{
    "disease_id": "DOID:0060882",
    "recommended_name": {
        "id": "DOID:0060882",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060882",
        "name": "renal hypomagnesemia 4",
        "description": "A hypomagnesemia characterized by isolated hypomagnesemia due to renal loss with normal serum calcium levels and urinary calcium excretion that has_material_basis_in homozygous mutation in the EGF gene on chromosome 4q25."
    },
    "synonyms": [
        {
            "id": "DOID:0060882",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060882",
            "name": "HOMG4",
            "description": ""
        },
        {
            "id": "MONDO:0012717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012717",
            "name": "renal hypomagnesemia 4",
            "description": "Any primary hypomagnesemia in which the cause of the disease is a mutation in the EGF gene."
        },
        {
            "id": "MONDO:0012717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012717",
            "name": "EGF familial primary hypomagnesemia",
            "description": ""
        },
        {
            "id": "MONDO:0012717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012717",
            "name": "EGF primary hypomagnesemia",
            "description": ""
        },
        {
            "id": "MONDO:0012717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012717",
            "name": "HOMG4",
            "description": ""
        },
        {
            "id": "MONDO:0012717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012717",
            "name": "familial primary hypomagnesemia caused by mutation in EGF",
            "description": ""
        },
        {
            "id": "MONDO:0012717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012717",
            "name": "primary hypomagnesemia caused by mutation in EGF",
            "description": ""
        },
        {
            "id": "MONDO:0012717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012717",
            "name": "renal hypomagnesemia type 4",
            "description": ""
        },
        {
            "id": "MONDO:0012717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012717",
            "name": "hypomagnesemia 4, renal",
            "description": ""
        },
        {
            "id": "MIM:611718",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611718",
            "name": "Hypomagnesemia 4",
            "description": "Hypomagnesemia 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060882"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060882",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060882",
            "categories": []
        },
        {
            "id": "MONDO:0012717",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012717",
            "categories": []
        },
        {
            "id": "MIM:611718",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611718",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB13A7B8-1",
            "uniprot_ac": "A0AB13A7B8",
            "uniprot_id": "A0AB13A7B8_DANRE",
            "refseq_ac": "NP_001352456",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pro-epidermal growth factor",
                    "type": "recommended"
                },
                {
                    "name": "pro-epidermal growth factor isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "egf",
                    "type": "recommended"
                },
                {
                    "name": "egf",
                    "type": "synonym"
                },
                {
                    "name": "sb:eu639",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB13A7B8-1",
            "evidence": [
                {
                    "id": "0060882",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060882"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01132-1",
            "uniprot_ac": "P01132",
            "uniprot_id": "EGF_MOUSE",
            "refseq_ac": "NP_034243",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pro-epidermal growth factor",
                    "type": "recommended"
                },
                {
                    "name": "EGF",
                    "type": "synonym"
                },
                {
                    "name": "Pro-epidermal growth factor precursor (EGF)",
                    "type": "synonym"
                },
                {
                    "name": "pro-epidermal growth factor isoform 1 preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Egf",
                    "type": "recommended"
                },
                {
                    "name": "Egf",
                    "type": "synonym"
                }
            ],
            "record_id": "P01132-1",
            "evidence": [
                {
                    "id": "0060882",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060882"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01133-1",
            "uniprot_ac": "P01133",
            "uniprot_id": "EGF_HUMAN",
            "refseq_ac": "NP_001171601",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pro-epidermal growth factor",
                    "type": "recommended"
                },
                {
                    "name": "EGF",
                    "type": "synonym"
                },
                {
                    "name": "Urogastrone",
                    "type": "synonym"
                },
                {
                    "name": "beta-urogastrone",
                    "type": "synonym"
                },
                {
                    "name": "pro-epidermal growth factor isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "pro-epidermal growth factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EGF",
                    "type": "recommended"
                },
                {
                    "name": "EGF",
                    "type": "synonym"
                },
                {
                    "name": "HOMG4",
                    "type": "synonym"
                },
                {
                    "name": "URG",
                    "type": "synonym"
                }
            ],
            "record_id": "P01133-1",
            "evidence": [
                {
                    "id": "611718",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611718"
                },
                {
                    "id": "0060882",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060882"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07522-1",
            "uniprot_ac": "P07522",
            "uniprot_id": "EGF_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pro-epidermal growth factor",
                    "type": "recommended"
                },
                {
                    "name": "EGF",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Egf",
                    "type": "recommended"
                },
                {
                    "name": "LOC100910178",
                    "type": "synonym"
                }
            ],
            "record_id": "P07522-1",
            "evidence": [
                {
                    "id": "0060882",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060882"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6AYX5-1",
            "uniprot_ac": "Q6AYX5",
            "uniprot_id": "ODFP2_RAT",
            "refseq_ac": "NP_001138477",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Outer dense fiber protein 2",
                    "type": "recommended"
                },
                {
                    "name": "84 kDa outer dense fiber protein",
                    "type": "synonym"
                },
                {
                    "name": "Cenexin",
                    "type": "synonym"
                },
                {
                    "name": "Outer dense fiber of sperm tails protein 2",
                    "type": "synonym"
                },
                {
                    "name": "cenexin",
                    "type": "synonym"
                },
                {
                    "name": "outer dense fiber of sperm tail 2",
                    "type": "synonym"
                },
                {
                    "name": "outer dense fiber of sperm tails protein 2",
                    "type": "synonym"
                },
                {
                    "name": "outer dense fiber protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "outer dense fiber protein 2",
                    "type": "synonym"
                },
                {
                    "name": "sperm outer dense fiber major protein 2",
                    "type": "synonym"
                },
                {
                    "name": "testis-specific autoantigen",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Odf2",
                    "type": "recommended"
                },
                {
                    "name": "KKT4",
                    "type": "synonym"
                },
                {
                    "name": "Odf2",
                    "type": "synonym"
                },
                {
                    "name": "Odf84",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6AYX5-1",
            "evidence": [
                {
                    "id": "0060882",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060882"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43234-1",
            "uniprot_ac": "P43234",
            "uniprot_id": "CATO_HUMAN",
            "refseq_ac": "NP_001325",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cathepsin O",
                    "type": "recommended"
                },
                {
                    "name": "3.4.22.42",
                    "type": "synonym"
                },
                {
                    "name": "cathepsin O preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CTSO",
                    "type": "recommended"
                },
                {
                    "name": "CTSO1",
                    "type": "synonym"
                },
                {
                    "name": "CTSO",
                    "type": "synonym"
                }
            ],
            "record_id": "P43234-1",
            "evidence": [
                {
                    "id": "0060882",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060882"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060882"
}