{
    "disease_id": "DOID:0111860",
    "recommended_name": {
        "id": "DOID:0111860",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111860",
        "name": "AMME complex",
        "description": "A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111860",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111860",
            "name": "Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111860",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111860",
            "name": "AMME syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111860",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111860",
            "name": "ATS-MR",
            "description": ""
        },
        {
            "id": "DOID:0111860",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111860",
            "name": "chromosome Xq22.3 telomeric deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010263",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010263",
            "name": "Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010263",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010263",
            "name": "AMME complex",
            "description": ""
        },
        {
            "id": "MONDO:0010263",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010263",
            "name": "AMME syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010263",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010263",
            "name": "ATS-MR",
            "description": ""
        },
        {
            "id": "MONDO:0010263",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010263",
            "name": "Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis",
            "description": ""
        },
        {
            "id": "MIM:300194",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300194",
            "name": "AMME complex",
            "description": "AMME complex"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111860"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111860",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111860",
            "categories": []
        },
        {
            "id": "MONDO:0010263",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010263",
            "categories": []
        },
        {
            "id": "MIM:300194",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300194",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9UJ90-1",
            "uniprot_ac": "Q9UJ90",
            "uniprot_id": "KCNE5_HUMAN",
            "refseq_ac": "NP_036414",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel subfamily E regulatory beta subunit 5",
                    "type": "recommended"
                },
                {
                    "name": "AMME syndrome candidate gene 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "AMMECR2 protein",
                    "type": "synonym"
                },
                {
                    "name": "KCNE1-like",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel subunit beta MiRP4",
                    "type": "synonym"
                },
                {
                    "name": "Potassium voltage-gated channel subfamily E member 1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "cardiac voltage-gated potassium channel accessory subunit 5",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel subunit beta MiRP4",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily E member 1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily E regulatory beta subunit 5",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel, Isk-related family, member 1-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNE5",
                    "type": "recommended"
                },
                {
                    "name": "AMMECR2",
                    "type": "synonym"
                },
                {
                    "name": "KCNE1L",
                    "type": "synonym"
                },
                {
                    "name": "KCNE5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UJ90-1",
            "evidence": [
                {
                    "id": "300194",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300194"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60488-1",
            "uniprot_ac": "O60488",
            "uniprot_id": "ACSL4_HUMAN",
            "refseq_ac": "NP_001305438",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Long-chain-fatty-acid--CoA ligase 4",
                    "type": "recommended"
                },
                {
                    "name": "6.2.1.15",
                    "type": "synonym"
                },
                {
                    "name": "6.2.1.3",
                    "type": "synonym"
                },
                {
                    "name": "Arachidonate--CoA ligase",
                    "type": "synonym"
                },
                {
                    "name": "LACS 4",
                    "type": "synonym"
                },
                {
                    "name": "Long-chain acyl-CoA synthetase 4",
                    "type": "synonym"
                },
                {
                    "name": "acyl-CoA synthetase 4",
                    "type": "synonym"
                },
                {
                    "name": "arachidonate--CoA ligase",
                    "type": "synonym"
                },
                {
                    "name": "fatty-acid-Coenzyme A ligase, long-chain 4",
                    "type": "synonym"
                },
                {
                    "name": "lignoceroyl-CoA synthase",
                    "type": "synonym"
                },
                {
                    "name": "long-chain acyl-CoA synthetase 4",
                    "type": "synonym"
                },
                {
                    "name": "long-chain fatty-acid-Coenzyme A ligase 4",
                    "type": "synonym"
                },
                {
                    "name": "long-chain-fatty-acid--CoA ligase 4 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "long-chain-fatty-acid--CoA ligase 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ACSL4",
                    "type": "recommended"
                },
                {
                    "name": "ACS4",
                    "type": "synonym"
                },
                {
                    "name": "ACSL4",
                    "type": "synonym"
                },
                {
                    "name": "FACL4",
                    "type": "synonym"
                },
                {
                    "name": "LACS4",
                    "type": "synonym"
                },
                {
                    "name": "MRX63",
                    "type": "synonym"
                },
                {
                    "name": "MRX68",
                    "type": "synonym"
                },
                {
                    "name": "XLID63",
                    "type": "synonym"
                }
            ],
            "record_id": "O60488-1",
            "evidence": [
                {
                    "id": "300194",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300194"
                }
            ]
        },
        {
            "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": "300194",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300194"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111860"
}