{
    "disease_id": "DOID:0080443",
    "recommended_name": {
        "id": "DOID:0080443",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080443",
        "name": "developmental and epileptic encephalopathy 21",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13."
    },
    "synonyms": [
        {
            "id": "DOID:0080443",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080443",
            "name": "DEE21",
            "description": ""
        },
        {
            "id": "DOID:0080443",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080443",
            "name": "early infantile epileptic encephalopathy 21",
            "description": ""
        },
        {
            "id": "MONDO:0014360",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014360",
            "name": "developmental and epileptic encephalopathy, 21",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the NECAP1 gene."
        },
        {
            "id": "MONDO:0014360",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014360",
            "name": "DEE21",
            "description": ""
        },
        {
            "id": "MONDO:0014360",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014360",
            "name": "EIEE21",
            "description": ""
        },
        {
            "id": "MONDO:0014360",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014360",
            "name": "NECAP1 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014360",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014360",
            "name": "developmental and epileptic encephalopathy 21",
            "description": ""
        },
        {
            "id": "MONDO:0014360",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014360",
            "name": "early infantile epileptic encephalopathy caused by mutation in NECAP1",
            "description": ""
        },
        {
            "id": "MONDO:0014360",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014360",
            "name": "epileptic encephalopathy, early infantile, 21",
            "description": ""
        },
        {
            "id": "MONDO:0014360",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014360",
            "name": "epileptic encephalopathy, early infantile, type 21",
            "description": ""
        },
        {
            "id": "MIM:615833",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615833",
            "name": "Developmental and epileptic encephalopathy 21",
            "description": "Developmental and epileptic encephalopathy 21"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080443"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080443",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080443",
            "categories": []
        },
        {
            "id": "MONDO:0014360",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014360",
            "categories": []
        },
        {
            "id": "MIM:615833",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615833",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9CR95-1",
            "uniprot_ac": "Q9CR95",
            "uniprot_id": "NECP1_MOUSE",
            "refseq_ac": "NP_080543",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adaptin ear-binding coat-associated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "NECAP endocytosis-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "NECAP-1",
                    "type": "synonym"
                },
                {
                    "name": "adaptin ear-binding coat-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "brain enriched NECAP2 similar protein",
                    "type": "synonym"
                },
                {
                    "name": "clathrin-coated vesicle coat protein",
                    "type": "synonym"
                },
                {
                    "name": "snoRNA MBI-129",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Necap1",
                    "type": "recommended"
                },
                {
                    "name": "1200016B17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Necap1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CR95-1",
            "evidence": [
                {
                    "id": "0080443",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080443"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NC96-1",
            "uniprot_ac": "Q8NC96",
            "uniprot_id": "NECP1_HUMAN",
            "refseq_ac": "NP_056324",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adaptin ear-binding coat-associated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "NECAP endocytosis-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "NECAP-1",
                    "type": "synonym"
                },
                {
                    "name": "adaptin ear-binding coat-associated protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NECAP1",
                    "type": "recommended"
                },
                {
                    "name": "DEE21",
                    "type": "synonym"
                },
                {
                    "name": "EIEE21",
                    "type": "synonym"
                },
                {
                    "name": "NECAP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NC96-1",
            "evidence": [
                {
                    "id": "615833",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615833"
                },
                {
                    "id": "0080443",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080443"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P69682-1",
            "uniprot_ac": "P69682",
            "uniprot_id": "NECP1_RAT",
            "refseq_ac": "NP_001025090",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adaptin ear-binding coat-associated protein 1",
                    "type": "recommended"
                },
                {
                    "name": "NECAP endocytosis-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "NECAP-1",
                    "type": "synonym"
                },
                {
                    "name": "adaptin ear-binding clathrin-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "adaptin ear-binding coat-associated protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Necap1",
                    "type": "recommended"
                },
                {
                    "name": "Necap1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1306053",
                    "type": "synonym"
                }
            ],
            "record_id": "P69682-1",
            "evidence": [
                {
                    "id": "0080443",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080443"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXB0-1",
            "uniprot_ac": "Q9VXB0",
            "uniprot_id": "NECAP_DROME",
            "refseq_ac": "NP_001245720",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "NECAP-like protein CG9132",
                    "type": "recommended"
                },
                {
                    "name": "CG9132-PC",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG9132",
                    "type": "recommended"
                },
                {
                    "name": "CG32566",
                    "type": "synonym"
                },
                {
                    "name": "CG9132",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9132",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9132",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VXB0-1",
            "evidence": [
                {
                    "id": "0080443",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080443"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080443"
}