{
    "disease_id": "DOID:0060790",
    "recommended_name": {
        "id": "DOID:0060790",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060790",
        "name": "hypomyelinating leukodystrophy 3",
        "description": "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24."
    },
    "synonyms": [
        {
            "id": "DOID:0060790",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060790",
            "name": "Pelizaeus-Merzbacher-like disease due to AIMP1 mutation",
            "description": ""
        },
        {
            "id": "DOID:0060790",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060790",
            "name": "HLD3",
            "description": ""
        },
        {
            "id": "MONDO:0009843",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009843",
            "name": "hypomyelinating leukodystrophy 3",
            "description": "Any leukodystrophy in which the cause of the disease is a mutation in the AIMP1 gene."
        },
        {
            "id": "MONDO:0009843",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009843",
            "name": "AIMP1 leukodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009843",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009843",
            "name": "HLD3",
            "description": ""
        },
        {
            "id": "MONDO:0009843",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009843",
            "name": "Pelizaeus-Merzbacher-like disease due to AIMP1 mutation",
            "description": ""
        },
        {
            "id": "MONDO:0009843",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009843",
            "name": "hypomyelinating leukodystrophy 3",
            "description": ""
        },
        {
            "id": "MONDO:0009843",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009843",
            "name": "hypomyelinating leukodystrophy type 3",
            "description": ""
        },
        {
            "id": "MONDO:0009843",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009843",
            "name": "leukodystrophy caused by mutation in AIMP1",
            "description": ""
        },
        {
            "id": "MONDO:0009843",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009843",
            "name": "leukodystrophy, hypomyelinating, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0009843",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009843",
            "name": "leukodystrophy, hypomyelinating 3",
            "description": ""
        },
        {
            "id": "MONDO:0009843",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009843",
            "name": "leukodystrophy, hypomyelinating, 3",
            "description": ""
        },
        {
            "id": "MONDO:0009843",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009843",
            "name": "perinatal Sudanophilic leukodystrophy",
            "description": ""
        },
        {
            "id": "MIM:260600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/260600",
            "name": "Leukodystrophy, hypomyelinating, 3",
            "description": "Leukodystrophy, hypomyelinating, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060790"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060790",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060790",
            "categories": []
        },
        {
            "id": "MONDO:0009843",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009843",
            "categories": []
        },
        {
            "id": "MIM:260600",
            "database": "MIM",
            "url": "https://www.omim.org/entry/260600",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TE84-1",
            "uniprot_ac": "A0AB32TE84",
            "uniprot_id": "A0AB32TE84_DANRE",
            "refseq_ac": "NP_001008592",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein LOC494049",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "aimp1b",
                    "type": "recommended"
                },
                {
                    "name": "aimp1b",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101853",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TE84-1",
            "evidence": [
                {
                    "id": "0060790",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060790"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31230-1",
            "uniprot_ac": "P31230",
            "uniprot_id": "AIMP1_MOUSE",
            "refseq_ac": "NP_001355555",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "ARS inducible multifunctional protein 1",
                    "type": "synonym"
                },
                {
                    "name": "EMAP-II",
                    "type": "synonym"
                },
                {
                    "name": "Endothelial monocyte-activating polypeptide II",
                    "type": "synonym"
                },
                {
                    "name": "Multisynthase complex auxiliary component p43",
                    "type": "synonym"
                },
                {
                    "name": "Small inducible cytokine subfamily E member 1",
                    "type": "synonym"
                },
                {
                    "name": "aminoacyl tRNA synthase complex-interacting multifunctional protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "aminoacyl tRNA synthase complex-interacting multifunctional protein 1",
                    "type": "synonym"
                },
                {
                    "name": "endothelial monocyte activating polypeptide 2",
                    "type": "synonym"
                },
                {
                    "name": "multisynthase complex auxiliary component p43",
                    "type": "synonym"
                },
                {
                    "name": "multisynthetase complex auxiliary component p43",
                    "type": "synonym"
                },
                {
                    "name": "small inducible cytokine subfamily E, member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aimp1",
                    "type": "recommended"
                },
                {
                    "name": "9830137A06Rik",
                    "type": "synonym"
                },
                {
                    "name": "AIMP1/p43",
                    "type": "synonym"
                },
                {
                    "name": "Aimp1",
                    "type": "synonym"
                },
                {
                    "name": "EMAPII",
                    "type": "synonym"
                },
                {
                    "name": "Emap2",
                    "type": "synonym"
                },
                {
                    "name": "Scye1",
                    "type": "synonym"
                },
                {
                    "name": "p43",
                    "type": "synonym"
                }
            ],
            "record_id": "P31230-1",
            "evidence": [
                {
                    "id": "0060790",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060790"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12904-1",
            "uniprot_ac": "Q12904",
            "uniprot_id": "AIMP1_HUMAN",
            "refseq_ac": "NP_001135887",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "ARS-interacting multifunctional protein 1",
                    "type": "synonym"
                },
                {
                    "name": "EMAP-II",
                    "type": "synonym"
                },
                {
                    "name": "Endothelial monocyte-activating polypeptide II",
                    "type": "synonym"
                },
                {
                    "name": "Multisynthase complex auxiliary component p43",
                    "type": "synonym"
                },
                {
                    "name": "Small inducible cytokine subfamily E member 1",
                    "type": "synonym"
                },
                {
                    "name": "aminoacyl tRNA synthase complex-interacting multifunctional protein 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "aminoacyl tRNA synthase complex-interacting multifunctional protein 1",
                    "type": "synonym"
                },
                {
                    "name": "endothelial monocyte-activating polypeptide 2",
                    "type": "synonym"
                },
                {
                    "name": "endothelial-monocyte activating polypeptide II",
                    "type": "synonym"
                },
                {
                    "name": "multisynthase complex auxiliary component p43",
                    "type": "synonym"
                },
                {
                    "name": "multisynthetase complex auxiliary component p43",
                    "type": "synonym"
                },
                {
                    "name": "small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AIMP1",
                    "type": "recommended"
                },
                {
                    "name": "AIMP1",
                    "type": "synonym"
                },
                {
                    "name": "EMAP2",
                    "type": "synonym"
                },
                {
                    "name": "EMAPII",
                    "type": "synonym"
                },
                {
                    "name": "HLD3",
                    "type": "synonym"
                },
                {
                    "name": "SCYE1",
                    "type": "synonym"
                },
                {
                    "name": "p43",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12904-1",
            "evidence": [
                {
                    "id": "260600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/260600"
                },
                {
                    "id": "0060790",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060790"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46672-1",
            "uniprot_ac": "P46672",
            "uniprot_id": "ARC1_YEAST",
            "refseq_ac": "NP_011410",
            "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": "tRNA-aminoacylation cofactor ARC1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Acyl-RNA-complex protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Arc1p",
                    "type": "synonym"
                },
                {
                    "name": "G4p1 protein",
                    "type": "synonym"
                },
                {
                    "name": "GU4 nucleic-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "P42",
                    "type": "synonym"
                },
                {
                    "name": "ScArc1p",
                    "type": "synonym"
                },
                {
                    "name": "tRNA-interacting factor ARC1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ARC1",
                    "type": "recommended"
                },
                {
                    "name": "ARC1",
                    "type": "synonym"
                },
                {
                    "name": "G3085",
                    "type": "synonym"
                },
                {
                    "name": "G4P1",
                    "type": "synonym"
                }
            ],
            "record_id": "P46672-1",
            "evidence": [
                {
                    "id": "0060790",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060790"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4G079-1",
            "uniprot_ac": "Q4G079",
            "uniprot_id": "Q4G079_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aminoacyl tRNA synthetase complex-interacting multifunctional protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aimp1",
                    "type": "recommended"
                }
            ],
            "record_id": "Q4G079-1",
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                {
                    "id": "0060790",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060790"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z7K8-1",
            "uniprot_ac": "A1Z7K8",
            "uniprot_id": "A1Z7K8_DROME",
            "refseq_ac": "NP_610426",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "AIMP1-PA",
                    "type": "synonym"
                },
                {
                    "name": "AaRS-interacting multifunctional protein 1",
                    "type": "synonym"
                },
                {
                    "name": "CG8235-PA",
                    "type": "synonym"
                },
                {
                    "name": "aaRS-interacting multifunctional protein 1",
                    "type": "synonym"
                },
                {
                    "name": "aminoacyl-tRNA synthetase-interacting multifunctional protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AIMP1",
                    "type": "recommended"
                },
                {
                    "name": "AIMP1",
                    "type": "synonym"
                },
                {
                    "name": "CG8235",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8235",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8235",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z7K8-1",
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                {
                    "id": "0060790",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060790"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060790"
}