{
    "disease_id": "DOID:0060989",
    "recommended_name": {
        "id": "DOID:0060989",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060989",
        "name": "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1",
        "description": "A syndrome characterized by distinctive facial features including midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding with keletal anomalies including patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray that has_material_basis_in heterozygous mutation in the BMP2 gene on chromosome 20p12."
    },
    "synonyms": [
        {
            "id": "DOID:0060989",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060989",
            "name": "SSFSC1",
            "description": ""
        },
        {
            "id": "MONDO:0100297",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100297",
            "name": "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1",
            "description": ""
        },
        {
            "id": "MONDO:0100297",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100297",
            "name": "SSFSC",
            "description": ""
        },
        {
            "id": "MIM:617877",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617877",
            "name": "Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1",
            "description": "Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060989"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060989",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060989",
            "categories": []
        },
        {
            "id": "MONDO:0100297",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100297",
            "categories": []
        },
        {
            "id": "MIM:617877",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617877",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P21274-1",
            "uniprot_ac": "P21274",
            "uniprot_id": "BMP2_MOUSE",
            "refseq_ac": "NP_031579",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bone morphogenetic protein 2",
                    "type": "recommended"
                },
                {
                    "name": "BMP-2A",
                    "type": "synonym"
                },
                {
                    "name": "BMP-2",
                    "type": "synonym"
                },
                {
                    "name": "Bone morphogenetic protein 2A",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 2 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 2A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bmp2",
                    "type": "recommended"
                },
                {
                    "name": "Bmp-2",
                    "type": "synonym"
                },
                {
                    "name": "Bmp2a",
                    "type": "synonym"
                },
                {
                    "name": "Bmp2",
                    "type": "synonym"
                }
            ],
            "record_id": "P21274-1",
            "evidence": [
                {
                    "id": "0060989",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060989"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12643-1",
            "uniprot_ac": "P12643",
            "uniprot_id": "BMP2_HUMAN",
            "refseq_ac": "NP_001191",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bone morphogenetic protein 2",
                    "type": "recommended"
                },
                {
                    "name": "BMP-2A",
                    "type": "synonym"
                },
                {
                    "name": "BMP-2",
                    "type": "synonym"
                },
                {
                    "name": "Bone morphogenetic protein 2A",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 2 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 2A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BMP2",
                    "type": "recommended"
                },
                {
                    "name": "BDA2",
                    "type": "synonym"
                },
                {
                    "name": "BMP2A",
                    "type": "synonym"
                },
                {
                    "name": "BMP2",
                    "type": "synonym"
                },
                {
                    "name": "SSFSC1",
                    "type": "synonym"
                },
                {
                    "name": "SSFSC",
                    "type": "synonym"
                }
            ],
            "record_id": "P12643-1",
            "evidence": [
                {
                    "id": "617877",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617877"
                },
                {
                    "id": "0060989",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060989"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49001-1",
            "uniprot_ac": "P49001",
            "uniprot_id": "BMP2_RAT",
            "refseq_ac": "NP_058874",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bone morphogenetic protein 2",
                    "type": "recommended"
                },
                {
                    "name": "BMP-2A",
                    "type": "synonym"
                },
                {
                    "name": "BMP-2",
                    "type": "synonym"
                },
                {
                    "name": "Bone morphogenetic protein 2A",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 2A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bmp2",
                    "type": "recommended"
                },
                {
                    "name": "Bmp-2",
                    "type": "synonym"
                },
                {
                    "name": "Bmp2",
                    "type": "synonym"
                }
            ],
            "record_id": "P49001-1",
            "evidence": [
                {
                    "id": "0060989",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060989"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07713-1",
            "uniprot_ac": "P07713",
            "uniprot_id": "DECA_DROME",
            "refseq_ac": "NP_477311",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein decapentaplegic",
                    "type": "recommended"
                },
                {
                    "name": "CG9885-PA",
                    "type": "synonym"
                },
                {
                    "name": "Decapentaplegic/Bone morphogenetic protein",
                    "type": "synonym"
                },
                {
                    "name": "Haplo-insufficient",
                    "type": "synonym"
                },
                {
                    "name": "Protein DPP-C",
                    "type": "synonym"
                },
                {
                    "name": "blink",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenic protein",
                    "type": "synonym"
                },
                {
                    "name": "decapentaplegic, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "decapentaplegic",
                    "type": "synonym"
                },
                {
                    "name": "dpp-PA",
                    "type": "synonym"
                },
                {
                    "name": "heldout",
                    "type": "synonym"
                },
                {
                    "name": "shortvein",
                    "type": "synonym"
                },
                {
                    "name": "tegula",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dpp",
                    "type": "recommended"
                },
                {
                    "name": "BMP",
                    "type": "synonym"
                },
                {
                    "name": "Bmp",
                    "type": "synonym"
                },
                {
                    "name": "CG9885",
                    "type": "synonym"
                },
                {
                    "name": "DPP-C",
                    "type": "synonym"
                },
                {
                    "name": "DPP",
                    "type": "synonym"
                },
                {
                    "name": "Dm-DPP",
                    "type": "synonym"
                },
                {
                    "name": "DmDPP",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9885",
                    "type": "synonym"
                },
                {
                    "name": "Dpp/TGFbeta",
                    "type": "synonym"
                },
                {
                    "name": "Dpp",
                    "type": "synonym"
                },
                {
                    "name": "Hin-d",
                    "type": "synonym"
                },
                {
                    "name": "M(2)23AB",
                    "type": "synonym"
                },
                {
                    "name": "M(2)LS1",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta",
                    "type": "synonym"
                },
                {
                    "name": "TGF-b",
                    "type": "synonym"
                },
                {
                    "name": "TGFbeta",
                    "type": "synonym"
                },
                {
                    "name": "Tgfbeta",
                    "type": "synonym"
                },
                {
                    "name": "Tg",
                    "type": "synonym"
                },
                {
                    "name": "blk",
                    "type": "synonym"
                },
                {
                    "name": "dpp",
                    "type": "synonym"
                },
                {
                    "name": "ho",
                    "type": "synonym"
                },
                {
                    "name": "l(2)10638",
                    "type": "synonym"
                },
                {
                    "name": "l(2)22Fa",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k17036",
                    "type": "synonym"
                },
                {
                    "name": "shv",
                    "type": "synonym"
                }
            ],
            "record_id": "P07713-1",
            "evidence": [
                {
                    "id": "0060989",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060989"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12109-1",
            "uniprot_ac": "P12109",
            "uniprot_id": "CO6A1_HUMAN",
            "refseq_ac": "NP_001839",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-1(VI) chain",
                    "type": "recommended"
                },
                {
                    "name": "alpha 1 (VI) chain (61 AA)",
                    "type": "synonym"
                },
                {
                    "name": "collagen VI, alpha-1 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(VI) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-1(VI) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type VI, alpha 1",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL6A1",
                    "type": "recommended"
                },
                {
                    "name": "BTHLM1A",
                    "type": "synonym"
                },
                {
                    "name": "BTHLM1",
                    "type": "synonym"
                },
                {
                    "name": "COL6A1",
                    "type": "synonym"
                },
                {
                    "name": "OPLL",
                    "type": "synonym"
                },
                {
                    "name": "UCHMD1A",
                    "type": "synonym"
                },
                {
                    "name": "UCHMD1",
                    "type": "synonym"
                }
            ],
            "record_id": "P12109-1",
            "evidence": [
                {
                    "id": "0060989",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060989"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060989"
}