{
    "disease_id": "DOID:0081426",
    "recommended_name": {
        "id": "DOID:0081426",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081426",
        "name": "autosomal recessive distal hereditary motor neuronopathy 7",
        "description": "An autosomal recessive distal hereditary motor neuronopathy characterized by onset of lower leg weakness in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the VWA1 gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "MONDO:0030977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030977",
            "name": "neuronopathy, distal hereditary motor, autosomal recessive 7",
            "description": ""
        },
        {
            "id": "MONDO:0030977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030977",
            "name": "HMNMYO",
            "description": ""
        },
        {
            "id": "MONDO:0030977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030977",
            "name": "neuropathy, hereditary motor, with myopathic features",
            "description": ""
        },
        {
            "id": "MIM:619216",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619216",
            "name": "Neuronopathy, hereditary motor, autosomal recessive 7",
            "description": "Neuronopathy, hereditary motor, autosomal recessive 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081426"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081426",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081426",
            "categories": []
        },
        {
            "id": "MONDO:0030977",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030977",
            "categories": []
        },
        {
            "id": "MIM:619216",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619216",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FF10-1",
            "uniprot_ac": "E7FF10",
            "uniprot_id": "VWA1_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "von Willebrand factor A domain-containing protein 1",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "vwa1",
                    "type": "recommended"
                },
                {
                    "name": "fi25e07",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-3p8.6",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi25e07",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FF10-1",
            "evidence": [
                {
                    "id": "0081426",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081426"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R2Z5-1",
            "uniprot_ac": "Q8R2Z5",
            "uniprot_id": "VWA1_MOUSE",
            "refseq_ac": "NP_680085",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "von Willebrand factor A domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "von Willebrand factor A domain-containing protein 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "von Willebrand factor A domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "von Willebrand factor A domain-related protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vwa1",
                    "type": "recommended"
                },
                {
                    "name": "4932416A11Rik",
                    "type": "synonym"
                },
                {
                    "name": "Vwa1",
                    "type": "synonym"
                },
                {
                    "name": "WARP",
                    "type": "synonym"
                },
                {
                    "name": "Warp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R2Z5-1",
            "evidence": [
                {
                    "id": "0081426",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081426"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PCB0-1",
            "uniprot_ac": "Q6PCB0",
            "uniprot_id": "VWA1_HUMAN",
            "refseq_ac": "NP_073745",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "von Willebrand factor A domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "von Willebrand factor A domain-containing protein 1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "von Willebrand factor A domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "von Willebrand factor A domain-related protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VWA1",
                    "type": "recommended"
                },
                {
                    "name": "HMNMYO",
                    "type": "synonym"
                },
                {
                    "name": "HMNR7",
                    "type": "synonym"
                },
                {
                    "name": "VWA1",
                    "type": "synonym"
                },
                {
                    "name": "WARP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PCB0-1",
            "evidence": [
                {
                    "id": "619216",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619216"
                },
                {
                    "id": "0081426",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081426"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q642A6-1",
            "uniprot_ac": "Q642A6",
            "uniprot_id": "VWA1_RAT",
            "refseq_ac": "NP_001013960",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "von Willebrand factor A domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "von Willebrand factor A domain-containing protein 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "von Willebrand factor A domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vwa1",
                    "type": "recommended"
                },
                {
                    "name": "RGD1311476",
                    "type": "synonym"
                },
                {
                    "name": "Vwa1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q642A6-1",
            "evidence": [
                {
                    "id": "0081426",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081426"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081426"
}