{
    "disease_id": "DOID:0112208",
    "recommended_name": {
        "id": "DOID:0112208",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112208",
        "name": "developmental and epileptic encephalopathy 72",
        "description": "A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on EEG, and severely delayed psychomotor development with impaired or absent walking and language skills that has_material_basis_in heterozygous mutation in the NEUROD2 gene on chromosome 17q12."
    },
    "synonyms": [
        {
            "id": "DOID:0112208",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112208",
            "name": "DEE72",
            "description": ""
        },
        {
            "id": "DOID:0112208",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112208",
            "name": "early infantile epileptic encephalopathy 72",
            "description": ""
        },
        {
            "id": "MONDO:0032710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032710",
            "name": "developmental and epileptic encephalopathy, 72",
            "description": ""
        },
        {
            "id": "MONDO:0032710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032710",
            "name": "DEE72",
            "description": ""
        },
        {
            "id": "MONDO:0032710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032710",
            "name": "EIEE72",
            "description": ""
        },
        {
            "id": "MONDO:0032710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032710",
            "name": "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 72",
            "description": ""
        },
        {
            "id": "MONDO:0032710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032710",
            "name": "developmental and epileptic encephalopathy 72",
            "description": ""
        },
        {
            "id": "MONDO:0032710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032710",
            "name": "epileptic encephalopathy, early infantile, 72",
            "description": ""
        },
        {
            "id": "MIM:618374",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618374",
            "name": "Developmental and epileptic encephalopathy 72",
            "description": "Developmental and epileptic encephalopathy 72"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112208"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112208",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112208",
            "categories": []
        },
        {
            "id": "MONDO:0032710",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032710",
            "categories": []
        },
        {
            "id": "MIM:618374",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618374",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9W6C8-1",
            "uniprot_ac": "Q9W6C8",
            "uniprot_id": "NDF2_DANRE",
            "refseq_ac": "NP_571157",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurogenic differentiation factor 2",
                    "type": "recommended"
                },
                {
                    "name": "NDF2",
                    "type": "synonym"
                },
                {
                    "name": "NeuroD2",
                    "type": "synonym"
                },
                {
                    "name": "neurogenic differentiation 2",
                    "type": "synonym"
                },
                {
                    "name": "neurogenic differentiation factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "neurod2",
                    "type": "recommended"
                },
                {
                    "name": "fj49a11",
                    "type": "synonym"
                },
                {
                    "name": "ndr2",
                    "type": "synonym"
                },
                {
                    "name": "neurod2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj49a11",
                    "type": "synonym"
                },
                {
                    "name": "zNdr2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W6C8-1",
            "evidence": [
                {
                    "id": "0112208",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112208"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62414-1",
            "uniprot_ac": "Q62414",
            "uniprot_id": "NDF2_MOUSE",
            "refseq_ac": "NP_035025",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurogenic differentiation factor 2",
                    "type": "recommended"
                },
                {
                    "name": "NDRF",
                    "type": "synonym"
                },
                {
                    "name": "NeuroD-related factor",
                    "type": "synonym"
                },
                {
                    "name": "NeuroD2",
                    "type": "synonym"
                },
                {
                    "name": "neuroD-related factor",
                    "type": "synonym"
                },
                {
                    "name": "neurogenic differentiation factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Neurod2",
                    "type": "recommended"
                },
                {
                    "name": "Ndrf",
                    "type": "synonym"
                },
                {
                    "name": "Neurod2",
                    "type": "synonym"
                },
                {
                    "name": "bHLHa1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62414-1",
            "evidence": [
                {
                    "id": "0112208",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112208"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15784-1",
            "uniprot_ac": "Q15784",
            "uniprot_id": "NDF2_HUMAN",
            "refseq_ac": "NP_006151",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurogenic differentiation factor 2",
                    "type": "recommended"
                },
                {
                    "name": "Class A basic helix-loop-helix protein 1",
                    "type": "synonym"
                },
                {
                    "name": "NDRF",
                    "type": "synonym"
                },
                {
                    "name": "NeuroD-related factor",
                    "type": "synonym"
                },
                {
                    "name": "NeuroD2",
                    "type": "synonym"
                },
                {
                    "name": "bHLHa1",
                    "type": "synonym"
                },
                {
                    "name": "class A basic helix-loop-helix protein 1",
                    "type": "synonym"
                },
                {
                    "name": "neuroD-related factor",
                    "type": "synonym"
                },
                {
                    "name": "neurogenic basic-helix-loop-helix protein",
                    "type": "synonym"
                },
                {
                    "name": "neurogenic differentiation 2",
                    "type": "synonym"
                },
                {
                    "name": "neurogenic differentiation factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NEUROD2",
                    "type": "recommended"
                },
                {
                    "name": "BHLHA1",
                    "type": "synonym"
                },
                {
                    "name": "DEE72",
                    "type": "synonym"
                },
                {
                    "name": "EIEE72",
                    "type": "synonym"
                },
                {
                    "name": "NDRF",
                    "type": "synonym"
                },
                {
                    "name": "NEUROD2",
                    "type": "synonym"
                },
                {
                    "name": "bHLHa1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15784-1",
            "evidence": [
                {
                    "id": "618374",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618374"
                },
                {
                    "id": "0112208",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112208"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63689-1",
            "uniprot_ac": "Q63689",
            "uniprot_id": "NDF2_RAT",
            "refseq_ac": "NP_062199",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurogenic differentiation factor 2",
                    "type": "recommended"
                },
                {
                    "name": "Brain bHLH protein KW8",
                    "type": "synonym"
                },
                {
                    "name": "NeuroD2",
                    "type": "synonym"
                },
                {
                    "name": "brain bHLH protein KW8",
                    "type": "synonym"
                },
                {
                    "name": "neurogenic differentiation 2",
                    "type": "synonym"
                },
                {
                    "name": "neurogenic differentiation factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Neurod2",
                    "type": "recommended"
                },
                {
                    "name": "Neurod2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63689-1",
            "evidence": [
                {
                    "id": "0112208",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112208"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92633-1",
            "uniprot_ac": "Q92633",
            "uniprot_id": "LPAR1_HUMAN",
            "refseq_ac": "NP_001392",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysophosphatidic acid receptor 1",
                    "type": "recommended"
                },
                {
                    "name": "LPA receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "LPA-1",
                    "type": "synonym"
                },
                {
                    "name": "Lysophosphatidic acid receptor Edg-2",
                    "type": "synonym"
                },
                {
                    "name": "endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2",
                    "type": "synonym"
                },
                {
                    "name": "lysophosphatidic acid receptor 1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "lysophosphatidic acid receptor Edg-2",
                    "type": "synonym"
                },
                {
                    "name": "ventricular zone gene 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LPAR1",
                    "type": "recommended"
                },
                {
                    "name": "EDG2",
                    "type": "synonym"
                },
                {
                    "name": "Gpcr26",
                    "type": "synonym"
                },
                {
                    "name": "LPA1",
                    "type": "synonym"
                },
                {
                    "name": "LPAR1",
                    "type": "synonym"
                },
                {
                    "name": "Mrec1.3",
                    "type": "synonym"
                },
                {
                    "name": "VZG1",
                    "type": "synonym"
                },
                {
                    "name": "edg-2",
                    "type": "synonym"
                },
                {
                    "name": "rec.1.3",
                    "type": "synonym"
                },
                {
                    "name": "vzg-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92633-1",
            "evidence": [
                {
                    "id": "0112208",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112208"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112208"
}