{
    "disease_id": "DOID:0110389",
    "recommended_name": {
        "id": "DOID:0110389",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110389",
        "name": "retinitis pigmentosa 73",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the HGSNAT gene on chromosome 8p11."
    },
    "synonyms": [
        {
            "id": "DOID:0110389",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110389",
            "name": "RP73",
            "description": ""
        },
        {
            "id": "MONDO:0014687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014687",
            "name": "retinitis pigmentosa 73",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene."
        },
        {
            "id": "MONDO:0014687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014687",
            "name": "HGSNAT retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0014687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014687",
            "name": "RP73",
            "description": ""
        },
        {
            "id": "MONDO:0014687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014687",
            "name": "retinitis pigmentosa 73",
            "description": ""
        },
        {
            "id": "MONDO:0014687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014687",
            "name": "retinitis pigmentosa caused by mutation in HGSNAT",
            "description": ""
        },
        {
            "id": "MONDO:0014687",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014687",
            "name": "retinitis pigmentosa type 73",
            "description": ""
        },
        {
            "id": "MIM:616544",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616544",
            "name": "Retinitis pigmentosa 73",
            "description": "Retinitis pigmentosa 73"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110389"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110389",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110389",
            "categories": []
        },
        {
            "id": "MONDO:0014687",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014687",
            "categories": []
        },
        {
            "id": "MIM:616544",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616544",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58H1L7-1",
            "uniprot_ac": "A0AC58H1L7",
            "uniprot_id": "A0AC58H1L7_DANRE",
            "refseq_ac": "XP_073775879",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "si:dkey-192p21.6",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-192p21.6",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58H1L7-1",
            "evidence": [
                {
                    "id": "0110389",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110389"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB40EBS8-1",
            "uniprot_ac": "A0AB40EBS8",
            "uniprot_id": "A0AB40EBS8_DANRE",
            "refseq_ac": "XP_002660455",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heparan-alpha-glucosaminide N-acetyltransferase isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "heparan-alpha-glucosaminide N-acetyltransferase isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hgsnat",
                    "type": "recommended"
                },
                {
                    "name": "hgsnat",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB40EBS8-1",
            "evidence": [
                {
                    "id": "0110389",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110389"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3UDW8-1",
            "uniprot_ac": "Q3UDW8",
            "uniprot_id": "HGNAT_MOUSE",
            "refseq_ac": "NP_084160",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heparan-alpha-glucosaminide N-acetyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.78",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 76",
                    "type": "synonym"
                },
                {
                    "name": "heparan-alpha-glucosaminide N-acetyltransferase precursor",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 76",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hgsnat",
                    "type": "recommended"
                },
                {
                    "name": "9430010M12Rik",
                    "type": "synonym"
                },
                {
                    "name": "D8Ertd354e",
                    "type": "synonym"
                },
                {
                    "name": "Hgsnat",
                    "type": "synonym"
                },
                {
                    "name": "Tmem76",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UDW8-1",
            "evidence": [
                {
                    "id": "0110389",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110389"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q68CP4-1",
            "uniprot_ac": "Q68CP4",
            "uniprot_id": "HGNAT_HUMAN",
            "refseq_ac": "NP_689632",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heparan-alpha-glucosaminide N-acetyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.78",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein 76",
                    "type": "synonym"
                },
                {
                    "name": "heparan-alpha-glucosaminide N-acetyltransferase isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 76",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HGSNAT",
                    "type": "recommended"
                },
                {
                    "name": "HGNAT",
                    "type": "synonym"
                },
                {
                    "name": "HGSNAT",
                    "type": "synonym"
                },
                {
                    "name": "MPS3C",
                    "type": "synonym"
                },
                {
                    "name": "RP73",
                    "type": "synonym"
                },
                {
                    "name": "TMEM76",
                    "type": "synonym"
                }
            ],
            "record_id": "Q68CP4-1",
            "evidence": [
                {
                    "id": "616544",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616544"
                },
                {
                    "id": "0110389",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110389"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZT54-1",
            "uniprot_ac": "A0A8I5ZT54",
            "uniprot_id": "A0A8I5ZT54_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heparan-alpha-glucosaminide N-acetyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hgsnat",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I5ZT54-1",
            "evidence": [
                {
                    "id": "0110389",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110389"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W4F7-1",
            "uniprot_ac": "Q9W4F7",
            "uniprot_id": "Q9W4F7_DROME",
            "refseq_ac": "NP_001284872",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "2.3.1.78",
                    "type": "synonym"
                },
                {
                    "name": "CG6903-PB",
                    "type": "synonym"
                },
                {
                    "name": "Heparan-alpha-glucosaminide N-acetyltransferase, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Heparan-alpha-glucosaminide N-acetyltransferase, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Hgsnat-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hgsnat",
                    "type": "recommended"
                },
                {
                    "name": "CG6903",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6903",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6903",
                    "type": "synonym"
                },
                {
                    "name": "Hgsnat",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W4F7-1",
            "evidence": [
                {
                    "id": "0110389",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110389"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110389"
}