{
    "disease_id": "DOID:0111513",
    "recommended_name": {
        "id": "DOID:0111513",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111513",
        "name": "metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome",
        "description": "An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has_material_basis_in heterozygous duplication of the RUNX2 gene on chromosome 6p21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111513",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111513",
            "name": "metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly",
            "description": ""
        },
        {
            "id": "DOID:0111513",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111513",
            "name": "metaphyseal dysplasia maxillary hypoplasia brachydactyly",
            "description": ""
        },
        {
            "id": "MONDO:0007984",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007984",
            "name": "metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome",
            "description": "Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait."
        },
        {
            "id": "MONDO:0007984",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007984",
            "name": "MDMHB",
            "description": ""
        },
        {
            "id": "MONDO:0007984",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007984",
            "name": "metaphyseal dysplasia maxillary hypoplasia brachydactyly",
            "description": ""
        },
        {
            "id": "MONDO:0007984",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007984",
            "name": "metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly",
            "description": ""
        },
        {
            "id": "MIM:156510",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/156510",
            "name": "Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly",
            "description": "Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111513"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111513",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111513",
            "categories": []
        },
        {
            "id": "MONDO:0007984",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007984",
            "categories": []
        },
        {
            "id": "MIM:156510",
            "database": "MIM",
            "url": "https://www.omim.org/entry/156510",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32T797-1",
            "uniprot_ac": "A0AB32T797",
            "uniprot_id": "A0AB32T797_DANRE",
            "refseq_ac": "XP_068070470",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Runt-related transcription factor",
                    "type": "recommended"
                },
                {
                    "name": "runt-related transcription factor 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "runx2a",
                    "type": "recommended"
                },
                {
                    "name": "runx2a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32T797-1",
            "evidence": [
                {
                    "id": "0111513",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111513"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08775-1",
            "uniprot_ac": "Q08775",
            "uniprot_id": "RUNX2_MOUSE",
            "refseq_ac": "NP_001139510",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Runt-related transcription factor 2",
                    "type": "recommended"
                },
                {
                    "name": "AKV core binding factor",
                    "type": "synonym"
                },
                {
                    "name": "Acute myeloid leukemia 3 protein",
                    "type": "synonym"
                },
                {
                    "name": "CBF-alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "Core-binding factor subunit alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "OSF-2",
                    "type": "synonym"
                },
                {
                    "name": "Oncogene AML-3",
                    "type": "synonym"
                },
                {
                    "name": "Osteoblast-specific transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "PEA2-alpha A",
                    "type": "synonym"
                },
                {
                    "name": "PEBP2 alpha A",
                    "type": "synonym"
                },
                {
                    "name": "PEBP2-alpha A",
                    "type": "synonym"
                },
                {
                    "name": "Polyomavirus enhancer-binding protein 2 alpha A subunit",
                    "type": "synonym"
                },
                {
                    "name": "SL3-3 enhancer factor 1 alpha A subunit",
                    "type": "synonym"
                },
                {
                    "name": "SL3/AKV core-binding factor alpha A subunit",
                    "type": "synonym"
                },
                {
                    "name": "acute myeloid leukemia 3 protein",
                    "type": "synonym"
                },
                {
                    "name": "core binding factor alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "osteoblast-specific transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "polyomavirus enhancer-binding protein 2 alpha A subunit",
                    "type": "synonym"
                },
                {
                    "name": "runt domain, alpha subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "runt-related transcription factor 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor Cbfa1/Osf2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Runx2",
                    "type": "recommended"
                },
                {
                    "name": "AML3",
                    "type": "synonym"
                },
                {
                    "name": "Aml3",
                    "type": "synonym"
                },
                {
                    "name": "CBF-alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "Cbfa-1",
                    "type": "synonym"
                },
                {
                    "name": "Cbfa1",
                    "type": "synonym"
                },
                {
                    "name": "Cbf",
                    "type": "synonym"
                },
                {
                    "name": "LS3",
                    "type": "synonym"
                },
                {
                    "name": "Osf2",
                    "type": "synonym"
                },
                {
                    "name": "PEBP2aA",
                    "type": "synonym"
                },
                {
                    "name": "Pebp2a1",
                    "type": "synonym"
                },
                {
                    "name": "Pebp2a",
                    "type": "synonym"
                },
                {
                    "name": "Pebpa2a",
                    "type": "synonym"
                },
                {
                    "name": "Runx2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08775-1",
            "evidence": [
                {
                    "id": "0111513",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111513"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13950-1",
            "uniprot_ac": "Q13950",
            "uniprot_id": "RUNX2_HUMAN",
            "refseq_ac": "NP_001015051",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Runt-related transcription factor 2",
                    "type": "recommended"
                },
                {
                    "name": "Acute myeloid leukemia 3 protein",
                    "type": "synonym"
                },
                {
                    "name": "CBF-alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "Core-binding factor subunit alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "OSF-2",
                    "type": "synonym"
                },
                {
                    "name": "Oncogene AML-3",
                    "type": "synonym"
                },
                {
                    "name": "Osteoblast-specific transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "PEA2-alpha A",
                    "type": "synonym"
                },
                {
                    "name": "PEBP2-alpha A",
                    "type": "synonym"
                },
                {
                    "name": "Polyomavirus enhancer-binding protein 2 alpha A subunit",
                    "type": "synonym"
                },
                {
                    "name": "SL3-3 enhancer factor 1 alpha A subunit",
                    "type": "synonym"
                },
                {
                    "name": "SL3/AKV core-binding factor alpha A subunit",
                    "type": "synonym"
                },
                {
                    "name": "acute myeloid leukemia 3 protein",
                    "type": "synonym"
                },
                {
                    "name": "core-binding factor, runt domain, alpha subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "oncogene AML-3",
                    "type": "synonym"
                },
                {
                    "name": "osteoblast-specific transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "polyomavirus enhancer-binding protein 2 alpha A subunit",
                    "type": "synonym"
                },
                {
                    "name": "runt related transcription factor 2",
                    "type": "synonym"
                },
                {
                    "name": "runt-related transcription factor 2 isoform b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RUNX2",
                    "type": "recommended"
                },
                {
                    "name": "AML3",
                    "type": "synonym"
                },
                {
                    "name": "CBF-alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "CBFA1",
                    "type": "synonym"
                },
                {
                    "name": "CCD1",
                    "type": "synonym"
                },
                {
                    "name": "CCD",
                    "type": "synonym"
                },
                {
                    "name": "CLCD",
                    "type": "synonym"
                },
                {
                    "name": "OSF-2",
                    "type": "synonym"
                },
                {
                    "name": "OSF2",
                    "type": "synonym"
                },
                {
                    "name": "PEA2aA",
                    "type": "synonym"
                },
                {
                    "name": "PEBP2A",
                    "type": "synonym"
                },
                {
                    "name": "PEBP2aA",
                    "type": "synonym"
                },
                {
                    "name": "RUNX2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13950-1",
            "evidence": [
                {
                    "id": "156510",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/156510"
                },
                {
                    "id": "0111513",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111513"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z2J9-1",
            "uniprot_ac": "Q9Z2J9",
            "uniprot_id": "RUNX2_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Runt-related transcription factor 2",
                    "type": "recommended"
                },
                {
                    "name": "CBF-alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "Core-binding factor subunit alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "OSF-2",
                    "type": "synonym"
                },
                {
                    "name": "Osteoblast-specific transcription factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Runx2",
                    "type": "recommended"
                },
                {
                    "name": "Cbfa1",
                    "type": "synonym"
                },
                {
                    "name": "Osf2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z2J9-1",
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                {
                    "id": "0111513",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111513"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PI08-1",
            "uniprot_ac": "M9PI08",
            "uniprot_id": "M9PI08_DROME",
            "refseq_ac": "NP_001259747",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG34145-PD",
                    "type": "synonym"
                },
                {
                    "name": "Runt related A, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "RunxA-PD",
                    "type": "synonym"
                },
                {
                    "name": "runt related A, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RunxA",
                    "type": "recommended"
                },
                {
                    "name": "CG1379",
                    "type": "synonym"
                },
                {
                    "name": "CG15453",
                    "type": "synonym"
                },
                {
                    "name": "CG34145",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG34145",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG34145",
                    "type": "synonym"
                },
                {
                    "name": "RUNXA",
                    "type": "synonym"
                },
                {
                    "name": "RunXA",
                    "type": "synonym"
                },
                {
                    "name": "RunxA",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PI08-1",
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                {
                    "id": "0111513",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111513"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22814-1",
            "uniprot_ac": "P22814",
            "uniprot_id": "RUNT_DROME",
            "refseq_ac": "NP_001285501",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Segmentation protein Runt",
                    "type": "recommended"
                },
                {
                    "name": "CG1849-PC",
                    "type": "synonym"
                },
                {
                    "name": "legless",
                    "type": "synonym"
                },
                {
                    "name": "run-PC",
                    "type": "synonym"
                },
                {
                    "name": "runt, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "runt",
                    "type": "synonym"
                },
                {
                    "name": "section 1",
                    "type": "synonym"
                },
                {
                    "name": "section 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "run",
                    "type": "recommended"
                },
                {
                    "name": "13.1",
                    "type": "synonym"
                },
                {
                    "name": "1",
                    "type": "synonym"
                },
                {
                    "name": "2",
                    "type": "synonym"
                },
                {
                    "name": "AA33",
                    "type": "synonym"
                },
                {
                    "name": "CG1849",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1849",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1849",
                    "type": "synonym"
                },
                {
                    "name": "LB5",
                    "type": "synonym"
                },
                {
                    "name": "P235",
                    "type": "synonym"
                },
                {
                    "name": "RUN",
                    "type": "synonym"
                },
                {
                    "name": "Rnt",
                    "type": "synonym"
                },
                {
                    "name": "Runt",
                    "type": "synonym"
                },
                {
                    "name": "Run",
                    "type": "synonym"
                },
                {
                    "name": "l(1)19Ea",
                    "type": "synonym"
                },
                {
                    "name": "l(1)AA33",
                    "type": "synonym"
                },
                {
                    "name": "l(1)B2/13.1",
                    "type": "synonym"
                },
                {
                    "name": "l(1)LB9",
                    "type": "synonym"
                },
                {
                    "name": "lLB5",
                    "type": "synonym"
                },
                {
                    "name": "leg",
                    "type": "synonym"
                },
                {
                    "name": "runt",
                    "type": "synonym"
                },
                {
                    "name": "run",
                    "type": "synonym"
                }
            ],
            "record_id": "P22814-1",
            "evidence": [
                {
                    "id": "0111513",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111513"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VRA9-1",
            "uniprot_ac": "Q9VRA9",
            "uniprot_id": "Q9VRA9_DROME",
            "refseq_ac": "NP_001259745",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG42267-PC",
                    "type": "synonym"
                },
                {
                    "name": "Runt related B",
                    "type": "synonym"
                },
                {
                    "name": "RunxB-PC",
                    "type": "synonym"
                },
                {
                    "name": "runt related B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RunxB",
                    "type": "recommended"
                },
                {
                    "name": "CG15454",
                    "type": "synonym"
                },
                {
                    "name": "CG15455",
                    "type": "synonym"
                },
                {
                    "name": "CG42267",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42267",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42267",
                    "type": "synonym"
                },
                {
                    "name": "RUNXB",
                    "type": "synonym"
                },
                {
                    "name": "RunxB",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VRA9-1",
            "evidence": [
                {
                    "id": "0111513",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111513"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111513"
}