{
    "disease_id": "DOID:0080636",
    "recommended_name": {
        "id": "DOID:0080636",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080636",
        "name": "syndromic microphthalmia",
        "description": "A microphthalmia that occurs as part of a syndrome that affects other organs and tissues in the body."
    },
    "synonyms": [
        {
            "id": "MONDO:0010671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010671",
            "name": "microphthalmia, syndromic 1",
            "description": ""
        },
        {
            "id": "MONDO:0010671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010671",
            "name": "ANOP1, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0010671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010671",
            "name": "Lenz dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0010671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010671",
            "name": "Lenz microphthalmia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010671",
            "name": "MAA, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0010671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010671",
            "name": "MCOPS1",
            "description": ""
        },
        {
            "id": "MONDO:0010671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010671",
            "name": "MCOPS4",
            "description": ""
        },
        {
            "id": "MONDO:0010671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010671",
            "name": "MCOPS4, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0010671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010671",
            "name": "microphthalmia syndromic 4",
            "description": ""
        },
        {
            "id": "MONDO:0010671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010671",
            "name": "microphthalmia with ankyloblepharon and intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010671",
            "name": "microphthalmia with ankyloblepharon and mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010671",
            "name": "microphthalmia, syndromic 1",
            "description": ""
        },
        {
            "id": "MONDO:0010671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010671",
            "name": "microphthalmia, syndromic 4, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0010671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010671",
            "name": "microphthalmia, syndromic type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010671",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010671",
            "name": "syndromic microphthalmia type 4",
            "description": ""
        },
        {
            "id": "MIM:309800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/309800",
            "name": "Microphthalmia, syndromic, 1",
            "description": "Microphthalmia, syndromic, 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0060842",
            "label": "syndromic microphthalmia 16",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111799",
            "label": "syndromic microphthalmia 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111800",
            "label": "syndromic microphthalmia 12",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111801",
            "label": "syndromic microphthalmia 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111802",
            "label": "syndromic microphthalmia 14",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111804",
            "label": "syndromic microphthalmia 11",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111805",
            "label": "syndromic microphthalmia 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111806",
            "label": "syndromic microphthalmia 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111807",
            "label": "syndromic microphthalmia 9",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111809",
            "label": "syndromic microphthalmia 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111811",
            "label": "syndromic microphthalmia 13",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0111800",
        "DOID:0111807",
        "DOID:0111811",
        "DOID:0111799",
        "DOID:0111806",
        "DOID:0111801",
        "DOID:0080636",
        "DOID:0060842",
        "DOID:0111802",
        "DOID:0111805",
        "DOID:0111809",
        "DOID:0111804"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080636",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080636",
            "categories": []
        },
        {
            "id": "MONDO:0010671",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010671",
            "categories": []
        },
        {
            "id": "MIM:309800",
            "database": "MIM",
            "url": "https://www.omim.org/entry/309800",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P41227-1",
            "uniprot_ac": "P41227",
            "uniprot_id": "NAA10_HUMAN",
            "refseq_ac": "NP_001243048",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-alpha-acetyltransferase 10",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.255",
                    "type": "synonym"
                },
                {
                    "name": "ARD1 homolog A, N-acetyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "N-acetyltransferase ARD1, human homolog of",
                    "type": "synonym"
                },
                {
                    "name": "N-alpha-acetyltransferase 10 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "N-terminal acetyltransferase complex ARD1 subunit homolog A",
                    "type": "synonym"
                },
                {
                    "name": "NatA catalytic subunit Naa10",
                    "type": "synonym"
                },
                {
                    "name": "arrest defective protein 1",
                    "type": "synonym"
                },
                {
                    "name": "hARD1",
                    "type": "synonym"
                },
                {
                    "name": "microphthalmia or anophthalmia and associated anomalies",
                    "type": "synonym"
                },
                {
                    "name": "natA catalytic subunit Naa10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NAA10",
                    "type": "recommended"
                },
                {
                    "name": "ARD1A",
                    "type": "synonym"
                },
                {
                    "name": "ARD1P",
                    "type": "synonym"
                },
                {
                    "name": "ARD1",
                    "type": "synonym"
                },
                {
                    "name": "DXS707",
                    "type": "synonym"
                },
                {
                    "name": "LZMS",
                    "type": "synonym"
                },
                {
                    "name": "MAA",
                    "type": "synonym"
                },
                {
                    "name": "MCOPS1",
                    "type": "synonym"
                },
                {
                    "name": "NAA10",
                    "type": "synonym"
                },
                {
                    "name": "NATD",
                    "type": "synonym"
                },
                {
                    "name": "OGDNS",
                    "type": "synonym"
                },
                {
                    "name": "TE2",
                    "type": "synonym"
                },
                {
                    "name": "hARD1",
                    "type": "synonym"
                }
            ],
            "record_id": "P41227-1",
            "evidence": [
                {
                    "id": "309800",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/309800"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080636"
}