{
    "disease_id": "DOID:0060439",
    "recommended_name": {
        "id": "DOID:0060439",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060439",
        "name": "lysinuric protein intolerance",
        "description": "An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11."
    },
    "synonyms": [
        {
            "id": "DOID:0060439",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060439",
            "name": "LPI",
            "description": ""
        },
        {
            "id": "DOID:0060439",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060439",
            "name": "dibasic amino aciduria II",
            "description": ""
        },
        {
            "id": "DOID:0060439",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060439",
            "name": "hyperdibasic aminoaciduria",
            "description": ""
        },
        {
            "id": "MONDO:0009109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009109",
            "name": "lysinuric protein intolerance",
            "description": "Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by disturbance in amino acid metabolism."
        },
        {
            "id": "MONDO:0009109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009109",
            "name": "LPI",
            "description": ""
        },
        {
            "id": "MONDO:0009109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009109",
            "name": "hyperdibasic aminoaciduria",
            "description": ""
        },
        {
            "id": "MONDO:0009109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009109",
            "name": "hyperdibasic aminoaciduria type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009109",
            "name": "lysinuric protein intolerance",
            "description": ""
        },
        {
            "id": "MONDO:0009109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009109",
            "name": "Dibasicamino aciduria II",
            "description": ""
        },
        {
            "id": "MONDO:0009109",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009109",
            "name": "dibasic aminoaciduria 2",
            "description": ""
        },
        {
            "id": "MIM:222700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/222700",
            "name": "Lysinuric protein intolerance",
            "description": "Lysinuric protein intolerance"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060439"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060439",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060439",
            "categories": []
        },
        {
            "id": "MONDO:0009109",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009109",
            "categories": []
        },
        {
            "id": "MIM:222700",
            "database": "MIM",
            "url": "https://www.omim.org/entry/222700",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1N819-1",
            "uniprot_ac": "A0A8M1N819",
            "uniprot_id": "A0A8M1N819_DANRE",
            "refseq_ac": "NP_001032648",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Y+L amino acid transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 7 (amino acid transporter light chain, y+L system), member 7",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 7 (cationic amino acid transporter, y+ system), member 7",
                    "type": "synonym"
                },
                {
                    "name": "unm t30713",
                    "type": "synonym"
                },
                {
                    "name": "unm_t30713",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc7a7",
                    "type": "recommended"
                },
                {
                    "name": "slc7a7",
                    "type": "synonym"
                },
                {
                    "name": "zgc:123300",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N819-1",
            "evidence": [
                {
                    "id": "0060439",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060439"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z1K8-1",
            "uniprot_ac": "Q9Z1K8",
            "uniprot_id": "YLAT1_MOUSE",
            "refseq_ac": "NP_001240608",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Y+L amino acid transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 7 member 7",
                    "type": "synonym"
                },
                {
                    "name": "Y+L amino acid transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Y+LAT1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 7 member 7",
                    "type": "synonym"
                },
                {
                    "name": "y(+)L-type amino acid transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "y+LAT-1",
                    "type": "synonym"
                },
                {
                    "name": "y+LAT1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc7a7",
                    "type": "recommended"
                },
                {
                    "name": "Slc7a7",
                    "type": "synonym"
                },
                {
                    "name": "my+lat1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z1K8-1",
            "evidence": [
                {
                    "id": "0060439",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060439"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UM01-1",
            "uniprot_ac": "Q9UM01",
            "uniprot_id": "YLAT1_HUMAN",
            "refseq_ac": "NP_001119577",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Y+L amino acid transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "MOP-2",
                    "type": "synonym"
                },
                {
                    "name": "Monocyte amino acid permease 2",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 7 member 7",
                    "type": "synonym"
                },
                {
                    "name": "Y+L amino acid transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Y+LAT1",
                    "type": "synonym"
                },
                {
                    "name": "lysinuric protein intolerance (dibasicaminoaciduria II)",
                    "type": "synonym"
                },
                {
                    "name": "monocyte amino acid permease 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 7 (amino acid transporter light chain, y+L system), member 7",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 7 (cationic amino acid transporter, y+ system), member 7",
                    "type": "synonym"
                },
                {
                    "name": "y(+)L-type amino acid transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "y+LAT-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC7A7",
                    "type": "recommended"
                },
                {
                    "name": "LAT3",
                    "type": "synonym"
                },
                {
                    "name": "LPI",
                    "type": "synonym"
                },
                {
                    "name": "MOP-2",
                    "type": "synonym"
                },
                {
                    "name": "SLC7A7",
                    "type": "synonym"
                },
                {
                    "name": "Y+LAT1",
                    "type": "synonym"
                },
                {
                    "name": "y+LAT-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UM01-1",
            "evidence": [
                {
                    "id": "222700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/222700"
                },
                {
                    "id": "0060439",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060439"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50276-1",
            "uniprot_ac": "P50276",
            "uniprot_id": "MUP1_YEAST",
            "refseq_ac": "NP_011569",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "High-affinity methionine permease",
                    "type": "recommended"
                },
                {
                    "name": "Mup1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MUP1",
                    "type": "recommended"
                },
                {
                    "name": "MUP1",
                    "type": "synonym"
                }
            ],
            "record_id": "P50276-1",
            "evidence": [
                {
                    "id": "0060439",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060439"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38734-1",
            "uniprot_ac": "P38734",
            "uniprot_id": "MUP3_YEAST",
            "refseq_ac": "NP_011827",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Low-affinity methionine permease",
                    "type": "recommended"
                },
                {
                    "name": "Mup3p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MUP3",
                    "type": "recommended"
                },
                {
                    "name": "MUP3",
                    "type": "synonym"
                }
            ],
            "record_id": "P38734-1",
            "evidence": [
                {
                    "id": "0060439",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060439"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R0S5-1",
            "uniprot_ac": "Q9R0S5",
            "uniprot_id": "YLAT1_RAT",
            "refseq_ac": "NP_112631",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Y+L amino acid transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 7 member 7",
                    "type": "synonym"
                },
                {
                    "name": "Y+L amino acid transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Y+LAT1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 7 (amino acid transporter light chain, y+L system), member 7",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 7 (cationic amino acid transporter, y+ system), member 7",
                    "type": "synonym"
                },
                {
                    "name": "y(+)L-type amino acid transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "y+LAT-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc7a7",
                    "type": "recommended"
                },
                {
                    "name": "Slc7a7",
                    "type": "synonym"
                },
                {
                    "name": "y+LAT1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R0S5-1",
            "evidence": [
                {
                    "id": "0060439",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060439"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4KHK8-1",
            "uniprot_ac": "A0A0B4KHK8",
            "uniprot_id": "A0A0B4KHK8_DROME",
            "refseq_ac": "NP_001263139",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Y+L amino acid transporter 2",
                    "type": "recommended"
                },
                {
                    "name": "CG1607-PC",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG1607",
                    "type": "recommended"
                },
                {
                    "name": "CG1607",
                    "type": "synonym"
                },
                {
                    "name": "Cg1607",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1607",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1607",
                    "type": "synonym"
                },
                {
                    "name": "cg1607",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4KHK8-1",
            "evidence": [
                {
                    "id": "0060439",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060439"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060439"
}