{
    "disease_id": "DOID:0111688",
    "recommended_name": {
        "id": "DOID:0111688",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111688",
        "name": "Ayme-Gripp syndrome",
        "description": "A syndrome characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth that has_material_basis_in heterozygous mutation in MAF on chromosome 16q23.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111688",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111688",
            "name": "AYGRP",
            "description": ""
        },
        {
            "id": "DOID:0111688",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111688",
            "name": "cataracts, congenital, with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation",
            "description": ""
        },
        {
            "id": "MONDO:0010992",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010992",
            "name": "Ayme-Gripp syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010992",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010992",
            "name": "Ayme-Gripp syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010992",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010992",
            "name": "AYGRP",
            "description": ""
        },
        {
            "id": "MONDO:0010992",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010992",
            "name": "cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and mental retardation",
            "description": ""
        },
        {
            "id": "MIM:601088",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601088",
            "name": "Ayme-Gripp syndrome",
            "description": "Ayme-Gripp syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111688"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111688",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111688",
            "categories": []
        },
        {
            "id": "MONDO:0010992",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010992",
            "categories": []
        },
        {
            "id": "MIM:601088",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601088",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q98UK4-1",
            "uniprot_ac": "Q98UK4",
            "uniprot_id": "MAF_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor Maf",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "maf",
                    "type": "recommended"
                }
            ],
            "record_id": "Q98UK4-1",
            "evidence": [
                {
                    "id": "0111688",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111688"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9P0X6-1",
            "uniprot_ac": "A0A8M9P0X6",
            "uniprot_id": "A0A8M9P0X6_DANRE",
            "refseq_ac": "XP_021323247",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor Maf",
                    "type": "recommended"
                },
                {
                    "name": "transcription factor Maf isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mafa",
                    "type": "recommended"
                },
                {
                    "name": "Z-cmaf",
                    "type": "synonym"
                },
                {
                    "name": "c-Maf",
                    "type": "synonym"
                },
                {
                    "name": "fl13d12",
                    "type": "synonym"
                },
                {
                    "name": "mafa",
                    "type": "synonym"
                },
                {
                    "name": "maf",
                    "type": "synonym"
                },
                {
                    "name": "wu:fl13d12",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9P0X6-1",
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                    "id": "0111688",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54843-1",
            "uniprot_ac": "P54843",
            "uniprot_id": "MAF_MOUSE",
            "refseq_ac": "NP_001020748",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor Maf",
                    "type": "recommended"
                },
                {
                    "name": "Proto-oncogene c-Maf",
                    "type": "synonym"
                },
                {
                    "name": "V-maf musculoaponeurotic fibrosarcoma oncogene homolog",
                    "type": "synonym"
                },
                {
                    "name": "avian musculoaponeurotic fibrosarcoma (v-maf) AS42 oncogene homolog",
                    "type": "synonym"
                },
                {
                    "name": "avian musculoaponeurotic fibrosarcoma oncogene homolog",
                    "type": "synonym"
                },
                {
                    "name": "c-Maf long form",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene c-maf",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor Maf isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor Maf",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Maf",
                    "type": "recommended"
                },
                {
                    "name": "2810401A20Rik",
                    "type": "synonym"
                },
                {
                    "name": "A230108G15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Maf2",
                    "type": "synonym"
                },
                {
                    "name": "Maf",
                    "type": "synonym"
                },
                {
                    "name": "c-maf",
                    "type": "synonym"
                }
            ],
            "record_id": "P54843-1",
            "evidence": [
                {
                    "id": "0111688",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111688"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75444-2",
            "uniprot_ac": "O75444",
            "uniprot_id": "MAF_HUMAN",
            "refseq_ac": "NP_001026974",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor Maf",
                    "type": "recommended"
                },
                {
                    "name": "Avian musculoaponeurotic fibrosarcoma (MAF) protooncogene",
                    "type": "synonym"
                },
                {
                    "name": "Proto-oncogene c-Maf",
                    "type": "synonym"
                },
                {
                    "name": "T lymphocyte c-maf long form",
                    "type": "synonym"
                },
                {
                    "name": "V-maf musculoaponeurotic fibrosarcoma oncogene homolog",
                    "type": "synonym"
                },
                {
                    "name": "c-maf proto-oncogene",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene c-Maf",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor Maf isoform b",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor Maf",
                    "type": "synonym"
                },
                {
                    "name": "v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAF",
                    "type": "recommended"
                },
                {
                    "name": "AYGRP",
                    "type": "synonym"
                },
                {
                    "name": "CCA4",
                    "type": "synonym"
                },
                {
                    "name": "CTRCT21",
                    "type": "synonym"
                },
                {
                    "name": "MAF",
                    "type": "synonym"
                },
                {
                    "name": "c-MAF",
                    "type": "synonym"
                }
            ],
            "record_id": "O75444-2",
            "evidence": [
                {
                    "id": "601088",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601088"
                },
                {
                    "id": "0111688",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111688"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54844-1",
            "uniprot_ac": "P54844",
            "uniprot_id": "MAF_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor Maf",
                    "type": "recommended"
                },
                {
                    "name": "Proto-oncogene c-Maf",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor Maf-2",
                    "type": "synonym"
                },
                {
                    "name": "V-maf musculoaponeurotic fibrosarcoma oncogene homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Maf",
                    "type": "recommended"
                },
                {
                    "name": "Maf2",
                    "type": "synonym"
                }
            ],
            "record_id": "P54844-1",
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                {
                    "id": "0111688",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111688"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PG80-1",
            "uniprot_ac": "M9PG80",
            "uniprot_id": "M9PG80_DROME",
            "refseq_ac": "NP_001260582",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG10034-PC",
                    "type": "synonym"
                },
                {
                    "name": "Traffic jam, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Traffic-Jam",
                    "type": "synonym"
                },
                {
                    "name": "female sterile(2)eo2",
                    "type": "synonym"
                },
                {
                    "name": "tj-PC",
                    "type": "synonym"
                },
                {
                    "name": "traffic jam, isoform C",
                    "type": "synonym"
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                {
                    "name": "traffic jam",
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            ],
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                    "name": "tj",
                    "type": "recommended"
                },
                {
                    "name": "CG10034",
                    "type": "synonym"
                },
                {
                    "name": "DM13",
                    "type": "synonym"
                },
                {
                    "name": "Dmaf",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10034",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10034",
                    "type": "synonym"
                },
                {
                    "name": "PL3",
                    "type": "synonym"
                },
                {
                    "name": "TJ",
                    "type": "synonym"
                },
                {
                    "name": "Tj",
                    "type": "synonym"
                },
                {
                    "name": "fs(2)eo-B",
                    "type": "synonym"
                },
                {
                    "name": "fs(2)eo2",
                    "type": "synonym"
                },
                {
                    "name": "fs(2)eoPL3",
                    "type": "synonym"
                },
                {
                    "name": "maf-L",
                    "type": "synonym"
                },
                {
                    "name": "maf1",
                    "type": "synonym"
                },
                {
                    "name": "tj",
                    "type": "synonym"
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            ],
            "record_id": "M9PG80-1",
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                    "id": "0111688",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111688"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111688"
}