{
    "disease_id": "DOID:0061005",
    "recommended_name": {
        "id": "DOID:0061005",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061005",
        "name": "congenital amegakaryocytic thrombocytopenia 1",
        "description": "A congenital amegakaryocytic thrombocytopenia that is characterized by onset of thrombocytopenia and megakaryocytopenia in infancy or early childhood that has_material_basis_in autosomal homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene on chromosome 1p34."
    },
    "synonyms": [
        {
            "id": "MONDO:0800452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800452",
            "name": "congenital amegakaryocytic thrombocytopenia 1",
            "description": "A rare inherited bone marrow failure syndrome, in which the cause of the disease is a variation in the MPL gene. It is characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood."
        },
        {
            "id": "MONDO:0800452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800452",
            "name": "CAMT1",
            "description": ""
        },
        {
            "id": "MONDO:0800452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800452",
            "name": "amegakaryocytic thrombocytopenia, congenital 1",
            "description": ""
        },
        {
            "id": "MONDO:0800452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800452",
            "name": "thrombocytopenia, congenital amegakaryocytic",
            "description": ""
        },
        {
            "id": "MONDO:0800452",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800452",
            "name": "thrombocytopenia congenital amegakaryocytic",
            "description": ""
        },
        {
            "id": "MIM:604498",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604498",
            "name": "Amegakaryocytic thrombocytopenia, congenital, 1",
            "description": "Amegakaryocytic thrombocytopenia, congenital, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061005"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061005",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061005",
            "categories": []
        },
        {
            "id": "MONDO:0800452",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800452",
            "categories": []
        },
        {
            "id": "MIM:604498",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604498",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q08351-1",
            "uniprot_ac": "Q08351",
            "uniprot_id": "TPOR_MOUSE",
            "refseq_ac": "NP_001116421",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thrombopoietin receptor",
                    "type": "recommended"
                },
                {
                    "name": "Myeloproliferative leukemia protein",
                    "type": "synonym"
                },
                {
                    "name": "Proto-oncogene c-Mpl",
                    "type": "synonym"
                },
                {
                    "name": "TPO-R",
                    "type": "synonym"
                },
                {
                    "name": "myeloproliferative leukemia protein",
                    "type": "synonym"
                },
                {
                    "name": "myeloproliferative leukemia virus oncogene",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene c-Mpl",
                    "type": "synonym"
                },
                {
                    "name": "thrombopoietin receptor isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "thrombopoietin receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mpl",
                    "type": "recommended"
                },
                {
                    "name": "CD110",
                    "type": "synonym"
                },
                {
                    "name": "Mpl",
                    "type": "synonym"
                },
                {
                    "name": "TPO-R",
                    "type": "synonym"
                },
                {
                    "name": "Tpor",
                    "type": "synonym"
                },
                {
                    "name": "c-mpl",
                    "type": "synonym"
                },
                {
                    "name": "hlb219",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08351-1",
            "evidence": [
                {
                    "id": "0061005",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061005"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40238-1",
            "uniprot_ac": "P40238",
            "uniprot_id": "TPOR_HUMAN",
            "refseq_ac": "NP_005364",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thrombopoietin receptor",
                    "type": "recommended"
                },
                {
                    "name": "Myeloproliferative leukemia protein",
                    "type": "synonym"
                },
                {
                    "name": "Proto-oncogene c-Mpl",
                    "type": "synonym"
                },
                {
                    "name": "TPO-R",
                    "type": "synonym"
                },
                {
                    "name": "myeloproliferative leukemia protein",
                    "type": "synonym"
                },
                {
                    "name": "myeloproliferative leukemia virus oncogene",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene c-Mpl",
                    "type": "synonym"
                },
                {
                    "name": "thrombopoietin receptor precursor",
                    "type": "synonym"
                },
                {
                    "name": "thrombopoietin receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MPL",
                    "type": "recommended"
                },
                {
                    "name": "C-MPL",
                    "type": "synonym"
                },
                {
                    "name": "CD110",
                    "type": "synonym"
                },
                {
                    "name": "MPLV",
                    "type": "synonym"
                },
                {
                    "name": "MPL",
                    "type": "synonym"
                },
                {
                    "name": "THCYT2",
                    "type": "synonym"
                },
                {
                    "name": "THPOR",
                    "type": "synonym"
                },
                {
                    "name": "TPOR",
                    "type": "synonym"
                }
            ],
            "record_id": "P40238-1",
            "evidence": [
                {
                    "id": "604498",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604498"
                },
                {
                    "id": "0061005",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061005"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A1W2Q6N1-1",
            "uniprot_ac": "A0A1W2Q6N1",
            "uniprot_id": "A0A1W2Q6N1_RAT",
            "refseq_ac": "NP_001406773",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thrombopoietin receptor",
                    "type": "recommended"
                },
                {
                    "name": "Myeloproliferative leukemia protein",
                    "type": "synonym"
                },
                {
                    "name": "Proto-oncogene c-Mpl",
                    "type": "synonym"
                },
                {
                    "name": "myeloproliferative leukemia virus oncogene",
                    "type": "synonym"
                },
                {
                    "name": "thrombopoietin receptor precursor",
                    "type": "synonym"
                },
                {
                    "name": "thrombopoietin receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mpl",
                    "type": "recommended"
                },
                {
                    "name": "Mpl",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A1W2Q6N1-1",
            "evidence": [
                {
                    "id": "0061005",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061005"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061005"
}