{
    "disease_id": "DOID:0070537",
    "recommended_name": {
        "id": "DOID:0070537",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070537",
        "name": "spastic tetraplegia, thin corpus callosum, and progressive microcephaly",
        "description": "An autosomal recessive intellectual developmental disorder characterized by neonatal or infantile onset of spastic tetraplegia, thin corpus callosum, progressive microcephaly, and severely impaired global development that has_material_basis_in homozygous or compound heterozygous mutation in the SLC1A4 gene on chromosome 2p14."
    },
    "synonyms": [
        {
            "id": "DOID:0070537",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070537",
            "name": "SPATCCM",
            "description": ""
        },
        {
            "id": "MONDO:0014725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014725",
            "name": "spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014725",
            "name": "ASCT1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014725",
            "name": "spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014725",
            "name": "spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014725",
            "name": "SPATCCM",
            "description": ""
        },
        {
            "id": "MIM:616657",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616657",
            "name": "Spastic tetraplegia, thin corpus callosum, and progressive microcephaly",
            "description": "Spastic tetraplegia, thin corpus callosum, and progressive microcephaly"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070537"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070537",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070537",
            "categories": []
        },
        {
            "id": "MONDO:0014725",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014725",
            "categories": []
        },
        {
            "id": "MIM:616657",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616657",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B5C4-1",
            "uniprot_ac": "A0ACD6B5C4",
            "uniprot_id": "A0ACD6B5C4_DANRE",
            "refseq_ac": "XP_005156843",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Amino acid transporter",
                    "type": "recommended"
                },
                {
                    "name": "neutral amino acid transporter A isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc1a4",
                    "type": "recommended"
                },
                {
                    "name": "si:zc101n13.5",
                    "type": "synonym"
                },
                {
                    "name": "slc1a4",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92817",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B5C4-1",
            "evidence": [
                {
                    "id": "0070537",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070537"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35874-1",
            "uniprot_ac": "O35874",
            "uniprot_id": "SATT_MOUSE",
            "refseq_ac": "NP_061349",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neutral amino acid transporter A",
                    "type": "recommended"
                },
                {
                    "name": "ASCT-1",
                    "type": "synonym"
                },
                {
                    "name": "Alanine/serine/cysteine/threonine transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 1 member 4",
                    "type": "synonym"
                },
                {
                    "name": "alanine/serine/cysteine/threonine transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "neutral amino acid transporter A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "neutral amino acid transporter A",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 1 member 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc1a4",
                    "type": "recommended"
                },
                {
                    "name": "ASCT-1",
                    "type": "synonym"
                },
                {
                    "name": "ASCT1",
                    "type": "synonym"
                },
                {
                    "name": "Asct1",
                    "type": "synonym"
                },
                {
                    "name": "SATT",
                    "type": "synonym"
                },
                {
                    "name": "Satt",
                    "type": "synonym"
                },
                {
                    "name": "Slc1a4",
                    "type": "synonym"
                }
            ],
            "record_id": "O35874-1",
            "evidence": [
                {
                    "id": "0070537",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070537"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43007-1",
            "uniprot_ac": "P43007",
            "uniprot_id": "SATT_HUMAN",
            "refseq_ac": "NP_001180422",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neutral amino acid transporter A",
                    "type": "recommended"
                },
                {
                    "name": "ASCT-1",
                    "type": "synonym"
                },
                {
                    "name": "Alanine/serine/cysteine/threonine transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 1 member 4",
                    "type": "synonym"
                },
                {
                    "name": "alanine/serine/cysteine/threonine transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "glutamate/neutral amino acid transporter",
                    "type": "synonym"
                },
                {
                    "name": "neutral amino acid transporter A isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "neutral amino acid transporter A",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 1 (glutamate/neutral amino acid transporter), member 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC1A4",
                    "type": "recommended"
                },
                {
                    "name": "ASCT1",
                    "type": "synonym"
                },
                {
                    "name": "SATT",
                    "type": "synonym"
                },
                {
                    "name": "SLC1A4",
                    "type": "synonym"
                },
                {
                    "name": "SPATCCM",
                    "type": "synonym"
                }
            ],
            "record_id": "P43007-1",
            "evidence": [
                {
                    "id": "616657",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616657"
                },
                {
                    "id": "0070537",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070537"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A6H2EJK0-1",
            "uniprot_ac": "A0A6H2EJK0",
            "uniprot_id": "A0A6H2EJK0_DROME",
            "refseq_ac": "NP_001369123",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Amino acid transporter",
                    "type": "recommended"
                },
                {
                    "name": "CG3747-PF",
                    "type": "synonym"
                },
                {
                    "name": "Eaat1-PF",
                    "type": "synonym"
                },
                {
                    "name": "drosophila glutamate transporter-1",
                    "type": "synonym"
                },
                {
                    "name": "excitatory amino acid transporter 1, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "excitatory amino acid transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent excitatory amino acid transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent glutamate transporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium-excitatory-glutamate-cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "vesicular glutamate transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eaat1",
                    "type": "recommended"
                },
                {
                    "name": "AF001784",
                    "type": "synonym"
                },
                {
                    "name": "CG3747",
                    "type": "synonym"
                },
                {
                    "name": "Dglt-1",
                    "type": "synonym"
                },
                {
                    "name": "Dglut-1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3747",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3747",
                    "type": "synonym"
                },
                {
                    "name": "EAAT1",
                    "type": "synonym"
                },
                {
                    "name": "EAAT",
                    "type": "synonym"
                },
                {
                    "name": "Eaat 1",
                    "type": "synonym"
                },
                {
                    "name": "Eaat1",
                    "type": "synonym"
                },
                {
                    "name": "GLUT",
                    "type": "synonym"
                },
                {
                    "name": "dEAAT1",
                    "type": "synonym"
                },
                {
                    "name": "dEAAT",
                    "type": "synonym"
                },
                {
                    "name": "dEaat1",
                    "type": "synonym"
                },
                {
                    "name": "eaat1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A6H2EJK0-1",
            "evidence": [
                {
                    "id": "0070537",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070537"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070537"
}