{
    "disease_id": "DOID:0060883",
    "recommended_name": {
        "id": "DOID:0060883",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060883",
        "name": "intestinal hypomagnesemia 1",
        "description": "A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorption and kidney excretion and secondary hypocalcemia that has_material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21."
    },
    "synonyms": [
        {
            "id": "DOID:0060883",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060883",
            "name": "HOMG1",
            "description": ""
        },
        {
            "id": "DOID:0060883",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060883",
            "name": "hypomagnesemia caused by selective magnesium malabsorption",
            "description": ""
        },
        {
            "id": "DOID:0060883",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060883",
            "name": "hypomagnesemia intestinal type 1",
            "description": ""
        },
        {
            "id": "DOID:0060883",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060883",
            "name": "hypomagnesemic tetany",
            "description": ""
        },
        {
            "id": "DOID:0060883",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060883",
            "name": "primary hypomagnesemia with secondary hypocalcemia",
            "description": ""
        },
        {
            "id": "DOID:0060883",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060883",
            "name": "intestinal hypomagnesemia with secondary hypocalcemia",
            "description": ""
        },
        {
            "id": "MONDO:0011176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011176",
            "name": "intestinal hypomagnesemia 1",
            "description": "Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications."
        },
        {
            "id": "MONDO:0011176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011176",
            "name": "HOMG1",
            "description": ""
        },
        {
            "id": "MONDO:0011176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011176",
            "name": "HSH",
            "description": ""
        },
        {
            "id": "MONDO:0011176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011176",
            "name": "PHSH",
            "description": ""
        },
        {
            "id": "MONDO:0011176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011176",
            "name": "TRPM6 familial primary hypomagnesemia",
            "description": ""
        },
        {
            "id": "MONDO:0011176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011176",
            "name": "TRPM6 primary hypomagnesemia",
            "description": ""
        },
        {
            "id": "MONDO:0011176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011176",
            "name": "familial primary hypomagnesemia caused by mutation in TRPM6",
            "description": ""
        },
        {
            "id": "MONDO:0011176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011176",
            "name": "hypomagnesemia caused by selective magnesium malabsorption",
            "description": ""
        },
        {
            "id": "MONDO:0011176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011176",
            "name": "hypomagnesemia intestinal type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011176",
            "name": "hypomagnesemic tetany",
            "description": ""
        },
        {
            "id": "MONDO:0011176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011176",
            "name": "intestinal hypomagnesemia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011176",
            "name": "intestinal hypomagnesemia with secondary hypocalcemia",
            "description": ""
        },
        {
            "id": "MONDO:0011176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011176",
            "name": "primary hypomagnesemia caused by mutation in TRPM6",
            "description": ""
        },
        {
            "id": "MONDO:0011176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011176",
            "name": "primary hypomagnesemia with secondary hypocalcemia",
            "description": ""
        },
        {
            "id": "MONDO:0011176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011176",
            "name": "hypomagnesemia 1, intestinal",
            "description": ""
        },
        {
            "id": "MIM:602014",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602014",
            "name": "Hypomagnesemia 1",
            "description": "Hypomagnesemia 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060883"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060883",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060883",
            "categories": []
        },
        {
            "id": "MONDO:0011176",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011176",
            "categories": []
        },
        {
            "id": "MIM:602014",
            "database": "MIM",
            "url": "https://www.omim.org/entry/602014",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9Q2T2-1",
            "uniprot_ac": "A0A8M9Q2T2",
            "uniprot_id": "A0A8M9Q2T2_DANRE",
            "refseq_ac": "XP_021331654",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily M member 6 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trpm6",
                    "type": "recommended"
                },
                {
                    "name": "trpm6",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9Q2T2-1",
            "evidence": [
                {
                    "id": "0060883",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060883"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CIR4-1",
            "uniprot_ac": "Q8CIR4",
            "uniprot_id": "TRPM6_MOUSE",
            "refseq_ac": "NP_700466",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily M member 6",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Channel kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "Melastatin-related TRP cation channel 6",
                    "type": "synonym"
                },
                {
                    "name": "melastatin-related TRP cation channel 6",
                    "type": "synonym"
                },
                {
                    "name": "putative cation channel subfamily M member 6",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel 6/channel-kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily M member 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trpm6",
                    "type": "recommended"
                },
                {
                    "name": "CHAK2",
                    "type": "synonym"
                },
                {
                    "name": "TRPM6/CHAK2",
                    "type": "synonym"
                },
                {
                    "name": "Trpm6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CIR4-1",
            "evidence": [
                {
                    "id": "0060883",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060883"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BX84-1",
            "uniprot_ac": "Q9BX84",
            "uniprot_id": "TRPM6_HUMAN",
            "refseq_ac": "NP_001170781",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily M member 6",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Channel kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "Melastatin-related TRP cation channel 6",
                    "type": "synonym"
                },
                {
                    "name": "channel kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "melastatin-related TRP cation channel 6",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily M member 6 isoform b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRPM6",
                    "type": "recommended"
                },
                {
                    "name": "CHAK2",
                    "type": "synonym"
                },
                {
                    "name": "HMGX",
                    "type": "synonym"
                },
                {
                    "name": "HOMG1",
                    "type": "synonym"
                },
                {
                    "name": "HOMG",
                    "type": "synonym"
                },
                {
                    "name": "HSH",
                    "type": "synonym"
                },
                {
                    "name": "TRPM6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BX84-1",
            "evidence": [
                {
                    "id": "602014",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/602014"
                },
                {
                    "id": "0060883",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060883"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M7G0-1",
            "uniprot_ac": "F1M7G0",
            "uniprot_id": "F1M7G0_RAT",
            "refseq_ac": "NP_001419090",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily M member 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trpm6",
                    "type": "recommended"
                },
                {
                    "name": "Trpm6",
                    "type": "synonym"
                }
            ],
            "record_id": "F1M7G0-1",
            "evidence": [
                {
                    "id": "0060883",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060883"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8DYE2-1",
            "uniprot_ac": "A8DYE2",
            "uniprot_id": "TRPCG_DROME",
            "refseq_ac": "NP_001036548",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel trpm",
                    "type": "recommended"
                },
                {
                    "name": "CG44240-PB",
                    "type": "synonym"
                },
                {
                    "name": "Transient receptor potential cation channel, subfamily M ortholog",
                    "type": "synonym"
                },
                {
                    "name": "Trpm-PB",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel, subfamily M ortholog",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel, subfamily M, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential channel M",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Trpm",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GH04950",
                    "type": "synonym"
                },
                {
                    "name": "CG16805",
                    "type": "synonym"
                },
                {
                    "name": "CG30078",
                    "type": "synonym"
                },
                {
                    "name": "CG30079",
                    "type": "synonym"
                },
                {
                    "name": "CG34123",
                    "type": "synonym"
                },
                {
                    "name": "CG34187",
                    "type": "synonym"
                },
                {
                    "name": "CG44240",
                    "type": "synonym"
                },
                {
                    "name": "DmTRPM",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG44240",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG44240",
                    "type": "synonym"
                },
                {
                    "name": "TRPM",
                    "type": "synonym"
                },
                {
                    "name": "TrpM",
                    "type": "synonym"
                },
                {
                    "name": "Trpm",
                    "type": "synonym"
                },
                {
                    "name": "dTRPM",
                    "type": "synonym"
                },
                {
                    "name": "mdcds_11815",
                    "type": "synonym"
                },
                {
                    "name": "trpm",
                    "type": "synonym"
                }
            ],
            "record_id": "A8DYE2-1",
            "evidence": [
                {
                    "id": "0060883",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060883"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060883"
}