{
    "disease_id": "DOID:0080263",
    "recommended_name": {
        "id": "DOID:0080263",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080263",
        "name": "autosomal recessive nonsyndromic deafness 108",
        "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the ROR1 gene on chromosome 1p31."
    },
    "synonyms": [
        {
            "id": "MONDO:0033200",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033200",
            "name": "hearing loss, autosomal recessive 108",
            "description": ""
        },
        {
            "id": "MONDO:0033200",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033200",
            "name": "DFNB108",
            "description": ""
        },
        {
            "id": "MONDO:0033200",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033200",
            "name": "autosomal recessive nonsyndromic deafness 108",
            "description": ""
        },
        {
            "id": "MONDO:0033200",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033200",
            "name": "deafness, autosomal recessive 108",
            "description": ""
        },
        {
            "id": "MIM:617654",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617654",
            "name": "Deafness, autosomal recessive, 108",
            "description": "Deafness, autosomal recessive, 108"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080263"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080263",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080263",
            "categories": []
        },
        {
            "id": "MONDO:0033200",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033200",
            "categories": []
        },
        {
            "id": "MIM:617654",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617654",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QKB5-1",
            "uniprot_ac": "F1QKB5",
            "uniprot_id": "F1QKB5_DANRE",
            "refseq_ac": "XP_005165942",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inactive tyrosine-protein kinase transmembrane receptor ROR1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "inactive tyrosine-protein kinase transmembrane receptor ROR1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ror1",
                    "type": "recommended"
                },
                {
                    "name": "ror1",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QKB5-1",
            "evidence": [
                {
                    "id": "0080263",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080263"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z139-1",
            "uniprot_ac": "Q9Z139",
            "uniprot_id": "ROR1_MOUSE",
            "refseq_ac": "NP_001299619",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inactive tyrosine-protein kinase transmembrane receptor ROR1",
                    "type": "recommended"
                },
                {
                    "name": "Neurotrophic tyrosine kinase, receptor-related 1",
                    "type": "synonym"
                },
                {
                    "name": "inactive tyrosine-protein kinase transmembrane receptor ROR1 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "inactive tyrosine-protein kinase transmembrane receptor ROR1",
                    "type": "synonym"
                },
                {
                    "name": "mROR1",
                    "type": "synonym"
                },
                {
                    "name": "neurotrophic tyrosine kinase, receptor-related 1",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase transmembrane receptor ROR1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ror1",
                    "type": "recommended"
                },
                {
                    "name": "2810404D04Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ntrkr1",
                    "type": "synonym"
                },
                {
                    "name": "Ror1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z139-1",
            "evidence": [
                {
                    "id": "0080263",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080263"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01973-1",
            "uniprot_ac": "Q01973",
            "uniprot_id": "ROR1_HUMAN",
            "refseq_ac": "NP_001077061",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inactive tyrosine-protein kinase transmembrane receptor ROR1",
                    "type": "recommended"
                },
                {
                    "name": "Neurotrophic tyrosine kinase, receptor-related 1",
                    "type": "synonym"
                },
                {
                    "name": "inactive tyrosine-protein kinase transmembrane receptor ROR1 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "inactive tyrosine-protein kinase transmembrane receptor ROR1",
                    "type": "synonym"
                },
                {
                    "name": "neurotrophic tyrosine kinase, receptor-related 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ROR1",
                    "type": "recommended"
                },
                {
                    "name": "NTRKR1",
                    "type": "synonym"
                },
                {
                    "name": "ROR1",
                    "type": "synonym"
                },
                {
                    "name": "dJ537F10.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01973-1",
            "evidence": [
                {
                    "id": "617654",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617654"
                },
                {
                    "id": "0080263",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080263"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZQX3-1",
            "uniprot_ac": "A0A8I5ZQX3",
            "uniprot_id": "A0A8I5ZQX3_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor tyrosine kinase-like orphan receptor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ror1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I5ZQX3-1",
            "evidence": [
                {
                    "id": "0080263",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080263"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24488-1",
            "uniprot_ac": "Q24488",
            "uniprot_id": "ROR1_DROME",
            "refseq_ac": "NP_476962",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase transmembrane receptor Ror",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "CG4926-PA",
                    "type": "synonym"
                },
                {
                    "name": "RTK-like orphan receptors",
                    "type": "synonym"
                },
                {
                    "name": "Ror-PA",
                    "type": "synonym"
                },
                {
                    "name": "Ror",
                    "type": "synonym"
                },
                {
                    "name": "dRor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ror",
                    "type": "recommended"
                },
                {
                    "name": "CG4926",
                    "type": "synonym"
                },
                {
                    "name": "DRor",
                    "type": "synonym"
                },
                {
                    "name": "DmHD-2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4926",
                    "type": "synonym"
                },
                {
                    "name": "Dror",
                    "type": "synonym"
                },
                {
                    "name": "HD-2",
                    "type": "synonym"
                },
                {
                    "name": "ROR-alpha",
                    "type": "synonym"
                },
                {
                    "name": "ROR1",
                    "type": "synonym"
                },
                {
                    "name": "ROR",
                    "type": "synonym"
                },
                {
                    "name": "Ror",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24488-1",
            "evidence": [
                {
                    "id": "0080263",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080263"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080263"
}