{
    "disease_id": "DOID:0060884",
    "recommended_name": {
        "id": "DOID:0060884",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060884",
        "name": "renal hypomagnesemia 6",
        "description": "A hypomagnesemia characterized by autosomal dominant inheritance of severely lowered serum magnesium levels without other electrolyte disturbances or abnormalities in urinary magnesium excretion that has_material_basis_in heterozygous mutation in the CNNM2 gene on chromosome 10q24."
    },
    "synonyms": [
        {
            "id": "DOID:0060884",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060884",
            "name": "HOMG6",
            "description": ""
        },
        {
            "id": "MONDO:0013480",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013480",
            "name": "renal hypomagnesemia 6",
            "description": ""
        },
        {
            "id": "MONDO:0013480",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013480",
            "name": "HOMG6",
            "description": ""
        },
        {
            "id": "MONDO:0013480",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013480",
            "name": "renal hypomagnesemia type 6",
            "description": ""
        },
        {
            "id": "MONDO:0013480",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013480",
            "name": "hypomagnesemia 6, renal",
            "description": ""
        },
        {
            "id": "MONDO:0013480",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013480",
            "name": "renal hypomagnesemia-6",
            "description": ""
        },
        {
            "id": "MIM:613882",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613882",
            "name": "Hypomagnesemia 6",
            "description": "Hypomagnesemia 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060884"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060884",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060884",
            "categories": []
        },
        {
            "id": "MONDO:0013480",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013480",
            "categories": []
        },
        {
            "id": "MIM:613882",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613882",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AJ29-1",
            "uniprot_ac": "A0A8M3AJ29",
            "uniprot_id": "A0A8M3AJ29_DANRE",
            "refseq_ac": "XP_009290541",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metal transporter",
                    "type": "recommended"
                },
                {
                    "name": "metal transporter CNNM2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cnnm2b",
                    "type": "recommended"
                },
                {
                    "name": "cnnm2b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AJ29-1",
            "evidence": [
                {
                    "id": "0060884",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060884"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3TWN3-1",
            "uniprot_ac": "Q3TWN3",
            "uniprot_id": "CNNM2_MOUSE",
            "refseq_ac": "NP_001095941",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metal transporter CNNM2",
                    "type": "recommended"
                },
                {
                    "name": "Ancient conserved domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Cyclin-M2",
                    "type": "synonym"
                },
                {
                    "name": "ancient conserved domain protein 2",
                    "type": "synonym"
                },
                {
                    "name": "ancient conserved domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "mACDP2",
                    "type": "synonym"
                },
                {
                    "name": "metal transporter CNNM2 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "metal transporter CNNM2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cnnm2",
                    "type": "recommended"
                },
                {
                    "name": "Acdp2",
                    "type": "synonym"
                },
                {
                    "name": "Clp2",
                    "type": "synonym"
                },
                {
                    "name": "Cnnm2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3TWN3-1",
            "evidence": [
                {
                    "id": "0060884",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060884"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H8M5-1",
            "uniprot_ac": "Q9H8M5",
            "uniprot_id": "CNNM2_HUMAN",
            "refseq_ac": "NP_060119",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metal transporter CNNM2",
                    "type": "recommended"
                },
                {
                    "name": "Ancient conserved domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Cyclin-M2",
                    "type": "synonym"
                },
                {
                    "name": "ancient conserved domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "cyclin M2",
                    "type": "synonym"
                },
                {
                    "name": "metal transporter CNNM2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "metal transporter CNNM2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CNNM2",
                    "type": "recommended"
                },
                {
                    "name": "ACDP2",
                    "type": "synonym"
                },
                {
                    "name": "CNNM2",
                    "type": "synonym"
                },
                {
                    "name": "HOMG6",
                    "type": "synonym"
                },
                {
                    "name": "HOMGSMR",
                    "type": "synonym"
                },
                {
                    "name": "SLC70A2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H8M5-1",
            "evidence": [
                {
                    "id": "613882",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613882"
                },
                {
                    "id": "0060884",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060884"
                }
            ]
        },
        {
            "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": "0060884",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060884"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5U2P1-1",
            "uniprot_ac": "Q5U2P1",
            "uniprot_id": "CNNM2_RAT",
            "refseq_ac": "NP_001011942",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metal transporter CNNM2",
                    "type": "recommended"
                },
                {
                    "name": "Ancient conserved domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Cyclin-M2",
                    "type": "synonym"
                },
                {
                    "name": "ancient conserved domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "cyclin-M2",
                    "type": "synonym"
                },
                {
                    "name": "metal transporter CNNM2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cnnm2",
                    "type": "recommended"
                },
                {
                    "name": "Acdp2",
                    "type": "synonym"
                },
                {
                    "name": "Cnnm2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5U2P1-1",
            "evidence": [
                {
                    "id": "0060884",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060884"
                }
            ]
        },
        {
            "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": "0060884",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060884"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060884"
}