{
    "disease_id": "DOID:0081399",
    "recommended_name": {
        "id": "DOID:0081399",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081399",
        "name": "autosomal dominant distal hereditary motor neuronopathy 10",
        "description": "An autosomal dominant distal hereditary motor neuronopathy that is characterized clinically by length-dependent motor neuropathy primarily affecting the lower limbs and that has_material_basis_in heterozygous mutation in the EMILIN1 gene on chromosome 2p23."
    },
    "synonyms": [
        {
            "id": "MONDO:0859300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859300",
            "name": "neuronopathy, distal hereditary motor, autosomal dominant 10",
            "description": ""
        },
        {
            "id": "MONDO:0859300",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859300",
            "name": "neuronopathy, distal hereditary motor, type X",
            "description": ""
        },
        {
            "id": "MIM:620080",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620080",
            "name": "Neuronopathy, distal hereditary motor, autosomal dominant 10",
            "description": "Neuronopathy, distal hereditary motor, autosomal dominant 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081399"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081399",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081399",
            "categories": []
        },
        {
            "id": "MONDO:0859300",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859300",
            "categories": []
        },
        {
            "id": "MIM:620080",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620080",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QC17-1",
            "uniprot_ac": "F1QC17",
            "uniprot_id": "EMI1A_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": "EMILIN-1-A",
                    "type": "recommended"
                },
                {
                    "name": "Elastin microfibril interfacer 1a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "emilin1a",
                    "type": "recommended"
                },
                {
                    "name": "im:7159005",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-20n10.2",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QC17-1",
            "evidence": [
                {
                    "id": "0081399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1NAR4-1",
            "uniprot_ac": "A0A8M1NAR4",
            "uniprot_id": "A0A8M1NAR4_DANRE",
            "refseq_ac": "NP_001038807",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "EMILIN-1b precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "emilin1b",
                    "type": "recommended"
                },
                {
                    "name": "emilin1b",
                    "type": "synonym"
                },
                {
                    "name": "fc16f07",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc16f07",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136949",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NAR4-1",
            "evidence": [
                {
                    "id": "0081399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99K41-1",
            "uniprot_ac": "Q99K41",
            "uniprot_id": "EMIL1_MOUSE",
            "refseq_ac": "NP_598679",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "EMILIN-1",
                    "type": "recommended"
                },
                {
                    "name": "EMILIN-1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "Elastin microfibril interface-located protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Elastin microfibril interfacer 1",
                    "type": "synonym"
                },
                {
                    "name": "elastin microfibril interface located protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Emilin1",
                    "type": "recommended"
                },
                {
                    "name": "5830419M17Rik",
                    "type": "synonym"
                },
                {
                    "name": "EMILIN-1",
                    "type": "synonym"
                },
                {
                    "name": "Emilin1",
                    "type": "synonym"
                },
                {
                    "name": "gp115",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99K41-1",
            "evidence": [
                {
                    "id": "0081399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y6C2-1",
            "uniprot_ac": "Q9Y6C2",
            "uniprot_id": "EMIL1_HUMAN",
            "refseq_ac": "NP_008977",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "EMILIN-1",
                    "type": "recommended"
                },
                {
                    "name": "EMILIN-1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "Elastin microfibril interface-located protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Elastin microfibril interfacer 1",
                    "type": "synonym"
                },
                {
                    "name": "elastin microfibril interface-located protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EMILIN1",
                    "type": "recommended"
                },
                {
                    "name": "ATBFS",
                    "type": "synonym"
                },
                {
                    "name": "EMILIN1",
                    "type": "synonym"
                },
                {
                    "name": "EMILIN",
                    "type": "synonym"
                },
                {
                    "name": "EMI",
                    "type": "synonym"
                },
                {
                    "name": "HMN10",
                    "type": "synonym"
                },
                {
                    "name": "HMND10",
                    "type": "synonym"
                },
                {
                    "name": "gp115",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y6C2-1",
            "evidence": [
                {
                    "id": "620080",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620080"
                },
                {
                    "id": "0081399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081399"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AGS7-1",
            "uniprot_ac": "A0A8I6AGS7",
            "uniprot_id": "A0A8I6AGS7_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "EMILIN-1",
                    "type": "recommended"
                },
                {
                    "name": "Elastin microfibril interface-located protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Emilin1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6AGS7-1",
            "evidence": [
                {
                    "id": "0081399",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081399"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081399"
}