{
    "disease_id": "DOID:0080108",
    "recommended_name": {
        "id": "DOID:0080108",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080108",
        "name": "myoglobinuria",
        "description": "A myopathy that is characterized by an increased urinary excretion of myoglobin."
    },
    "synonyms": [
        {
            "id": "MONDO:0009992",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009992",
            "name": "myoglobinuria, acute recurrent, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009992",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009992",
            "name": "myoglobinuria, acute recurrent, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009992",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009992",
            "name": "myoglobinuria, familial paroxysmal paralytic",
            "description": ""
        },
        {
            "id": "MONDO:0009992",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009992",
            "name": "rhabdomyolysis, acute recurrent",
            "description": ""
        },
        {
            "id": "MONDO:0010791",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010791",
            "name": "myoglobinuria, recurrent",
            "description": "Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. Epidemiology The exact prevalence remains unknown. Clinical description In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection (febrile illness). Hypertonia, muscle stiffness and muscle pain, impaired kidney function and elevated levels of serum creatine kinase are common clinical features. Etiology Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes ( MT-CO1 and MT-CO2 ) should be considered in patients with recurrent myoglobinuria. Recently, mutations in the LPIN1 gene (chromosome 2p21) have been reported to have a causative role in three patients with recurrent episodes of myoglobinuria, originating from consanguineous families. Genetic counseling The disorder may occur sporadically, or be inherited in either a recessive or dominant manner."
        },
        {
            "id": "MONDO:0010791",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010791",
            "name": "myoglobinuria, recurrent",
            "description": ""
        },
        {
            "id": "MONDO:0010791",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010791",
            "name": "myoglobinuria recurrent",
            "description": ""
        },
        {
            "id": "MONDO:0008046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008046",
            "name": "autosomal dominant myoglobinuria",
            "description": "Autosomal dominant myoglobinuria is a rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997."
        },
        {
            "id": "MONDO:0008046",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008046",
            "name": "myoglobinuria, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:268200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/268200",
            "name": "Myoglobinuria, acute recurrent, autosomal recessive",
            "description": "Myoglobinuria, acute recurrent, autosomal recessive"
        },
        {
            "id": "MIM:550500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/550500",
            "name": "Recurrent myoglobinuria mitochondrial",
            "description": "Recurrent myoglobinuria mitochondrial"
        }
    ]
}