{
    "disease_id": "DOID:0060972",
    "recommended_name": {
        "id": "DOID:0060972",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060972",
        "name": "renal hypomagnesemia 7, with or without dilated cardiomyopathy",
        "description": "A hypomagnesemia characterized by renal salt wasting resulting in hypomagnesemia with secondary effects such as hypokalemia or hypocalcemia that has_material_basis_in heterozygous mutation in the RRAGD gene on chromosome 6q15."
    },
    "synonyms": [
        {
            "id": "MONDO:0859328",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859328",
            "name": "hypomagnesemia 7, renal, with or without dilated cardiomyopathy",
            "description": ""
        },
        {
            "id": "MIM:620152",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620152",
            "name": "Hypomagnesemia 7, renal, with or without dilated cardiomyopathy",
            "description": "Hypomagnesemia 7, renal, with or without dilated cardiomyopathy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060972"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060972",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060972",
            "categories": []
        },
        {
            "id": "MONDO:0859328",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859328",
            "categories": []
        },
        {
            "id": "MIM:620152",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620152",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QIB5-1",
            "uniprot_ac": "F1QIB5",
            "uniprot_id": "F1QIB5_DANRE",
            "refseq_ac": "NP_001092894",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related GTP-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "ras-related GTP-binding protein D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rragd",
                    "type": "recommended"
                },
                {
                    "name": "rragd",
                    "type": "synonym"
                },
                {
                    "name": "zgc:162165",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QIB5-1",
            "evidence": [
                {
                    "id": "0060972",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060972"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TT45-1",
            "uniprot_ac": "Q7TT45",
            "uniprot_id": "RRAGD_MOUSE",
            "refseq_ac": "NP_081767",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related GTP-binding protein D",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "Rag D",
                    "type": "synonym"
                },
                {
                    "name": "RagD",
                    "type": "synonym"
                },
                {
                    "name": "rag D",
                    "type": "synonym"
                },
                {
                    "name": "ragD",
                    "type": "synonym"
                },
                {
                    "name": "ras-related GTP-binding protein D isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ras-related GTP-binding protein D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rragd",
                    "type": "recommended"
                },
                {
                    "name": "5730543C08Rik",
                    "type": "synonym"
                },
                {
                    "name": "C030003H22Rik",
                    "type": "synonym"
                },
                {
                    "name": "D4Ertd174e",
                    "type": "synonym"
                },
                {
                    "name": "Ragd",
                    "type": "synonym"
                },
                {
                    "name": "Rragd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TT45-1",
            "evidence": [
                {
                    "id": "0060972",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060972"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NQL2-1",
            "uniprot_ac": "Q9NQL2",
            "uniprot_id": "RRAGD_HUMAN",
            "refseq_ac": "NP_067067",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related GTP-binding protein D",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "Rag D protein",
                    "type": "synonym"
                },
                {
                    "name": "Rag D",
                    "type": "synonym"
                },
                {
                    "name": "RagD",
                    "type": "synonym"
                },
                {
                    "name": "ras-related GTP-binding protein D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RRAGD",
                    "type": "recommended"
                },
                {
                    "name": "HOMG7",
                    "type": "synonym"
                },
                {
                    "name": "RAGD",
                    "type": "synonym"
                },
                {
                    "name": "RRAGD",
                    "type": "synonym"
                },
                {
                    "name": "bA11D8.2.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NQL2-1",
            "evidence": [
                {
                    "id": "620152",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620152"
                },
                {
                    "id": "0060972",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060972"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53290-1",
            "uniprot_ac": "P53290",
            "uniprot_id": "RAGCD_YEAST",
            "refseq_ac": "NP_011679",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "GTP-binding protein GTR2",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "Gtr2p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GTR2",
                    "type": "recommended"
                },
                {
                    "name": "GTR2",
                    "type": "synonym"
                }
            ],
            "record_id": "P53290-1",
            "evidence": [
                {
                    "id": "0060972",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060972"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B2RZ38-1",
            "uniprot_ac": "B2RZ38",
            "uniprot_id": "B2RZ38_RAT",
            "refseq_ac": "NP_001100111",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ras-related GTP-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "ras-related GTP-binding protein D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rragd",
                    "type": "recommended"
                },
                {
                    "name": "Rragd",
                    "type": "synonym"
                }
            ],
            "record_id": "B2RZ38-1",
            "evidence": [
                {
                    "id": "0060972",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060972"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060972"
}