{
    "disease_id": "DOID:0070404",
    "recommended_name": {
        "id": "DOID:0070404",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070404",
        "name": "hypomyelinating leukodystrophy 17",
        "description": "A hypomyelinating leukodystrophy characterized by onset in early infancy of microcephaly and lack of overall development that has_material_basis_in homozygous mutation in the AIMP2 gene on chromosome 7p22."
    },
    "synonyms": [
        {
            "id": "DOID:0070404",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070404",
            "name": "HLD17",
            "description": ""
        },
        {
            "id": "MONDO:0054817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054817",
            "name": "leukodystrophy, hypomyelinating, 17",
            "description": ""
        },
        {
            "id": "MONDO:0054817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054817",
            "name": "leukodystrophy, hypomyelinating, 17",
            "description": ""
        },
        {
            "id": "MONDO:0054817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054817",
            "name": "HLD17",
            "description": ""
        },
        {
            "id": "MIM:618006",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618006",
            "name": "Leukodystrophy, hypomyelinating, 17",
            "description": "Leukodystrophy, hypomyelinating, 17"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070404"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070404",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070404",
            "categories": []
        },
        {
            "id": "MONDO:0054817",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054817",
            "categories": []
        },
        {
            "id": "MIM:618006",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618006",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8R010-1",
            "uniprot_ac": "Q8R010",
            "uniprot_id": "AIMP2_MOUSE",
            "refseq_ac": "NP_001165617",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aminoacyl tRNA synthase complex-interacting multifunctional protein 2",
                    "type": "recommended"
                },
                {
                    "name": "ARS interacting multifunctional protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Multisynthase complex auxiliary component p38",
                    "type": "synonym"
                },
                {
                    "name": "Protein JTV-1",
                    "type": "synonym"
                },
                {
                    "name": "aminoacyl tRNA synthase complex-interacting multifunctional protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "aminoacyl tRNA synthase complex-interacting multifunctional protein 2",
                    "type": "synonym"
                },
                {
                    "name": "multisynthase complex auxiliary component p38",
                    "type": "synonym"
                },
                {
                    "name": "multisynthetase complex auxiliary component p38",
                    "type": "synonym"
                },
                {
                    "name": "protein JTV-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aimp2",
                    "type": "recommended"
                },
                {
                    "name": "Aimp2(p38)",
                    "type": "synonym"
                },
                {
                    "name": "Aimp2",
                    "type": "synonym"
                },
                {
                    "name": "Jtv1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R010-1",
            "evidence": [
                {
                    "id": "0070404",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070404"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13155-1",
            "uniprot_ac": "Q13155",
            "uniprot_id": "AIMP2_HUMAN",
            "refseq_ac": "NP_006294",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aminoacyl tRNA synthase complex-interacting multifunctional protein 2",
                    "type": "recommended"
                },
                {
                    "name": "ARS-interacting multi-functional protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Multisynthase complex auxiliary component p38",
                    "type": "synonym"
                },
                {
                    "name": "Protein JTV-1",
                    "type": "synonym"
                },
                {
                    "name": "aminoacyl tRNA synthase complex-interacting multifunctional protein 2 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "aminoacyl tRNA synthase complex-interacting multifunctional protein 2",
                    "type": "synonym"
                },
                {
                    "name": "multisynthase complex auxiliary component p38",
                    "type": "synonym"
                },
                {
                    "name": "multisynthetase complex auxiliary component p38",
                    "type": "synonym"
                },
                {
                    "name": "protein JTV-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AIMP2",
                    "type": "recommended"
                },
                {
                    "name": "AIMP2",
                    "type": "synonym"
                },
                {
                    "name": "HLD17",
                    "type": "synonym"
                },
                {
                    "name": "JTV-1",
                    "type": "synonym"
                },
                {
                    "name": "JTV1",
                    "type": "synonym"
                },
                {
                    "name": "P38",
                    "type": "synonym"
                },
                {
                    "name": "PRO0992",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13155-1",
            "evidence": [
                {
                    "id": "618006",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618006"
                },
                {
                    "id": "0070404",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070404"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q32PX2-1",
            "uniprot_ac": "Q32PX2",
            "uniprot_id": "AIMP2_RAT",
            "refseq_ac": "NP_001032425",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aminoacyl tRNA synthase complex-interacting multifunctional protein 2",
                    "type": "recommended"
                },
                {
                    "name": "JTV1",
                    "type": "synonym"
                },
                {
                    "name": "Multisynthase complex auxiliary component p38",
                    "type": "synonym"
                },
                {
                    "name": "Protein JTV-1",
                    "type": "synonym"
                },
                {
                    "name": "aminoacyl tRNA synthase complex-interacting multifunctional protein 2",
                    "type": "synonym"
                },
                {
                    "name": "multisynthase complex auxiliary component p38",
                    "type": "synonym"
                },
                {
                    "name": "multisynthetase complex auxiliary component p38",
                    "type": "synonym"
                },
                {
                    "name": "protein JTV-1",
                    "type": "synonym"
                },
                {
                    "name": "rCG42778-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aimp2",
                    "type": "recommended"
                },
                {
                    "name": "Aimp2",
                    "type": "synonym"
                },
                {
                    "name": "Jtv1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q32PX2-1",
            "evidence": [
                {
                    "id": "0070404",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070404"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VUR3-1",
            "uniprot_ac": "Q9VUR3",
            "uniprot_id": "AIMP2_DROME",
            "refseq_ac": "NP_648782",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable aminoacyl tRNA synthase complex-interacting multifunctional protein 2",
                    "type": "recommended"
                },
                {
                    "name": "AIMP2-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG12304-PA",
                    "type": "synonym"
                },
                {
                    "name": "Probable multisynthase complex auxiliary component p38",
                    "type": "synonym"
                },
                {
                    "name": "aaRS-interacting multifunctional protein 2, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "aaRS-interacting multifunctional protein 2",
                    "type": "synonym"
                },
                {
                    "name": "aminoacyl-tRNA synthetase-interacting multifunctional protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AIMP2",
                    "type": "recommended"
                },
                {
                    "name": "AIMP2",
                    "type": "synonym"
                },
                {
                    "name": "CG12304",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12304",
                    "type": "synonym"
                },
                {
                    "name": "p38",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VUR3-1",
            "evidence": [
                {
                    "id": "0070404",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070404"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070404"
}