{
    "disease_id": "DOID:0070531",
    "recommended_name": {
        "id": "DOID:0070531",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070531",
        "name": "foveal hypoplasia 2",
        "description": "A retinal disease characterized by foveal hypoplasia with decreased visual acuity and nystagmus that has_material_basis_in homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23.3. Optic nerve decussation defects and anterior segment dysgenesis are also frequently seen."
    },
    "synonyms": [
        {
            "id": "DOID:0070531",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070531",
            "name": "FVH2",
            "description": ""
        },
        {
            "id": "DOID:0070531",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070531",
            "name": "foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis",
            "description": ""
        },
        {
            "id": "MONDO:0012216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012216",
            "name": "foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012216",
            "name": "FHONDA syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012216",
            "name": "foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012216",
            "name": "foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis",
            "description": ""
        },
        {
            "id": "MONDO:0012216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012216",
            "name": "foveal hypoplasia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012216",
            "name": "FVH2",
            "description": ""
        },
        {
            "id": "MONDO:0012216",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012216",
            "name": "foveal hypoplasia 2",
            "description": ""
        },
        {
            "id": "MIM:609218",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609218",
            "name": "Foveal hypoplasia 2",
            "description": "Foveal hypoplasia 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070531"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070531",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070531",
            "categories": []
        },
        {
            "id": "MONDO:0012216",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012216",
            "categories": []
        },
        {
            "id": "MIM:609218",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609218",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58G4J0-1",
            "uniprot_ac": "A0AC58G4J0",
            "uniprot_id": "A0AC58G4J0_DANRE",
            "refseq_ac": "XP_073764642",
            "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 8 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "putative sodium-coupled neutral amino acid transporter 8 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc38a8b",
                    "type": "recommended"
                },
                {
                    "name": "slc38a8b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58G4J0-1",
            "evidence": [
                {
                    "id": "0070531",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070531"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A5WVQ9-1",
            "uniprot_ac": "A5WVQ9",
            "uniprot_id": "A5WVQ9_DANRE",
            "refseq_ac": "NP_001138287",
            "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 8a",
                    "type": "synonym"
                },
                {
                    "name": "putative sodium-coupled neutral amino acid transporter 8a",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 38, member 8",
                    "type": "synonym"
                },
                {
                    "name": "zmp:0000000533",
                    "type": "synonym"
                },
                {
                    "name": "zmp:0000001044",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc38a8a",
                    "type": "recommended"
                },
                {
                    "name": "slc38a8a",
                    "type": "synonym"
                },
                {
                    "name": "slc38a8",
                    "type": "synonym"
                }
            ],
            "record_id": "A5WVQ9-1",
            "evidence": [
                {
                    "id": "0070531",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070531"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5HZH7-1",
            "uniprot_ac": "Q5HZH7",
            "uniprot_id": "S38A8_MOUSE",
            "refseq_ac": "NP_001009950",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 38 member 8",
                    "type": "recommended"
                },
                {
                    "name": "Amino acid transporter SLC38A8",
                    "type": "synonym"
                },
                {
                    "name": "amino acid transporter SLC38A8",
                    "type": "synonym"
                },
                {
                    "name": "putative sodium-coupled neutral amino acid transporter 8",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 38 member 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc38a8",
                    "type": "recommended"
                },
                {
                    "name": "Gm587",
                    "type": "synonym"
                },
                {
                    "name": "Slc38a8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5HZH7-1",
            "evidence": [
                {
                    "id": "0070531",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070531"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A6NNN8-1",
            "uniprot_ac": "A6NNN8",
            "uniprot_id": "S38A8_HUMAN",
            "refseq_ac": "NP_001073911",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 38 member 8",
                    "type": "recommended"
                },
                {
                    "name": "Amino acid transporter SLC38A8",
                    "type": "synonym"
                },
                {
                    "name": "amino acid transporter SLC38A8",
                    "type": "synonym"
                },
                {
                    "name": "putative sodium-coupled neutral amino acid transporter 8",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 38 member 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC38A8",
                    "type": "recommended"
                },
                {
                    "name": "FHASD",
                    "type": "synonym"
                },
                {
                    "name": "FVH2",
                    "type": "synonym"
                },
                {
                    "name": "SLC38A8",
                    "type": "synonym"
                },
                {
                    "name": "SNAT8",
                    "type": "synonym"
                }
            ],
            "record_id": "A6NNN8-1",
            "evidence": [
                {
                    "id": "609218",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609218"
                },
                {
                    "id": "0070531",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070531"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40074-1",
            "uniprot_ac": "P40074",
            "uniprot_id": "AVT6_YEAST",
            "refseq_ac": "NP_011044",
            "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": "Vacuolar amino acid transporter 6",
                    "type": "recommended"
                },
                {
                    "name": "aspartate/glutamate transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AVT6",
                    "type": "recommended"
                },
                {
                    "name": "AVT6",
                    "type": "synonym"
                }
            ],
            "record_id": "P40074-1",
            "evidence": [
                {
                    "id": "0070531",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070531"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40501-1",
            "uniprot_ac": "P40501",
            "uniprot_id": "AVT7_YEAST",
            "refseq_ac": "NP_012178",
            "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": "Vacuolar amino acid transporter 7",
                    "type": "recommended"
                },
                {
                    "name": "Avt7p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AVT7",
                    "type": "recommended"
                },
                {
                    "name": "AVT7",
                    "type": "synonym"
                }
            ],
            "record_id": "P40501-1",
            "evidence": [
                {
                    "id": "0070531",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070531"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A0Y7-1",
            "uniprot_ac": "D4A0Y7",
            "uniprot_id": "D4A0Y7_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 38, member 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc38a8",
                    "type": "recommended"
                }
            ],
            "record_id": "D4A0Y7-1",
            "evidence": [
                {
                    "id": "0070531",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070531"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070531"
}