{
    "disease_id": "DOID:0070316",
    "recommended_name": {
        "id": "DOID:0070316",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070316",
        "name": "Miura type epiphyseal chondrodysplasia",
        "description": "A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13."
    },
    "synonyms": [
        {
            "id": "DOID:0070316",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070316",
            "name": "ECDM",
            "description": ""
        },
        {
            "id": "DOID:0070316",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070316",
            "name": "tall stature-scoliosis-macrodactyly of the halluces syndrome",
            "description": ""
        },
        {
            "id": "DOID:0070316",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070316",
            "name": "tall stature-scoliosis-macrodactyly of the great toes syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014401",
            "name": "tall stature-scoliosis-macrodactyly of the great toes syndrome",
            "description": "Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis."
        },
        {
            "id": "MONDO:0014401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014401",
            "name": "tall stature-scoliosis-macrodactyly of the halluces syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014401",
            "name": "ECDM",
            "description": ""
        },
        {
            "id": "MONDO:0014401",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014401",
            "name": "epiphyseal chondrodysplasia, MIURA type",
            "description": ""
        },
        {
            "id": "MIM:615923",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615923",
            "name": "Epiphyseal chondrodysplasia, Miura type",
            "description": "Epiphyseal chondrodysplasia, Miura type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070316"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070316",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070316",
            "categories": []
        },
        {
            "id": "MONDO:0014401",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014401",
            "categories": []
        },
        {
            "id": "MIM:615923",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615923",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3B2U7-1",
            "uniprot_ac": "A0A8M3B2U7",
            "uniprot_id": "A0A8M3B2U7_DANRE",
            "refseq_ac": "XP_009300100",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanylate cyclase",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.2",
                    "type": "synonym"
                },
                {
                    "name": "atrial natriuretic peptide receptor 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "npr2",
                    "type": "recommended"
                },
                {
                    "name": "npr2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3B2U7-1",
            "evidence": [
                {
                    "id": "0070316",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070316"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6VVW5-1",
            "uniprot_ac": "Q6VVW5",
            "uniprot_id": "ANPRB_MOUSE",
            "refseq_ac": "NP_776149",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Atrial natriuretic peptide receptor 2",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.2",
                    "type": "synonym"
                },
                {
                    "name": "ANP-B",
                    "type": "synonym"
                },
                {
                    "name": "ANPR-B",
                    "type": "synonym"
                },
                {
                    "name": "Atrial natriuretic peptide receptor type B",
                    "type": "synonym"
                },
                {
                    "name": "GC-B",
                    "type": "synonym"
                },
                {
                    "name": "Guanylate cyclase B",
                    "type": "synonym"
                },
                {
                    "name": "NPR-B",
                    "type": "synonym"
                },
                {
                    "name": "Nppb receptor",
                    "type": "synonym"
                },
                {
                    "name": "atrial natriuretic peptide receptor 2 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "atrial natriuretic peptide receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "atrial natriuretic peptide receptor type B",
                    "type": "synonym"
                },
                {
                    "name": "guanylate cyclase B",
                    "type": "synonym"
                },
                {
                    "name": "guanylyl cyclase-B",
                    "type": "synonym"
                },
                {
                    "name": "natriuretic peptide receptor B type",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Npr2",
                    "type": "recommended"
                },
                {
                    "name": "GC-B2",
                    "type": "synonym"
                },
                {
                    "name": "GC-B3",
                    "type": "synonym"
                },
                {
                    "name": "GC-B",
                    "type": "synonym"
                },
                {
                    "name": "Npr2",
                    "type": "synonym"
                },
                {
                    "name": "cn",
                    "type": "synonym"
                },
                {
                    "name": "mNPR-B",
                    "type": "synonym"
                },
                {
                    "name": "pwe",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6VVW5-1",
            "evidence": [
                {
                    "id": "0070316",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070316"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20594-1",
            "uniprot_ac": "P20594",
            "uniprot_id": "ANPRB_HUMAN",
            "refseq_ac": "NP_003986",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Atrial natriuretic peptide receptor 2",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.2",
                    "type": "synonym"
                },
                {
                    "name": "ANP-B",
                    "type": "synonym"
                },
                {
                    "name": "ANPR-B",
                    "type": "synonym"
                },
                {
                    "name": "Atrial natriuretic peptide receptor type B",
                    "type": "synonym"
                },
                {
                    "name": "GC-B",
                    "type": "synonym"
                },
                {
                    "name": "Guanylate cyclase B",
                    "type": "synonym"
                },
                {
                    "name": "NPR-B",
                    "type": "synonym"
                },
                {
                    "name": "atrial natriuretic peptide B-type receptor",
                    "type": "synonym"
                },
                {
                    "name": "atrial natriuretic peptide receptor 2 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "atrial natriuretic peptide receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "atrial natriuretic peptide receptor type B",
                    "type": "synonym"
                },
                {
                    "name": "guanylate cyclase 2B",
                    "type": "synonym"
                },
                {
                    "name": "guanylyl cyclase B",
                    "type": "synonym"
                },
                {
                    "name": "natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NPR2",
                    "type": "recommended"
                },
                {
                    "name": "AMDM",
                    "type": "synonym"
                },
                {
                    "name": "ANPRB",
                    "type": "synonym"
                },
                {
                    "name": "ANPb",
                    "type": "synonym"
                },
                {
                    "name": "ECDM",
                    "type": "synonym"
                },
                {
                    "name": "GC-B",
                    "type": "synonym"
                },
                {
                    "name": "GCB",
                    "type": "synonym"
                },
                {
                    "name": "GUC2B",
                    "type": "synonym"
                },
                {
                    "name": "GUCY2B",
                    "type": "synonym"
                },
                {
                    "name": "NPR2",
                    "type": "synonym"
                },
                {
                    "name": "NPRBi",
                    "type": "synonym"
                },
                {
                    "name": "NPRB",
                    "type": "synonym"
                },
                {
                    "name": "SNSK",
                    "type": "synonym"
                }
            ],
            "record_id": "P20594-1",
            "evidence": [
                {
                    "id": "615923",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615923"
                },
                {
                    "id": "0070316",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070316"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16067-1",
            "uniprot_ac": "P16067",
            "uniprot_id": "ANPRB_RAT",
            "refseq_ac": "NP_446290",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Atrial natriuretic peptide receptor 2",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.2",
                    "type": "synonym"
                },
                {
                    "name": "ANP-B",
                    "type": "synonym"
                },
                {
                    "name": "ANPR-B",
                    "type": "synonym"
                },
                {
                    "name": "ANPRB",
                    "type": "synonym"
                },
                {
                    "name": "Atrial natriuretic peptide receptor type B",
                    "type": "synonym"
                },
                {
                    "name": "GC-B",
                    "type": "synonym"
                },
                {
                    "name": "Guanylate cyclase B",
                    "type": "synonym"
                },
                {
                    "name": "NPR-B",
                    "type": "synonym"
                },
                {
                    "name": "atrial natriuretic peptide B-type receptor",
                    "type": "synonym"
                },
                {
                    "name": "atrial natriuretic peptide receptor 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "atrial natriuretic peptide receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "atrial natriuretic peptide receptor B",
                    "type": "synonym"
                },
                {
                    "name": "atrial natriuretic peptide receptor type B",
                    "type": "synonym"
                },
                {
                    "name": "guanylate cyclase B",
                    "type": "synonym"
                },
                {
                    "name": "natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)",
                    "type": "synonym"
                },
                {
                    "name": "natriuretic peptide receptor-B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Npr2",
                    "type": "recommended"
                },
                {
                    "name": "GC-B",
                    "type": "synonym"
                },
                {
                    "name": "NPR-B",
                    "type": "synonym"
                },
                {
                    "name": "Npr2",
                    "type": "synonym"
                }
            ],
            "record_id": "P16067-1",
            "evidence": [
                {
                    "id": "0070316",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070316"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8MLX0-1",
            "uniprot_ac": "Q8MLX0",
            "uniprot_id": "Q8MLX0_DROME",
            "refseq_ac": "NP_726013",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanylate cyclase",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CG3216-PC",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG3216",
                    "type": "recommended"
                },
                {
                    "name": "CG3216",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3216",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3216",
                    "type": "synonym"
                },
                {
                    "name": "GYC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8MLX0-1",
            "evidence": [
                {
                    "id": "0070316",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070316"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VF17-1",
            "uniprot_ac": "Q9VF17",
            "uniprot_id": "Q9VF17_DROME",
            "refseq_ac": "NP_001287342",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Guanylate cyclase",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.2",
                    "type": "synonym"
                },
                {
                    "name": "CG31183-PB",
                    "type": "synonym"
                },
                {
                    "name": "guanylyl cyclase at 89A",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG11846",
                    "type": "recommended"
                },
                {
                    "name": "CG11846",
                    "type": "synonym"
                },
                {
                    "name": "CG31183",
                    "type": "synonym"
                },
                {
                    "name": "CG4224",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31183",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31183",
                    "type": "synonym"
                },
                {
                    "name": "DrGC-2",
                    "type": "synonym"
                },
                {
                    "name": "FBgn0038379",
                    "type": "synonym"
                },
                {
                    "name": "GYC",
                    "type": "synonym"
                },
                {
                    "name": "Gyc89A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VF17-1",
            "evidence": [
                {
                    "id": "0070316",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070316"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070316"
}