{
    "disease_id": "DOID:0111859",
    "recommended_name": {
        "id": "DOID:0111859",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111859",
        "name": "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis",
        "description": "A syndrome characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis that has_material_basis_in hemizygous mutation in the AMMECR1 gene on chromosome Xq23."
    },
    "synonyms": [
        {
            "id": "DOID:0111859",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111859",
            "name": "MFHIEN",
            "description": ""
        },
        {
            "id": "MONDO:0010516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010516",
            "name": "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis",
            "description": ""
        },
        {
            "id": "MONDO:0010516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010516",
            "name": "MFHIEN",
            "description": ""
        },
        {
            "id": "MONDO:0010516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010516",
            "name": "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis",
            "description": ""
        },
        {
            "id": "MONDO:0010516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010516",
            "name": "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010516",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010516",
            "name": "midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis; MFHIEN",
            "description": ""
        },
        {
            "id": "MIM:300990",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300990",
            "name": "Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis",
            "description": "Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111859"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111859",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111859",
            "categories": []
        },
        {
            "id": "MONDO:0010516",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010516",
            "categories": []
        },
        {
            "id": "MIM:300990",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300990",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9JHT5-1",
            "uniprot_ac": "Q9JHT5",
            "uniprot_id": "AMMR1_MOUSE",
            "refseq_ac": "NP_062369",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear protein AMMECR1",
                    "type": "recommended"
                },
                {
                    "name": "AMME syndrome candidate gene 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "nuclear protein AMMECR1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ammecr1",
                    "type": "recommended"
                },
                {
                    "name": "6230420G18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ammecr1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JHT5-1",
            "evidence": [
                {
                    "id": "0111859",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111859"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y4X0-1",
            "uniprot_ac": "Q9Y4X0",
            "uniprot_id": "AMMR1_HUMAN",
            "refseq_ac": "NP_001020751",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear protein AMMECR1",
                    "type": "recommended"
                },
                {
                    "name": "AMME syndrome candidate gene 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "nuclear protein AMMECR1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "nuclear protein AMMECR1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AMMECR1",
                    "type": "recommended"
                },
                {
                    "name": "AMMECR1",
                    "type": "synonym"
                },
                {
                    "name": "AMMERC1",
                    "type": "synonym"
                },
                {
                    "name": "MFHIEN",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y4X0-1",
            "evidence": [
                {
                    "id": "300990",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300990"
                },
                {
                    "id": "0111859",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111859"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12012-1",
            "uniprot_ac": "Q12012",
            "uniprot_id": "YO289_YEAST",
            "refseq_ac": "NP_014932",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein YOR289W",
                    "type": "recommended"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [],
            "record_id": "Q12012-1",
            "evidence": [
                {
                    "id": "0111859",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111859"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZBY1-1",
            "uniprot_ac": "D3ZBY1",
            "uniprot_id": "D3ZBY1_RAT",
            "refseq_ac": "NP_001414609",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "AMMECR nuclear protein 1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear protein AMMECR1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ammecr1",
                    "type": "recommended"
                },
                {
                    "name": "Ammecr1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1561004",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZBY1-1",
            "evidence": [
                {
                    "id": "0111859",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111859"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VCF0-1",
            "uniprot_ac": "Q9VCF0",
            "uniprot_id": "Y5902_DROME",
            "refseq_ac": "NP_001163705",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein CG5902",
                    "type": "recommended"
                },
                {
                    "name": "CG5902-PC",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "anon-WO0118547.372",
                    "type": "recommended"
                },
                {
                    "name": "CG5902",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5902",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5902",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.372",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VCF0-1",
            "evidence": [
                {
                    "id": "0111859",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111859"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111859"
}