{
    "disease_id": "DOID:0050809",
    "recommended_name": {
        "id": "DOID:0050809",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050809",
        "name": "mucopolysaccharidosis IX",
        "description": "A mucopolysaccharidosis characterized by a deficiency in hyaluronidase."
    },
    "synonyms": [
        {
            "id": "MONDO:0011093",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011093",
            "name": "mucopolysaccharidosis type 9",
            "description": "An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency."
        },
        {
            "id": "MONDO:0011093",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011093",
            "name": "MPS9",
            "description": ""
        },
        {
            "id": "MONDO:0011093",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011093",
            "name": "MPSIX",
            "description": ""
        },
        {
            "id": "MONDO:0011093",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011093",
            "name": "mucopolysaccharidosis type 9",
            "description": ""
        },
        {
            "id": "MONDO:0011093",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011093",
            "name": "mucopolysaccharidosis type IX",
            "description": ""
        },
        {
            "id": "MONDO:0011093",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011093",
            "name": "mucopolysaccharidosis, type IX",
            "description": ""
        },
        {
            "id": "MIM:601492",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601492",
            "name": "Mucopolysaccharidosis 9",
            "description": "Mucopolysaccharidosis 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050809"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050809",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050809",
            "categories": []
        },
        {
            "id": "MONDO:0011093",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011093",
            "categories": []
        },
        {
            "id": "MIM:601492",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601492",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TSM3-1",
            "uniprot_ac": "A0AB32TSM3",
            "uniprot_id": "A0AB32TSM3_DANRE",
            "refseq_ac": "NP_001035086",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hyaluronidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.35",
                    "type": "synonym"
                },
                {
                    "name": "hyaluronidase-1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "hyaluronoglucosaminidase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hyal1",
                    "type": "recommended"
                },
                {
                    "name": "hyal1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136804",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TSM3-1",
            "evidence": [
                {
                    "id": "0050809",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050809"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91ZJ9-1",
            "uniprot_ac": "Q91ZJ9",
            "uniprot_id": "HYAL1_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hyaluronidase-1",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.35",
                    "type": "synonym"
                },
                {
                    "name": "Hyal-1",
                    "type": "synonym"
                },
                {
                    "name": "Hyaluronoglucosaminidase-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hyal1",
                    "type": "recommended"
                }
            ],
            "record_id": "Q91ZJ9-1",
            "evidence": [
                {
                    "id": "0050809",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050809"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12794-1",
            "uniprot_ac": "Q12794",
            "uniprot_id": "HYAL1_HUMAN",
            "refseq_ac": "NP_149349",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hyaluronidase-1",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.35",
                    "type": "synonym"
                },
                {
                    "name": "Hyal-1",
                    "type": "synonym"
                },
                {
                    "name": "Hyaluronoglucosaminidase-1",
                    "type": "synonym"
                },
                {
                    "name": "LuCa-1",
                    "type": "synonym"
                },
                {
                    "name": "Lung carcinoma protein 1",
                    "type": "synonym"
                },
                {
                    "name": "hyaluronidase-1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "hyaluronoglucosaminidase 1",
                    "type": "synonym"
                },
                {
                    "name": "luCa-1",
                    "type": "synonym"
                },
                {
                    "name": "lung carcinoma protein 1",
                    "type": "synonym"
                },
                {
                    "name": "plasma hyaluronidase",
                    "type": "synonym"
                },
                {
                    "name": "tumor suppressor LUCA-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HYAL1",
                    "type": "recommended"
                },
                {
                    "name": "HYAL-1",
                    "type": "synonym"
                },
                {
                    "name": "HYAL1",
                    "type": "synonym"
                },
                {
                    "name": "LUCA1",
                    "type": "synonym"
                },
                {
                    "name": "MPS9",
                    "type": "synonym"
                },
                {
                    "name": "NAT6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12794-1",
            "evidence": [
                {
                    "id": "601492",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601492"
                },
                {
                    "id": "0050809",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050809"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q76HN1-1",
            "uniprot_ac": "Q76HN1",
            "uniprot_id": "HYAL1_RAT",
            "refseq_ac": "NP_997499",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hyaluronidase-1",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.35",
                    "type": "synonym"
                },
                {
                    "name": "Hyal-1",
                    "type": "synonym"
                },
                {
                    "name": "Hyaluronoglucosaminidase-1",
                    "type": "synonym"
                },
                {
                    "name": "hyal-1",
                    "type": "synonym"
                },
                {
                    "name": "hyaluronidase-1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "hyaluronoglucosaminidase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hyal1",
                    "type": "recommended"
                },
                {
                    "name": "Hyal1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q76HN1-1",
            "evidence": [
                {
                    "id": "0050809",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050809"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050809"
}