{
    "disease_id": "DOID:0112088",
    "recommended_name": {
        "id": "DOID:0112088",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112088",
        "name": "nuclear type mitochondrial complex I deficiency 21",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NUBPL gene on chromosome 14q12."
    },
    "synonyms": [
        {
            "id": "DOID:0112088",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112088",
            "name": "MC1DN21",
            "description": ""
        },
        {
            "id": "MONDO:0032625",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032625",
            "name": "mitochondrial complex I deficiency, nuclear type 21",
            "description": ""
        },
        {
            "id": "MONDO:0032625",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032625",
            "name": "MC1DN21",
            "description": ""
        },
        {
            "id": "MIM:618242",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618242",
            "name": "Mitochondrial complex I deficiency, nuclear type 21",
            "description": "Mitochondrial complex I deficiency, nuclear type 21"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112088"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112088",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112088",
            "categories": []
        },
        {
            "id": "MONDO:0032625",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032625",
            "categories": []
        },
        {
            "id": "MIM:618242",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618242",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9CWD8-1",
            "uniprot_ac": "Q9CWD8",
            "uniprot_id": "NUBPL_MOUSE",
            "refseq_ac": "NP_084036",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Iron-sulfur cluster transfer protein NUBPL",
                    "type": "recommended"
                },
                {
                    "name": "Nucleotide-binding protein-like",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster transfer protein NUBPL precursor",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster transfer protein NUBPL",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur protein NUBPL",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nubpl",
                    "type": "recommended"
                },
                {
                    "name": "2410170E07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Nubpl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CWD8-1",
            "evidence": [
                {
                    "id": "0112088",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112088"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TB37-1",
            "uniprot_ac": "Q8TB37",
            "uniprot_id": "NUBPL_HUMAN",
            "refseq_ac": "NP_001188502",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Iron-sulfur cluster transfer protein NUBPL",
                    "type": "recommended"
                },
                {
                    "name": "IND1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Nucleotide-binding protein-like",
                    "type": "synonym"
                },
                {
                    "name": "huInd1",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster transfer protein NUBPL isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster transfer protein NUBPL",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur protein required for NADH dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "nucleotide binding protein like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NUBPL",
                    "type": "recommended"
                },
                {
                    "name": "C14orf127",
                    "type": "synonym"
                },
                {
                    "name": "IND1",
                    "type": "synonym"
                },
                {
                    "name": "MC1DN21",
                    "type": "synonym"
                },
                {
                    "name": "NUBPL",
                    "type": "synonym"
                },
                {
                    "name": "huInd1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TB37-1",
            "evidence": [
                {
                    "id": "618242",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618242"
                },
                {
                    "id": "0112088",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112088"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6ARC8-1",
            "uniprot_ac": "A0A8I6ARC8",
            "uniprot_id": "A0A8I6ARC8_RAT",
            "refseq_ac": "NP_001171954",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Iron-sulfur cluster transfer protein NUBPL",
                    "type": "recommended"
                },
                {
                    "name": "NUBP iron-sulfur cluster assembly factor like",
                    "type": "synonym"
                },
                {
                    "name": "Nucleotide-binding protein-like",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster transfer protein NUBPL precursor",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur cluster transfer protein NUBPL",
                    "type": "synonym"
                },
                {
                    "name": "iron-sulfur protein NUBPL",
                    "type": "synonym"
                },
                {
                    "name": "nucleotide binding protein-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nubpl",
                    "type": "recommended"
                },
                {
                    "name": "Nubpl",
                    "type": "synonym"
                },
                {
                    "name": "RGD1307232",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6ARC8-1",
            "evidence": [
                {
                    "id": "0112088",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112088"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V9M8-1",
            "uniprot_ac": "Q9V9M8",
            "uniprot_id": "NUBPL_DROME",
            "refseq_ac": "NP_724389",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Iron-sulfur cluster transfer protein Nubpl",
                    "type": "recommended"
                },
                {
                    "name": "CG3262-PF",
                    "type": "synonym"
                },
                {
                    "name": "NUBP iron-sulfur cluster assembly factor, mitochondrial, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "Nubpl-PF",
                    "type": "synonym"
                },
                {
                    "name": "Nucleotide binding protein-like",
                    "type": "synonym"
                },
                {
                    "name": "nucleotide-binding protein-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nubpl",
                    "type": "recommended"
                },
                {
                    "name": "CG3262",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3262",
                    "type": "synonym"
                },
                {
                    "name": "NUBPL",
                    "type": "synonym"
                },
                {
                    "name": "Nubpl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V9M8-1",
            "evidence": [
                {
                    "id": "0112088",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112088"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112088"
}