{
    "disease_id": "DOID:0112224",
    "recommended_name": {
        "id": "DOID:0112224",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112224",
        "name": "chondrodysplasia with joint dislocations gPAPP type",
        "description": "An osteochondrodysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, joint hyperlaxity and/or dislocations, micrognathia, cleft palate, brachydactyly, short metacarpals, supernumerary carpal ossification centers and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the IMPAD1 gene on chromosome 8q12."
    },
    "synonyms": [
        {
            "id": "DOID:0112224",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112224",
            "name": "gPAPP deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013561",
            "name": "chondrodysplasia with joint dislocations, gPAPP type",
            "description": ""
        },
        {
            "id": "MONDO:0013561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013561",
            "name": "chondrodysplasia with joint dislocations, gPAPP type",
            "description": ""
        },
        {
            "id": "MONDO:0013561",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013561",
            "name": "gPAPP deficiency",
            "description": ""
        },
        {
            "id": "MIM:614078",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614078",
            "name": "Chondrodysplasia with joint dislocations, GPAPP type",
            "description": "Chondrodysplasia with joint dislocations, GPAPP type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112224"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112224",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112224",
            "categories": []
        },
        {
            "id": "MONDO:0013561",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013561",
            "categories": []
        },
        {
            "id": "MIM:614078",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614078",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q2YDR3-1",
            "uniprot_ac": "Q2YDR3",
            "uniprot_id": "IMPA3_DANRE",
            "refseq_ac": "NP_001032657",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inositol monophosphatase 3",
                    "type": "recommended"
                },
                {
                    "name": "3'(2'), 5'-bisphosphate nucleotidase 2",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.25",
                    "type": "synonym"
                },
                {
                    "name": "IMP 3",
                    "type": "synonym"
                },
                {
                    "name": "IMPase 3",
                    "type": "synonym"
                },
                {
                    "name": "Inositol monophosphatase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Inositol-1(or 4)-monophosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "Myo-inositol monophosphatase A3",
                    "type": "synonym"
                },
                {
                    "name": "inositol monophosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "inositol monophosphatase domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "inositol monophosphatase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "inositol-1(or 4)-monophosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "myo-inositol monophosphatase A3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bpnt2",
                    "type": "recommended"
                },
                {
                    "name": "bpnt2",
                    "type": "synonym"
                },
                {
                    "name": "impa3",
                    "type": "synonym"
                },
                {
                    "name": "impad1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:123256",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2YDR3-1",
            "evidence": [
                {
                    "id": "0112224",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112224"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80V26-1",
            "uniprot_ac": "Q80V26",
            "uniprot_id": "IMPA3_MOUSE",
            "refseq_ac": "NP_808398",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3'(2'), 5'-bisphosphate nucleotidase 2",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.7",
                    "type": "synonym"
                },
                {
                    "name": "Golgi 3-prime phosphoadenosine 5-prime phosphate 3-prime phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Golgi-resident PAP phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Inositol monophosphatase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Myo-inositol monophosphatase A3",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoadenosine phosphate 3'-nucleotidase",
                    "type": "synonym"
                },
                {
                    "name": "gPAPP",
                    "type": "synonym"
                },
                {
                    "name": "golgi-resident PAP phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "inositol monophosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "inositol monophosphatase domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "inositol monophosphatase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "inositol-1(or 4)-monophosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "myo-inositol monophosphatase A3",
                    "type": "synonym"
                },
                {
                    "name": "phosphoadenosine phosphate 3'-nucleotidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bpnt2",
                    "type": "recommended"
                },
                {
                    "name": "1110001C20Rik",
                    "type": "synonym"
                },
                {
                    "name": "B230207P20",
                    "type": "synonym"
                },
                {
                    "name": "Bpnt2",
                    "type": "synonym"
                },
                {
                    "name": "IMP 3",
                    "type": "synonym"
                },
                {
                    "name": "IMPase 3",
                    "type": "synonym"
                },
                {
                    "name": "Impa3",
                    "type": "synonym"
                },
                {
                    "name": "Impad1",
                    "type": "synonym"
                },
                {
                    "name": "Jaws",
                    "type": "synonym"
                },
                {
                    "name": "gPAPP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80V26-1",
            "evidence": [
                {
                    "id": "0112224",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112224"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NX62-1",
            "uniprot_ac": "Q9NX62",
            "uniprot_id": "IMPA3_HUMAN",
            "refseq_ac": "NP_060283",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3'(2'), 5'-bisphosphate nucleotidase 2",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.7",
                    "type": "synonym"
                },
                {
                    "name": "Golgi 3-prime phosphoadenosine 5-prime phosphate 3-prime phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Golgi-resident PAP phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "IMPase 3",
                    "type": "synonym"
                },
                {
                    "name": "Inositol monophosphatase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Myo-inositol monophosphatase A3",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoadenosine phosphate 3'-nucleotidase",
                    "type": "synonym"
                },
                {
                    "name": "gPAPP",
                    "type": "synonym"
                },
                {
                    "name": "golgi-resident PAP phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "golgi-resident nucleotide phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "inositol monophosphatase domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "inositol monophosphatase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "inositol-1(or 4)-monophosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "myo-inositol monophosphatase A3",
                    "type": "synonym"
                },
                {
                    "name": "phosphoadenosine phosphate 3'-nucleotidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BPNT2",
                    "type": "recommended"
                },
                {
                    "name": "BPNT2",
                    "type": "synonym"
                },
                {
                    "name": "GPAPP",
                    "type": "synonym"
                },
                {
                    "name": "IMP 3",
                    "type": "synonym"
                },
                {
                    "name": "IMP-3",
                    "type": "synonym"
                },
                {
                    "name": "IMPA3",
                    "type": "synonym"
                },
                {
                    "name": "IMPAD1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NX62-1",
            "evidence": [
                {
                    "id": "614078",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614078"
                },
                {
                    "id": "0112224",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112224"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4AD37-1",
            "uniprot_ac": "D4AD37",
            "uniprot_id": "IMPA3_RAT",
            "refseq_ac": "NP_001008772",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase",
                    "type": "recommended"
                },
                {
                    "name": "3'(2'), 5'-bisphosphate nucleotidase 2",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.7",
                    "type": "synonym"
                },
                {
                    "name": "Ac2-190",
                    "type": "synonym"
                },
                {
                    "name": "Golgi 3-prime phosphoadenosine 5-prime phosphate 3-prime phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Golgi-resident PAP phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "IMPase 3",
                    "type": "synonym"
                },
                {
                    "name": "Inositol monophosphatase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Myo-inositol monophosphatase A3",
                    "type": "synonym"
                },
                {
                    "name": "Phosphoadenosine phosphate 3'-nucleotidase",
                    "type": "synonym"
                },
                {
                    "name": "gPAPP",
                    "type": "synonym"
                },
                {
                    "name": "golgi-resident PAP phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "inositol monophosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "inositol monophosphatase domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "inositol monophosphatase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "inositol-1(or 4)-monophosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "myo-inositol monophosphatase A3",
                    "type": "synonym"
                },
                {
                    "name": "phosphoadenosine phosphate 3'-nucleotidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bpnt2",
                    "type": "recommended"
                },
                {
                    "name": "Bpnt2",
                    "type": "synonym"
                },
                {
                    "name": "IMP 3",
                    "type": "synonym"
                },
                {
                    "name": "Impa3",
                    "type": "synonym"
                },
                {
                    "name": "Impad1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1306455",
                    "type": "synonym"
                },
                {
                    "name": "gPAPP",
                    "type": "synonym"
                }
            ],
            "record_id": "D4AD37-1",
            "evidence": [
                {
                    "id": "0112224",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112224"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VYF2-1",
            "uniprot_ac": "Q9VYF2",
            "uniprot_id": "IMPA3_DROME",
            "refseq_ac": "NP_001259511",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative inositol monophosphatase 3",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.25",
                    "type": "synonym"
                },
                {
                    "name": "CG15743-PB",
                    "type": "synonym"
                },
                {
                    "name": "IMP 3",
                    "type": "synonym"
                },
                {
                    "name": "IMPase 3",
                    "type": "synonym"
                },
                {
                    "name": "Inositol-1(or 4)-monophosphatase 3",
                    "type": "synonym"
                },
                {
                    "name": "Myo-inositol monophosphatase A3",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG15743",
                    "type": "recommended"
                },
                {
                    "name": "CG15743",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15743",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15743",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VYF2-1",
            "evidence": [
                {
                    "id": "0112224",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112224"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112224"
}