{
    "disease_id": "DOID:0111726",
    "recommended_name": {
        "id": "DOID:0111726",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111726",
        "name": "geleophysic dysplasia 2",
        "description": "A geleophysic dysplasia that has_material_basis_in heterozygous mutation in exon 41 or 42 of the FBN1 gene on chromosome 15q21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111726",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111726",
            "name": "GPHYSD2",
            "description": ""
        },
        {
            "id": "MONDO:0013612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013612",
            "name": "geleophysic dysplasia 2",
            "description": "Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene."
        },
        {
            "id": "MONDO:0013612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013612",
            "name": "FBN1 geleophysic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0013612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013612",
            "name": "Geleophysic dysplasia 2",
            "description": ""
        },
        {
            "id": "MONDO:0013612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013612",
            "name": "Geleophysic dysplasia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013612",
            "name": "geleophysic dysplasia caused by mutation in FBN1",
            "description": ""
        },
        {
            "id": "MONDO:0013612",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013612",
            "name": "GPHYSD2",
            "description": ""
        },
        {
            "id": "MIM:614185",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614185",
            "name": "Geleophysic dysplasia 2",
            "description": "Geleophysic dysplasia 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111726"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111726",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111726",
            "categories": []
        },
        {
            "id": "MONDO:0013612",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013612",
            "categories": []
        },
        {
            "id": "MIM:614185",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614185",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q61554-1",
            "uniprot_ac": "Q61554",
            "uniprot_id": "FBN1_MOUSE",
            "refseq_ac": "NP_032019",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibrillin-1",
                    "type": "recommended"
                },
                {
                    "name": "fibrillin-1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "tight skin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fbn1",
                    "type": "recommended"
                },
                {
                    "name": "B430209H23",
                    "type": "synonym"
                },
                {
                    "name": "Fbn-1",
                    "type": "synonym"
                },
                {
                    "name": "Fbn1",
                    "type": "synonym"
                },
                {
                    "name": "Fib-1",
                    "type": "synonym"
                },
                {
                    "name": "Tsk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61554-1",
            "evidence": [
                {
                    "id": "0111726",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111726"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35555-1",
            "uniprot_ac": "P35555",
            "uniprot_id": "FBN1_HUMAN",
            "refseq_ac": "NP_000129",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibrillin-1",
                    "type": "recommended"
                },
                {
                    "name": "asprosin",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "fibrillin 15",
                    "type": "synonym"
                },
                {
                    "name": "fibrillin-1 isoform a preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "fibrillin-1 preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FBN1",
                    "type": "recommended"
                },
                {
                    "name": "ACMICD",
                    "type": "synonym"
                },
                {
                    "name": "ECTOL1",
                    "type": "synonym"
                },
                {
                    "name": "FBN1",
                    "type": "synonym"
                },
                {
                    "name": "FBN",
                    "type": "synonym"
                },
                {
                    "name": "GPHYSD2",
                    "type": "synonym"
                },
                {
                    "name": "MASS",
                    "type": "synonym"
                },
                {
                    "name": "MFLS",
                    "type": "synonym"
                },
                {
                    "name": "MFS1",
                    "type": "synonym"
                },
                {
                    "name": "OCTD",
                    "type": "synonym"
                },
                {
                    "name": "SGS",
                    "type": "synonym"
                },
                {
                    "name": "SSKS",
                    "type": "synonym"
                },
                {
                    "name": "WMS2",
                    "type": "synonym"
                },
                {
                    "name": "WMS",
                    "type": "synonym"
                }
            ],
            "record_id": "P35555-1",
            "evidence": [
                {
                    "id": "614185",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614185"
                },
                {
                    "id": "0111726",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111726"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V9M6-1",
            "uniprot_ac": "G3V9M6",
            "uniprot_id": "G3V9M6_RAT",
            "refseq_ac": "NP_114013",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibrillin-1",
                    "type": "recommended"
                },
                {
                    "name": "fibrillin-1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fbn1",
                    "type": "recommended"
                },
                {
                    "name": "Fbn1",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V9M6-1",
            "evidence": [
                {
                    "id": "0111726",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111726"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111726"
}