{
    "disease_id": "DOID:0060912",
    "recommended_name": {
        "id": "DOID:0060912",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060912",
        "name": "craniosynostosis 7",
        "description": "A craniosynostosis characterized by skull deformity and the inability of the skull's growth to keep up with the developing brain that has_material_basis_in a weakly penetrant heterozygous mutation in the SMAD6 gene on chromosome 15q22, typically with the risk allele of a common variant near the BMP2 gene on chromosome 20p12, resulting in potential intracranial pressure elevation."
    },
    "synonyms": [
        {
            "id": "DOID:0060912",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060912",
            "name": "CRS7",
            "description": ""
        },
        {
            "id": "MONDO:0044315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044315",
            "name": "craniosynostosis 7",
            "description": "Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {1:Fitzpatrick, 2013}).nnFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM:123100)."
        },
        {
            "id": "MONDO:0044315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044315",
            "name": "craniosynostosis 7",
            "description": ""
        },
        {
            "id": "MONDO:0044315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044315",
            "name": "craniosynostosis 7, susceptibility to",
            "description": ""
        },
        {
            "id": "MONDO:0044315",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044315",
            "name": "CRS7",
            "description": ""
        },
        {
            "id": "MIM:617439",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617439",
            "name": "Craniosynostosis 7",
            "description": "Craniosynostosis 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060912"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060912",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060912",
            "categories": []
        },
        {
            "id": "MONDO:0044315",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044315",
            "categories": []
        },
        {
            "id": "MIM:617439",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617439",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1N6X6-1",
            "uniprot_ac": "A0A8M1N6X6",
            "uniprot_id": "A0A8M1N6X6_DANRE",
            "refseq_ac": "NP_001019981",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mothers against decapentaplegic homolog",
                    "type": "recommended"
                },
                {
                    "name": "MAD homolog 6",
                    "type": "synonym"
                },
                {
                    "name": "MAD homolog",
                    "type": "synonym"
                },
                {
                    "name": "Mothers against DPP homolog",
                    "type": "synonym"
                },
                {
                    "name": "SMAD family member",
                    "type": "synonym"
                },
                {
                    "name": "mothers against decapentaplegic homolog 6a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "smad6a",
                    "type": "recommended"
                },
                {
                    "name": "madh6",
                    "type": "synonym"
                },
                {
                    "name": "smad6a",
                    "type": "synonym"
                },
                {
                    "name": "smad6",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb22g05",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N6X6-1",
            "evidence": [
                {
                    "id": "0060912",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060912"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35182-1",
            "uniprot_ac": "O35182",
            "uniprot_id": "SMAD6_MOUSE",
            "refseq_ac": "NP_032568",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "SMAD family member 6",
                    "type": "recommended"
                },
                {
                    "name": "MAD homolog 6",
                    "type": "synonym"
                },
                {
                    "name": "Mad homolog 7",
                    "type": "synonym"
                },
                {
                    "name": "Mothers against DPP homolog 6",
                    "type": "synonym"
                },
                {
                    "name": "Mothers against decapentaplegic homolog 6",
                    "type": "synonym"
                },
                {
                    "name": "SMAD 6",
                    "type": "synonym"
                },
                {
                    "name": "SMAD family member 6",
                    "type": "synonym"
                },
                {
                    "name": "Smad 6",
                    "type": "synonym"
                },
                {
                    "name": "mad homolog 7",
                    "type": "synonym"
                },
                {
                    "name": "mothers against DPP homolog 6",
                    "type": "synonym"
                },
                {
                    "name": "mothers against decapentaplegic homolog 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smad6",
                    "type": "recommended"
                },
                {
                    "name": "Madh6",
                    "type": "synonym"
                },
                {
                    "name": "Madh7",
                    "type": "synonym"
                },
                {
                    "name": "Msmad6",
                    "type": "synonym"
                },
                {
                    "name": "Smad6",
                    "type": "synonym"
                },
                {
                    "name": "b2b390Clo",
                    "type": "synonym"
                }
            ],
            "record_id": "O35182-1",
            "evidence": [
                {
                    "id": "0060912",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060912"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43541-1",
            "uniprot_ac": "O43541",
            "uniprot_id": "SMAD6_HUMAN",
            "refseq_ac": "NP_005576",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SMAD family member 6",
                    "type": "recommended"
                },
                {
                    "name": "MAD homolog 6",
                    "type": "synonym"
                },
                {
                    "name": "Mothers against DPP homolog 6",
                    "type": "synonym"
                },
                {
                    "name": "Mothers against decapentaplegic homolog 6",
                    "type": "synonym"
                },
                {
                    "name": "SMAD 6",
                    "type": "synonym"
                },
                {
                    "name": "SMAD family member 6",
                    "type": "synonym"
                },
                {
                    "name": "SMAD, mothers against DPP homolog 6",
                    "type": "synonym"
                },
                {
                    "name": "hSMAD6",
                    "type": "synonym"
                },
                {
                    "name": "mothers against decapentaplegic homolog 6",
                    "type": "synonym"
                },
                {
                    "name": "mothers against decapentaplegic, drosophila, homolog of, 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SMAD6",
                    "type": "recommended"
                },
                {
                    "name": "AOVD2",
                    "type": "synonym"
                },
                {
                    "name": "HsT17432",
                    "type": "synonym"
                },
                {
                    "name": "MADH6",
                    "type": "synonym"
                },
                {
                    "name": "MADH7",
                    "type": "synonym"
                },
                {
                    "name": "SMAD6",
                    "type": "synonym"
                }
            ],
            "record_id": "O43541-1",
            "evidence": [
                {
                    "id": "617439",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617439"
                },
                {
                    "id": "0060912",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060912"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZAQ2-1",
            "uniprot_ac": "D3ZAQ2",
            "uniprot_id": "D3ZAQ2_RAT",
            "refseq_ac": "NP_001102472",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mothers against decapentaplegic homolog",
                    "type": "recommended"
                },
                {
                    "name": "MAD homolog 6",
                    "type": "synonym"
                },
                {
                    "name": "MAD homolog",
                    "type": "synonym"
                },
                {
                    "name": "Mothers against DPP homolog",
                    "type": "synonym"
                },
                {
                    "name": "SMAD family member",
                    "type": "synonym"
                },
                {
                    "name": "mothers against decapentaplegic homolog 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smad6",
                    "type": "recommended"
                },
                {
                    "name": "Smad6",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZAQ2-1",
            "evidence": [
                {
                    "id": "0060912",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060912"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A6H2EEY2-1",
            "uniprot_ac": "A0A6H2EEY2",
            "uniprot_id": "A0A6H2EEY2_DROME",
            "refseq_ac": "NP_001369021",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mothers against decapentaplegic homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG5201-PD",
                    "type": "synonym"
                },
                {
                    "name": "Dad-PD",
                    "type": "synonym"
                },
                {
                    "name": "MAD homolog",
                    "type": "synonym"
                },
                {
                    "name": "Mothers against DPP homolog",
                    "type": "synonym"
                },
                {
                    "name": "SMAD family member",
                    "type": "synonym"
                },
                {
                    "name": "anon-fast-evolving-1F5",
                    "type": "synonym"
                },
                {
                    "name": "daughter against dpp",
                    "type": "synonym"
                },
                {
                    "name": "daughters against Dpp",
                    "type": "synonym"
                },
                {
                    "name": "daughters against dpp, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dad",
                    "type": "recommended"
                },
                {
                    "name": "1883",
                    "type": "synonym"
                },
                {
                    "name": "CG5201",
                    "type": "synonym"
                },
                {
                    "name": "DAD",
                    "type": "synonym"
                },
                {
                    "name": "Dad",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5201",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5201",
                    "type": "synonym"
                },
                {
                    "name": "EP(3)3196",
                    "type": "synonym"
                },
                {
                    "name": "EP3196",
                    "type": "synonym"
                },
                {
                    "name": "Smad7",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:fe1F5",
                    "type": "synonym"
                },
                {
                    "name": "dad",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j1E4",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A6H2EEY2-1",
            "evidence": [
                {
                    "id": "0060912",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060912"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060912"
}