Sulfoglucosamine sulfamidase",
                    "type": "synonym"
                },
                {
                    "name": "Sulphamidase",
                    "type": "synonym"
                },
                {
                    "name": "heparan sulfate sulfatase",
                    "type": "synonym"
                },
                {
                    "name": "mucopolysaccharidosis type IIIA",
                    "type": "synonym"
                },
                {
                    "name": "sulfoglucosamine sulfamidase",
                    "type": "synonym"
                },
                {
                    "name": "sulphamidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SGSH",
                    "type": "recommended"
                },
                {
                    "name": "HSS",
                    "type": "synonym"
                },
                {
                    "name": "MPS3A",
                    "type": "synonym"
                },
                {
                    "name": "SFMD",
                    "type": "synonym"
                },
                {
                    "name": "SGSH",
                    "type": "synonym"
                }
            ],
            "record_id": "P51688-1",
            "evidence": [
                {
                    "id": "6448",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/6448#disease"
                },
                {
                    "id": "0009655",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009655"
                },
                {
                    "id": "252900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/252900"
                },
                {
                    "id": "0111395",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111395"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B0V3V9-1",
            "uniprot_ac": "B0V3V9",
            "uniprot_id": "B0V3V9_DANRE",
            "refseq_ac": "NP_001116740",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "3.10.1.1",
                    "type": "synonym"
                },
                {
                    "name": "N-sulfoglucosamine sulfohydrolase precursor",
                    "type": "synonym"
                },
                {
                    "name": "N-sulphoglucosamine sulphohydrolase precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sgsh",
                    "type": "recommended"
                },
                {
                    "name": "sgsh",
                    "type": "synonym"
                },
                {
                    "name": "wu:fe14h11",
                    "type": "synonym"
                }
            ],
            "record_id": "B0V3V9-1",
            "evidence": [
                {
                    "id": "0111395",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111395"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZZ84-1",
            "uniprot_ac": "A0A8I5ZZ84",
            "uniprot_id": "A0A8I5ZZ84_RAT",
            "refseq_ac": "NP_001413999",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-sulfoglucosamine sulfohydrolase precursor",
                    "type": "synonym"
                },
                {
                    "name": "N-sulfoglucosamine sulfohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "N-sulphoglucosamine sulphohydrolase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sgsh",
                    "type": "recommended"
                },
                {
                    "name": "Sgsh",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZZ84-1",
            "evidence": [
                {
                    "id": "0111395",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111395"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VE24-1",
            "uniprot_ac": "Q9VE24",
            "uniprot_id": "Q9VE24_DROME",
            "refseq_ac": "NP_650760",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "3.1.6.-",
                    "type": "synonym"
                },
                {
                    "name": "3.10.1.1",
                    "type": "synonym"
                },
                {
                    "name": "CG14291-PA",
                    "type": "synonym"
                },
                {
                    "name": "N-sulfoglucosamine sulfohydrolase",
                    "type": "synonym"
                },
                {
                    "name": "Sgsh-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sgsh",
                    "type": "recommended"
                },
                {
                    "name": "CG14291",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14291",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14291",
                    "type": "synonym"
                },
                {
                    "name": "SGSH",
                    "type": "synonym"
                },
                {
                    "name": "Sgsh",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VE24-1",
            "evidence": [
                {
                    "id": "0111395",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111395"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111395"
}