{
    "disease_id": "DOID:0110940",
    "recommended_name": {
        "id": "DOID:0110940",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110940",
        "name": "autosomal recessive osteopetrosis 8",
        "description": "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15."
    },
    "synonyms": [
        {
            "id": "DOID:0110940",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110940",
            "name": "OPTB8",
            "description": ""
        },
        {
            "id": "MONDO:0014040",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014040",
            "name": "autosomal recessive osteopetrosis 8",
            "description": "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the SNX10 gene."
        },
        {
            "id": "MONDO:0014040",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014040",
            "name": "OPTB8",
            "description": ""
        },
        {
            "id": "MONDO:0014040",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014040",
            "name": "SNX10 autosomal recessive malignant osteopetrosis",
            "description": ""
        },
        {
            "id": "MONDO:0014040",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014040",
            "name": "SNX10 autosomal recessive osteopetrosis",
            "description": ""
        },
        {
            "id": "MONDO:0014040",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014040",
            "name": "autosomal recessive malignant osteopetrosis caused by mutation in SNX10",
            "description": ""
        },
        {
            "id": "MONDO:0014040",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014040",
            "name": "autosomal recessive osteopetrosis caused by mutation in SNX10",
            "description": ""
        },
        {
            "id": "MONDO:0014040",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014040",
            "name": "autosomal recessive osteopetrosis type 8",
            "description": ""
        },
        {
            "id": "MONDO:0014040",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014040",
            "name": "osteopetrosis, autosomal recessive type 8",
            "description": ""
        },
        {
            "id": "MONDO:0014040",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014040",
            "name": "osteopetrosis, autosomal recessive 8",
            "description": ""
        },
        {
            "id": "MIM:615085",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615085",
            "name": "Osteopetrosis, autosomal recessive 8",
            "description": "Osteopetrosis, autosomal recessive 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110940"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110940",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110940",
            "categories": []
        },
        {
            "id": "MONDO:0014040",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014040",
            "categories": []
        },
        {
            "id": "MIM:615085",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615085",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A8WG21-1",
            "uniprot_ac": "A8WG21",
            "uniprot_id": "SNXAB_DANRE",
            "refseq_ac": "NP_001103866",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sorting nexin-10B",
                    "type": "recommended"
                },
                {
                    "name": "sorting nexin-10B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "snx10b",
                    "type": "recommended"
                },
                {
                    "name": "snx10b",
                    "type": "synonym"
                }
            ],
            "record_id": "A8WG21-1",
            "evidence": [
                {
                    "id": "0110940",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110940"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1Q506-1",
            "uniprot_ac": "F1Q506",
            "uniprot_id": "SNXAA_DANRE",
            "refseq_ac": "NP_001132934",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sorting nexin-10A",
                    "type": "recommended"
                },
                {
                    "name": "sorting nexin-10A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "snx10a",
                    "type": "recommended"
                },
                {
                    "name": "Snx10",
                    "type": "synonym"
                },
                {
                    "name": "im:7153949",
                    "type": "synonym"
                },
                {
                    "name": "snx10a",
                    "type": "synonym"
                }
            ],
            "record_id": "F1Q506-1",
            "evidence": [
                {
                    "id": "0110940",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110940"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CWT3-1",
            "uniprot_ac": "Q9CWT3",
            "uniprot_id": "SNX10_MOUSE",
            "refseq_ac": "NP_001120820",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sorting nexin-10",
                    "type": "recommended"
                },
                {
                    "name": "sorting nexin-10 isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Snx10",
                    "type": "recommended"
                },
                {
                    "name": "2410004M09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Snx10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CWT3-1",
            "evidence": [
                {
                    "id": "0110940",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110940"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y5X0-1",
            "uniprot_ac": "Q9Y5X0",
            "uniprot_id": "SNX10_HUMAN",
            "refseq_ac": "NP_001186764",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sorting nexin-10",
                    "type": "recommended"
                },
                {
                    "name": "sorting nexin-10 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SNX10",
                    "type": "recommended"
                },
                {
                    "name": "OPTB8",
                    "type": "synonym"
                },
                {
                    "name": "SNX10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y5X0-1",
            "evidence": [
                {
                    "id": "615085",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615085"
                },
                {
                    "id": "0110940",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110940"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7FI04-1",
            "uniprot_ac": "F7FI04",
            "uniprot_id": "F7FI04_RAT",
            "refseq_ac": "NP_001013103",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sorting nexin 10",
                    "type": "synonym"
                },
                {
                    "name": "sorting nexin-10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Snx10",
                    "type": "recommended"
                },
                {
                    "name": "Snx10",
                    "type": "synonym"
                }
            ],
            "record_id": "F7FI04-1",
            "evidence": [
                {
                    "id": "0110940",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110940"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110940"
}