{
    "disease_id": "DOID:0111725",
    "recommended_name": {
        "id": "DOID:0111725",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111725",
        "name": "geleophysic dysplasia 1",
        "description": "A geleophysic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL2 gene on chromosome 9q34.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111725",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111725",
            "name": "GPHYSD1",
            "description": ""
        },
        {
            "id": "MONDO:0009269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009269",
            "name": "geleophysic dysplasia 1",
            "description": "Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene."
        },
        {
            "id": "MONDO:0009269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009269",
            "name": "ADAMTSL2 geleophysic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009269",
            "name": "Geleophysic dysplasia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009269",
            "name": "geleophysic dysplasia 1",
            "description": ""
        },
        {
            "id": "MONDO:0009269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009269",
            "name": "geleophysic dysplasia caused by mutation in ADAMTSL2",
            "description": ""
        },
        {
            "id": "MONDO:0009269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009269",
            "name": "GPHYSD1",
            "description": ""
        },
        {
            "id": "MIM:231050",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/231050",
            "name": "Geleophysic dysplasia 1",
            "description": "Geleophysic dysplasia 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111725"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111725",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111725",
            "categories": []
        },
        {
            "id": "MONDO:0009269",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009269",
            "categories": []
        },
        {
            "id": "MIM:231050",
            "database": "MIM",
            "url": "https://www.omim.org/entry/231050",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7TSK7-1",
            "uniprot_ac": "Q7TSK7",
            "uniprot_id": "ATL2_MOUSE",
            "refseq_ac": "NP_084257",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ADAMTS-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "ADAMTS-like protein 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "ADAMTS-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "ADAMTSL-2",
                    "type": "synonym"
                },
                {
                    "name": "TCP-1",
                    "type": "synonym"
                },
                {
                    "name": "TSP1-repeat-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "TSP1-repeats-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adamtsl2",
                    "type": "recommended"
                },
                {
                    "name": "A930008K15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Adamtsl2",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0605",
                    "type": "synonym"
                },
                {
                    "name": "Tcp1",
                    "type": "synonym"
                },
                {
                    "name": "tcp-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TSK7-1",
            "evidence": [
                {
                    "id": "0111725",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111725"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86TH1-1",
            "uniprot_ac": "Q86TH1",
            "uniprot_id": "ATL2_HUMAN",
            "refseq_ac": "NP_001138792",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ADAMTS-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "ADAMTS-like protein 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "ADAMTS-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "ADAMTSL-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ADAMTSL2",
                    "type": "recommended"
                },
                {
                    "name": "ADAMTSL-2",
                    "type": "synonym"
                },
                {
                    "name": "ADAMTSL2",
                    "type": "synonym"
                },
                {
                    "name": "GPHYSD1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0605",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86TH1-1",
            "evidence": [
                {
                    "id": "231050",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/231050"
                },
                {
                    "id": "0111725",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111725"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A4X6-1",
            "uniprot_ac": "D4A4X6",
            "uniprot_id": "D4A4X6_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": "ADAMTS-like protein 2",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Adamtsl2",
                    "type": "recommended"
                }
            ],
            "record_id": "D4A4X6-1",
            "evidence": [
                {
                    "id": "0111725",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111725"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111725"
}