{
    "disease_id": "DOID:0110975",
    "recommended_name": {
        "id": "DOID:0110975",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110975",
        "name": "brachydactyly type B2",
        "description": "A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110975",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110975",
            "name": "BDB2",
            "description": ""
        },
        {
            "id": "MONDO:0012658",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012658",
            "name": "brachydactyly type B2",
            "description": "Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness."
        },
        {
            "id": "MONDO:0012658",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012658",
            "name": "BDB2",
            "description": ""
        },
        {
            "id": "MONDO:0012658",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012658",
            "name": "brachydactyly, type B2",
            "description": ""
        },
        {
            "id": "MIM:611377",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611377",
            "name": "Brachydactyly B2",
            "description": "Brachydactyly B2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110975"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110975",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110975",
            "categories": []
        },
        {
            "id": "MONDO:0012658",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012658",
            "categories": []
        },
        {
            "id": "MIM:611377",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611377",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9YHV3-1",
            "uniprot_ac": "Q9YHV3",
            "uniprot_id": "NOGG3_DANRE",
            "refseq_ac": "NP_571057",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Noggin-3",
                    "type": "recommended"
                },
                {
                    "name": "noggin-3 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nog3",
                    "type": "recommended"
                },
                {
                    "name": "nog3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9YHV3-1",
            "evidence": [
                {
                    "id": "0110975",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110975"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W741-1",
            "uniprot_ac": "Q9W741",
            "uniprot_id": "NOGG1_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Noggin-1",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "nog1",
                    "type": "recommended"
                }
            ],
            "record_id": "Q9W741-1",
            "evidence": [
                {
                    "id": "0110975",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110975"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97466-1",
            "uniprot_ac": "P97466",
            "uniprot_id": "NOGG_MOUSE",
            "refseq_ac": "NP_032737",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Noggin",
                    "type": "recommended"
                },
                {
                    "name": "noggin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nog",
                    "type": "recommended"
                },
                {
                    "name": "Nog",
                    "type": "synonym"
                }
            ],
            "record_id": "P97466-1",
            "evidence": [
                {
                    "id": "0110975",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110975"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13253-1",
            "uniprot_ac": "Q13253",
            "uniprot_id": "NOGG_HUMAN",
            "refseq_ac": "NP_005441",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Noggin",
                    "type": "recommended"
                },
                {
                    "name": "noggin precursor",
                    "type": "synonym"
                },
                {
                    "name": "symphalangism 1 (proximal)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NOG",
                    "type": "recommended"
                },
                {
                    "name": "NOG",
                    "type": "synonym"
                },
                {
                    "name": "SYM1",
                    "type": "synonym"
                },
                {
                    "name": "SYNS1A",
                    "type": "synonym"
                },
                {
                    "name": "SYNS1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13253-1",
            "evidence": [
                {
                    "id": "611377",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611377"
                },
                {
                    "id": "0110975",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110975"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62809-1",
            "uniprot_ac": "Q62809",
            "uniprot_id": "NOGG_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": "Noggin",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Nog",
                    "type": "recommended"
                }
            ],
            "record_id": "Q62809-1",
            "evidence": [
                {
                    "id": "0110975",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110975"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IXK0-1",
            "uniprot_ac": "Q8IXK0",
            "uniprot_id": "PHC2_HUMAN",
            "refseq_ac": "NP_004418",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Polyhomeotic-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Early development regulatory protein 2",
                    "type": "synonym"
                },
                {
                    "name": "early development regulator 2 (homolog of polyhomeotic 2)",
                    "type": "synonym"
                },
                {
                    "name": "early development regulatory protein 2",
                    "type": "synonym"
                },
                {
                    "name": "hPH2",
                    "type": "synonym"
                },
                {
                    "name": "polyhomeotic-like 2",
                    "type": "synonym"
                },
                {
                    "name": "polyhomeotic-like protein 2 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "polyhomeotic-like protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PHC2",
                    "type": "recommended"
                },
                {
                    "name": "EDR2",
                    "type": "synonym"
                },
                {
                    "name": "HPH2",
                    "type": "synonym"
                },
                {
                    "name": "PH2",
                    "type": "synonym"
                },
                {
                    "name": "PHC2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IXK0-1",
            "evidence": [
                {
                    "id": "0110975",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110975"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110975"
}