{
    "disease_id": "DOID:0060885",
    "recommended_name": {
        "id": "DOID:0060885",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060885",
        "name": "renal hypomagnesemia 2",
        "description": "A hypomagnesemia characterized by autosomal dominant inheritance of hypomagnesemia due to renal magnesium loss that has_material_basis_in heterozygous mutation in the FXYD2 gene on chromosome 11q23."
    },
    "synonyms": [
        {
            "id": "DOID:0060885",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060885",
            "name": "HOMG2",
            "description": ""
        },
        {
            "id": "DOID:0060885",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060885",
            "name": "autosomal dominant primary hypomagnesemia with hypocalciuria",
            "description": ""
        },
        {
            "id": "MONDO:0007937",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007937",
            "name": "renal hypomagnesemia 2",
            "description": "Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed."
        },
        {
            "id": "MONDO:0007937",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007937",
            "name": "FXYD2 familial primary hypomagnesemia",
            "description": ""
        },
        {
            "id": "MONDO:0007937",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007937",
            "name": "FXYD2 primary hypomagnesemia",
            "description": ""
        },
        {
            "id": "MONDO:0007937",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007937",
            "name": "HOMG2",
            "description": ""
        },
        {
            "id": "MONDO:0007937",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007937",
            "name": "familial primary hypomagnesemia caused by mutation in FXYD2",
            "description": ""
        },
        {
            "id": "MONDO:0007937",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007937",
            "name": "isolated autosomal dominant hypomagnesemia",
            "description": ""
        },
        {
            "id": "MONDO:0007937",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007937",
            "name": "isolated renal magnesium wasting",
            "description": ""
        },
        {
            "id": "MONDO:0007937",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007937",
            "name": "primary hypomagnesemia caused by mutation in FXYD2",
            "description": ""
        },
        {
            "id": "MONDO:0007937",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007937",
            "name": "renal hypomagnesemia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0007937",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007937",
            "name": "hypomagnesemia 2, renal",
            "description": ""
        },
        {
            "id": "MIM:154020",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/154020",
            "name": "Hypomagnesemia 2",
            "description": "Hypomagnesemia 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060885"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060885",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060885",
            "categories": []
        },
        {
            "id": "MONDO:0007937",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007937",
            "categories": []
        },
        {
            "id": "MIM:154020",
            "database": "MIM",
            "url": "https://www.omim.org/entry/154020",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q04646-1",
            "uniprot_ac": "Q04646",
            "uniprot_id": "ATNG_MOUSE",
            "refseq_ac": "NP_031529",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/potassium-transporting ATPase subunit gamma",
                    "type": "recommended"
                },
                {
                    "name": "ATPase, Na+/K+ transporting, gamma 1 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "FXYD domain-containing ion transport regulator 2",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/K(+) ATPase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "Sodium pump gamma chain",
                    "type": "synonym"
                },
                {
                    "name": "sodium pump gamma chain",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium-transporting ATPase gamma chain",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium-transporting ATPase subunit gamma isoform a",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium-transporting ATPase subunit gamma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fxyd2",
                    "type": "recommended"
                },
                {
                    "name": "Atp1c",
                    "type": "synonym"
                },
                {
                    "name": "Atp1g1",
                    "type": "synonym"
                },
                {
                    "name": "Fxyd2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04646-1",
            "evidence": [
                {
                    "id": "0060885",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060885"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54710-1",
            "uniprot_ac": "P54710",
            "uniprot_id": "ATNG_HUMAN",
            "refseq_ac": "NP_001671",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/potassium-transporting ATPase subunit gamma",
                    "type": "recommended"
                },
                {
                    "name": "ATPase, Na+/K+ transporting, gamma 1 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "FXYD domain-containing ion transport regulator 2",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/K(+) ATPase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "Sodium pump gamma chain",
                    "type": "synonym"
                },
                {
                    "name": "sodium pump gamma chain",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium-transporting ATPase subunit gamma isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FXYD2",
                    "type": "recommended"
                },
                {
                    "name": "ATP1C",
                    "type": "synonym"
                },
                {
                    "name": "ATP1G1",
                    "type": "synonym"
                },
                {
                    "name": "FXYD2",
                    "type": "synonym"
                },
                {
                    "name": "HOMG2",
                    "type": "synonym"
                }
            ],
            "record_id": "P54710-1",
            "evidence": [
                {
                    "id": "154020",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/154020"
                },
                {
                    "id": "0060885",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060885"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04679-1",
            "uniprot_ac": "Q04679",
            "uniprot_id": "ATNG_RAT",
            "refseq_ac": "NP_059045",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/potassium-transporting ATPase subunit gamma",
                    "type": "recommended"
                },
                {
                    "name": "ATPase, Na+/K+ transporting, gamma 1 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "FXTD domain-containing ion transport regulator 2",
                    "type": "synonym"
                },
                {
                    "name": "FXYD domain-containing ion transport regulator 2",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/K(+) ATPase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "Sodium pump gamma chain",
                    "type": "synonym"
                },
                {
                    "name": "gamma subunit of sodium potassium ATPase",
                    "type": "synonym"
                },
                {
                    "name": "sodium pump gamma chain",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium-transporting ATPase gamma chain",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium-transporting ATPase subunit gamma isoform b",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium-transporting ATPase subunit gamma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fxyd2",
                    "type": "recommended"
                },
                {
                    "name": "ATP1C",
                    "type": "synonym"
                },
                {
                    "name": "Atp1c",
                    "type": "synonym"
                },
                {
                    "name": "Atp1g1",
                    "type": "synonym"
                },
                {
                    "name": "Fxyd2",
                    "type": "synonym"
                },
                {
                    "name": "GNAKATP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04679-1",
            "evidence": [
                {
                    "id": "0060885",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060885"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9P232-1",
            "uniprot_ac": "Q9P232",
            "uniprot_id": "CNTN3_HUMAN",
            "refseq_ac": "NP_065923",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Contactin-3",
                    "type": "recommended"
                },
                {
                    "name": "BIG-1",
                    "type": "synonym"
                },
                {
                    "name": "Brain-derived immunoglobulin superfamily protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Plasmacytoma-associated neuronal glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "brain-derived immunoglobulin superfamily protein 1",
                    "type": "synonym"
                },
                {
                    "name": "contactin 3 (plasmacytoma associated)",
                    "type": "synonym"
                },
                {
                    "name": "contactin-3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "plasmacytoma-associated neuronal glycoprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CNTN3",
                    "type": "recommended"
                },
                {
                    "name": "BIG-1",
                    "type": "synonym"
                },
                {
                    "name": "CNTN3",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1496",
                    "type": "synonym"
                },
                {
                    "name": "PANG",
                    "type": "synonym"
                },
                {
                    "name": "PCS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9P232-1",
            "evidence": [
                {
                    "id": "0060885",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060885"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060885"
}