{
    "disease_id": "DOID:0110852", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009112", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009112", 
            "name": "Dihydroxyacetonephosphate acyltransferase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009112", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009112", 
            "name": "Glyceronephosphate O-acyltransferase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009112", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009112", 
            "name": "RCDP2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009112", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009112", 
            "name": "chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009112", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009112", 
            "name": "type 2 rhizomelic chondrodysplasia punctata"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009112", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009112", 
            "name": "chondrodysplasia punctata, rhizomelic, due to Dihydroxyacetonephosphate acyltransferase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009112", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009112", 
            "name": "rhizomelic chondrodysplasia punctata, type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009112", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009112", 
            "name": "rhizomelic chondrodysplasia punctata, type 2; RCDP2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009112", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009112", 
            "name": "Gnpat deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009112", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009112", 
            "name": "peroxisomal Dihydroxyacetonephosphate acyltransferase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009112", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009112", 
            "name": "rhizomelic chondrodysplasia punctata caused by mutation in GNPAT"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009112", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009112", 
            "name": "Dhapat deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009112", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009112", 
            "name": "GNPAT rhizomelic chondrodysplasia punctata"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110852", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110852", 
            "name": "Dihydroxyacetonephosphate Acyltransferase Deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110852", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110852", 
            "name": "Dhapat Deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110852", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110852", 
            "name": "Glyceronephosphate O-Acyltransferase Deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110852", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110852", 
            "name": "Gnpat Deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110852", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110852", 
            "name": "Rcdp2"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110852", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110852", 
            "name": "Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0110852", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0110852", 
            "name": "Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency"
        }, 
        {
            "url": "https://www.omim.org/entry/222765", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:222765", 
            "name": "Rhizomelic chondrodysplasia punctata 2"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0110852", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0110852", 
        "name": "rhizomelic chondrodysplasia punctata type 2"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/222765", 
            "id": "222765", 
            "database": "MIM"
        }
    ]
}
