{
    "disease_id": "DOID:0081238",
    "recommended_name": {
        "id": "DOID:0081238",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081238",
        "name": "acromesomelic dysplasia 4",
        "description": "An acromesomelic dysplasia that is characterized by disproportionate short stature due to mesomelic shortening of the limbs and that has_material_basis_in homozygous mutation in the PRKG2 gene on chromosome 4q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0030553",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030553",
            "name": "acromesomelic dysplasia 4",
            "description": ""
        },
        {
            "id": "MONDO:0030553",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030553",
            "name": "AMD4",
            "description": ""
        },
        {
            "id": "MIM:619636",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619636",
            "name": "Acromesomelic dysplasia 4",
            "description": "Acromesomelic dysplasia 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081238"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081238",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081238",
            "categories": []
        },
        {
            "id": "MONDO:0030553",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030553",
            "categories": []
        },
        {
            "id": "MIM:619636",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619636",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9Q2S7-1",
            "uniprot_ac": "A0A8M9Q2S7",
            "uniprot_id": "A0A8M9Q2S7_DANRE",
            "refseq_ac": "XP_073805736",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "cGMP-dependent protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.12",
                    "type": "synonym"
                },
                {
                    "name": "cGMP-dependent protein kinase 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "prkg2",
                    "type": "recommended"
                },
                {
                    "name": "prkg2",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-18e17.2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9Q2S7-1",
            "evidence": [
                {
                    "id": "0081238",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081238"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61410-1",
            "uniprot_ac": "Q61410",
            "uniprot_id": "KGP2_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "cGMP-dependent protein kinase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.12",
                    "type": "synonym"
                },
                {
                    "name": "cGK 2",
                    "type": "synonym"
                },
                {
                    "name": "cGK2",
                    "type": "synonym"
                },
                {
                    "name": "cGKII",
                    "type": "synonym"
                },
                {
                    "name": "cGMP-dependent protein kinase II",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prkg2",
                    "type": "recommended"
                },
                {
                    "name": "Prkgr2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61410-1",
            "evidence": [
                {
                    "id": "0081238",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081238"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13237-1",
            "uniprot_ac": "Q13237",
            "uniprot_id": "KGP2_HUMAN",
            "refseq_ac": "NP_001269409",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "cGMP-dependent protein kinase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.12",
                    "type": "synonym"
                },
                {
                    "name": "cGK 2",
                    "type": "synonym"
                },
                {
                    "name": "cGK2",
                    "type": "synonym"
                },
                {
                    "name": "cGKII",
                    "type": "synonym"
                },
                {
                    "name": "cGMP-dependent protein kinase 2 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "cGMP-dependent protein kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "cGMP-dependent protein kinase II",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase, cGMP-dependent, type II",
                    "type": "synonym"
                },
                {
                    "name": "testicular tissue protein Li 99",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRKG2",
                    "type": "recommended"
                },
                {
                    "name": "AMD4",
                    "type": "synonym"
                },
                {
                    "name": "PKG2",
                    "type": "synonym"
                },
                {
                    "name": "PRKG2",
                    "type": "synonym"
                },
                {
                    "name": "PRKGR2",
                    "type": "synonym"
                },
                {
                    "name": "SMDP",
                    "type": "synonym"
                },
                {
                    "name": "cGK2",
                    "type": "synonym"
                },
                {
                    "name": "cGKII",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13237-1",
            "evidence": [
                {
                    "id": "619636",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619636"
                },
                {
                    "id": "0081238",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081238"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64595-1",
            "uniprot_ac": "Q64595",
            "uniprot_id": "KGP2_RAT",
            "refseq_ac": "NP_037144",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "cGMP-dependent protein kinase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.12",
                    "type": "synonym"
                },
                {
                    "name": "CGK 2",
                    "type": "synonym"
                },
                {
                    "name": "cGK 2",
                    "type": "synonym"
                },
                {
                    "name": "cGK2",
                    "type": "synonym"
                },
                {
                    "name": "cGKII",
                    "type": "synonym"
                },
                {
                    "name": "cGMP dependent protein kinase type II",
                    "type": "synonym"
                },
                {
                    "name": "cGMP-dependent protein kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "cGMP-dependent protein kinase II",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase, cGMP- dependent, type 2",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase, cGMP-dependent, type II",
                    "type": "synonym"
                },
                {
                    "name": "type II cGMP-dependent protein kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prkg2",
                    "type": "recommended"
                },
                {
                    "name": "GDPKII",
                    "type": "synonym"
                },
                {
                    "name": "Prkg2",
                    "type": "synonym"
                },
                {
                    "name": "cGKII",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64595-1",
            "evidence": [
                {
                    "id": "0081238",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081238"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03042-1",
            "uniprot_ac": "Q03042",
            "uniprot_id": "KGP1_DROME",
            "refseq_ac": "NP_477213",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "cGMP-dependent protein kinase, isozyme 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.12",
                    "type": "synonym"
                },
                {
                    "name": "CG3324-PA",
                    "type": "synonym"
                },
                {
                    "name": "Pkg21D-PA",
                    "type": "synonym"
                },
                {
                    "name": "cGK",
                    "type": "synonym"
                },
                {
                    "name": "cGMP-dependent protein kinase 21D",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase, cGMP-dependent at 21D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pkg21D",
                    "type": "recommended"
                },
                {
                    "name": "CG3324",
                    "type": "synonym"
                },
                {
                    "name": "DG1",
                    "type": "synonym"
                },
                {
                    "name": "Dg1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3324",
                    "type": "synonym"
                },
                {
                    "name": "PKG 21D",
                    "type": "synonym"
                },
                {
                    "name": "PKG-21D",
                    "type": "synonym"
                },
                {
                    "name": "PKG1",
                    "type": "synonym"
                },
                {
                    "name": "PKG21D",
                    "type": "synonym"
                },
                {
                    "name": "PKG",
                    "type": "synonym"
                },
                {
                    "name": "Pkg1",
                    "type": "synonym"
                },
                {
                    "name": "Pkg21D",
                    "type": "synonym"
                },
                {
                    "name": "cGMP",
                    "type": "synonym"
                },
                {
                    "name": "dg1",
                    "type": "synonym"
                },
                {
                    "name": "pkg21D",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03042-1",
            "evidence": [
                {
                    "id": "0081238",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081238"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07099-1",
            "uniprot_ac": "P07099",
            "uniprot_id": "HYEP_HUMAN",
            "refseq_ac": "NP_000111",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epoxide hydrolase 1",
                    "type": "recommended"
                },
                {
                    "name": "3.3.2.9",
                    "type": "synonym"
                },
                {
                    "name": "Epoxide hydratase",
                    "type": "synonym"
                },
                {
                    "name": "Microsomal epoxide hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "epoxide hydratase",
                    "type": "synonym"
                },
                {
                    "name": "epoxide hydrolase 1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "epoxide hydrolase 1 microsomal",
                    "type": "synonym"
                },
                {
                    "name": "epoxide hydrolase 1, microsomal (xenobiotic)",
                    "type": "synonym"
                },
                {
                    "name": "mEH",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EPHX1",
                    "type": "recommended"
                },
                {
                    "name": "EPHX1",
                    "type": "synonym"
                },
                {
                    "name": "EPHX",
                    "type": "synonym"
                },
                {
                    "name": "EPOX",
                    "type": "synonym"
                },
                {
                    "name": "HYL1",
                    "type": "synonym"
                },
                {
                    "name": "MEH",
                    "type": "synonym"
                }
            ],
            "record_id": "P07099-1",
            "evidence": [
                {
                    "id": "0081238",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081238"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081238"
}