{
    "disease_id": "DOID:1060",
    "recommended_name": {
        "id": "DOID:1060",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:1060",
        "name": "Hartnup disease",
        "description": "An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum."
    },
    "synonyms": [
        {
            "id": "DOID:1060",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:1060",
            "name": "Neutral 1 amino acid transport defect",
            "description": ""
        },
        {
            "id": "DOID:1060",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:1060",
            "name": "deficiency of tryptophan oxygenase",
            "description": ""
        },
        {
            "id": "DOID:1060",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:1060",
            "name": "neutral amino acid transport defect",
            "description": ""
        },
        {
            "id": "MONDO:0009324",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009324",
            "name": "Hartnup disease",
            "description": "Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine)."
        },
        {
            "id": "MONDO:0009324",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009324",
            "name": "Hartnup disorder; HND",
            "description": ""
        },
        {
            "id": "MONDO:0009324",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009324",
            "name": "neutral amino acid transport defect",
            "description": ""
        },
        {
            "id": "MONDO:0009324",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009324",
            "name": "Hartnup disease",
            "description": ""
        },
        {
            "id": "MONDO:0009324",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009324",
            "name": "neutral 1 amino acid transport defect",
            "description": ""
        },
        {
            "id": "MONDO:0009324",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009324",
            "name": "deficiency of tryptophan oxygenase",
            "description": ""
        },
        {
            "id": "MONDO:0009324",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009324",
            "name": "Hartnup disorder",
            "description": ""
        },
        {
            "id": "MONDO:0009324",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009324",
            "name": "aminoaciduria, Hartnup type",
            "description": ""
        },
        {
            "id": "MONDO:0009324",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009324",
            "name": "HND",
            "description": ""
        },
        {
            "id": "MIM:234500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/234500",
            "name": "Hartnup disorder",
            "description": "Hartnup disorder"
        }
    ]
}
