{
    "disease_id": "DOID:0111540",
    "recommended_name": {
        "id": "DOID:0111540",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111540",
        "name": "prolidase deficiency",
        "description": "An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in the PEPD gene on chromosome 19q13.11."
    },
    "synonyms": [
        {
            "id": "DOID:0111540",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111540",
            "name": "hyperimidodipeptiduria",
            "description": ""
        },
        {
            "id": "DOID:0111540",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111540",
            "name": "imidodipeptidase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111540",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111540",
            "name": "peptidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008221",
            "name": "prolidase deficiency",
            "description": "An inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly."
        },
        {
            "id": "MONDO:0008221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008221",
            "name": "hyperimidodipeptiduria",
            "description": ""
        },
        {
            "id": "MONDO:0008221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008221",
            "name": "prolidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008221",
            "name": "Imidodipeptidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008221",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008221",
            "name": "Peptidase deficiency",
            "description": ""
        },
        {
            "id": "MIM:170100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/170100",
            "name": "Prolidase deficiency",
            "description": "Prolidase deficiency"
        }
    ]
}