{
    "disease_id": "DOID:0111053",
    "recommended_name": {
        "id": "DOID:0111053",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111053",
        "name": "platelet-type bleeding disorder 15",
        "description": "A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q."
    },
    "synonyms": [
        {
            "id": "DOID:0111053",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111053",
            "name": "BDPLT15",
            "description": ""
        },
        {
            "id": "DOID:0111053",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111053",
            "name": "autosomal dominant macrothrombocytopenia ACTN1-related",
            "description": ""
        },
        {
            "id": "MONDO:0014078",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014078",
            "name": "platelet-type bleeding disorder 15",
            "description": "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene."
        },
        {
            "id": "MONDO:0014078",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014078",
            "name": "ACTN1 inherited bleeding disorder, platelet-type",
            "description": ""
        },
        {
            "id": "MONDO:0014078",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014078",
            "name": "BDPLT15",
            "description": ""
        },
        {
            "id": "MONDO:0014078",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014078",
            "name": "inherited bleeding disorder, platelet-type caused by mutation in ACTN1",
            "description": ""
        },
        {
            "id": "MONDO:0014078",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014078",
            "name": "platelet-type bleeding disorder 15",
            "description": ""
        },
        {
            "id": "MONDO:0014078",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014078",
            "name": "bleeding disorder, platelet-type, 15",
            "description": ""
        },
        {
            "id": "MIM:615193",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615193",
            "name": "Bleeding disorder, platelet-type, 15",
            "description": "Bleeding disorder, platelet-type, 15"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111053"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111053",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111053",
            "categories": []
        },
        {
            "id": "MONDO:0014078",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014078",
            "categories": []
        },
        {
            "id": "MIM:615193",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615193",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32T375-1",
            "uniprot_ac": "A0AB32T375",
            "uniprot_id": "A0AB32T375_DANRE",
            "refseq_ac": "XP_068068966",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-actinin-1 isoform X6",
                    "type": "synonym"
                },
                {
                    "name": "alpha-actinin-1 isoform X6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "actn1",
                    "type": "recommended"
                },
                {
                    "name": "actn1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32T375-1",
            "evidence": [
                {
                    "id": "0111053",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111053"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TPR4-1",
            "uniprot_ac": "Q7TPR4",
            "uniprot_id": "ACTN1_MOUSE",
            "refseq_ac": "NP_598917",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-actinin-1",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-actinin cytoskeletal isoform",
                    "type": "synonym"
                },
                {
                    "name": "F-actin cross-linking protein",
                    "type": "synonym"
                },
                {
                    "name": "Non-muscle alpha-actinin-1",
                    "type": "synonym"
                },
                {
                    "name": "alpha actinin 1a",
                    "type": "synonym"
                },
                {
                    "name": "alpha-actinin-1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-actinin-1",
                    "type": "synonym"
                },
                {
                    "name": "non-muscle alpha-actinin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Actn1",
                    "type": "recommended"
                },
                {
                    "name": "3110023F10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Actn1a",
                    "type": "synonym"
                },
                {
                    "name": "Actn1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TPR4-1",
            "evidence": [
                {
                    "id": "0111053",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111053"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12814-1",
            "uniprot_ac": "P12814",
            "uniprot_id": "ACTN1_HUMAN",
            "refseq_ac": "NP_001093",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-actinin-1",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-actinin cytoskeletal isoform",
                    "type": "synonym"
                },
                {
                    "name": "F-actin cross-linking protein",
                    "type": "synonym"
                },
                {
                    "name": "Non-muscle alpha-actinin-1",
                    "type": "synonym"
                },
                {
                    "name": "actinin 1 smooth muscle",
                    "type": "synonym"
                },
                {
                    "name": "alpha-actinin-1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "non-muscle alpha-actinin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ACTN1",
                    "type": "recommended"
                },
                {
                    "name": "ACTN1",
                    "type": "synonym"
                },
                {
                    "name": "BDPLT15",
                    "type": "synonym"
                }
            ],
            "record_id": "P12814-1",
            "evidence": [
                {
                    "id": "615193",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615193"
                },
                {
                    "id": "0111053",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111053"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z1P2-1",
            "uniprot_ac": "Q9Z1P2",
            "uniprot_id": "ACTN1_RAT",
            "refseq_ac": "NP_112267",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-actinin-1",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-actinin cytoskeletal isoform",
                    "type": "synonym"
                },
                {
                    "name": "F-actin cross-linking protein",
                    "type": "synonym"
                },
                {
                    "name": "Non-muscle alpha-actinin-1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-actinin-1",
                    "type": "synonym"
                },
                {
                    "name": "cytoskeletal protein",
                    "type": "synonym"
                },
                {
                    "name": "non-muscle alpha-actinin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Actn1",
                    "type": "recommended"
                },
                {
                    "name": "Actn1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z1P2-1",
            "evidence": [
                {
                    "id": "0111053",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111053"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18091-3",
            "uniprot_ac": "P18091",
            "uniprot_id": "ACTN_DROME",
            "refseq_ac": "NP_001188532",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-actinin, sarcomeric",
                    "type": "recommended"
                },
                {
                    "name": "Actn-PD",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-actinin",
                    "type": "synonym"
                },
                {
                    "name": "CG4376-PD",
                    "type": "synonym"
                },
                {
                    "name": "F-actin cross-linking protein",
                    "type": "synonym"
                },
                {
                    "name": "a-actinin",
                    "type": "synonym"
                },
                {
                    "name": "alpha actinin, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "flightless A",
                    "type": "synonym"
                },
                {
                    "name": "flightless-A",
                    "type": "synonym"
                },
                {
                    "name": "lethal(1)2cb",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Actn",
                    "type": "recommended"
                },
                {
                    "name": "ACTN",
                    "type": "synonym"
                },
                {
                    "name": "Actn",
                    "type": "synonym"
                },
                {
                    "name": "CG4376",
                    "type": "synonym"
                },
                {
                    "name": "CT14163",
                    "type": "synonym"
                },
                {
                    "name": "CT14232",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4376",
                    "type": "synonym"
                },
                {
                    "name": "EG:133E12.1",
                    "type": "synonym"
                },
                {
                    "name": "GA17",
                    "type": "synonym"
                },
                {
                    "name": "HM-29",
                    "type": "synonym"
                },
                {
                    "name": "actn",
                    "type": "synonym"
                },
                {
                    "name": "alpha-actinin",
                    "type": "synonym"
                },
                {
                    "name": "alphaActn",
                    "type": "synonym"
                },
                {
                    "name": "fliA",
                    "type": "synonym"
                },
                {
                    "name": "l(1)2Cb",
                    "type": "synonym"
                },
                {
                    "name": "l(1)EA82",
                    "type": "synonym"
                },
                {
                    "name": "y",
                    "type": "synonym"
                }
            ],
            "record_id": "P18091-3",
            "evidence": [
                {
                    "id": "0111053",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111053"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111053"
}