{
    "disease_id": "DOID:0110853",
    "recommended_name": {
        "id": "DOID:0110853",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110853",
        "name": "rhizomelic chondrodysplasia punctata type 3",
        "description": "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2."
    },
    "synonyms": [
        {
            "id": "DOID:0110853",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110853",
            "name": "Agps Deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110853",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110853",
            "name": "Alkyldihydroxyacetonephosphate Synthase Deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110853",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110853",
            "name": "Alkylglycerone-Phosphate Synthase Deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110853",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110853",
            "name": "Rcdp3",
            "description": ""
        },
        {
            "id": "MONDO:0010823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010823",
            "name": "rhizomelic chondrodysplasia punctata type 3",
            "description": "Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene."
        },
        {
            "id": "MONDO:0010823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010823",
            "name": "RCDP3",
            "description": ""
        },
        {
            "id": "MONDO:0010823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010823",
            "name": "rhizomelic chondrodysplasia punctata, type 3; RCDP3",
            "description": ""
        },
        {
            "id": "MONDO:0010823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010823",
            "name": "Alkyglycerone-phosphate synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010823",
            "name": "Rcdp3",
            "description": ""
        },
        {
            "id": "MONDO:0010823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010823",
            "name": "AGPS rhizomelic chondrodysplasia punctata",
            "description": ""
        },
        {
            "id": "MONDO:0010823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010823",
            "name": "alkylglycerone-phosphate synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010823",
            "name": "Agps deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010823",
            "name": "alkyldihydroxyacetonephosphate synthase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010823",
            "name": "rhizomelic chondrodysplasia punctata, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0010823",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010823",
            "name": "rhizomelic chondrodysplasia punctata caused by mutation in AGPS",
            "description": ""
        },
        {
            "id": "MIM:600121",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600121",
            "name": "Rhizomelic chondrodysplasia punctata 3",
            "description": "Rhizomelic chondrodysplasia punctata 3"
        }
    ]
}