{
    "disease_id": "DOID:0110939",
    "recommended_name": {
        "id": "DOID:0110939",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110939",
        "name": "autosomal recessive osteopetrosis 5",
        "description": "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110939",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110939",
            "name": "OPTB5",
            "description": ""
        },
        {
            "id": "DOID:0110939",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110939",
            "name": "infantile malignant osteopetrosis 3",
            "description": ""
        },
        {
            "id": "MONDO:0009817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009817",
            "name": "autosomal recessive osteopetrosis 5",
            "description": "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the OSTM1 gene."
        },
        {
            "id": "MONDO:0009817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009817",
            "name": "OPTB5",
            "description": ""
        },
        {
            "id": "MONDO:0009817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009817",
            "name": "OSTM1 osteopetrosis (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0009817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009817",
            "name": "autosomal recessive osteopetrosis 5",
            "description": ""
        },
        {
            "id": "MONDO:0009817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009817",
            "name": "autosomal recessive osteopetrosis type 5",
            "description": ""
        },
        {
            "id": "MONDO:0009817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009817",
            "name": "osteopetrosis (disease) caused by mutation in OSTM1",
            "description": ""
        },
        {
            "id": "MONDO:0009817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009817",
            "name": "osteopetrosis, autosomal recessive type 5",
            "description": ""
        },
        {
            "id": "MONDO:0009817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009817",
            "name": "osteopetrosis autosomal recessive 5",
            "description": ""
        },
        {
            "id": "MONDO:0009817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009817",
            "name": "osteopetrosis infantile malignant 3",
            "description": ""
        },
        {
            "id": "MONDO:0009817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009817",
            "name": "osteopetrosis, autosomal recessive 5",
            "description": ""
        },
        {
            "id": "MIM:259720",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/259720",
            "name": "Osteopetrosis, autosomal recessive 5",
            "description": "Osteopetrosis, autosomal recessive 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110939"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110939",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110939",
            "categories": []
        },
        {
            "id": "MONDO:0009817",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009817",
            "categories": []
        },
        {
            "id": "MIM:259720",
            "database": "MIM",
            "url": "https://www.omim.org/entry/259720",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB13A3U1-1",
            "uniprot_ac": "A0AB13A3U1",
            "uniprot_id": "A0AB13A3U1_DANRE",
            "refseq_ac": "NP_001373239",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Osteopetrosis-associated transmembrane protein 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "osteopetrosis associated transmembrane protein 1",
                    "type": "synonym"
                },
                {
                    "name": "osteopetrosis-associated transmembrane protein 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ostm1",
                    "type": "recommended"
                },
                {
                    "name": "fa04a09",
                    "type": "synonym"
                },
                {
                    "name": "ostm1",
                    "type": "synonym"
                },
                {
                    "name": "si:ch73-257c13.3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa04a09",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB13A3U1-1",
            "evidence": [
                {
                    "id": "0110939",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110939"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BGT0-1",
            "uniprot_ac": "Q8BGT0",
            "uniprot_id": "OSTM1_MOUSE",
            "refseq_ac": "NP_766004",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Osteopetrosis-associated transmembrane protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Chloride channel 7 beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "Grey-lethal protein",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel 7 beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "grey lethal osteopetrosis",
                    "type": "synonym"
                },
                {
                    "name": "osteopetrosis-associated transmembrane protein 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ostm1",
                    "type": "recommended"
                },
                {
                    "name": "1200002H13Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gl",
                    "type": "synonym"
                },
                {
                    "name": "HSPC019",
                    "type": "synonym"
                },
                {
                    "name": "Ostm1",
                    "type": "synonym"
                },
                {
                    "name": "gl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BGT0-1",
            "evidence": [
                {
                    "id": "0110939",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110939"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86WC4-1",
            "uniprot_ac": "Q86WC4",
            "uniprot_id": "OSTM1_HUMAN",
            "refseq_ac": "NP_054747",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Osteopetrosis-associated transmembrane protein 1",
                    "type": "recommended"
                },
                {
                    "name": "CLCN7 accessory beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "Chloride channel 7 beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "GAIP-interacting protein N terminus",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel 7 beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "grey-lethal osteopetrosis",
                    "type": "synonym"
                },
                {
                    "name": "osteopetrosis associated transmembrane protein 1",
                    "type": "synonym"
                },
                {
                    "name": "osteopetrosis-associated transmembrane protein 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OSTM1",
                    "type": "recommended"
                },
                {
                    "name": "GIPN",
                    "type": "synonym"
                },
                {
                    "name": "GL",
                    "type": "synonym"
                },
                {
                    "name": "HSPC019",
                    "type": "synonym"
                },
                {
                    "name": "OPTB5",
                    "type": "synonym"
                },
                {
                    "name": "OSTM1",
                    "type": "synonym"
                },
                {
                    "name": "PRO21201",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86WC4-1",
            "evidence": [
                {
                    "id": "259720",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/259720"
                },
                {
                    "id": "0110939",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110939"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110939"
}