{
    "disease_id": "DOID:0080543",
    "recommended_name": {
        "id": "DOID:0080543",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080543",
        "name": "hyperprolinemia type 2",
        "description": "A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "DOID:0080543",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080543",
            "name": "hyperprolinemia type II",
            "description": ""
        },
        {
            "id": "MONDO:0009401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009401",
            "name": "hyperprolinemia type 2",
            "description": "Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay."
        },
        {
            "id": "MONDO:0009401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009401",
            "name": "1-pyrroline-5-carboxylate dehydrogenase activity disease",
            "description": ""
        },
        {
            "id": "MONDO:0009401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009401",
            "name": "ALDH4A1 hyperprolinemia",
            "description": ""
        },
        {
            "id": "MONDO:0009401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009401",
            "name": "delta-1-pyrroline-5-carboxylate dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009401",
            "name": "delta1-pyrroline-5-carboxylate dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009401",
            "name": "disorder of 1-pyrroline-5-carboxylate dehydrogenase activity",
            "description": ""
        },
        {
            "id": "MONDO:0009401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009401",
            "name": "hyperprolinemia caused by mutation in ALDH4A1",
            "description": ""
        },
        {
            "id": "MONDO:0009401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009401",
            "name": "hyperprolinemia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009401",
            "name": "1 alpha pyrroline-5-carboxylate dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009401",
            "name": "1-pyrroline-5-carboxylate dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009401",
            "name": "HPII",
            "description": ""
        },
        {
            "id": "MONDO:0009401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009401",
            "name": "HYRPRO2",
            "description": ""
        },
        {
            "id": "MONDO:0009401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009401",
            "name": "hyperprolinemia, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009401",
            "name": "hyperprolinemia, type II",
            "description": ""
        },
        {
            "id": "MONDO:0009401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009401",
            "name": "type 2 hyperprolinemia",
            "description": ""
        },
        {
            "id": "MIM:239510",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/239510",
            "name": "Hyperprolinemia 2",
            "description": "Hyperprolinemia 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080543"
    ],
    "unlinked_id_list": []
}