{
    "disease_id": "DOID:0090118",
    "recommended_name": {
        "id": "DOID:0090118",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090118",
        "name": "congenital amegakaryocytic thrombocytopenia",
        "description": "A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers."
    },
    "synonyms": [
        {
            "id": "DOID:0090118",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090118",
            "name": "CAMT",
            "description": ""
        },
        {
            "id": "DOID:0090118",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090118",
            "name": "congenital amegakaryocytic thrombocytopenic purpura",
            "description": ""
        }
    ],
    "children": [
        {
            "id": "DOID:0061002",
            "label": "congenital amegakaryocytic thrombocytopenia 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061005",
            "label": "congenital amegakaryocytic thrombocytopenia 1",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0090118",
        "DOID:0061002",
        "DOID:0061005"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090118",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090118",
            "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": "0090118",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090118"
                }
            ]
        },
        {
            "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": "0090118",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090118"
                }
            ]
        },
        {
            "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": "0090118",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090118"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090118"
}