{
    "disease_id": "DOID:0060881",
    "recommended_name": {
        "id": "DOID:0060881",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060881",
        "name": "renal hypomagnesemia 5 with ocular involvement",
        "description": "A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has_material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2."
    },
    "synonyms": [
        {
            "id": "DOID:0060881",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060881",
            "name": "FHHNC with severe ocular involvement",
            "description": ""
        },
        {
            "id": "DOID:0060881",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060881",
            "name": "Meier-Blumberg-Imahorn syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060881",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060881",
            "name": "bilateral macular coloboma with hypercalciuria",
            "description": ""
        },
        {
            "id": "DOID:0060881",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060881",
            "name": "hypercalciuria-bilateral macular coloboma syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060881",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060881",
            "name": "familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement",
            "description": ""
        },
        {
            "id": "MONDO:0009548",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009548",
            "name": "renal hypomagnesemia 5 with ocular involvement",
            "description": "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities."
        },
        {
            "id": "MONDO:0009548",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009548",
            "name": "FHHNC with severe ocular involvement",
            "description": ""
        },
        {
            "id": "MONDO:0009548",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009548",
            "name": "FHHNCOI",
            "description": ""
        },
        {
            "id": "MONDO:0009548",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009548",
            "name": "Meier-Blumberg-Imahorn syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009548",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009548",
            "name": "hypercalciuria-bilateral macular coloboma syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009548",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009548",
            "name": "HOMG5",
            "description": ""
        },
        {
            "id": "MONDO:0009548",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009548",
            "name": "Meier Blumberg Imahorn syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009548",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009548",
            "name": "hypomagnesemia 5, renal, with ocular involvement",
            "description": ""
        },
        {
            "id": "MONDO:0009548",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009548",
            "name": "idiopathic hypercalciuria with bilateral macular colobomata",
            "description": ""
        },
        {
            "id": "MIM:248190",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/248190",
            "name": "Hypomagnesemia 5, renal, with or without ocular involvement",
            "description": "Hypomagnesemia 5, renal, with or without ocular involvement"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060881"
    ],
    "unlinked_id_list": []
}