{
    "disease_id": "DOID:0080448",
    "recommended_name": {
        "id": "DOID:0080448",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080448",
        "name": "developmental and epileptic encephalopathy 48",
        "description": "A developmental and epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has_material_basis_in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25."
    },
    "synonyms": [
        {
            "id": "DOID:0080448",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080448",
            "name": "DEE48",
            "description": ""
        },
        {
            "id": "DOID:0080448",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080448",
            "name": "early infantile epileptic encephalopathy 48",
            "description": ""
        },
        {
            "id": "MONDO:0015000",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015000",
            "name": "developmental and epileptic encephalopathy, 48",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene."
        },
        {
            "id": "MONDO:0015000",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015000",
            "name": "AP3B2 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0015000",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015000",
            "name": "DEE48",
            "description": ""
        },
        {
            "id": "MONDO:0015000",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015000",
            "name": "EIEE48",
            "description": ""
        },
        {
            "id": "MONDO:0015000",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015000",
            "name": "developmental and epileptic encephalopathy 48",
            "description": ""
        },
        {
            "id": "MONDO:0015000",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015000",
            "name": "early infantile epileptic encephalopathy caused by mutation in AP3B2",
            "description": ""
        },
        {
            "id": "MONDO:0015000",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015000",
            "name": "epileptic encephalopathy, early infantile, 48",
            "description": ""
        },
        {
            "id": "MONDO:0015000",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015000",
            "name": "epileptic encephalopathy, early infantile, 48; EIEE48",
            "description": ""
        },
        {
            "id": "MONDO:0015000",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015000",
            "name": "epileptic encephalopathy, early infantile, type 48",
            "description": ""
        },
        {
            "id": "MIM:617276",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617276",
            "name": "Developmental and epileptic encephalopathy 48",
            "description": "Developmental and epileptic encephalopathy 48"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080448"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080448",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080448",
            "categories": []
        },
        {
            "id": "MONDO:0015000",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015000",
            "categories": []
        },
        {
            "id": "MIM:617276",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617276",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9JME5-1",
            "uniprot_ac": "Q9JME5",
            "uniprot_id": "AP3B2_MOUSE",
            "refseq_ac": "NP_067467",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-3 complex subunit beta-2",
                    "type": "recommended"
                },
                {
                    "name": "AP-3 complex beta-2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "AP-3 complex subunit beta-2",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor protein complex AP-3 subunit beta-2",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor-related protein complex 3 subunit beta-2",
                    "type": "synonym"
                },
                {
                    "name": "Beta-3B-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin assembly protein complex 3 beta-2 large chain",
                    "type": "synonym"
                },
                {
                    "name": "adapter-related protein complex 3 subunit beta-2",
                    "type": "synonym"
                },
                {
                    "name": "adaptor protein complex AP-3 beta-2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "adaptor protein complex AP-3 subunit beta-2",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex 3 subunit beta-2",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex AP-3, beta 2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "beta-3B-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "beta3B-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "clathrin assembly protein complex 3 beta-2 large chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ap3b2",
                    "type": "recommended"
                },
                {
                    "name": "Ap3b2",
                    "type": "synonym"
                },
                {
                    "name": "Naptb",
                    "type": "synonym"
                },
                {
                    "name": "[b]-NAP",
                    "type": "synonym"
                },
                {
                    "name": "beta-NAP",
                    "type": "synonym"
                },
                {
                    "name": "beta3B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JME5-1",
            "evidence": [
                {
                    "id": "0080448",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080448"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13367-1",
            "uniprot_ac": "Q13367",
            "uniprot_id": "AP3B2_HUMAN",
            "refseq_ac": "NP_001265440",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-3 complex subunit beta-2",
                    "type": "recommended"
                },
                {
                    "name": "AP-3 complex subunit beta-2 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "AP-3 complex subunit beta-2",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor protein complex AP-3 subunit beta-2",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor-related protein complex 3 subunit beta-2",
                    "type": "synonym"
                },
                {
                    "name": "Beta-3B-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin assembly protein complex 3 beta-2 large chain",
                    "type": "synonym"
                },
                {
                    "name": "Neuron-specific vesicle coat protein beta-NAP",
                    "type": "synonym"
                },
                {
                    "name": "Neuronal adaptin-like protein, beta-subunit",
                    "type": "synonym"
                },
                {
                    "name": "adaptor protein complex AP-3 subunit beta-2",
                    "type": "synonym"
                },
                {
                    "name": "adaptor related protein complex 3 beta 2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "beta-3B-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "clathrin assembly protein complex 3 beta-2 large chain",
                    "type": "synonym"
                },
                {
                    "name": "neuron-specific vesicle coat protein beta-NAP",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AP3B2",
                    "type": "recommended"
                },
                {
                    "name": "AP3B2",
                    "type": "synonym"
                },
                {
                    "name": "DEE48",
                    "type": "synonym"
                },
                {
                    "name": "EIEE48",
                    "type": "synonym"
                },
                {
                    "name": "NAPTB",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13367-1",
            "evidence": [
                {
                    "id": "617276",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617276"
                },
                {
                    "id": "0080448",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080448"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46682-1",
            "uniprot_ac": "P46682",
            "uniprot_id": "AP3B_YEAST",
            "refseq_ac": "NP_011777",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-3 complex subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "AP-3 complex subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor-related protein complex 3 subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Beta-3-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin assembly protein complex 3 beta large chain",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin assembly protein large beta chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "APL6",
                    "type": "recommended"
                },
                {
                    "name": "APL6",
                    "type": "synonym"
                },
                {
                    "name": "G9331",
                    "type": "synonym"
                },
                {
                    "name": "YKS5",
                    "type": "synonym"
                }
            ],
            "record_id": "P46682-1",
            "evidence": [
                {
                    "id": "0080448",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080448"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LE23-1",
            "uniprot_ac": "A0ABK0LE23",
            "uniprot_id": "A0ABK0LE23_RAT",
            "refseq_ac": "XP_063118782",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-3 complex subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "AP-3 complex subunit beta-2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ap3b2",
                    "type": "recommended"
                },
                {
                    "name": "Ap3b2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LE23-1",
            "evidence": [
                {
                    "id": "0080448",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080448"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W4K1-1",
            "uniprot_ac": "Q9W4K1",
            "uniprot_id": "Q9W4K1_DROME",
            "refseq_ac": "NP_001162664",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-3 complex subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "CG11427-PD",
                    "type": "synonym"
                },
                {
                    "name": "adaptor protein complex 3, beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "rb-PD",
                    "type": "synonym"
                },
                {
                    "name": "ruby, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "ruby",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rb",
                    "type": "recommended"
                },
                {
                    "name": "AP-3beta",
                    "type": "synonym"
                },
                {
                    "name": "CG11427",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11427",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11427",
                    "type": "synonym"
                },
                {
                    "name": "Rb",
                    "type": "synonym"
                },
                {
                    "name": "apl6",
                    "type": "synonym"
                },
                {
                    "name": "beta3",
                    "type": "synonym"
                },
                {
                    "name": "cg11427",
                    "type": "synonym"
                },
                {
                    "name": "rb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W4K1-1",
            "evidence": [
                {
                    "id": "0080448",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080448"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080448"
}