{
    "disease_id": "DOID:0061294",
    "recommended_name": {
        "id": "DOID:0061294",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061294",
        "name": "Meckel syndrome 9",
        "description": "A Meckel syndrome that has_material_basis_in compound heterozygous mutation in the B9D1 gene on chromosome 17p11.2."
    },
    "synonyms": [
        {
            "id": "MONDO:0013630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013630",
            "name": "Meckel syndrome, type 9",
            "description": "Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene."
        },
        {
            "id": "MONDO:0013630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013630",
            "name": "B9D1 Meckel syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013630",
            "name": "Meckel syndrome caused by mutation in B9D1",
            "description": ""
        },
        {
            "id": "MONDO:0013630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013630",
            "name": "Meckel syndrome, type 9",
            "description": ""
        },
        {
            "id": "MONDO:0013630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013630",
            "name": "meckel syndrome 9",
            "description": ""
        },
        {
            "id": "MONDO:0013630",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013630",
            "name": "MKS9",
            "description": ""
        },
        {
            "id": "MIM:614209",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614209",
            "name": "Meckel syndrome 9",
            "description": "Meckel syndrome 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061294"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061294",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061294",
            "categories": []
        },
        {
            "id": "MONDO:0013630",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013630",
            "categories": []
        },
        {
            "id": "MIM:614209",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614209",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9UPM9-1",
            "uniprot_ac": "Q9UPM9",
            "uniprot_id": "B9D1_HUMAN",
            "refseq_ac": "NP_001308145",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "B9 domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "B9 domain-containing protein 1 isoform f",
                    "type": "synonym"
                },
                {
                    "name": "B9 domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "B9 protein domain 1",
                    "type": "synonym"
                },
                {
                    "name": "MKS1-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "endothelial precursor protein B9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "B9D1",
                    "type": "recommended"
                },
                {
                    "name": "B9D1",
                    "type": "synonym"
                },
                {
                    "name": "B9",
                    "type": "synonym"
                },
                {
                    "name": "EPPB9",
                    "type": "synonym"
                },
                {
                    "name": "JBTS27",
                    "type": "synonym"
                },
                {
                    "name": "MKS9",
                    "type": "synonym"
                },
                {
                    "name": "MKSR-1",
                    "type": "synonym"
                },
                {
                    "name": "MKSR1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UPM9-1",
            "evidence": [
                {
                    "id": "614209",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614209"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061294"
}