{
    "disease_id": "DOID:0110639",
    "recommended_name": {
        "id": "DOID:0110639",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110639",
        "name": "congenital muscular dystrophy due to integrin alpha-7 deficiency",
        "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110639",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110639",
            "name": "congenital myopathy due to integrin alpha-7 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110639",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110639",
            "name": "congenital muscular dystrophy with ITGA7 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110639",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110639",
            "name": "congenital muscular dystrophy with integrin alpha-7 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013177",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013177",
            "name": "congenital muscular dystrophy due to integrin alpha-7 deficiency",
            "description": "Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency."
        },
        {
            "id": "MONDO:0013177",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013177",
            "name": "ITGA7 congenital muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0013177",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013177",
            "name": "congenital muscular dystrophy caused by mutation in ITGA7",
            "description": ""
        },
        {
            "id": "MONDO:0013177",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013177",
            "name": "congenital muscular dystrophy with ITGA7 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013177",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013177",
            "name": "congenital muscular dystrophy with integrin alpha-7 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013177",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013177",
            "name": "muscular dystrophy, congenital, due to ITGA7 deficiency",
            "description": ""
        },
        {
            "id": "MIM:613204",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613204",
            "name": "Muscular dystrophy congenital due to integrin alpha-7 deficiency",
            "description": "Muscular dystrophy congenital due to integrin alpha-7 deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110639"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110639",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110639",
            "categories": []
        },
        {
            "id": "MONDO:0013177",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013177",
            "categories": []
        },
        {
            "id": "MIM:613204",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613204",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q61738-1",
            "uniprot_ac": "Q61738",
            "uniprot_id": "ITA7_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integrin alpha-7",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Itga7",
                    "type": "recommended"
                }
            ],
            "record_id": "Q61738-1",
            "evidence": [
                {
                    "id": "0110639",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110639"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13683-1",
            "uniprot_ac": "Q13683",
            "uniprot_id": "ITA7_HUMAN",
            "refseq_ac": "NP_001138468",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integrin alpha-7",
                    "type": "recommended"
                },
                {
                    "name": "integrin alpha 7 chain",
                    "type": "synonym"
                },
                {
                    "name": "integrin alpha-7 isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ITGA7",
                    "type": "recommended"
                },
                {
                    "name": "ITGA7",
                    "type": "synonym"
                },
                {
                    "name": "PRO768",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13683-1",
            "evidence": [
                {
                    "id": "613204",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613204"
                },
                {
                    "id": "0110639",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110639"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63258-1",
            "uniprot_ac": "Q63258",
            "uniprot_id": "ITA7_RAT",
            "refseq_ac": "NP_110469",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integrin alpha-7",
                    "type": "recommended"
                },
                {
                    "name": "H36-alpha7",
                    "type": "synonym"
                },
                {
                    "name": "alpha 7A integrin",
                    "type": "synonym"
                },
                {
                    "name": "integrin alpha-7 isoform 4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "integrin alpha-7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Itga7",
                    "type": "recommended"
                },
                {
                    "name": "Itga7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63258-1",
            "evidence": [
                {
                    "id": "0110639",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110639"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24247-1",
            "uniprot_ac": "Q24247",
            "uniprot_id": "ITA1_DROME",
            "refseq_ac": "NP_001259503",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integrin alpha-PS1",
                    "type": "recommended"
                },
                {
                    "name": "CG1771-PE",
                    "type": "synonym"
                },
                {
                    "name": "PS I alpha",
                    "type": "synonym"
                },
                {
                    "name": "PS1 integrin",
                    "type": "synonym"
                },
                {
                    "name": "PS1-Integrin",
                    "type": "synonym"
                },
                {
                    "name": "Position-specific antigen subunit alpha-1",
                    "type": "synonym"
                },
                {
                    "name": "Position-specific-1 antigen",
                    "type": "synonym"
                },
                {
                    "name": "Position-specific-antigen-1alpha",
                    "type": "synonym"
                },
                {
                    "name": "Protein multiple edematous wings",
                    "type": "synonym"
                },
                {
                    "name": "alpha integrin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-PS1-integrin",
                    "type": "synonym"
                },
                {
                    "name": "alpha1 integrin subunit",
                    "type": "synonym"
                },
                {
                    "name": "alpha1 integrin",
                    "type": "synonym"
                },
                {
                    "name": "alphaPS integrin",
                    "type": "synonym"
                },
                {
                    "name": "alphaPS1 integrin",
                    "type": "synonym"
                },
                {
                    "name": "alpha[[PS1]] subunit of integrin",
                    "type": "synonym"
                },
                {
                    "name": "integrin PSII alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "integrin alpha PS1",
                    "type": "synonym"
                },
                {
                    "name": "integrin alphaPS1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "integrin alphaPS1",
                    "type": "synonym"
                },
                {
                    "name": "mew-PE",
                    "type": "synonym"
                },
                {
                    "name": "multiple edematous wings, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "multiple edematous wings",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mew",
                    "type": "recommended"
                },
                {
                    "name": "CG1771",
                    "type": "synonym"
                },
                {
                    "name": "CT5254",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1771",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1771",
                    "type": "synonym"
                },
                {
                    "name": "Integrin alpha PS1",
                    "type": "synonym"
                },
                {
                    "name": "ItgaPS1",
                    "type": "synonym"
                },
                {
                    "name": "Mew",
                    "type": "synonym"
                },
                {
                    "name": "PS1alpha",
                    "type": "synonym"
                },
                {
                    "name": "PS1",
                    "type": "synonym"
                },
                {
                    "name": "PSalpha1",
                    "type": "synonym"
                },
                {
                    "name": "aPS1",
                    "type": "synonym"
                },
                {
                    "name": "alpha integrin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-PS1",
                    "type": "synonym"
                },
                {
                    "name": "alpha1Int",
                    "type": "synonym"
                },
                {
                    "name": "alphaPS1",
                    "type": "synonym"
                },
                {
                    "name": "alpha[[PS1]]",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0429",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0443",
                    "type": "synonym"
                },
                {
                    "name": "mew",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24247-1",
            "evidence": [
                {
                    "id": "0110639",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110639"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110639"
}