{
    "disease_id": "DOID:0081212",
    "recommended_name": {
        "id": "DOID:0081212",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081212",
        "name": "autosomal recessive intellectual developmental disorder 48",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the SLC6A17 gene on chromosome 1p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0014559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014559",
            "name": "progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014559",
            "name": "intellectual disability, autosomal recessive type 48",
            "description": ""
        },
        {
            "id": "MONDO:0014559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014559",
            "name": "mental retardation, autosomal recessive type 48",
            "description": ""
        },
        {
            "id": "MONDO:0014559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014559",
            "name": "MRT48",
            "description": ""
        },
        {
            "id": "MONDO:0014559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014559",
            "name": "intellectual disability, autosomal recessive 48",
            "description": ""
        },
        {
            "id": "MONDO:0014559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014559",
            "name": "mental retardation, autosomal recessive 48",
            "description": ""
        },
        {
            "id": "MIM:616269",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616269",
            "name": "Intellectual developmental disorder, autosomal recessive 48",
            "description": "Intellectual developmental disorder, autosomal recessive 48"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081212"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081212",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081212",
            "categories": []
        },
        {
            "id": "MONDO:0014559",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014559",
            "categories": []
        },
        {
            "id": "MIM:616269",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616269",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "X1WEE1-1",
            "uniprot_ac": "X1WEE1",
            "uniprot_id": "X1WEE1_DANRE",
            "refseq_ac": "NP_001243653",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transporter",
                    "type": "recommended"
                },
                {
                    "name": "sodium-dependent neutral amino acid transporter SLC6A17",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 6 (neutral amino acid transporter), member 17",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc6a17",
                    "type": "recommended"
                },
                {
                    "name": "fj59a05",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-71l10.2",
                    "type": "synonym"
                },
                {
                    "name": "slc6a17",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj59a05",
                    "type": "synonym"
                }
            ],
            "record_id": "X1WEE1-1",
            "evidence": [
                {
                    "id": "0081212",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081212"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BJI1-1",
            "uniprot_ac": "Q8BJI1",
            "uniprot_id": "S6A17_MOUSE",
            "refseq_ac": "NP_001280618",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-dependent neutral amino acid transporter SLC6A17",
                    "type": "recommended"
                },
                {
                    "name": "Sodium-dependent neurotransmitter transporter NTT4",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 6 member 17",
                    "type": "synonym"
                },
                {
                    "name": "orphan sodium- and chloride-dependent neurotransmitter transporter NTT4",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent neutral amino acid transporter SLC6A17 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent neutral amino acid transporter SLC6A17",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc6a17",
                    "type": "recommended"
                },
                {
                    "name": "D130012J15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ntt4",
                    "type": "synonym"
                },
                {
                    "name": "Slc6a17",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BJI1-1",
            "evidence": [
                {
                    "id": "0081212",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081212"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H1V8-1",
            "uniprot_ac": "Q9H1V8",
            "uniprot_id": "S6A17_HUMAN",
            "refseq_ac": "NP_001010898",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-dependent neutral amino acid transporter SLC6A17",
                    "type": "recommended"
                },
                {
                    "name": "Sodium-dependent neurotransmitter transporter NTT4",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 6 member 17",
                    "type": "synonym"
                },
                {
                    "name": "neurotransmitter transporter 4",
                    "type": "synonym"
                },
                {
                    "name": "orphan sodium- and chloride-dependent neurotransmitter transporter NTT4",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent neutral amino acid transporter SLC6A17",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC6A17",
                    "type": "recommended"
                },
                {
                    "name": "MRT48",
                    "type": "synonym"
                },
                {
                    "name": "NTT4",
                    "type": "synonym"
                },
                {
                    "name": "SLC6A17",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H1V8-1",
            "evidence": [
                {
                    "id": "616269",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616269"
                },
                {
                    "id": "0081212",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081212"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31662-1",
            "uniprot_ac": "P31662",
            "uniprot_id": "S6A17_RAT",
            "refseq_ac": "NP_001028251",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-dependent neutral amino acid transporter SLC6A17",
                    "type": "recommended"
                },
                {
                    "name": "Sodium-dependent neurotransmitter transporter NTT4",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 6 member 17",
                    "type": "synonym"
                },
                {
                    "name": "orphan sodium- and chloride-dependent neurotransmitter transporter NTT4",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent neurotransmitter transporter NTT4",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent neutral amino acid transporter SLC6A17",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 6 (neurotransmitter transporter), member 17",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 6 (neutral amino acid transporter), member 17",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc6a17",
                    "type": "recommended"
                },
                {
                    "name": "Ntt4",
                    "type": "synonym"
                },
                {
                    "name": "Rxt1",
                    "type": "synonym"
                },
                {
                    "name": "Slc6a17",
                    "type": "synonym"
                }
            ],
            "record_id": "P31662-1",
            "evidence": [
                {
                    "id": "0081212",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081212"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4K7V4-1",
            "uniprot_ac": "A0A0B4K7V4",
            "uniprot_id": "A0A0B4K7V4_DROME",
            "refseq_ac": "NP_001246408",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transporter",
                    "type": "recommended"
                },
                {
                    "name": "CG43066-PC",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG5226",
                    "type": "recommended"
                },
                {
                    "name": "Dmel\\CG43066",
                    "type": "recommended"
                },
                {
                    "name": "CG42510",
                    "type": "synonym"
                },
                {
                    "name": "CG43006",
                    "type": "synonym"
                },
                {
                    "name": "CG43066",
                    "type": "synonym"
                },
                {
                    "name": "CG5226",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG43066",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG43066",
                    "type": "synonym"
                },
                {
                    "name": "Slc6a20",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0149848.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4K7V4-1",
            "evidence": [
                {
                    "id": "0081212",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081212"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B7Z122-1",
            "uniprot_ac": "B7Z122",
            "uniprot_id": "B7Z122_DROME",
            "refseq_ac": "NP_001138150",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transporter",
                    "type": "recommended"
                },
                {
                    "name": "CG10804-PC",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG10804",
                    "type": "recommended"
                },
                {
                    "name": "CG10804",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10804",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10804",
                    "type": "synonym"
                }
            ],
            "record_id": "B7Z122-1",
            "evidence": [
                {
                    "id": "0081212",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081212"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081212"
}