{
    "disease_id": "DOID:0090145",
    "recommended_name": {
        "id": "DOID:0090145",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090145",
        "name": "dopamine beta-hydroxylase deficiency",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0090145",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090145",
            "name": "congenital dopamine beta-hydroxylase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090145",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090145",
            "name": "noradrenaline deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090145",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090145",
            "name": "norepinephrine deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009123",
            "name": "orthostatic hypotension 1",
            "description": "A very rare primary monoamine neurotransmitter synthesis disorder with norepinephrine and adrenaline deficiency that leads to young-onset severe orthostatic hypotension and eyelid ptosis."
        },
        {
            "id": "MONDO:0009123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009123",
            "name": "dopamine beta-hydroxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009123",
            "name": "noradrenaline deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009123",
            "name": "norepinephrine deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009123",
            "name": "orthostatic hypotension 1, due to DBH deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009123",
            "name": "dopamine beta hydroxylase deficiency",
            "description": ""
        },
        {
            "id": "MIM:223360",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/223360",
            "name": "Orthostatic hypotension 1",
            "description": "Orthostatic hypotension 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090145"
    ],
    "unlinked_id_list": []
}