{
    "disease_id": "DOID:0060482",
    "recommended_name": {
        "id": "DOID:0060482",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060482",
        "name": "oculoauricular syndrome",
        "description": "A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule."
    },
    "synonyms": [
        {
            "id": "MONDO:0012802",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012802",
            "name": "oculoauricular syndrome",
            "description": "Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia)."
        },
        {
            "id": "MONDO:0012802",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012802",
            "name": "oculoauricular syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012802",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012802",
            "name": "OCACS",
            "description": ""
        },
        {
            "id": "MIM:612109",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612109",
            "name": "Oculoauricular syndrome",
            "description": "Oculoauricular syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060482"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060482",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060482",
            "categories": []
        },
        {
            "id": "MONDO:0012802",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012802",
            "categories": []
        },
        {
            "id": "MIM:612109",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612109",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O70218-1",
            "uniprot_ac": "O70218",
            "uniprot_id": "HMX1_MOUSE",
            "refseq_ac": "NP_034575",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein HMX1",
                    "type": "recommended"
                },
                {
                    "name": "H6 homeo box 1",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein H6",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein H6",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein HMX1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein HMX1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hmx1",
                    "type": "recommended"
                },
                {
                    "name": "H6",
                    "type": "synonym"
                },
                {
                    "name": "Hmx1",
                    "type": "synonym"
                },
                {
                    "name": "Nkx5-3",
                    "type": "synonym"
                }
            ],
            "record_id": "O70218-1",
            "evidence": [
                {
                    "id": "0060482",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060482"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NP08-1",
            "uniprot_ac": "Q9NP08",
            "uniprot_id": "HMX1_HUMAN",
            "refseq_ac": "NP_001293071",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein HMX1",
                    "type": "recommended"
                },
                {
                    "name": "H6 homeodomain protein",
                    "type": "synonym"
                },
                {
                    "name": "Homeobox protein H6",
                    "type": "synonym"
                },
                {
                    "name": "NK5 homeobox 3",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein H6",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein HMX1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein HMX1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HMX1",
                    "type": "recommended"
                },
                {
                    "name": "H6",
                    "type": "synonym"
                },
                {
                    "name": "HMX1",
                    "type": "synonym"
                },
                {
                    "name": "NKX5-3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NP08-1",
            "evidence": [
                {
                    "id": "612109",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612109"
                },
                {
                    "id": "0060482",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060482"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZBP8-1",
            "uniprot_ac": "D3ZBP8",
            "uniprot_id": "D3ZBP8_RAT",
            "refseq_ac": "NP_001101833",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "H6 family homeobox 1",
                    "type": "synonym"
                },
                {
                    "name": "H6 homeo box 1",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein HMX1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hmx1",
                    "type": "recommended"
                },
                {
                    "name": "Hmx1",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZBP8-1",
            "evidence": [
                {
                    "id": "0060482",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060482"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VEI9-1",
            "uniprot_ac": "Q9VEI9",
            "uniprot_id": "HMX_DROME",
            "refseq_ac": "NP_001287376",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Hmx",
                    "type": "recommended"
                },
                {
                    "name": "CG43748-PE",
                    "type": "synonym"
                },
                {
                    "name": "DHmx",
                    "type": "synonym"
                },
                {
                    "name": "H6-like-homeobox, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "Hmx-PE",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hmx",
                    "type": "recommended"
                },
                {
                    "name": "CG18139",
                    "type": "synonym"
                },
                {
                    "name": "CG34419",
                    "type": "synonym"
                },
                {
                    "name": "CG43748",
                    "type": "synonym"
                },
                {
                    "name": "CG5829",
                    "type": "synonym"
                },
                {
                    "name": "CG5832",
                    "type": "synonym"
                },
                {
                    "name": "DHmx",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG43748",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG43748",
                    "type": "synonym"
                },
                {
                    "name": "Hmx",
                    "type": "synonym"
                },
                {
                    "name": "hmx",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VEI9-1",
            "evidence": [
                {
                    "id": "0060482",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060482"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060482"
}