{
    "disease_id": "DOID:0110969",
    "recommended_name": {
        "id": "DOID:0110969",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110969",
        "name": "brachydactyly type B1",
        "description": "A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has_material_basis_in heterozygous mutation in the ROR2 gene on chromosome 9q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110969",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110969",
            "name": "BDB1",
            "description": ""
        },
        {
            "id": "MONDO:0007220",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007220",
            "name": "brachydactyly type B1",
            "description": "Any brachydactyly type B in which the cause of the disease is a mutation in the ROR2 gene."
        },
        {
            "id": "MONDO:0007220",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007220",
            "name": "BDB1",
            "description": ""
        },
        {
            "id": "MONDO:0007220",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007220",
            "name": "ROR2 brachydactyly type B",
            "description": ""
        },
        {
            "id": "MONDO:0007220",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007220",
            "name": "brachydactyly type B caused by mutation in ROR2",
            "description": ""
        },
        {
            "id": "MONDO:0007220",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007220",
            "name": "brachydactyly, type B1",
            "description": ""
        },
        {
            "id": "MIM:113000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/113000",
            "name": "Brachydactyly B1",
            "description": "Brachydactyly B1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110969"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110969",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110969",
            "categories": []
        },
        {
            "id": "MONDO:0007220",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007220",
            "categories": []
        },
        {
            "id": "MIM:113000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/113000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FCE4-1",
            "uniprot_ac": "E7FCE4",
            "uniprot_id": "E7FCE4_DANRE",
            "refseq_ac": "XP_021327888",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase transmembrane receptor ROR2",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase transmembrane receptor ROR2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ror2",
                    "type": "recommended"
                },
                {
                    "name": "ror2",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FCE4-1",
            "evidence": [
                {
                    "id": "0110969",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110969"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z138-1",
            "uniprot_ac": "Q9Z138",
            "uniprot_id": "ROR2_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase transmembrane receptor ROR2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "Neurotrophic tyrosine kinase, receptor-related 2",
                    "type": "synonym"
                },
                {
                    "name": "mROR2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ror2",
                    "type": "recommended"
                }
            ],
            "record_id": "Q9Z138-1",
            "evidence": [
                {
                    "id": "0110969",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110969"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01974-1",
            "uniprot_ac": "Q01974",
            "uniprot_id": "ROR2_HUMAN",
            "refseq_ac": "NP_001305133",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyrosine-protein kinase transmembrane receptor ROR2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "Neurotrophic tyrosine kinase, receptor-related 2",
                    "type": "synonym"
                },
                {
                    "name": "neurotrophic tyrosine kinase receptor-related 2",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase transmembrane receptor ROR2 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase transmembrane receptor ROR2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ROR2",
                    "type": "recommended"
                },
                {
                    "name": "BDB1",
                    "type": "synonym"
                },
                {
                    "name": "BDB",
                    "type": "synonym"
                },
                {
                    "name": "NTRKR2",
                    "type": "synonym"
                },
                {
                    "name": "ROR2",
                    "type": "synonym"
                },
                {
                    "name": "RRS1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01974-1",
            "evidence": [
                {
                    "id": "113000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/113000"
                },
                {
                    "id": "0110969",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110969"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0M2Z2-1",
            "uniprot_ac": "A0ABK0M2Z2",
            "uniprot_id": "A0ABK0M2Z2_RAT",
            "refseq_ac": "XP_017455997",
            "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 2",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase transmembrane receptor ROR2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ror2",
                    "type": "recommended"
                },
                {
                    "name": "Ror2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0M2Z2-1",
            "evidence": [
                {
                    "id": "0110969",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110969"
                }
            ]
        },
        {
            "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": "0110969",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110969"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110969"
}