{
    "disease_id": "DOID:0080612",
    "recommended_name": {
        "id": "DOID:0080612",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080612",
        "name": "anterior segment dysgenesis 7",
        "description": "An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the PXDN gene on chromosome 2p25."
    },
    "synonyms": [
        {
            "id": "MONDO:0010015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010015",
            "name": "anterior segment dysgenesis 7",
            "description": "Any anterior segment dysgenesis in which the cause of the disease is a mutation in the PXDN gene."
        },
        {
            "id": "MONDO:0010015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010015",
            "name": "CCMCO",
            "description": ""
        },
        {
            "id": "MONDO:0010015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010015",
            "name": "PXDN anterior segment dysgenesis",
            "description": ""
        },
        {
            "id": "MONDO:0010015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010015",
            "name": "PXDN-related ocular dysgenesis",
            "description": ""
        },
        {
            "id": "MONDO:0010015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010015",
            "name": "anterior segment dysgenesis 7",
            "description": ""
        },
        {
            "id": "MONDO:0010015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010015",
            "name": "anterior segment dysgenesis 7, with sclerocornea",
            "description": ""
        },
        {
            "id": "MONDO:0010015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010015",
            "name": "anterior segment dysgenesis caused by mutation in PXDN",
            "description": ""
        },
        {
            "id": "MONDO:0010015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010015",
            "name": "sclerocornea with other ocular anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0010015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010015",
            "name": "ASGD7",
            "description": ""
        },
        {
            "id": "MONDO:0010015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010015",
            "name": "COPOA",
            "description": ""
        },
        {
            "id": "MONDO:0010015",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010015",
            "name": "corneal opacification with other ocular anomalies",
            "description": ""
        },
        {
            "id": "MIM:269400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/269400",
            "name": "Anterior segment dysgenesis 7",
            "description": "Anterior segment dysgenesis 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080612"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080612",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080612",
            "categories": []
        },
        {
            "id": "MONDO:0010015",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010015",
            "categories": []
        },
        {
            "id": "MIM:269400",
            "database": "MIM",
            "url": "https://www.omim.org/entry/269400",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q3UQ28-1",
            "uniprot_ac": "Q3UQ28",
            "uniprot_id": "PXDN_MOUSE",
            "refseq_ac": "NP_852060",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxidasin homolog",
                    "type": "recommended"
                },
                {
                    "name": "1.11.2.-",
                    "type": "synonym"
                },
                {
                    "name": "peroxidasin homolog precursor",
                    "type": "synonym"
                },
                {
                    "name": "peroxidasin homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pxdn",
                    "type": "recommended"
                },
                {
                    "name": "2310075M15Rik",
                    "type": "synonym"
                },
                {
                    "name": "E330004E07",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0230",
                    "type": "synonym"
                },
                {
                    "name": "Pxdn",
                    "type": "synonym"
                },
                {
                    "name": "VPO1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0230",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UQ28-1",
            "evidence": [
                {
                    "id": "0080612",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080612"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92626-1",
            "uniprot_ac": "Q92626",
            "uniprot_id": "PXDN_HUMAN",
            "refseq_ac": "NP_036425",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxidasin homolog",
                    "type": "recommended"
                },
                {
                    "name": "1.11.2.-",
                    "type": "synonym"
                },
                {
                    "name": "Melanoma-associated antigen MG50",
                    "type": "synonym"
                },
                {
                    "name": "Peroxidasin 1",
                    "type": "synonym"
                },
                {
                    "name": "Vascular peroxidase 1",
                    "type": "synonym"
                },
                {
                    "name": "hsPxd01",
                    "type": "synonym"
                },
                {
                    "name": "melanoma-associated antigen MG50",
                    "type": "synonym"
                },
                {
                    "name": "p53-responsive gene 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "peroxidasin 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxidasin homolog isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "peroxidasin homolog",
                    "type": "synonym"
                },
                {
                    "name": "vascular peroxidase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PXDN",
                    "type": "recommended"
                },
                {
                    "name": "ASGD7",
                    "type": "synonym"
                },
                {
                    "name": "COPOA",
                    "type": "synonym"
                },
                {
                    "name": "D2S448E",
                    "type": "synonym"
                },
                {
                    "name": "D2S448",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0230",
                    "type": "synonym"
                },
                {
                    "name": "MG50",
                    "type": "synonym"
                },
                {
                    "name": "PRG2",
                    "type": "synonym"
                },
                {
                    "name": "PXD01",
                    "type": "synonym"
                },
                {
                    "name": "PXDN",
                    "type": "synonym"
                },
                {
                    "name": "PXN",
                    "type": "synonym"
                },
                {
                    "name": "VPO1",
                    "type": "synonym"
                },
                {
                    "name": "VPO",
                    "type": "synonym"
                },
                {
                    "name": "hsPxd01",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92626-1",
            "evidence": [
                {
                    "id": "269400",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/269400"
                },
                {
                    "id": "0080612",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080612"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JWB6-1",
            "uniprot_ac": "A0A0G2JWB6",
            "uniprot_id": "A0A0G2JWB6_RAT",
            "refseq_ac": "NP_001258190",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "PE responsive protein c64",
                    "type": "synonym"
                },
                {
                    "name": "Peroxidasin",
                    "type": "synonym"
                },
                {
                    "name": "melanoma-associated antigen MG50",
                    "type": "synonym"
                },
                {
                    "name": "peroxidasin homolog precursor",
                    "type": "synonym"
                },
                {
                    "name": "peroxidasin homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pxdn",
                    "type": "recommended"
                },
                {
                    "name": "Perc64",
                    "type": "synonym"
                },
                {
                    "name": "Pxdn",
                    "type": "synonym"
                },
                {
                    "name": "Vpo1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JWB6-1",
            "evidence": [
                {
                    "id": "0080612",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080612"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VZZ4-1",
            "uniprot_ac": "Q9VZZ4",
            "uniprot_id": "PXDN_DROME",
            "refseq_ac": "NP_523891",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxidasin",
                    "type": "recommended"
                },
                {
                    "name": "1.11.2.-",
                    "type": "synonym"
                },
                {
                    "name": "CG12002-PA",
                    "type": "synonym"
                },
                {
                    "name": "Pxn-PA",
                    "type": "synonym"
                },
                {
                    "name": "peroxidasin, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "peroxidasin",
                    "type": "synonym"
                },
                {
                    "name": "peroxydasin",
                    "type": "synonym"
                },
                {
                    "name": "protein X",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pxn",
                    "type": "recommended"
                },
                {
                    "name": "CG12002",
                    "type": "synonym"
                },
                {
                    "name": "CT1239",
                    "type": "synonym"
                },
                {
                    "name": "DmPxd-a",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12002",
                    "type": "synonym"
                },
                {
                    "name": "Dpxn",
                    "type": "synonym"
                },
                {
                    "name": "HPX4",
                    "type": "synonym"
                },
                {
                    "name": "Pxn",
                    "type": "synonym"
                },
                {
                    "name": "pxn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VZZ4-1",
            "evidence": [
                {
                    "id": "0080612",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080612"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080612"
}