{
    "disease_id": "DOID:0070542",
    "recommended_name": {
        "id": "DOID:0070542",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070542",
        "name": "neurodevelopmental disorder with spastic paraplegia and microcephaly",
        "description": "An amino acid metabolic disorder characterized delayed psychomotor development with delayed walking, moderately to severely impaired intellectual development, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the GPT2 gene on chromosome 16q11.2. Postnatal microcephaly and spastic paraplegia are also common."
    },
    "synonyms": [
        {
            "id": "DOID:0070542",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070542",
            "name": "GPT2 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0070542",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070542",
            "name": "MRT49",
            "description": ""
        },
        {
            "id": "DOID:0070542",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070542",
            "name": "NEDSPM",
            "description": ""
        },
        {
            "id": "DOID:0070542",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070542",
            "name": "autosomal recessive mental retardation 49",
            "description": ""
        },
        {
            "id": "DOID:0070542",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070542",
            "name": "glutamate pyruvate transaminase 2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014567",
            "name": "glutamate pyruvate transaminase 2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014567",
            "name": "GPT2 Deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014567",
            "name": "GPT2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014567",
            "name": "glutamate pyruvate transaminase 2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014567",
            "name": "mental retardation, autosomal recessive 49",
            "description": ""
        },
        {
            "id": "MONDO:0014567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014567",
            "name": "mental retardation, autosomal recessive type 49",
            "description": ""
        },
        {
            "id": "MONDO:0014567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014567",
            "name": "neurodevelopmental disorder with microcephaly and spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0014567",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014567",
            "name": "postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MIM:616281",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616281",
            "name": "Neurodevelopmental disorder with spastic paraplegia and microcephaly",
            "description": "Neurodevelopmental disorder with spastic paraplegia and microcephaly"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070542"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070542",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070542",
            "categories": []
        },
        {
            "id": "MONDO:0014567",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014567",
            "categories": []
        },
        {
            "id": "MIM:616281",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616281",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1NDP9-1",
            "uniprot_ac": "A0A8M1NDP9",
            "uniprot_id": "A0A8M1NDP9_DANRE",
            "refseq_ac": "NP_001092227",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "alanine transaminase",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.2",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate pyruvate transaminase 2",
                    "type": "synonym"
                },
                {
                    "name": "Glutamic--alanine transaminase 2",
                    "type": "synonym"
                },
                {
                    "name": "Glutamic--pyruvic transaminase 2",
                    "type": "synonym"
                },
                {
                    "name": "alanine aminotransferase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gpt2",
                    "type": "recommended"
                },
                {
                    "name": "gpt2",
                    "type": "synonym"
                },
                {
                    "name": "im:7150662",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb580",
                    "type": "synonym"
                },
                {
                    "name": "zgc:165657",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NDP9-1",
            "evidence": [
                {
                    "id": "0070542",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070542"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BGT5-1",
            "uniprot_ac": "Q8BGT5",
            "uniprot_id": "ALAT2_MOUSE",
            "refseq_ac": "NP_776291",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alanine aminotransferase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.2",
                    "type": "synonym"
                },
                {
                    "name": "ALT2",
                    "type": "synonym"
                },
                {
                    "name": "GPT 2",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate pyruvate transaminase 2",
                    "type": "synonym"
                },
                {
                    "name": "Glutamic--alanine transaminase 2",
                    "type": "synonym"
                },
                {
                    "name": "Glutamic--pyruvic transaminase 2",
                    "type": "synonym"
                },
                {
                    "name": "alanine aminotransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "glutamate pyruvate transaminase 2",
                    "type": "synonym"
                },
                {
                    "name": "glutamic--alanine transaminase 2",
                    "type": "synonym"
                },
                {
                    "name": "glutamic--pyruvic transaminase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gpt2",
                    "type": "recommended"
                },
                {
                    "name": "4631422C05Rik",
                    "type": "synonym"
                },
                {
                    "name": "ALT2",
                    "type": "synonym"
                },
                {
                    "name": "Aat2",
                    "type": "synonym"
                },
                {
                    "name": "Gpt2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BGT5-1",
            "evidence": [
                {
                    "id": "0070542",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070542"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TD30-1",
            "uniprot_ac": "Q8TD30",
            "uniprot_id": "ALAT2_HUMAN",
            "refseq_ac": "NP_001135938",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alanine aminotransferase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.2",
                    "type": "synonym"
                },
                {
                    "name": "ALT2",
                    "type": "synonym"
                },
                {
                    "name": "GPT 2",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate pyruvate transaminase 2",
                    "type": "synonym"
                },
                {
                    "name": "Glutamic--alanine transaminase 2",
                    "type": "synonym"
                },
                {
                    "name": "Glutamic--pyruvic transaminase 2",
                    "type": "synonym"
                },
                {
                    "name": "alanine aminotransferase 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "glutamate pyruvate transaminase 2",
                    "type": "synonym"
                },
                {
                    "name": "glutamic pyruvate transaminase (alanine aminotransferase) 2",
                    "type": "synonym"
                },
                {
                    "name": "glutamic pyruvate transaminase 2",
                    "type": "synonym"
                },
                {
                    "name": "glutamic--alanine transaminase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GPT2",
                    "type": "recommended"
                },
                {
                    "name": "AAT2",
                    "type": "synonym"
                },
                {
                    "name": "ALT2",
                    "type": "synonym"
                },
                {
                    "name": "GPT 2",
                    "type": "synonym"
                },
                {
                    "name": "GPT2",
                    "type": "synonym"
                },
                {
                    "name": "MRT49",
                    "type": "synonym"
                },
                {
                    "name": "NEDSPM",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TD30-1",
            "evidence": [
                {
                    "id": "616281",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616281"
                },
                {
                    "id": "0070542",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070542"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52893-1",
            "uniprot_ac": "P52893",
            "uniprot_id": "ALAT1_YEAST",
            "refseq_ac": "NP_013190",
            "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": "Alanine aminotransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.2",
                    "type": "synonym"
                },
                {
                    "name": "GPT",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate pyruvate transaminase",
                    "type": "synonym"
                },
                {
                    "name": "Glutamic--alanine transaminase",
                    "type": "synonym"
                },
                {
                    "name": "Glutamic--pyruvic transaminase",
                    "type": "synonym"
                },
                {
                    "name": "alanine transaminase ALT1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALT1",
                    "type": "recommended"
                },
                {
                    "name": "ALT1",
                    "type": "synonym"
                },
                {
                    "name": "L9449.15",
                    "type": "synonym"
                }
            ],
            "record_id": "P52893-1",
            "evidence": [
                {
                    "id": "0070542",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070542"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52892-1",
            "uniprot_ac": "P52892",
            "uniprot_id": "ALAT2_YEAST",
            "refseq_ac": "NP_010396",
            "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": "Inactive alanine aminotransferase",
                    "type": "recommended"
                },
                {
                    "name": "GPT",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate pyruvate transaminase",
                    "type": "synonym"
                },
                {
                    "name": "Glutamic--alanine transaminase",
                    "type": "synonym"
                },
                {
                    "name": "Glutamic--pyruvic transaminase",
                    "type": "synonym"
                },
                {
                    "name": "alanine transaminase ALT2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALT2",
                    "type": "recommended"
                },
                {
                    "name": "ALT2",
                    "type": "synonym"
                },
                {
                    "name": "YD9727.07C",
                    "type": "synonym"
                }
            ],
            "record_id": "P52892-1",
            "evidence": [
                {
                    "id": "0070542",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070542"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VYD9-1",
            "uniprot_ac": "Q9VYD9",
            "uniprot_id": "Q9VYD9_DROME",
            "refseq_ac": "NP_727696",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "alanine transaminase",
                    "type": "recommended"
                },
                {
                    "name": "2.6.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CG1640-PB",
                    "type": "synonym"
                },
                {
                    "name": "alanine aminotransferase",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Alat",
                    "type": "recommended"
                },
                {
                    "name": "ALT",
                    "type": "synonym"
                },
                {
                    "name": "CG1640",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1640",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1640",
                    "type": "synonym"
                },
                {
                    "name": "cg1640",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VYD9-1",
            "evidence": [
                {
                    "id": "0070542",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070542"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070542"
}