{
    "disease_id": "DOID:0060880",
    "recommended_name": {
        "id": "DOID:0060880",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060880",
        "name": "renal hypomagnesemia 3",
        "description": "A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28."
    },
    "synonyms": [
        {
            "id": "DOID:0060880",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060880",
            "name": "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement",
            "description": ""
        },
        {
            "id": "DOID:0060880",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060880",
            "name": "FHHNC without severe ocular involvement",
            "description": ""
        },
        {
            "id": "DOID:0060880",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060880",
            "name": "HOMG3",
            "description": ""
        },
        {
            "id": "DOID:0060880",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060880",
            "name": "isolated renal hypomagnesemia",
            "description": ""
        },
        {
            "id": "DOID:0060880",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060880",
            "name": "renal hypomagnesemia type 3",
            "description": ""
        },
        {
            "id": "DOID:0060880",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060880",
            "name": "primary hypomagnesemia due to defect in renal tubular transport of magnesium",
            "description": ""
        },
        {
            "id": "MONDO:0009550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009550",
            "name": "renal hypomagnesemia 3",
            "description": "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure."
        },
        {
            "id": "MONDO:0009550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009550",
            "name": "CLDN16 familial primary hypomagnesemia",
            "description": ""
        },
        {
            "id": "MONDO:0009550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009550",
            "name": "CLDN16 primary hypomagnesemia",
            "description": ""
        },
        {
            "id": "MONDO:0009550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009550",
            "name": "FHHNC without severe ocular involvement",
            "description": ""
        },
        {
            "id": "MONDO:0009550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009550",
            "name": "HOMG3",
            "description": ""
        },
        {
            "id": "MONDO:0009550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009550",
            "name": "familial primary hypomagnesemia caused by mutation in CLDN16",
            "description": ""
        },
        {
            "id": "MONDO:0009550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009550",
            "name": "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement",
            "description": ""
        },
        {
            "id": "MONDO:0009550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009550",
            "name": "isolated renal hypomagnesemia",
            "description": ""
        },
        {
            "id": "MONDO:0009550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009550",
            "name": "primary hypomagnesemia caused by mutation in CLDN16",
            "description": ""
        },
        {
            "id": "MONDO:0009550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009550",
            "name": "primary hypomagnesemia due to defect in renal tubular transport of magnesium",
            "description": ""
        },
        {
            "id": "MONDO:0009550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009550",
            "name": "renal hypomagnesemia type 3",
            "description": ""
        },
        {
            "id": "MONDO:0009550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009550",
            "name": "hypercalciuria, childhood, self-limiting",
            "description": ""
        },
        {
            "id": "MONDO:0009550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009550",
            "name": "hypomagnesemia 3, renal",
            "description": ""
        },
        {
            "id": "MONDO:0009550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009550",
            "name": "hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis",
            "description": ""
        },
        {
            "id": "MONDO:0009550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009550",
            "name": "hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis hypercalciuria, childhood, self-limiting, included",
            "description": ""
        },
        {
            "id": "MONDO:0009550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009550",
            "name": "hypomagnesemia, isolated renal",
            "description": ""
        },
        {
            "id": "MONDO:0009550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009550",
            "name": "hypomagnesemia, primary, due to defect in renal tubular Transport Of magnesium",
            "description": ""
        },
        {
            "id": "MONDO:0009550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009550",
            "name": "hypomagnesemia, primary, due to defect in renal tubular Transport of magnesium",
            "description": ""
        },
        {
            "id": "MONDO:0009550",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009550",
            "name": "magnesium, defect in renal tubular transport of",
            "description": ""
        },
        {
            "id": "MIM:248250",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/248250",
            "name": "Hypomagnesemia 3",
            "description": "Hypomagnesemia 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060880"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060880",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060880",
            "categories": []
        },
        {
            "id": "MONDO:0009550",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009550",
            "categories": []
        },
        {
            "id": "MIM:248250",
            "database": "MIM",
            "url": "https://www.omim.org/entry/248250",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Y5I7-1",
            "uniprot_ac": "Q9Y5I7",
            "uniprot_id": "CLD16_HUMAN",
            "refseq_ac": "NP_001365421",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Claudin-16",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "PCLN-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Paracellin-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "claudin-16",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "hypomagnesemia 3, with hypercalciuria and nephrocalcinosis",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "paracellin-1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLDN16",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "CLDN16",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "HOMG3",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "PCLN1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "PCLN1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0060880",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060880"
                },
                {
                    "id": "248250",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/248250"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q925N4-1",
            "uniprot_ac": "Q925N4",
            "uniprot_id": "CLD16_MOUSE",
            "refseq_ac": "NP_444471",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Claudin-16",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "H59D2a protein",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Paracellin-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "claudin-16",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "paracellin-1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cldn16",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Cldn16",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "PCLN1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "claudin-16",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0060880",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060880"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91Y55-1",
            "uniprot_ac": "Q91Y55",
            "uniprot_id": "CLD16_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Claudin-16",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "PLCN-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Paracellin-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cldn16",
                    "resource": "UniProtKB",
                    "type": "recommended"
                }
            ],
            "evidence": [
                {
                    "id": "0060880",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060880"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13589-1",
            "uniprot_ac": "P13589",
            "uniprot_id": "PACA_RAT",
            "refseq_ac": "NP_058685",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pituitary adenylate cyclase-activating polypeptide",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "PACAP",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "PRP-48",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "adenylate cyclase activating polypeptide 1 (pituitary)",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "pituitary adenylate cyclase activating polypeptide 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "pituitary adenylate cyclase-activating polypeptide precursor (Pacap)",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "pituitary adenylate cyclase-activating polypeptide precursor",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adcyap1",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Adcyap1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Pacap",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0060880",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060880"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060880"
}