{
    "disease_id": "DOID:0070299",
    "recommended_name": {
        "id": "DOID:0070299",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070299",
        "name": "multiple epiphyseal dysplasia 5",
        "description": "A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24."
    },
    "synonyms": [
        {
            "id": "DOID:0070299",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070299",
            "name": "BHMED",
            "description": ""
        },
        {
            "id": "DOID:0070299",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070299",
            "name": "EDM5",
            "description": ""
        },
        {
            "id": "DOID:0070299",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070299",
            "name": "bilateral hereditary microepiphyseal dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0070299",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070299",
            "name": "multiple epiphyseal dysplasia MATN3-related",
            "description": ""
        },
        {
            "id": "MONDO:0011765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011765",
            "name": "multiple epiphyseal dysplasia type 5",
            "description": "Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission."
        },
        {
            "id": "MONDO:0011765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011765",
            "name": "BHMED",
            "description": ""
        },
        {
            "id": "MONDO:0011765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011765",
            "name": "EDM5",
            "description": ""
        },
        {
            "id": "MONDO:0011765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011765",
            "name": "MATN3 multiple epiphyseal dysplasia (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0011765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011765",
            "name": "MED5",
            "description": ""
        },
        {
            "id": "MONDO:0011765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011765",
            "name": "Polyepiphyseal dysplasia type 5",
            "description": ""
        },
        {
            "id": "MONDO:0011765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011765",
            "name": "bilateral hereditary micro-epiphyseal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0011765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011765",
            "name": "epiphyseal dysplasia, multiple, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0011765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011765",
            "name": "multiple epiphyseal dysplasia (disease) caused by mutation in MATN3",
            "description": ""
        },
        {
            "id": "MONDO:0011765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011765",
            "name": "epiphyseal dysplasia multiple 5",
            "description": ""
        },
        {
            "id": "MONDO:0011765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011765",
            "name": "epiphyseal dysplasia, multiple, 5",
            "description": ""
        },
        {
            "id": "MONDO:0011765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011765",
            "name": "multiple epiphyseal dysplasia 5",
            "description": ""
        },
        {
            "id": "MONDO:0011765",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011765",
            "name": "multiple epiphyseal dysplasia, MATN3 related",
            "description": ""
        },
        {
            "id": "MIM:607078",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607078",
            "name": "Multiple epiphyseal dysplasia 5",
            "description": "Multiple epiphyseal dysplasia 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070299"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070299",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070299",
            "categories": []
        },
        {
            "id": "MONDO:0011765",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011765",
            "categories": []
        },
        {
            "id": "MIM:607078",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607078",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q68EK6-1",
            "uniprot_ac": "Q68EK6",
            "uniprot_id": "Q68EK6_DANRE",
            "refseq_ac": "NP_001004007",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Matrilin-3a isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "Matrilin-3a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "matrilin-3a isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "matn3a",
                    "type": "recommended"
                },
                {
                    "name": "matn3a",
                    "type": "synonym"
                },
                {
                    "name": "ns:zf-e359",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-50f7.4",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101120",
                    "type": "synonym"
                }
            ],
            "record_id": "Q68EK6-1",
            "evidence": [
                {
                    "id": "0070299",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070299"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35701-1",
            "uniprot_ac": "O35701",
            "uniprot_id": "MATN3_MOUSE",
            "refseq_ac": "NP_034900",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Matrilin-3",
                    "type": "recommended"
                },
                {
                    "name": "matrilin-3 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Matn3",
                    "type": "recommended"
                },
                {
                    "name": "Matn3",
                    "type": "synonym"
                }
            ],
            "record_id": "O35701-1",
            "evidence": [
                {
                    "id": "0070299",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070299"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15232-1",
            "uniprot_ac": "O15232",
            "uniprot_id": "MATN3_HUMAN",
            "refseq_ac": "NP_002372",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Matrilin-3",
                    "type": "recommended"
                },
                {
                    "name": "matrilin-3 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MATN3",
                    "type": "recommended"
                },
                {
                    "name": "DIPOA",
                    "type": "synonym"
                },
                {
                    "name": "EDM5",
                    "type": "synonym"
                },
                {
                    "name": "HOA",
                    "type": "synonym"
                },
                {
                    "name": "MATN3",
                    "type": "synonym"
                },
                {
                    "name": "OADIP",
                    "type": "synonym"
                },
                {
                    "name": "OS2",
                    "type": "synonym"
                },
                {
                    "name": "SEMDBCD",
                    "type": "synonym"
                }
            ],
            "record_id": "O15232-1",
            "evidence": [
                {
                    "id": "607078",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607078"
                },
                {
                    "id": "0070299",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070299"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JYF9-1",
            "uniprot_ac": "A0A0G2JYF9",
            "uniprot_id": "A0A0G2JYF9_RAT",
            "refseq_ac": "NP_001382499",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Matrilin-3",
                    "type": "recommended"
                },
                {
                    "name": "matrilin-3 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Matn3",
                    "type": "recommended"
                },
                {
                    "name": "Matn3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JYF9-1",
            "evidence": [
                {
                    "id": "0070299",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070299"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070299"
}