{
    "disease_id": "DOID:0080587",
    "recommended_name": {
        "id": "DOID:0080587",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080587",
        "name": "congenital myasthenic syndrome 22",
        "description": "A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that has_material_basis_in homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p21."
    },
    "synonyms": [
        {
            "id": "MONDO:0044299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044299",
            "name": "myasthenic syndrome, congenital, 22",
            "description": ""
        },
        {
            "id": "MONDO:0044299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044299",
            "name": "myasthenic syndrome, congenital, 22",
            "description": ""
        },
        {
            "id": "MONDO:0044299",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044299",
            "name": "CMS22",
            "description": ""
        },
        {
            "id": "MIM:616224",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616224",
            "name": "Myasthenic syndrome, congenital, 22",
            "description": "Myasthenic syndrome, congenital, 22"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080587"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080587",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080587",
            "categories": []
        },
        {
            "id": "MONDO:0044299",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044299",
            "categories": []
        },
        {
            "id": "MIM:616224",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616224",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B8JJX2-1",
            "uniprot_ac": "B8JJX2",
            "uniprot_id": "B8JJX2_DANRE",
            "refseq_ac": "NP_001139088",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prolyl endopeptidase",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.-",
                    "type": "synonym"
                },
                {
                    "name": "prolyl endopeptidase-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "prepl",
                    "type": "recommended"
                },
                {
                    "name": "prepl",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-202m23.1",
                    "type": "synonym"
                }
            ],
            "record_id": "B8JJX2-1",
            "evidence": [
                {
                    "id": "0080587",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080587"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8C167-1",
            "uniprot_ac": "Q8C167",
            "uniprot_id": "PPCEL_MOUSE",
            "refseq_ac": "NP_001157094",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prolyl endopeptidase-like",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.-",
                    "type": "synonym"
                },
                {
                    "name": "Prolylendopeptidase-like",
                    "type": "synonym"
                },
                {
                    "name": "prolyl endopeptidase-like isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prepl",
                    "type": "recommended"
                },
                {
                    "name": "2810457N15Rik",
                    "type": "synonym"
                },
                {
                    "name": "9530014L06Rik",
                    "type": "synonym"
                },
                {
                    "name": "D030028O16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0436",
                    "type": "synonym"
                },
                {
                    "name": "Prepl",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0436",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C167-1",
            "evidence": [
                {
                    "id": "0080587",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080587"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4J6C6-1",
            "uniprot_ac": "Q4J6C6",
            "uniprot_id": "PPCEL_HUMAN",
            "refseq_ac": "NP_001035844",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prolyl endopeptidase-like",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.-",
                    "type": "synonym"
                },
                {
                    "name": "Prolylendopeptidase-like",
                    "type": "synonym"
                },
                {
                    "name": "prolyl endopeptidase-like isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "putative prolyl oligopeptidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PREPL",
                    "type": "recommended"
                },
                {
                    "name": "CMS22",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0436",
                    "type": "synonym"
                },
                {
                    "name": "PREPL",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4J6C6-1",
            "evidence": [
                {
                    "id": "616224",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616224"
                },
                {
                    "id": "0080587",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080587"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5HZA6-1",
            "uniprot_ac": "Q5HZA6",
            "uniprot_id": "PPCEL_RAT",
            "refseq_ac": "NP_001010951",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prolyl endopeptidase-like",
                    "type": "recommended"
                },
                {
                    "name": "3.4.21.-",
                    "type": "synonym"
                },
                {
                    "name": "Prolylendopeptidase-like",
                    "type": "synonym"
                },
                {
                    "name": "prolyl endopeptidase-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prepl",
                    "type": "recommended"
                },
                {
                    "name": "Prepl",
                    "type": "synonym"
                },
                {
                    "name": "RGD1310143",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5HZA6-1",
            "evidence": [
                {
                    "id": "0080587",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080587"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080587"
}