{
    "disease_id": "DOID:0110914",
    "recommended_name": {
        "id": "DOID:0110914",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110914",
        "name": "infantile hypophosphatasia",
        "description": "A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "DOID:0110914",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110914",
            "name": "phosphoethanolaminuria",
            "description": ""
        },
        {
            "id": "DOID:0110914",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110914",
            "name": "HOPS",
            "description": ""
        },
        {
            "id": "DOID:0110914",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110914",
            "name": "HPPI",
            "description": ""
        },
        {
            "id": "MONDO:1010169",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:1010169",
            "name": "infantile hypophosphatasia",
            "description": "Infantile hypophosphatasia (I-HPP) is a very rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization."
        },
        {
            "id": "MONDO:1010169",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:1010169",
            "name": "infantile hypophosphatasia",
            "description": ""
        },
        {
            "id": "MIM:241500",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/241500",
            "name": "Hypophosphatasia, infantile",
            "description": "Hypophosphatasia, infantile"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110914"
    ],
    "unlinked_id_list": []
}