{
    "disease_id": "DOID:0090124",
    "recommended_name": {
        "id": "DOID:0090124",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090124",
        "name": "neurogenic-type arthrogryposis multiplex congenita-2",
        "description": "An arthrogryposis multiplex congenita that is characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor neuron depletion, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the endoplasmic reticulum-golgi intermediate compartment protein 1 gene (ERGIC1) on chromosome region 5q35."
    },
    "synonyms": [
        {
            "id": "DOID:0090124",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090124",
            "name": "AMC neurogenic type",
            "description": ""
        },
        {
            "id": "DOID:0090124",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090124",
            "name": "AMCN",
            "description": ""
        },
        {
            "id": "DOID:0090124",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090124",
            "name": "arthrogryposis multiplex congenita neurogenic type",
            "description": ""
        },
        {
            "id": "DOID:0090124",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090124",
            "name": "AMC2",
            "description": ""
        },
        {
            "id": "DOID:0090124",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090124",
            "name": "arthrogryposis multiplex congenita 2, neurogenic type",
            "description": ""
        },
        {
            "id": "MONDO:0008823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008823",
            "name": "arthrogryposis multiplex congenita 2, neurogenic type",
            "description": "Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy."
        },
        {
            "id": "MONDO:0008823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008823",
            "name": "AMCN",
            "description": ""
        },
        {
            "id": "MONDO:0008823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008823",
            "name": "neurogenic arthrogryposis multiplex congenita",
            "description": ""
        },
        {
            "id": "MONDO:0008823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008823",
            "name": "arthrogryposis multiplex congenita, neurogenic type",
            "description": ""
        },
        {
            "id": "MONDO:0008823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008823",
            "name": "neurogenic type of AMC",
            "description": ""
        },
        {
            "id": "MIM:208100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/208100",
            "name": "Arthrogryposis multiplex congenita 2, neurogenic type",
            "description": "Arthrogryposis multiplex congenita 2, neurogenic type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090124"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090124",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090124",
            "categories": []
        },
        {
            "id": "MONDO:0008823",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008823",
            "categories": []
        },
        {
            "id": "MIM:208100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/208100",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q4V8Y6-1",
            "uniprot_ac": "Q4V8Y6",
            "uniprot_id": "ERGI1_DANRE",
            "refseq_ac": "NP_001025133",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endoplasmic reticulum-Golgi intermediate compartment protein 1",
                    "type": "recommended"
                },
                {
                    "name": "ER-Golgi intermediate compartment 32 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "ERGIC-32",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum-Golgi intermediate compartment protein 1",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ergic1",
                    "type": "recommended"
                },
                {
                    "name": "ERGIC-32",
                    "type": "synonym"
                },
                {
                    "name": "ergic1",
                    "type": "synonym"
                },
                {
                    "name": "ergic32",
                    "type": "synonym"
                },
                {
                    "name": "zgc:114085",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4V8Y6-1",
            "evidence": [
                {
                    "id": "0090124",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090124"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DC16-1",
            "uniprot_ac": "Q9DC16",
            "uniprot_id": "ERGI1_MOUSE",
            "refseq_ac": "NP_080446",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endoplasmic reticulum-Golgi intermediate compartment protein 1",
                    "type": "recommended"
                },
                {
                    "name": "ER-Golgi intermediate compartment 32 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "ERGIC-32",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum-Golgi intermediate compartment protein 1",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ergic1",
                    "type": "recommended"
                },
                {
                    "name": "1200007D18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ergic1",
                    "type": "synonym"
                },
                {
                    "name": "Ergic32",
                    "type": "synonym"
                },
                {
                    "name": "maa-136",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DC16-1",
            "evidence": [
                {
                    "id": "0090124",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090124"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q969X5-1",
            "uniprot_ac": "Q969X5",
            "uniprot_id": "ERGI1_HUMAN",
            "refseq_ac": "NP_001026881",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endoplasmic reticulum-Golgi intermediate compartment protein 1",
                    "type": "recommended"
                },
                {
                    "name": "ER-Golgi intermediate compartment 32 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "ERGIC-32",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum-Golgi intermediate compartment protein 1",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum-golgi intermediate compartment 32 kDa protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ERGIC1",
                    "type": "recommended"
                },
                {
                    "name": "AMC2",
                    "type": "synonym"
                },
                {
                    "name": "AMCN",
                    "type": "synonym"
                },
                {
                    "name": "ERGIC-32",
                    "type": "synonym"
                },
                {
                    "name": "ERGIC1",
                    "type": "synonym"
                },
                {
                    "name": "ERGIC32",
                    "type": "synonym"
                },
                {
                    "name": "HT034",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1181",
                    "type": "synonym"
                },
                {
                    "name": "NET24",
                    "type": "synonym"
                }
            ],
            "record_id": "Q969X5-1",
            "evidence": [
                {
                    "id": "208100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/208100"
                },
                {
                    "id": "0090124",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090124"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LBR7-1",
            "uniprot_ac": "A0ABK0LBR7",
            "uniprot_id": "A0ABK0LBR7_RAT",
            "refseq_ac": "XP_063124642",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endoplasmic reticulum-Golgi intermediate compartment protein",
                    "type": "recommended"
                },
                {
                    "name": "endoplasmic reticulum-Golgi intermediate compartment protein 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ergic1",
                    "type": "recommended"
                },
                {
                    "name": "Ergic1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LBR7-1",
            "evidence": [
                {
                    "id": "0090124",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090124"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090124"
}