{
    "disease_id": "DOID:0080101",
    "recommended_name": {
        "id": "DOID:0080101",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080101",
        "name": "Compton-North congenital myopathy",
        "description": "A congenital myopathy that has_material_basis_in homozygous mutation in the CNTN1 gene on chromosome 12q12 and that is characterized antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels."
    },
    "synonyms": [
        {
            "id": "DOID:0080101",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080101",
            "name": "congenital myopathy 12",
            "description": ""
        },
        {
            "id": "MONDO:0012929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012929",
            "name": "Compton-North congenital myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012929",
            "name": "Compton-North congenital myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012929",
            "name": "MYPCN",
            "description": ""
        },
        {
            "id": "MONDO:0012929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012929",
            "name": "myopathy, congenital, Compton-NORTH",
            "description": ""
        },
        {
            "id": "MIM:612540",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612540",
            "name": "Congenital myopathy 12",
            "description": "Congenital myopathy 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080101"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080101",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080101",
            "categories": []
        },
        {
            "id": "MONDO:0012929",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012929",
            "categories": []
        },
        {
            "id": "MIM:612540",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612540",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8AXZ4-1",
            "uniprot_ac": "Q8AXZ4",
            "uniprot_id": "CNT1A_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Contactin-1a",
                    "type": "recommended"
                },
                {
                    "name": "F3/F11/contactin",
                    "type": "synonym"
                },
                {
                    "name": "Neural cell recognition molecule F11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cntn1a",
                    "type": "recommended"
                },
                {
                    "name": "cntn1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8AXZ4-1",
            "evidence": [
                {
                    "id": "0080101",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080101"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12960-1",
            "uniprot_ac": "P12960",
            "uniprot_id": "CNTN1_MOUSE",
            "refseq_ac": "NP_001153119",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Contactin-1",
                    "type": "recommended"
                },
                {
                    "name": "Neural cell surface protein F3",
                    "type": "synonym"
                },
                {
                    "name": "contactin-1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "neural cell surface protein F3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cntn1",
                    "type": "recommended"
                },
                {
                    "name": "CNTN",
                    "type": "synonym"
                },
                {
                    "name": "Cntn1",
                    "type": "synonym"
                },
                {
                    "name": "F3cam",
                    "type": "synonym"
                },
                {
                    "name": "usl",
                    "type": "synonym"
                }
            ],
            "record_id": "P12960-1",
            "evidence": [
                {
                    "id": "0080101",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080101"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12860-1",
            "uniprot_ac": "Q12860",
            "uniprot_id": "CNTN1_HUMAN",
            "refseq_ac": "NP_001242992",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Contactin-1",
                    "type": "recommended"
                },
                {
                    "name": "Glycoprotein gp135",
                    "type": "synonym"
                },
                {
                    "name": "Neural cell surface protein F3",
                    "type": "synonym"
                },
                {
                    "name": "contactin-1 isoform 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein gP135",
                    "type": "synonym"
                },
                {
                    "name": "neural cell surface protein F3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CNTN1",
                    "type": "recommended"
                },
                {
                    "name": "CMYO12",
                    "type": "synonym"
                },
                {
                    "name": "CMYP12",
                    "type": "synonym"
                },
                {
                    "name": "CNTN1",
                    "type": "synonym"
                },
                {
                    "name": "F3",
                    "type": "synonym"
                },
                {
                    "name": "GP135",
                    "type": "synonym"
                },
                {
                    "name": "MYPCN",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12860-1",
            "evidence": [
                {
                    "id": "612540",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612540"
                },
                {
                    "id": "0080101",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080101"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63198-1",
            "uniprot_ac": "Q63198",
            "uniprot_id": "CNTN1_RAT",
            "refseq_ac": "NP_476459",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Contactin-1",
                    "type": "recommended"
                },
                {
                    "name": "Neural cell surface protein F3",
                    "type": "synonym"
                },
                {
                    "name": "contactin-1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "neural cell surface protein F3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cntn1",
                    "type": "recommended"
                },
                {
                    "name": "Cntn1",
                    "type": "synonym"
                },
                {
                    "name": "F3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63198-1",
            "evidence": [
                {
                    "id": "0080101",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080101"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13638-1",
            "uniprot_ac": "P13638",
            "uniprot_id": "AT1B2_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": "Sodium/potassium-transporting ATPase subunit beta-2",
                    "type": "recommended"
                },
                {
                    "name": "Sodium/potassium-dependent ATPase subunit beta-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp1b2",
                    "type": "recommended"
                }
            ],
            "record_id": "P13638-1",
            "evidence": [
                {
                    "id": "0080101",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080101"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VN14-1",
            "uniprot_ac": "Q9VN14",
            "uniprot_id": "CONT_DROME",
            "refseq_ac": "NP_649461",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Contactin",
                    "type": "recommended"
                },
                {
                    "name": "CG1084-PA",
                    "type": "synonym"
                },
                {
                    "name": "Cont-PA",
                    "type": "synonym"
                },
                {
                    "name": "D-Contactin",
                    "type": "synonym"
                },
                {
                    "name": "contactin",
                    "type": "synonym"
                },
                {
                    "name": "dcontactin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cont",
                    "type": "recommended"
                },
                {
                    "name": "CG1084",
                    "type": "synonym"
                },
                {
                    "name": "CONT",
                    "type": "synonym"
                },
                {
                    "name": "CT1481",
                    "type": "synonym"
                },
                {
                    "name": "Cont",
                    "type": "synonym"
                },
                {
                    "name": "D-Axonin",
                    "type": "synonym"
                },
                {
                    "name": "DCONT",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1084",
                    "type": "synonym"
                },
                {
                    "name": "cont",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VN14-1",
            "evidence": [
                {
                    "id": "0080101",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080101"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080101"
}