{
    "disease_id": "DOID:0111247",
    "recommended_name": {
        "id": "DOID:0111247",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111247",
        "name": "hypertension and brachydactyly syndrome",
        "description": "A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and increased risk of stroke when untreated that has_material_basis_in heterozygous mutation in PDE3A on 12p12.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111247",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111247",
            "name": "Bilginturan brachydactyly",
            "description": ""
        },
        {
            "id": "DOID:0111247",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111247",
            "name": "Bilginturan syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111247",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111247",
            "name": "HTNB",
            "description": ""
        },
        {
            "id": "DOID:0111247",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111247",
            "name": "type E brachydactyly with short stature and hypertension",
            "description": ""
        },
        {
            "id": "DOID:0111247",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111247",
            "name": "brachydactyly with hypertension",
            "description": ""
        },
        {
            "id": "MONDO:0007211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007211",
            "name": "brachydactyly-arterial hypertension syndrome",
            "description": "Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50."
        },
        {
            "id": "MONDO:0007211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007211",
            "name": "Bilginturan brachydactyly",
            "description": ""
        },
        {
            "id": "MONDO:0007211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007211",
            "name": "Bilginturan syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007211",
            "name": "brachydactyly type E, with short stature and hypertension",
            "description": ""
        },
        {
            "id": "MONDO:0007211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007211",
            "name": "HTNB",
            "description": ""
        },
        {
            "id": "MONDO:0007211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007211",
            "name": "brachydactyly type E with short stature and hypertension",
            "description": ""
        },
        {
            "id": "MONDO:0007211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007211",
            "name": "hypertension and brachydactyly syndrome",
            "description": ""
        },
        {
            "id": "MIM:112410",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/112410",
            "name": "Hypertension and brachydactyly syndrome",
            "description": "Hypertension and brachydactyly syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111247"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111247",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111247",
            "categories": []
        },
        {
            "id": "MONDO:0007211",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007211",
            "categories": []
        },
        {
            "id": "MIM:112410",
            "database": "MIM",
            "url": "https://www.omim.org/entry/112410",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3B8Q1-1",
            "uniprot_ac": "A0A8M3B8Q1",
            "uniprot_id": "A0A8M3B8Q1_DANRE",
            "refseq_ac": "XP_009298269",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphodiesterase",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.-",
                    "type": "synonym"
                },
                {
                    "name": "cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pde3a",
                    "type": "recommended"
                },
                {
                    "name": "pde3a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3B8Q1-1",
            "evidence": [
                {
                    "id": "0111247",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111247"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z0X4-1",
            "uniprot_ac": "Q9Z0X4",
            "uniprot_id": "PDE3A_MOUSE",
            "refseq_ac": "NP_061249",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.17",
                    "type": "synonym"
                },
                {
                    "name": "CGI-PDE A",
                    "type": "synonym"
                },
                {
                    "name": "Cyclic GMP-inhibited phosphodiesterase A",
                    "type": "synonym"
                },
                {
                    "name": "cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A",
                    "type": "synonym"
                },
                {
                    "name": "cGMP-inhibited 3',5'-cyclic phosphodiesterase A",
                    "type": "synonym"
                },
                {
                    "name": "cGMP-inhibited phosphodiesterase",
                    "type": "synonym"
                },
                {
                    "name": "cyclic GMP-inhibited phosphodiesterase A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pde3a",
                    "type": "recommended"
                },
                {
                    "name": "A930022O17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Pde3a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z0X4-1",
            "evidence": [
                {
                    "id": "0111247",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111247"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14432-1",
            "uniprot_ac": "Q14432",
            "uniprot_id": "PDE3A_HUMAN",
            "refseq_ac": "NP_000912",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.17",
                    "type": "synonym"
                },
                {
                    "name": "CGI-PDE A",
                    "type": "synonym"
                },
                {
                    "name": "Cyclic GMP-inhibited phosphodiesterase A",
                    "type": "synonym"
                },
                {
                    "name": "cAMP phosphodiesterase, myocardial cGMP-inhibited",
                    "type": "synonym"
                },
                {
                    "name": "cGI-PDE",
                    "type": "synonym"
                },
                {
                    "name": "cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A",
                    "type": "synonym"
                },
                {
                    "name": "cGMP-inhibited 3',5'-cyclic phosphodiesterase A",
                    "type": "synonym"
                },
                {
                    "name": "cGMP-inhibited cAMP phosphodiesterase",
                    "type": "synonym"
                },
                {
                    "name": "cyclic GMP-inhibited phosphodiesterase A",
                    "type": "synonym"
                },
                {
                    "name": "phosphodiesterase 3A, cGMP-inhibited",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PDE3A",
                    "type": "recommended"
                },
                {
                    "name": "CGI-PDE A",
                    "type": "synonym"
                },
                {
                    "name": "CGI-PDE-A",
                    "type": "synonym"
                },
                {
                    "name": "CGI-PDE",
                    "type": "synonym"
                },
                {
                    "name": "HTNB",
                    "type": "synonym"
                },
                {
                    "name": "PDE3A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14432-1",
            "evidence": [
                {
                    "id": "112410",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/112410"
                },
                {
                    "id": "0111247",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111247"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62865-1",
            "uniprot_ac": "Q62865",
            "uniprot_id": "PDE3A_RAT",
            "refseq_ac": "NP_059033",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A",
                    "type": "recommended"
                },
                {
                    "name": "3.1.4.17",
                    "type": "synonym"
                },
                {
                    "name": "CGI-PDE A",
                    "type": "synonym"
                },
                {
                    "name": "Cyclic GMP-inhibited phosphodiesterase A",
                    "type": "synonym"
                },
                {
                    "name": "cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A",
                    "type": "synonym"
                },
                {
                    "name": "cGMP-inhibited 3',5'-cyclic phosphodiesterase A",
                    "type": "synonym"
                },
                {
                    "name": "cyclic GMP-inhibited phosphodiesterase A",
                    "type": "synonym"
                },
                {
                    "name": "cyclic nucleotide phosphodiesterase",
                    "type": "synonym"
                },
                {
                    "name": "phosphodiesterase 3A, cGMP inhibited",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pde3a",
                    "type": "recommended"
                },
                {
                    "name": "Pde3a",
                    "type": "synonym"
                },
                {
                    "name": "RNPDE3A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62865-1",
            "evidence": [
                {
                    "id": "0111247",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111247"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111247"
}