{
    "disease_id": "DOID:0080613",
    "recommended_name": {
        "id": "DOID:0080613",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080613",
        "name": "anterior segment dysgenesis 8",
        "description": "An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the CPAMD8 gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0015017",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015017",
            "name": "anterior segment dysgenesis 8",
            "description": "Any anterior segment dysgenesis in which the cause of the disease is a mutation in the CPAMD8 gene."
        },
        {
            "id": "MONDO:0015017",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015017",
            "name": "ASGD8",
            "description": ""
        },
        {
            "id": "MONDO:0015017",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015017",
            "name": "CPAMD8 anterior segment dysgenesis",
            "description": ""
        },
        {
            "id": "MONDO:0015017",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015017",
            "name": "CPAMD8-related anterior segment dysgenesis",
            "description": ""
        },
        {
            "id": "MONDO:0015017",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015017",
            "name": "anterior segment dysgenesis 8",
            "description": ""
        },
        {
            "id": "MONDO:0015017",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015017",
            "name": "anterior segment dysgenesis caused by mutation in CPAMD8",
            "description": ""
        },
        {
            "id": "MONDO:0015017",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015017",
            "name": "anterior segment dysgenesis type 8",
            "description": ""
        },
        {
            "id": "MIM:617319",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617319",
            "name": "Anterior segment dysgenesis 8",
            "description": "Anterior segment dysgenesis 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080613"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080613",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080613",
            "categories": []
        },
        {
            "id": "MONDO:0015017",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015017",
            "categories": []
        },
        {
            "id": "MIM:617319",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617319",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1RP87-1",
            "uniprot_ac": "A0A8M1RP87",
            "uniprot_id": "A0A8M1RP87_DANRE",
            "refseq_ac": "XP_003201105",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cpamd8",
                    "type": "recommended"
                },
                {
                    "name": "cpamd8",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1RP87-1",
            "evidence": [
                {
                    "id": "0080613",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080613"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IZJ3-1",
            "uniprot_ac": "Q8IZJ3",
            "uniprot_id": "CPMD8_HUMAN",
            "refseq_ac": "NP_056507",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8",
                    "type": "recommended"
                },
                {
                    "name": "C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8 precursor",
                    "type": "synonym"
                },
                {
                    "name": "C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2 macroglobulin family protein VIP",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CPAMD8",
                    "type": "recommended"
                },
                {
                    "name": "ASGD8",
                    "type": "synonym"
                },
                {
                    "name": "CPAMD8",
                    "type": "synonym"
                },
                {
                    "name": "K-CAP",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1283",
                    "type": "synonym"
                },
                {
                    "name": "VIP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IZJ3-1",
            "evidence": [
                {
                    "id": "617319",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617319"
                },
                {
                    "id": "0080613",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080613"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14046-1",
            "uniprot_ac": "P14046",
            "uniprot_id": "A1I3_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-1-inhibitor 3",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-1-inhibitor 3 variant II",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-1-inhibitor III",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "A1i3",
                    "type": "recommended"
                },
                {
                    "name": "Mug5",
                    "type": "recommended"
                },
                {
                    "name": "Mug6",
                    "type": "recommended"
                },
                {
                    "name": "LOC297568",
                    "type": "synonym"
                }
            ],
            "record_id": "P14046-1",
            "evidence": [
                {
                    "id": "0080613",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080613"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080613"
}