{
    "disease_id": "DOID:0111469",
    "recommended_name": {
        "id": "DOID:0111469",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111469",
        "name": "combined oxidative phosphorylation deficiency 16",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL44 gene on chromosome 2q36.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111469",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111469",
            "name": "COXPD16",
            "description": ""
        },
        {
            "id": "DOID:0111469",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111469",
            "name": "infantile hypertrophic cardiomyopathy due to MRPL44 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014162",
            "name": "infantile hypertrophic cardiomyopathy due to MRPL44 deficiency",
            "description": "Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life."
        },
        {
            "id": "MONDO:0014162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014162",
            "name": "COXPD16",
            "description": ""
        },
        {
            "id": "MONDO:0014162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014162",
            "name": "MRPL44 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014162",
            "name": "combined oxidative phosphorylation defect type 16",
            "description": ""
        },
        {
            "id": "MONDO:0014162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014162",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in MRPL44",
            "description": ""
        },
        {
            "id": "MONDO:0014162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014162",
            "name": "combined oxidative phosphorylation deficiency type 16",
            "description": ""
        },
        {
            "id": "MONDO:0014162",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014162",
            "name": "combined oxidative phosphorylation deficiency 16",
            "description": ""
        },
        {
            "id": "MIM:615395",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615395",
            "name": "Combined oxidative phosphorylation deficiency 16",
            "description": "Combined oxidative phosphorylation deficiency 16"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111469"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111469",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111469",
            "categories": []
        },
        {
            "id": "MONDO:0014162",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014162",
            "categories": []
        },
        {
            "id": "MIM:615395",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615395",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1RB48-1",
            "uniprot_ac": "F1RB48",
            "uniprot_id": "F1RB48_DANRE",
            "refseq_ac": "NP_001025431",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein mL44",
                    "type": "recommended"
                },
                {
                    "name": "39S ribosomal protein L44, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein mL44",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mrpl44",
                    "type": "recommended"
                },
                {
                    "name": "mrpl44",
                    "type": "synonym"
                },
                {
                    "name": "zgc:114114",
                    "type": "synonym"
                }
            ],
            "record_id": "F1RB48-1",
            "evidence": [
                {
                    "id": "0111469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CY73-1",
            "uniprot_ac": "Q9CY73",
            "uniprot_id": "RM44_MOUSE",
            "refseq_ac": "NP_001074679",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein mL44",
                    "type": "recommended"
                },
                {
                    "name": "39S ribosomal protein L44, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "L44mt",
                    "type": "synonym"
                },
                {
                    "name": "MRP-L44",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein mL44 precursor",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein mL44",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mrpl44",
                    "type": "recommended"
                },
                {
                    "name": "1810030E18Rik",
                    "type": "synonym"
                },
                {
                    "name": "5730593H20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mrpl44",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CY73-1",
            "evidence": [
                {
                    "id": "0111469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H9J2-1",
            "uniprot_ac": "Q9H9J2",
            "uniprot_id": "RM44_HUMAN",
            "refseq_ac": "NP_075066",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein mL44",
                    "type": "recommended"
                },
                {
                    "name": "39S ribosomal protein L44, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "L44mt",
                    "type": "synonym"
                },
                {
                    "name": "MRP-L44",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein mL44",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial large ribosomal subunit protein mL44",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MRPL44",
                    "type": "recommended"
                },
                {
                    "name": "COXPD16",
                    "type": "synonym"
                },
                {
                    "name": "L44MT",
                    "type": "synonym"
                },
                {
                    "name": "MRP-L44",
                    "type": "synonym"
                },
                {
                    "name": "MRPL44",
                    "type": "synonym"
                },
                {
                    "name": "mL44",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H9J2-1",
            "evidence": [
                {
                    "id": "615395",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615395"
                },
                {
                    "id": "0111469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36516-1",
            "uniprot_ac": "P36516",
            "uniprot_id": "RM03_YEAST",
            "refseq_ac": "NP_013737",
            "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": "Large ribosomal subunit protein mL44",
                    "type": "recommended"
                },
                {
                    "name": "54S ribosomal protein L3, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "YmL3",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial 54S ribosomal protein mL44 MRPL3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MRPL3",
                    "type": "recommended"
                },
                {
                    "name": "MRPL3",
                    "type": "synonym"
                },
                {
                    "name": "YM9711.14",
                    "type": "synonym"
                },
                {
                    "name": "mL44",
                    "type": "synonym"
                }
            ],
            "record_id": "P36516-1",
            "evidence": [
                {
                    "id": "0111469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111469"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VNC1-1",
            "uniprot_ac": "Q9VNC1",
            "uniprot_id": "Q9VNC1_DROME",
            "refseq_ac": "NP_649541",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein mL44",
                    "type": "recommended"
                },
                {
                    "name": "CG2109-PA",
                    "type": "synonym"
                },
                {
                    "name": "mRpL44-PA",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ribosomal protein L44",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mRpL44",
                    "type": "recommended"
                },
                {
                    "name": "CG2109",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2109",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2109",
                    "type": "synonym"
                },
                {
                    "name": "MRP-L44",
                    "type": "synonym"
                },
                {
                    "name": "mRpL44",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VNC1-1",
            "evidence": [
                {
                    "id": "0111469",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111469"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111469"
}