{
    "disease_id": "DOID:0111404",
    "recommended_name": {
        "id": "DOID:0111404",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111404",
        "name": "Jalili syndrome",
        "description": "A syndrome characterized by amelogenesis imperfecta and cone-rod retinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CNNM4 on chromosome 2q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111404",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111404",
            "name": "Cone rod dystrophy-amelogenesis imperfecta syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111404",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111404",
            "name": "cone-rod dystrophy and amelogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0009007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009007",
            "name": "Jalili syndrome",
            "description": "Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD)."
        },
        {
            "id": "MONDO:0009007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009007",
            "name": "Jalili syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009007",
            "name": "cone rod dystrophy-amelogenesis imperfecta syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009007",
            "name": "cone-rod dystrophy amelogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0009007",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009007",
            "name": "cone-rod dystrophy with amelogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MIM:217080",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/217080",
            "name": "Jalili syndrome",
            "description": "Jalili syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111404"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111404",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111404",
            "categories": []
        },
        {
            "id": "MONDO:0009007",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009007",
            "categories": []
        },
        {
            "id": "MIM:217080",
            "database": "MIM",
            "url": "https://www.omim.org/entry/217080",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q69ZF7-1",
            "uniprot_ac": "Q69ZF7",
            "uniprot_id": "CNNM4_MOUSE",
            "refseq_ac": "NP_291048",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metal transporter CNNM4",
                    "type": "recommended"
                },
                {
                    "name": "Ancient conserved domain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Cyclin-M4",
                    "type": "synonym"
                },
                {
                    "name": "ancient conserved domain protein 4",
                    "type": "synonym"
                },
                {
                    "name": "ancient conserved domain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "mACDP4",
                    "type": "synonym"
                },
                {
                    "name": "metal transporter CNNM4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "metal transporter CNNM4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cnnm4",
                    "type": "recommended"
                },
                {
                    "name": "5430430O18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Acdp4",
                    "type": "synonym"
                },
                {
                    "name": "Cnnm4",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1592",
                    "type": "synonym"
                }
            ],
            "record_id": "Q69ZF7-1",
            "evidence": [
                {
                    "id": "0111404",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111404"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P4Q7-1",
            "uniprot_ac": "Q6P4Q7",
            "uniprot_id": "CNNM4_HUMAN",
            "refseq_ac": "NP_064569",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metal transporter CNNM4",
                    "type": "recommended"
                },
                {
                    "name": "Ancient conserved domain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Cyclin-M4",
                    "type": "synonym"
                },
                {
                    "name": "ancient conserved domain protein 4",
                    "type": "synonym"
                },
                {
                    "name": "ancient conserved domain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-M4",
                    "type": "synonym"
                },
                {
                    "name": "metal transporter CNNM4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "metal transporter CNNM4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CNNM4",
                    "type": "recommended"
                },
                {
                    "name": "ACDP4",
                    "type": "synonym"
                },
                {
                    "name": "CNNM4",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1592",
                    "type": "synonym"
                },
                {
                    "name": "SLC70A4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P4Q7-1",
            "evidence": [
                {
                    "id": "217080",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/217080"
                },
                {
                    "id": "0111404",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111404"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12296-1",
            "uniprot_ac": "Q12296",
            "uniprot_id": "MAM3_YEAST",
            "refseq_ac": "NP_014581",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein MAM3",
                    "type": "recommended"
                },
                {
                    "name": "Mam3p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAM3",
                    "type": "recommended"
                },
                {
                    "name": "MAM3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12296-1",
            "evidence": [
                {
                    "id": "0111404",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111404"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0C588-1",
            "uniprot_ac": "P0C588",
            "uniprot_id": "CNNM4_RAT",
            "refseq_ac": "NP_001257979",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metal transporter CNNM4",
                    "type": "recommended"
                },
                {
                    "name": "Ancient conserved domain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Cyclin-M4",
                    "type": "synonym"
                },
                {
                    "name": "ancient conserved domain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-M4",
                    "type": "synonym"
                },
                {
                    "name": "metal transporter CNNM4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "metal transporter CNNM4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cnnm4",
                    "type": "recommended"
                },
                {
                    "name": "Acdp4",
                    "type": "synonym"
                },
                {
                    "name": "Cnnm4",
                    "type": "synonym"
                }
            ],
            "record_id": "P0C588-1",
            "evidence": [
                {
                    "id": "0111404",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111404"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B7P9G0-1",
            "uniprot_ac": "A0A0B7P9G0",
            "uniprot_id": "UEX_DROME",
            "refseq_ac": "NP_001104390",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Unextended protein",
                    "type": "recommended"
                },
                {
                    "name": "CG42595-PF",
                    "type": "synonym"
                },
                {
                    "name": "Putative metal transporter uex",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) IR3",
                    "type": "synonym"
                },
                {
                    "name": "uex-PF",
                    "type": "synonym"
                },
                {
                    "name": "unextended, isoform F",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "uex",
                    "type": "recommended"
                },
                {
                    "name": "41Ad",
                    "type": "synonym"
                },
                {
                    "name": "CG40084",
                    "type": "synonym"
                },
                {
                    "name": "CG42595",
                    "type": "synonym"
                },
                {
                    "name": "CR41594",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42595",
                    "type": "synonym"
                },
                {
                    "name": "EMS45-73",
                    "type": "synonym"
                },
                {
                    "name": "GroupIII",
                    "type": "synonym"
                },
                {
                    "name": "IR3",
                    "type": "synonym"
                },
                {
                    "name": "l(2)41Ad",
                    "type": "synonym"
                },
                {
                    "name": "l(2)EMS34-7",
                    "type": "synonym"
                },
                {
                    "name": "l(2)IR3",
                    "type": "synonym"
                },
                {
                    "name": "l(2R)A'",
                    "type": "synonym"
                },
                {
                    "name": "l(2R)EMS45-73",
                    "type": "synonym"
                },
                {
                    "name": "l(2Rh)IR3",
                    "type": "synonym"
                },
                {
                    "name": "uex",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B7P9G0-1",
            "evidence": [
                {
                    "id": "0111404",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111404"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111404"
}