{
    "disease_id": "DOID:0111407",
    "recommended_name": {
        "id": "DOID:0111407",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111407",
        "name": "Fraser syndrome 2",
        "description": "A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FREM2 gene on chromosome 13q13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111407",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111407",
            "name": "FRASRS2",
            "description": ""
        },
        {
            "id": "MONDO:0054738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054738",
            "name": "Fraser syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0054738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054738",
            "name": "Fraser syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0054738",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054738",
            "name": "FRASRS2",
            "description": ""
        },
        {
            "id": "MIM:617666",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617666",
            "name": "Fraser syndrome 2",
            "description": "Fraser syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111407"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111407",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111407",
            "categories": []
        },
        {
            "id": "MONDO:0054738",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054738",
            "categories": []
        },
        {
            "id": "MIM:617666",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617666",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B5C5-1",
            "uniprot_ac": "A0ACD6B5C5",
            "uniprot_id": "A0ACD6B5C5_DANRE",
            "refseq_ac": "XP_005155437",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "FRAS1-related extracellular matrix protein 2a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "frem2a",
                    "type": "recommended"
                },
                {
                    "name": "bla",
                    "type": "synonym"
                },
                {
                    "name": "frem2a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B5C5-1",
            "evidence": [
                {
                    "id": "0111407",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111407"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6NVD0-1",
            "uniprot_ac": "Q6NVD0",
            "uniprot_id": "FREM2_MOUSE",
            "refseq_ac": "NP_766450",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "FRAS1-related extracellular matrix protein 2",
                    "type": "recommended"
                },
                {
                    "name": "ECM3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "FRAS1-related extracellular matrix protein 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "FRAS1-related extracellular matrix protein 2",
                    "type": "synonym"
                },
                {
                    "name": "NV domain containing protein NV1",
                    "type": "synonym"
                },
                {
                    "name": "NV domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Frem2",
                    "type": "recommended"
                },
                {
                    "name": "6030440P17Rik",
                    "type": "synonym"
                },
                {
                    "name": "8430406N05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Frem2",
                    "type": "synonym"
                },
                {
                    "name": "Gm409",
                    "type": "synonym"
                },
                {
                    "name": "Nv1",
                    "type": "synonym"
                },
                {
                    "name": "b2b1562Clo",
                    "type": "synonym"
                },
                {
                    "name": "my",
                    "type": "synonym"
                },
                {
                    "name": "ne",
                    "type": "synonym"
                },
                {
                    "name": "nv1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NVD0-1",
            "evidence": [
                {
                    "id": "0111407",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111407"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5SZK8-1",
            "uniprot_ac": "Q5SZK8",
            "uniprot_id": "FREM2_HUMAN",
            "refseq_ac": "NP_997244",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "FRAS1-related extracellular matrix protein 2",
                    "type": "recommended"
                },
                {
                    "name": "ECM3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "FRAS1 related extracellular matrix protein 2",
                    "type": "synonym"
                },
                {
                    "name": "FRAS1-related extracellular matrix protein 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FREM2",
                    "type": "recommended"
                },
                {
                    "name": "CRYPTOP",
                    "type": "synonym"
                },
                {
                    "name": "FRASRS2",
                    "type": "synonym"
                },
                {
                    "name": "FREM2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5SZK8-1",
            "evidence": [
                {
                    "id": "617666",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617666"
                },
                {
                    "id": "0111407",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111407"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZG74-1",
            "uniprot_ac": "D3ZG74",
            "uniprot_id": "D3ZG74_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": "FRAS1-related extracellular matrix protein 2",
                    "type": "recommended"
                },
                {
                    "name": "ECM3 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Frem2",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZG74-1",
            "evidence": [
                {
                    "id": "0111407",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111407"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111407"
}