{
    "disease_id": "DOID:0111667",
    "recommended_name": {
        "id": "DOID:0111667",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111667",
        "name": "enterokinase deficiency",
        "description": "An intestinal disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption that has_material_basis_in homozygous or compound heterozygous mutation in TMPRSS15 on chromosome 21q21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111667",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111667",
            "name": "congenital enterokinase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111667",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111667",
            "name": "deficiency of enteropeptidase",
            "description": ""
        },
        {
            "id": "DOID:0111667",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111667",
            "name": "congenital enteropathy due to enteropeptidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009173",
            "name": "congenital enteropathy due to enteropeptidase deficiency",
            "description": "Congenital enteropathy due to enteropeptidase deficiency is a rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated."
        },
        {
            "id": "MONDO:0009173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009173",
            "name": "congenital enterokinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009173",
            "name": "enteropeptidase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009173",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009173",
            "name": "enterokinase deficiency",
            "description": ""
        },
        {
            "id": "MIM:226200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/226200",
            "name": "Enterokinase deficiency",
            "description": "Enterokinase deficiency"
        }
    ]
}