{
    "disease_id": "DOID:0110941",
    "recommended_name": {
        "id": "DOID:0110941",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110941",
        "name": "autosomal recessive osteopetrosis 3",
        "description": "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110941",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110941",
            "name": "Guibaud-Vainsel syndrome",
            "description": ""
        },
        {
            "id": "DOID:0110941",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110941",
            "name": "OPTB3",
            "description": ""
        },
        {
            "id": "DOID:0110941",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110941",
            "name": "carbonic anhydrase II deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110941",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110941",
            "name": "marble brain disease",
            "description": ""
        },
        {
            "id": "DOID:0110941",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110941",
            "name": "osteopetrosis with renal tubular acidosis",
            "description": ""
        },
        {
            "id": "DOID:0110941",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110941",
            "name": "autosomal recessive osteopetrosis 3 with renal tubular acidosis",
            "description": ""
        },
        {
            "id": "MONDO:0009818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009818",
            "name": "autosomal recessive osteopetrosis 3",
            "description": "Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications."
        },
        {
            "id": "MONDO:0009818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009818",
            "name": "Autosomal Recessive osteopetrosis, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0009818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009818",
            "name": "CA2 osteopetrosis (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0009818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009818",
            "name": "Guibaud-Vainsel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009818",
            "name": "OPTB3",
            "description": ""
        },
        {
            "id": "MONDO:0009818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009818",
            "name": "autosomal recessive osteopetrosis 3 with renal tubular acidosis",
            "description": ""
        },
        {
            "id": "MONDO:0009818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009818",
            "name": "autosomal recessive osteopetrosis type 3",
            "description": ""
        },
        {
            "id": "MONDO:0009818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009818",
            "name": "carbonic anhydrase 2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009818",
            "name": "carbonic anhydrase II deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009818",
            "name": "marble brain disease",
            "description": ""
        },
        {
            "id": "MONDO:0009818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009818",
            "name": "mixed RTA",
            "description": ""
        },
        {
            "id": "MONDO:0009818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009818",
            "name": "mixed renal tubular acidosis",
            "description": ""
        },
        {
            "id": "MONDO:0009818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009818",
            "name": "osteopetrosis (disease) caused by mutation in CA2",
            "description": ""
        },
        {
            "id": "MONDO:0009818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009818",
            "name": "osteopetrosis with renal tubular acidosis",
            "description": ""
        },
        {
            "id": "MONDO:0009818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009818",
            "name": "osteopetrosis, autosomal recessive 3, with renal tubular acidosis",
            "description": ""
        },
        {
            "id": "MONDO:0009818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009818",
            "name": "osteopetrosis, autosomal recessive type 3",
            "description": ""
        },
        {
            "id": "MONDO:0009818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009818",
            "name": "renal tubular acidosis type 3",
            "description": ""
        },
        {
            "id": "MONDO:0009818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009818",
            "name": "Guibaud Vainsel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009818",
            "name": "osteopetrosis autosomal recessive 3",
            "description": ""
        },
        {
            "id": "MONDO:0009818",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009818",
            "name": "osteopetrosis, autosomal recessive 3",
            "description": ""
        },
        {
            "id": "MIM:259730",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/259730",
            "name": "Osteopetrosis, autosomal recessive 3",
            "description": "Osteopetrosis, autosomal recessive 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110941"
    ],
    "unlinked_id_list": []
}