{
    "disease_id": "DOID:0110852",
    "recommended_name": {
        "id": "DOID:0110852",
        "resource": "Disease Ontology",
        "url": "https://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": "https://disease-ontology.org/term/DOID:0110852",
            "name": "Dihydroxyacetonephosphate Acyltransferase Deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110852",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110852",
            "name": "Glyceronephosphate O-Acyltransferase Deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110852",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110852",
            "name": "Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110852",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110852",
            "name": "Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110852",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110852",
            "name": "DHAPAT deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110852",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110852",
            "name": "GNPAT deficiency",
            "description": ""
        },
        {
            "id": "DOID:0110852",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110852",
            "name": "RCDP2",
            "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": "Dhapat deficiency",
            "description": ""
        },
        {
            "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": "GNPAT rhizomelic chondrodysplasia punctata",
            "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": "Gnpat 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": "Rcdp2",
            "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": "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": "rhizomelic chondrodysplasia punctata type 2",
            "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": "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",
            "description": ""
        },
        {
            "id": "MIM:222765",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/222765",
            "name": "Rhizomelic chondrodysplasia punctata 2",
            "description": "Rhizomelic chondrodysplasia punctata 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110852"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110852",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110852",
            "categories": []
        },
        {
            "id": "MONDO:0009112",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009112",
            "categories": []
        },
        {
            "id": "MIM:222765",
            "database": "MIM",
            "url": "https://www.omim.org/entry/222765",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1RMJ8-1",
            "uniprot_ac": "A0A8M1RMJ8",
            "uniprot_id": "A0A8M1RMJ8_DANRE",
            "refseq_ac": "XP_002665823",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dihydroxyacetone phosphate acyltransferase isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "dihydroxyacetone phosphate acyltransferase isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gnpat2",
                    "type": "recommended"
                },
                {
                    "name": "gnpat2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1RMJ8-1",
            "evidence": [
                {
                    "id": "0110852",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110852"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1QAU7-1",
            "uniprot_ac": "F1QAU7",
            "uniprot_id": "F1QAU7_DANRE",
            "refseq_ac": "XP_002665694",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dihydroxyacetone phosphate acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dihydroxyacetone phosphate acyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gnpat",
                    "type": "recommended"
                },
                {
                    "name": "gnpat",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QAU7-1",
            "evidence": [
                {
                    "id": "0110852",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110852"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P98192-1",
            "uniprot_ac": "P98192",
            "uniprot_id": "GNPAT_MOUSE",
            "refseq_ac": "NP_034452",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dihydroxyacetone phosphate acyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.42",
                    "type": "synonym"
                },
                {
                    "name": "Acyl-CoA:dihydroxyacetonephosphateacyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "DAP-AT",
                    "type": "synonym"
                },
                {
                    "name": "DHAP-AT",
                    "type": "synonym"
                },
                {
                    "name": "Glycerone-phosphate O-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "acyl-CoA:dihydroxyacetonephosphateacyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dihydroxyacetone phosphate acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "glycerone-phosphate O-acyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gnpat",
                    "type": "recommended"
                },
                {
                    "name": "D1Ertd819e",
                    "type": "synonym"
                },
                {
                    "name": "DHAPAT",
                    "type": "synonym"
                },
                {
                    "name": "Dhapat",
                    "type": "synonym"
                },
                {
                    "name": "Gnpat",
                    "type": "synonym"
                }
            ],
            "record_id": "P98192-1",
            "evidence": [
                {
                    "id": "0110852",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110852"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15228-1",
            "uniprot_ac": "O15228",
            "uniprot_id": "GNPAT_HUMAN",
            "refseq_ac": "NP_001303279",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dihydroxyacetone phosphate acyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.42",
                    "type": "synonym"
                },
                {
                    "name": "Acyl-CoA:dihydroxyacetonephosphateacyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "DAP-AT",
                    "type": "synonym"
                },
                {
                    "name": "DAPAT",
                    "type": "synonym"
                },
                {
                    "name": "DHAP-AT",
                    "type": "synonym"
                },
                {
                    "name": "Glycerone-phosphate O-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "acyl-CoA:dihydroxyacetonephosphateacyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dihydroxyacetone phosphate acyltransferase isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "dihydroxyacetone phosphate acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "glycerone-phosphate O-acyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GNPAT",
                    "type": "recommended"
                },
                {
                    "name": "DAP-AT",
                    "type": "synonym"
                },
                {
                    "name": "DAPAT",
                    "type": "synonym"
                },
                {
                    "name": "DHAPAT",
                    "type": "synonym"
                },
                {
                    "name": "GNPAT",
                    "type": "synonym"
                },
                {
                    "name": "RCDP2",
                    "type": "synonym"
                }
            ],
            "record_id": "O15228-1",
            "evidence": [
                {
                    "id": "222765",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/222765"
                },
                {
                    "id": "0110852",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110852"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ES71-1",
            "uniprot_ac": "Q9ES71",
            "uniprot_id": "GNPAT_RAT",
            "refseq_ac": "NP_445862",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dihydroxyacetone phosphate acyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.42",
                    "type": "synonym"
                },
                {
                    "name": "Acyl-CoA:dihydroxyacetonephosphateacyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "DAP-AT",
                    "type": "synonym"
                },
                {
                    "name": "DHAP-AT",
                    "type": "synonym"
                },
                {
                    "name": "Glycerone-phosphate O-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "acyl-CoA:dihydroxyacetonephosphate acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "acyl-CoA:dihydroxyacetonephosphateacyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "dihydroxyacetone phosphate acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "glycerone-phosphate O-acyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gnpat",
                    "type": "recommended"
                },
                {
                    "name": "Gnpat",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ES71-1",
            "evidence": [
                {
                    "id": "0110852",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110852"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4KHK0-1",
            "uniprot_ac": "A0A0B4KHK0",
            "uniprot_id": "A0A0B4KHK0_DROME",
            "refseq_ac": "NP_001262957",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dihydroxyacetone phosphate acyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.42",
                    "type": "synonym"
                },
                {
                    "name": "CG4625-PC",
                    "type": "synonym"
                },
                {
                    "name": "Glycerone-phosphate O-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Gnpat-PC",
                    "type": "synonym"
                },
                {
                    "name": "dihydroxyacetone phosphate acyltansferase",
                    "type": "synonym"
                },
                {
                    "name": "dihydroxyacetone phosphate acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "glycerol 3-phosphate acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "glycerol-3-phosphate acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "glycerol-3-phosphate-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "glyceronephosphate O-acyltransferase, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gnpat",
                    "type": "recommended"
                },
                {
                    "name": "8-1",
                    "type": "synonym"
                },
                {
                    "name": "CG4625",
                    "type": "synonym"
                },
                {
                    "name": "DHAP-AT",
                    "type": "synonym"
                },
                {
                    "name": "DHAPAT",
                    "type": "synonym"
                },
                {
                    "name": "Dhap-at",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4625",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4625",
                    "type": "synonym"
                },
                {
                    "name": "GNPAT",
                    "type": "synonym"
                },
                {
                    "name": "GPAT",
                    "type": "synonym"
                },
                {
                    "name": "Gnpat",
                    "type": "synonym"
                },
                {
                    "name": "Gpat",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4KHK0-1",
            "evidence": [
                {
                    "id": "0110852",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110852"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110852"
}