{
    "disease_id": "DOID:0060993",
    "recommended_name": {
        "id": "DOID:0060993",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060993",
        "name": "bent bone dysplasia syndrome 2",
        "description": "A bone remodeling disease characterized by defects in both the axial and appendicular skeleton, with radiographic findings of undermineralized bone and a distinct angulation of the mid femoral shaft that has_material_basis_incompound heterozygous mutation in the LAMA5 gene on chromosome 20q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0859573",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859573",
            "name": "bent bone dysplasia syndrome 2",
            "description": ""
        },
        {
            "id": "MIM:620076",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620076",
            "name": "Bent bone dysplasia syndrome 2",
            "description": "Bent bone dysplasia syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060993"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060993",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060993",
            "categories": []
        },
        {
            "id": "MONDO:0859573",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859573",
            "categories": []
        },
        {
            "id": "MIM:620076",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620076",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q61001-1",
            "uniprot_ac": "Q61001",
            "uniprot_id": "LAMA5_MOUSE",
            "refseq_ac": "NP_001074640",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Laminin subunit alpha-5",
                    "type": "recommended"
                },
                {
                    "name": "Laminin-10 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-11 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-15 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "laminin subunit alpha-5 precursor",
                    "type": "synonym"
                },
                {
                    "name": "laminin subunit alpha-5",
                    "type": "synonym"
                },
                {
                    "name": "laminin-10 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "laminin-11 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "laminin-15 subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lama5",
                    "type": "recommended"
                },
                {
                    "name": "Lama5",
                    "type": "synonym"
                },
                {
                    "name": "[a]5",
                    "type": "synonym"
                },
                {
                    "name": "laminin-511",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0533",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61001-1",
            "evidence": [
                {
                    "id": "0060993",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060993"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15230-1",
            "uniprot_ac": "O15230",
            "uniprot_id": "LAMA5_HUMAN",
            "refseq_ac": "NP_005551",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Laminin subunit alpha-5",
                    "type": "recommended"
                },
                {
                    "name": "Laminin-10 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-11 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-15 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "laminin alpha-5 chain",
                    "type": "synonym"
                },
                {
                    "name": "laminin alpha5-chain",
                    "type": "synonym"
                },
                {
                    "name": "laminin subunit alpha-5 precursor",
                    "type": "synonym"
                },
                {
                    "name": "laminin-10 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "laminin-11 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "laminin-15 subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LAMA5",
                    "type": "recommended"
                },
                {
                    "name": "BBDS2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0533",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1907",
                    "type": "synonym"
                },
                {
                    "name": "LAMA5",
                    "type": "synonym"
                },
                {
                    "name": "NPHS26",
                    "type": "synonym"
                }
            ],
            "record_id": "O15230-1",
            "evidence": [
                {
                    "id": "620076",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620076"
                },
                {
                    "id": "0060993",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060993"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1MAN8-1",
            "uniprot_ac": "F1MAN8",
            "uniprot_id": "F1MAN8_RAT",
            "refseq_ac": "NP_001178538",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Laminin subunit alpha-5",
                    "type": "recommended"
                },
                {
                    "name": "Laminin-10 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-11 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-15 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "laminin subunit alpha-5 precursor",
                    "type": "synonym"
                },
                {
                    "name": "laminin, alpha 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lama5",
                    "type": "recommended"
                },
                {
                    "name": "Lama5",
                    "type": "synonym"
                }
            ],
            "record_id": "F1MAN8-1",
            "evidence": [
                {
                    "id": "0060993",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060993"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00174-1",
            "uniprot_ac": "Q00174",
            "uniprot_id": "LAMA_DROME",
            "refseq_ac": "NP_476617",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Laminin subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "CG10236-PA",
                    "type": "synonym"
                },
                {
                    "name": "Laminin A chain",
                    "type": "synonym"
                },
                {
                    "name": "LanA-PA",
                    "type": "synonym"
                },
                {
                    "name": "alpha3,5 laminin",
                    "type": "synonym"
                },
                {
                    "name": "headline",
                    "type": "synonym"
                },
                {
                    "name": "laminin A chain",
                    "type": "synonym"
                },
                {
                    "name": "laminin A subunit",
                    "type": "synonym"
                },
                {
                    "name": "laminin A5",
                    "type": "synonym"
                },
                {
                    "name": "laminin A",
                    "type": "synonym"
                },
                {
                    "name": "laminin alpha-chain",
                    "type": "synonym"
                },
                {
                    "name": "laminin alpha3,5",
                    "type": "synonym"
                },
                {
                    "name": "laminin alpha[[3,5]]",
                    "type": "synonym"
                },
                {
                    "name": "lamininA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LanA",
                    "type": "recommended"
                },
                {
                    "name": "5]]",
                    "type": "synonym"
                },
                {
                    "name": "CG10236",
                    "type": "synonym"
                },
                {
                    "name": "CT28769",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10236",
                    "type": "synonym"
                },
                {
                    "name": "FBgn0002526",
                    "type": "synonym"
                },
                {
                    "name": "FBtr0077014",
                    "type": "synonym"
                },
                {
                    "name": "LM-A/alpha1",
                    "type": "synonym"
                },
                {
                    "name": "LMalpha1",
                    "type": "synonym"
                },
                {
                    "name": "Lam-A",
                    "type": "synonym"
                },
                {
                    "name": "LamA",
                    "type": "synonym"
                },
                {
                    "name": "Laminin",
                    "type": "synonym"
                },
                {
                    "name": "Lam",
                    "type": "synonym"
                },
                {
                    "name": "LanA",
                    "type": "synonym"
                },
                {
                    "name": "Lan",
                    "type": "synonym"
                },
                {
                    "name": "alpha3/5",
                    "type": "synonym"
                },
                {
                    "name": "alpha[[3",
                    "type": "synonym"
                },
                {
                    "name": "hdln",
                    "type": "synonym"
                },
                {
                    "name": "lamA",
                    "type": "synonym"
                },
                {
                    "name": "laminin alpha3/5",
                    "type": "synonym"
                },
                {
                    "name": "lanA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00174-1",
            "evidence": [
                {
                    "id": "0060993",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060993"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060993"
}