{
    "disease_id": "DOID:0050816",
    "recommended_name": {
        "id": "DOID:0050816",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050816",
        "name": "urofacial syndrome",
        "description": "A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding."
    },
    "synonyms": [
        {
            "id": "DOID:0050816",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050816",
            "name": "Ochoa syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050816",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050816",
            "name": "hydronephrosis with peculiar facial expression",
            "description": ""
        },
        {
            "id": "MONDO:0009368",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009368",
            "name": "urofacial syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009368",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009368",
            "name": "urofacial syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009368",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009368",
            "name": "UFS1",
            "description": ""
        },
        {
            "id": "MONDO:0009368",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009368",
            "name": "urofacial syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0014049",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014049",
            "name": "urofacial syndrome 2",
            "description": "Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene."
        },
        {
            "id": "MONDO:0014049",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014049",
            "name": "LRIG2 Ochoa syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014049",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014049",
            "name": "Ochoa syndrome caused by mutation in LRIG2",
            "description": ""
        },
        {
            "id": "MONDO:0014049",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014049",
            "name": "urofacial syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0014049",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014049",
            "name": "urofacial syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014049",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014049",
            "name": "UFS2",
            "description": ""
        },
        {
            "id": "MIM:236730",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/236730",
            "name": "Urofacial syndrome 1",
            "description": "Urofacial syndrome 1"
        },
        {
            "id": "MIM:615112",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615112",
            "name": "Urofacial syndrome 2",
            "description": "Urofacial syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050816"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050816",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050816",
            "categories": []
        },
        {
            "id": "MONDO:0009368",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009368",
            "categories": []
        },
        {
            "id": "MONDO:0014049",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014049",
            "categories": []
        },
        {
            "id": "MIM:236730",
            "database": "MIM",
            "url": "https://www.omim.org/entry/236730",
            "categories": []
        },
        {
            "id": "MIM:615112",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615112",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3B5H5-1",
            "uniprot_ac": "A0A8M3B5H5",
            "uniprot_id": "A0A8M3B5H5_DANRE",
            "refseq_ac": "XP_009305812",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inactive heparanase-2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "inactive heparanase-2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hpse2",
                    "type": "recommended"
                },
                {
                    "name": "hpse2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3B5H5-1",
            "evidence": [
                {
                    "id": "0050816",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050816"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B2RY83-1",
            "uniprot_ac": "B2RY83",
            "uniprot_id": "HPSE2_MOUSE",
            "refseq_ac": "NP_001074726",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inactive heparanase-2",
                    "type": "recommended"
                },
                {
                    "name": "Hpa2",
                    "type": "synonym"
                },
                {
                    "name": "inactive heparanase-2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "inactive heparanase-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hpse2",
                    "type": "recommended"
                },
                {
                    "name": "Gm968",
                    "type": "synonym"
                },
                {
                    "name": "Hpa2",
                    "type": "synonym"
                },
                {
                    "name": "Hpse2",
                    "type": "synonym"
                }
            ],
            "record_id": "B2RY83-1",
            "evidence": [
                {
                    "id": "0050816",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050816"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q52KR2-1",
            "uniprot_ac": "Q52KR2",
            "uniprot_id": "LRIG2_MOUSE",
            "refseq_ac": "NP_001020238",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-rich repeats and immunoglobulin-like domains protein 2",
                    "type": "recommended"
                },
                {
                    "name": "LIG-2",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeats and immunoglobulin-like domains protein 2 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeats and immunoglobulin-like domains protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrig2",
                    "type": "recommended"
                },
                {
                    "name": "4632419I10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0806",
                    "type": "synonym"
                },
                {
                    "name": "LIG-2",
                    "type": "synonym"
                },
                {
                    "name": "Lrig2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q52KR2-1",
            "evidence": [
                {
                    "id": "0050816",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050816"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O94898-1",
            "uniprot_ac": "O94898",
            "uniprot_id": "LRIG2_HUMAN",
            "refseq_ac": "NP_001299615",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-rich repeats and immunoglobulin-like domains protein 2",
                    "type": "recommended"
                },
                {
                    "name": "LIG-2",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeats and immunoglobulin-like domains protein 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeats and immunoglobulin-like domains protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LRIG2",
                    "type": "recommended"
                },
                {
                    "name": "KIAA0806",
                    "type": "synonym"
                },
                {
                    "name": "LIG-2",
                    "type": "synonym"
                },
                {
                    "name": "LIG2",
                    "type": "synonym"
                },
                {
                    "name": "LRIG2",
                    "type": "synonym"
                },
                {
                    "name": "UFS2",
                    "type": "synonym"
                }
            ],
            "record_id": "O94898-1",
            "evidence": [
                {
                    "id": "615112",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615112"
                },
                {
                    "id": "0050816",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050816"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WWQ2-1",
            "uniprot_ac": "Q8WWQ2",
            "uniprot_id": "HPSE2_HUMAN",
            "refseq_ac": "NP_001159716",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inactive heparanase-2",
                    "type": "recommended"
                },
                {
                    "name": "Hpa2",
                    "type": "synonym"
                },
                {
                    "name": "heparanase 3",
                    "type": "synonym"
                },
                {
                    "name": "heparanase-like protein",
                    "type": "synonym"
                },
                {
                    "name": "inactive heparanase-2 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "inactive heparanase-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HPSE2",
                    "type": "recommended"
                },
                {
                    "name": "HPA2",
                    "type": "synonym"
                },
                {
                    "name": "HPR2",
                    "type": "synonym"
                },
                {
                    "name": "HPSE2",
                    "type": "synonym"
                },
                {
                    "name": "UFS1",
                    "type": "synonym"
                },
                {
                    "name": "UFS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WWQ2-1",
            "evidence": [
                {
                    "id": "236730",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/236730"
                },
                {
                    "id": "0050816",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050816"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AN52-1",
            "uniprot_ac": "A0A8I6AN52",
            "uniprot_id": "A0A8I6AN52_RAT",
            "refseq_ac": "NP_001402738",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heparanase 2 (inactive)",
                    "type": "synonym"
                },
                {
                    "name": "heparanase-2",
                    "type": "synonym"
                },
                {
                    "name": "inactive heparanase-2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "inactive heparanase-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hpse2",
                    "type": "recommended"
                },
                {
                    "name": "Hpse2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AN52-1",
            "evidence": [
                {
                    "id": "0050816",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050816"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZQV2-1",
            "uniprot_ac": "D3ZQV2",
            "uniprot_id": "D3ZQV2_RAT",
            "refseq_ac": "NP_001101180",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-rich repeats and immunoglobulin-like domains protein 2",
                    "type": "recommended"
                },
                {
                    "name": "leucine-rich repeats and immunoglobulin-like domains protein 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeats and immunoglobulin-like domains protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrig2",
                    "type": "recommended"
                },
                {
                    "name": "Lrig2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZQV2-1",
            "evidence": [
                {
                    "id": "0050816",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050816"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1ZAB1-1",
            "uniprot_ac": "A1ZAB1",
            "uniprot_id": "A1ZAB1_DROME",
            "refseq_ac": "NP_611091",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG8434-PB",
                    "type": "synonym"
                },
                {
                    "name": "Lambik",
                    "type": "synonym"
                },
                {
                    "name": "kekkon-like",
                    "type": "synonym"
                },
                {
                    "name": "lambik",
                    "type": "synonym"
                },
                {
                    "name": "lbk-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lbk",
                    "type": "recommended"
                },
                {
                    "name": "CG8434",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8434",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8434",
                    "type": "synonym"
                },
                {
                    "name": "Lbk",
                    "type": "synonym"
                },
                {
                    "name": "lbk",
                    "type": "synonym"
                }
            ],
            "record_id": "A1ZAB1-1",
            "evidence": [
                {
                    "id": "0050816",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050816"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VE79-1",
            "uniprot_ac": "Q9VE79",
            "uniprot_id": "Q9VE79_DROME",
            "refseq_ac": "NP_650718",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heparanase",
                    "type": "recommended"
                },
                {
                    "name": "CG14309-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG14309",
                    "type": "recommended"
                },
                {
                    "name": "CG14309",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14309",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14309",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VE79-1",
            "evidence": [
                {
                    "id": "0050816",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050816"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050816"
}