{
    "disease_id": "DOID:0110938",
    "recommended_name": {
        "id": "DOID:0110938",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110938",
        "name": "autosomal dominant osteopetrosis 2",
        "description": "An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110938",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110938",
            "name": "Albers-Schonberg osteopetrosis",
            "description": ""
        },
        {
            "id": "DOID:0110938",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110938",
            "name": "OPTA2",
            "description": ""
        },
        {
            "id": "DOID:0110938",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110938",
            "name": "autosomal dominant Albers-Schonberg disease",
            "description": ""
        },
        {
            "id": "DOID:0110938",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110938",
            "name": "autosomal dominant osteopetrosis type II",
            "description": ""
        },
        {
            "id": "DOID:0110938",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110938",
            "name": "osteopetrosis autosomal dominant type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008156",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008156",
            "name": "autosomal dominant osteopetrosis 2",
            "description": "A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates)."
        },
        {
            "id": "MONDO:0008156",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008156",
            "name": "Albers-Schnberg osteopetrosis",
            "description": ""
        },
        {
            "id": "MONDO:0008156",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008156",
            "name": "OPTA2",
            "description": ""
        },
        {
            "id": "MONDO:0008156",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008156",
            "name": "autosomal dominant osteopetrosis type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008156",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008156",
            "name": "osteopetrosis autosomal dominant type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008156",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008156",
            "name": "osteopetrosis, autosomal dominant type 2",
            "description": ""
        },
        {
            "id": "MONDO:0008156",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008156",
            "name": "osteopetrosis, autosomal dominant 2",
            "description": ""
        },
        {
            "id": "MIM:166600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/166600",
            "name": "Osteopetrosis, autosomal dominant 2",
            "description": "Osteopetrosis, autosomal dominant 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110938"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110938",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110938",
            "categories": []
        },
        {
            "id": "MONDO:0008156",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008156",
            "categories": []
        },
        {
            "id": "MIM:166600",
            "database": "MIM",
            "url": "https://www.omim.org/entry/166600",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O70496-1",
            "uniprot_ac": "O70496",
            "uniprot_id": "CLCN7_MOUSE",
            "refseq_ac": "NP_036060",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "H(+)/Cl(-) exchange transporter 7",
                    "type": "recommended"
                },
                {
                    "name": "Chloride channel 7 alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "Chloride channel protein 7",
                    "type": "synonym"
                },
                {
                    "name": "ClC-7",
                    "type": "synonym"
                },
                {
                    "name": "H(+)/Cl(-) exchange transporter 7 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel 7 alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein 7",
                    "type": "synonym"
                },
                {
                    "name": "h(+)/Cl(-) exchange transporter 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Clcn7",
                    "type": "recommended"
                },
                {
                    "name": "ClC-7",
                    "type": "synonym"
                },
                {
                    "name": "Clc7",
                    "type": "synonym"
                },
                {
                    "name": "Clcn7",
                    "type": "synonym"
                },
                {
                    "name": "D17Wsu51e",
                    "type": "synonym"
                }
            ],
            "record_id": "O70496-1",
            "evidence": [
                {
                    "id": "0110938",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110938"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51798-1",
            "uniprot_ac": "P51798",
            "uniprot_id": "CLCN7_HUMAN",
            "refseq_ac": "NP_001107803",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "H(+)/Cl(-) exchange transporter 7",
                    "type": "recommended"
                },
                {
                    "name": "Chloride channel 7 alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "Chloride channel protein 7",
                    "type": "synonym"
                },
                {
                    "name": "ClC-7",
                    "type": "synonym"
                },
                {
                    "name": "H(+)/Cl(-) exchange transporter 7 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel 7 alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein 7",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel, voltage-sensitive 7",
                    "type": "synonym"
                },
                {
                    "name": "chloride voltage-gated channel 7",
                    "type": "synonym"
                },
                {
                    "name": "h(+)/Cl(-) exchange transporter 7",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 63",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLCN7",
                    "type": "recommended"
                },
                {
                    "name": "CLC-7",
                    "type": "synonym"
                },
                {
                    "name": "CLC7",
                    "type": "synonym"
                },
                {
                    "name": "CLCN7",
                    "type": "synonym"
                },
                {
                    "name": "HOD",
                    "type": "synonym"
                },
                {
                    "name": "OPTA2",
                    "type": "synonym"
                },
                {
                    "name": "OPTB4",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R63",
                    "type": "synonym"
                }
            ],
            "record_id": "P51798-1",
            "evidence": [
                {
                    "id": "166600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/166600"
                },
                {
                    "id": "0110938",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110938"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51799-1",
            "uniprot_ac": "P51799",
            "uniprot_id": "CLCN7_RAT",
            "refseq_ac": "NP_113756",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "H(+)/Cl(-) exchange transporter 7",
                    "type": "recommended"
                },
                {
                    "name": "Chloride channel 7 alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "Chloride channel protein 7",
                    "type": "synonym"
                },
                {
                    "name": "ClC-7",
                    "type": "synonym"
                },
                {
                    "name": "H(+)/Cl(-) exchange transporter 7",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel 7 alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein 7",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel, voltage-sensitive 7",
                    "type": "synonym"
                },
                {
                    "name": "chloride voltage-gated channel 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Clcn7",
                    "type": "recommended"
                },
                {
                    "name": "ClC-7",
                    "type": "synonym"
                },
                {
                    "name": "Clcn7",
                    "type": "synonym"
                }
            ],
            "record_id": "P51799-1",
            "evidence": [
                {
                    "id": "0110938",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110938"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P68136-1",
            "uniprot_ac": "P68136",
            "uniprot_id": "ACTS_RAT",
            "refseq_ac": "NP_062085",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin, alpha skeletal muscle",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-actin-1",
                    "type": "synonym"
                },
                {
                    "name": "actin alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "actin, alpha skeletal muscle",
                    "type": "synonym"
                },
                {
                    "name": "alpha-actin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Acta1",
                    "type": "recommended"
                },
                {
                    "name": "Acta1",
                    "type": "synonym"
                },
                {
                    "name": "Acta",
                    "type": "synonym"
                }
            ],
            "record_id": "P68136-1",
            "evidence": [
                {
                    "id": "0110938",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110938"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110938"
}