{
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009123", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009123", 
            "name": "dopamine beta hydroxylase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009123", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009123", 
            "name": "dopamine BETA-HYDROXYLASE deficiency, congenital"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009123", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009123", 
            "name": "norepinephrine deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009123", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009123", 
            "name": "congenital dopamine beta-hydroxylase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009123", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009123", 
            "name": "noradrenaline deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090145", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090145", 
            "name": "congenital dopamine beta-hydroxylase deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090145", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090145", 
            "name": "noradrenaline deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0090145", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0090145", 
            "name": "norepinephrine deficiency"
        }, 
        {
            "url": "https://www.omim.org/entry/223360", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:223360", 
            "name": "Orthostatic hypotension 1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0090145", 
        "description": "An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopamine beta-hydroxylase gene (DBH) on chromosome 9q34.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0090145", 
        "name": "dopamine beta-hydroxylase deficiency"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/223360", 
            "id": "223360", 
            "database": "MIM"
        }
    ]
}
