{
    "disease_id": "DOID:0110636",
    "recommended_name": {
        "id": "DOID:0110636",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110636",
        "name": "congenital merosin-deficient muscular dystrophy 1A",
        "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110636",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110636",
            "name": "CMD1A",
            "description": ""
        },
        {
            "id": "DOID:0110636",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110636",
            "name": "MDC1A",
            "description": ""
        },
        {
            "id": "DOID:0110636",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110636",
            "name": "Merosin-negative congenital muscular dystrophy",
            "description": ""
        },
        {
            "id": "DOID:0110636",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110636",
            "name": "congenital muscular dystrophy due to laminin alpha2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011925",
            "name": "congenital merosin-deficient muscular dystrophy 1A",
            "description": "Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting."
        },
        {
            "id": "MONDO:0011925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011925",
            "name": "CMD1A",
            "description": ""
        },
        {
            "id": "MONDO:0011925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011925",
            "name": "LAMA2 congenital muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011925",
            "name": "MDC1A",
            "description": ""
        },
        {
            "id": "MONDO:0011925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011925",
            "name": "congenital merosin-deficient muscular dystrophy type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0011925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011925",
            "name": "congenital muscular dystrophy caused by mutation in LAMA2",
            "description": ""
        },
        {
            "id": "MONDO:0011925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011925",
            "name": "congenital muscular dystrophy due to laminin alpha2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011925",
            "name": "merosin-deficient congenital muscular dystrophy type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0011925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011925",
            "name": "merosin-negative congenital muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011925",
            "name": "muscular dystrophy, congenital merosin-deficient, type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0011925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011925",
            "name": "muscular dystrophy, congenital, merosin deficient or partially deficient",
            "description": ""
        },
        {
            "id": "MONDO:0011925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011925",
            "name": "LAMA2-related muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011925",
            "name": "laminin alpha-2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011925",
            "name": "merosin-deficient congenital muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011925",
            "name": "muscular dystrophy, congenital merosin-deficient, 1A",
            "description": ""
        },
        {
            "id": "MONDO:0011925",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011925",
            "name": "muscular dystrophy, congenital, merosin-deficient",
            "description": ""
        },
        {
            "id": "MIM:607855",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607855",
            "name": "Merosin-deficient congenital muscular dystrophy 1A",
            "description": "Merosin-deficient congenital muscular dystrophy 1A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110636"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110636",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110636",
            "categories": []
        },
        {
            "id": "MONDO:0011925",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011925",
            "categories": []
        },
        {
            "id": "MIM:607855",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607855",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q60675-1",
            "uniprot_ac": "Q60675",
            "uniprot_id": "LAMA2_MOUSE",
            "refseq_ac": "NP_032507",
            "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-2",
                    "type": "recommended"
                },
                {
                    "name": "Laminin M chain",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-12 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-2 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-4 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Merosin heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "dystrophia muscularis",
                    "type": "synonym"
                },
                {
                    "name": "laminin M chain",
                    "type": "synonym"
                },
                {
                    "name": "laminin subunit alpha-2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "laminin subunit alpha-2",
                    "type": "synonym"
                },
                {
                    "name": "laminin-12 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "laminin-2 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "laminin-4 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "merosin heavy chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lama2",
                    "type": "recommended"
                },
                {
                    "name": "5830440B04",
                    "type": "synonym"
                },
                {
                    "name": "Lama2",
                    "type": "synonym"
                },
                {
                    "name": "dy",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA4087",
                    "type": "synonym"
                },
                {
                    "name": "merosin",
                    "type": "synonym"
                },
                {
                    "name": "mer",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60675-1",
            "evidence": [
                {
                    "id": "0110636",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110636"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P24043-1",
            "uniprot_ac": "P24043",
            "uniprot_id": "LAMA2_HUMAN",
            "refseq_ac": "NP_001073291",
            "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-2",
                    "type": "recommended"
                },
                {
                    "name": "Laminin M chain",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-12 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-2 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-4 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Merosin heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "laminin M chain",
                    "type": "synonym"
                },
                {
                    "name": "laminin subunit alpha-2 isoform b precursor",
                    "type": "synonym"
                },
                {
                    "name": "laminin, alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "laminin-12 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "laminin-2 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "laminin-4 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "merosin heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "mutant laminin subunit alpha 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LAMA2",
                    "type": "recommended"
                },
                {
                    "name": "LAMA2",
                    "type": "synonym"
                },
                {
                    "name": "LAMM",
                    "type": "synonym"
                },
                {
                    "name": "MDC1A",
                    "type": "synonym"
                }
            ],
            "record_id": "P24043-1",
            "evidence": [
                {
                    "id": "607855",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607855"
                },
                {
                    "id": "0110636",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110636"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZPP7-1",
            "uniprot_ac": "A0A8I5ZPP7",
            "uniprot_id": "A0A8I5ZPP7_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": "Laminin subunit alpha-2",
                    "type": "recommended"
                },
                {
                    "name": "Laminin M chain",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-12 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-2 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Laminin-4 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Merosin heavy chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lama2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I5ZPP7-1",
            "evidence": [
                {
                    "id": "0110636",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110636"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IP51-1",
            "uniprot_ac": "Q8IP51",
            "uniprot_id": "Q8IP51_DROME",
            "refseq_ac": "NP_723870",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG42677-PB",
                    "type": "synonym"
                },
                {
                    "name": "D-laminin alpha2",
                    "type": "synonym"
                },
                {
                    "name": "SGP cluster fusion defects 5",
                    "type": "synonym"
                },
                {
                    "name": "Wing blister, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "alpha laminin",
                    "type": "synonym"
                },
                {
                    "name": "laminin A2",
                    "type": "synonym"
                },
                {
                    "name": "laminin alpha1,2",
                    "type": "synonym"
                },
                {
                    "name": "laminin alpha[[1,2]]",
                    "type": "synonym"
                },
                {
                    "name": "lamininW",
                    "type": "synonym"
                },
                {
                    "name": "lethal 1 in the black-reduced region",
                    "type": "synonym"
                },
                {
                    "name": "lethal group A1",
                    "type": "synonym"
                },
                {
                    "name": "wb-PB",
                    "type": "synonym"
                },
                {
                    "name": "wing blister, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "wing blistered",
                    "type": "synonym"
                },
                {
                    "name": "wingblister",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wb",
                    "type": "recommended"
                },
                {
                    "name": "2Lan",
                    "type": "synonym"
                },
                {
                    "name": "2]]",
                    "type": "synonym"
                },
                {
                    "name": "2",
                    "type": "synonym"
                },
                {
                    "name": "A1",
                    "type": "synonym"
                },
                {
                    "name": "BEST:CK02229",
                    "type": "synonym"
                },
                {
                    "name": "BG:DS03792.1",
                    "type": "synonym"
                },
                {
                    "name": "BG:DS03792.2",
                    "type": "synonym"
                },
                {
                    "name": "CG15288",
                    "type": "synonym"
                },
                {
                    "name": "CG32970",
                    "type": "synonym"
                },
                {
                    "name": "CG42677",
                    "type": "synonym"
                },
                {
                    "name": "CK02229",
                    "type": "synonym"
                },
                {
                    "name": "CT35236",
                    "type": "synonym"
                },
                {
                    "name": "DLAM",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42677",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42677",
                    "type": "synonym"
                },
                {
                    "name": "LM-A/alpha2",
                    "type": "synonym"
                },
                {
                    "name": "LanA1",
                    "type": "synonym"
                },
                {
                    "name": "LanWb",
                    "type": "synonym"
                },
                {
                    "name": "Wb",
                    "type": "synonym"
                },
                {
                    "name": "alpha1",
                    "type": "synonym"
                },
                {
                    "name": "alpha2",
                    "type": "synonym"
                },
                {
                    "name": "alpha[[1",
                    "type": "synonym"
                },
                {
                    "name": "fus5",
                    "type": "synonym"
                },
                {
                    "name": "l(2)09437",
                    "type": "synonym"
                },
                {
                    "name": "l(2)34Fb",
                    "type": "synonym"
                },
                {
                    "name": "l(2)br1",
                    "type": "synonym"
                },
                {
                    "name": "l34Fb",
                    "type": "synonym"
                },
                {
                    "name": "wb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IP51-1",
            "evidence": [
                {
                    "id": "0110636",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110636"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110636"
}