{
    "disease_id": "DOID:0070388",
    "recommended_name": {
        "id": "DOID:0070388",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070388",
        "name": "developmental and epileptic encephalopathy 102",
        "description": "A developmental and epileptic encephalopathy characterized by global developmental delay and severe to profoundly impaired intellectual development with inability to walk or speak that has_material_basis_in homozygous or compound heterozygous mutations in the SLC38A3 gene on chromosome 3p21."
    },
    "synonyms": [
        {
            "id": "DOID:0070388",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070388",
            "name": "DEE102",
            "description": ""
        },
        {
            "id": "DOID:0070388",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070388",
            "name": "early infantile epileptic encephalopathy 102",
            "description": ""
        },
        {
            "id": "MONDO:0030881",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030881",
            "name": "developmental and epileptic encephalopathy 102",
            "description": ""
        },
        {
            "id": "MONDO:0030881",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030881",
            "name": "DEE102",
            "description": ""
        },
        {
            "id": "MONDO:0030881",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030881",
            "name": "developmental and epileptic encephalopathy 102",
            "description": ""
        },
        {
            "id": "MIM:619881",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619881",
            "name": "Developmental and epileptic encephalopathy 102",
            "description": "Developmental and epileptic encephalopathy 102"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070388"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070388",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070388",
            "categories": []
        },
        {
            "id": "MONDO:0030881",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030881",
            "categories": []
        },
        {
            "id": "MIM:619881",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619881",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3ATR8-1",
            "uniprot_ac": "A0A8M3ATR8",
            "uniprot_id": "A0A8M3ATR8_DANRE",
            "refseq_ac": "XP_009300998",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-coupled neutral amino acid transporter 3 isoform X2",
                    "type": "synonym"
                },
                {
                    "name": "sodium-coupled neutral amino acid transporter 3 isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc38a3b",
                    "type": "recommended"
                },
                {
                    "name": "slc38a3b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3ATR8-1",
            "evidence": [
                {
                    "id": "0070388",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070388"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DCP2-1",
            "uniprot_ac": "Q9DCP2",
            "uniprot_id": "S38A3_MOUSE",
            "refseq_ac": "NP_001186146",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-coupled neutral amino acid transporter 3",
                    "type": "recommended"
                },
                {
                    "name": "N system amino acids transporter NAT-1",
                    "type": "synonym"
                },
                {
                    "name": "N-system amino acid transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)-coupled neutral amino acid transporter 3",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 38 member 3",
                    "type": "synonym"
                },
                {
                    "name": "System N amino acid transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "mNAT",
                    "type": "synonym"
                },
                {
                    "name": "sodium-coupled neutral amino acid transporter 3",
                    "type": "synonym"
                },
                {
                    "name": "system N amino acid transporter 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc38a3",
                    "type": "recommended"
                },
                {
                    "name": "0610012J02Rik",
                    "type": "synonym"
                },
                {
                    "name": "D9Ucla2",
                    "type": "synonym"
                },
                {
                    "name": "Nat1",
                    "type": "synonym"
                },
                {
                    "name": "Slc38-3",
                    "type": "synonym"
                },
                {
                    "name": "Slc38a3",
                    "type": "synonym"
                },
                {
                    "name": "Sn1",
                    "type": "synonym"
                },
                {
                    "name": "Snat3",
                    "type": "synonym"
                },
                {
                    "name": "mNAT",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DCP2-1",
            "evidence": [
                {
                    "id": "0070388",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070388"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99624-1",
            "uniprot_ac": "Q99624",
            "uniprot_id": "S38A3_HUMAN",
            "refseq_ac": "NP_006832",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-coupled neutral amino acid transporter 3",
                    "type": "recommended"
                },
                {
                    "name": "N-system amino acid transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)-coupled neutral amino acid transporter 3",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 38 member 3",
                    "type": "synonym"
                },
                {
                    "name": "System N amino acid transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium-coupled neutral amino acid transporter 3",
                    "type": "synonym"
                },
                {
                    "name": "system N amino acid transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "system N1 Na+ and H+-coupled glutamine transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC38A3",
                    "type": "recommended"
                },
                {
                    "name": "DEE102",
                    "type": "synonym"
                },
                {
                    "name": "G17",
                    "type": "synonym"
                },
                {
                    "name": "NAT1",
                    "type": "synonym"
                },
                {
                    "name": "SLC38A3",
                    "type": "synonym"
                },
                {
                    "name": "SN1",
                    "type": "synonym"
                },
                {
                    "name": "SNAT3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99624-1",
            "evidence": [
                {
                    "id": "619881",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619881"
                },
                {
                    "id": "0070388",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070388"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JHZ9-1",
            "uniprot_ac": "Q9JHZ9",
            "uniprot_id": "S38A3_RAT",
            "refseq_ac": "NP_665719",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-coupled neutral amino acid transporter 3",
                    "type": "recommended"
                },
                {
                    "name": "N-system amino acid transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)-coupled neutral amino acid transporter 3",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 38 member 3",
                    "type": "synonym"
                },
                {
                    "name": "System N amino acid transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium-coupled neutral amino acid transporter 3",
                    "type": "synonym"
                },
                {
                    "name": "system N amino acid transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "system N1 amino acid transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc38a3",
                    "type": "recommended"
                },
                {
                    "name": "Nat1",
                    "type": "synonym"
                },
                {
                    "name": "Slc38a3",
                    "type": "synonym"
                },
                {
                    "name": "Sn1",
                    "type": "synonym"
                },
                {
                    "name": "Snat3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JHZ9-1",
            "evidence": [
                {
                    "id": "0070388",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070388"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070388"
}