{
    "disease_id": "DOID:0110852",
    "recommended_name": {
        "id": "DOID:0110852",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110852",
        "name": "rhizomelic chondrodysplasia punctata type 2",
        "description": "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2."
    },
    "synonyms": [
        {
            "id": "DOID:0110852",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110852",
            "name": "Dihydroxyacetonephosphate Acyltransferase Deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110852",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110852",
            "name": "Dhapat Deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110852",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110852",
            "name": "Glyceronephosphate O-Acyltransferase Deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110852",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110852",
            "name": "Gnpat Deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110852",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110852",
            "name": "Rcdp2",
            "description": ""
        },
        {
            "id": "DOID:0110852",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110852",
            "name": "Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110852",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110852",
            "name": "Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009112",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009112",
            "name": "rhizomelic chondrodysplasia punctata type 2",
            "description": "Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene."
        },
        {
            "id": "MONDO:0009112",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009112",
            "name": "Dihydroxyacetonephosphate acyltransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009112",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009112",
            "name": "Glyceronephosphate O-acyltransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009112",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009112",
            "name": "RCDP2",
            "description": ""
        },
        {
            "id": "MONDO:0009112",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009112",
            "name": "chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate",
            "description": ""
        },
        {
            "id": "MONDO:0009112",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009112",
            "name": "type 2 rhizomelic chondrodysplasia punctata",
            "description": ""
        },
        {
            "id": "MONDO:0009112",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009112",
            "name": "chondrodysplasia punctata, rhizomelic, due to Dihydroxyacetonephosphate acyltransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009112",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009112",
            "name": "rhizomelic chondrodysplasia punctata, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0009112",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009112",
            "name": "rhizomelic chondrodysplasia punctata, type 2; RCDP2",
            "description": ""
        },
        {
            "id": "MONDO:0009112",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009112",
            "name": "Gnpat deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009112",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009112",
            "name": "peroxisomal Dihydroxyacetonephosphate acyltransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009112",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009112",
            "name": "rhizomelic chondrodysplasia punctata caused by mutation in GNPAT",
            "description": ""
        },
        {
            "id": "MONDO:0009112",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009112",
            "name": "Rcdp2",
            "description": ""
        },
        {
            "id": "MONDO:0009112",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009112",
            "name": "Dhapat deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009112",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009112",
            "name": "GNPAT rhizomelic chondrodysplasia punctata",
            "description": ""
        },
        {
            "id": "MIM:222765",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/222765",
            "name": "Rhizomelic chondrodysplasia punctata 2",
            "description": "Rhizomelic chondrodysplasia punctata 2"
        }
    ]
}