{
    "disease_id": "DOID:0080844",
    "recommended_name": {
        "id": "DOID:0080844",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080844",
        "name": "omodysplasia 1",
        "description": "An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the GPC6 gene on chromosome 13q32."
    },
    "synonyms": [
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "autosomal recessive omodysplasia",
            "description": "Autosomal recessive form of omodysplasia."
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "autosomal recessive omodysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "micromelic dysplasia-dislocation of radius syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "omodysplasia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "omodysplasia, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "OMOD1",
            "description": ""
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "micromelic dysplasia congenita with dislocation of radius",
            "description": ""
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "omodysplasia 1",
            "description": ""
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "omodysplasia autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "omodysplasia generalised form",
            "description": ""
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "omodysplasia generalized form",
            "description": ""
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "omodysplasia, generalised form",
            "description": ""
        },
        {
            "id": "MIM:258315",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/258315",
            "name": "Omodysplasia 1",
            "description": "Omodysplasia 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080844"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080844",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080844",
            "categories": []
        },
        {
            "id": "MONDO:0009779",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "categories": []
        },
        {
            "id": "MIM:258315",
            "database": "MIM",
            "url": "https://www.omim.org/entry/258315",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9Q7F3-1",
            "uniprot_ac": "A0A8M9Q7F3",
            "uniprot_id": "A0A8M9Q7F3_DANRE",
            "refseq_ac": "XP_021331406",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glypican-6a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "glypican-6a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gpc6a",
                    "type": "recommended"
                },
                {
                    "name": "gpc6a",
                    "type": "synonym"
                },
                {
                    "name": "si:ch1073-86a3.1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:171629",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9Q7F3-1",
            "evidence": [
                {
                    "id": "0080844",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080844"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R087-1",
            "uniprot_ac": "Q9R087",
            "uniprot_id": "GPC6_MOUSE",
            "refseq_ac": "NP_035951",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glypican-6",
                    "type": "recommended"
                },
                {
                    "name": "glypican-6 isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gpc6",
                    "type": "recommended"
                },
                {
                    "name": "Gpc6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R087-1",
            "evidence": [
                {
                    "id": "0080844",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080844"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y625-1",
            "uniprot_ac": "Q9Y625",
            "uniprot_id": "GPC6_HUMAN",
            "refseq_ac": "NP_005699",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glypican-6",
                    "type": "recommended"
                },
                {
                    "name": "glypican proteoglycan 6",
                    "type": "synonym"
                },
                {
                    "name": "glypican-6 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GPC6",
                    "type": "recommended"
                },
                {
                    "name": "GPC6",
                    "type": "synonym"
                },
                {
                    "name": "OMIMD1",
                    "type": "synonym"
                },
                {
                    "name": "PRO705",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y625-1",
            "evidence": [
                {
                    "id": "258315",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/258315"
                },
                {
                    "id": "0080844",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080844"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A096MJY1-1",
            "uniprot_ac": "A0A096MJY1",
            "uniprot_id": "A0A096MJY1_RAT",
            "refseq_ac": "NP_001414362",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glypican 6",
                    "type": "synonym"
                },
                {
                    "name": "glypican-6 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gpc6",
                    "type": "recommended"
                },
                {
                    "name": "ENSRNOG00000062503",
                    "type": "synonym"
                },
                {
                    "name": "Gpc6",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A096MJY1-1",
            "evidence": [
                {
                    "id": "0080844",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080844"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VUG1-1",
            "uniprot_ac": "Q9VUG1",
            "uniprot_id": "Q9VUG1_DROME",
            "refseq_ac": "NP_524071",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG32146-PA",
                    "type": "synonym"
                },
                {
                    "name": "D-glypican B",
                    "type": "synonym"
                },
                {
                    "name": "Dally-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Dally-like, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "dally-like, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "dallylike",
                    "type": "synonym"
                },
                {
                    "name": "dlp-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dlp",
                    "type": "recommended"
                },
                {
                    "name": "CG17703",
                    "type": "synonym"
                },
                {
                    "name": "CG32146",
                    "type": "synonym"
                },
                {
                    "name": "CG5031",
                    "type": "synonym"
                },
                {
                    "name": "CT16138",
                    "type": "synonym"
                },
                {
                    "name": "D-gpcB",
                    "type": "synonym"
                },
                {
                    "name": "DLP",
                    "type": "synonym"
                },
                {
                    "name": "Dally-like",
                    "type": "synonym"
                },
                {
                    "name": "Dlp",
                    "type": "synonym"
                },
                {
                    "name": "Dly",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32146",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32146",
                    "type": "synonym"
                },
                {
                    "name": "dlp",
                    "type": "synonym"
                },
                {
                    "name": "dly",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VUG1-1",
            "evidence": [
                {
                    "id": "0080844",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080844"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080844"
}