{
    "disease_id": "DOID:0061002",
    "recommended_name": {
        "id": "DOID:0061002",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061002",
        "name": "congenital amegakaryocytic thrombocytopenia 2",
        "description": "A thrombocytopenia characterized by thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure that has_material_basis_in homozygous mutation in the THPO gene on chromosome 3q27."
    },
    "synonyms": [
        {
            "id": "MONDO:0957575",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957575",
            "name": "amegakaryocytic thrombocytopenia, congenital, 2",
            "description": ""
        },
        {
            "id": "MIM:620481",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620481",
            "name": "Amegakaryocytic thrombocytopenia, congenital, 2",
            "description": "Amegakaryocytic thrombocytopenia, congenital, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061002"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061002",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061002",
            "categories": []
        },
        {
            "id": "MONDO:0957575",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957575",
            "categories": []
        },
        {
            "id": "MIM:620481",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620481",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M6Z2C6-1",
            "uniprot_ac": "A0A8M6Z2C6",
            "uniprot_id": "A0A8M6Z2C6_DANRE",
            "refseq_ac": "XP_017212992",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thrombopoietin isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "thrombopoietin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "thpo",
                    "type": "recommended"
                },
                {
                    "name": "thpo",
                    "type": "synonym"
                },
                {
                    "name": "tpo",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6Z2C6-1",
            "evidence": [
                {
                    "id": "0061002",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061002"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40226-1",
            "uniprot_ac": "P40226",
            "uniprot_id": "TPO_MOUSE",
            "refseq_ac": "NP_001166976",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thrombopoietin",
                    "type": "recommended"
                },
                {
                    "name": "C-mpl ligand",
                    "type": "synonym"
                },
                {
                    "name": "MGDF",
                    "type": "synonym"
                },
                {
                    "name": "ML",
                    "type": "synonym"
                },
                {
                    "name": "Megakaryocyte colony-stimulating factor",
                    "type": "synonym"
                },
                {
                    "name": "Megakaryocyte growth and development factor",
                    "type": "synonym"
                },
                {
                    "name": "Myeloproliferative leukemia virus oncogene ligand",
                    "type": "synonym"
                },
                {
                    "name": "megakaryocyte colony-stimulating factor",
                    "type": "synonym"
                },
                {
                    "name": "megakaryocyte growth and development factor",
                    "type": "synonym"
                },
                {
                    "name": "myeloproliferative leukemia virus oncogene ligand",
                    "type": "synonym"
                },
                {
                    "name": "thrombopoietin isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Thpo",
                    "type": "recommended"
                },
                {
                    "name": "Mgdf",
                    "type": "synonym"
                },
                {
                    "name": "Ml",
                    "type": "synonym"
                },
                {
                    "name": "Mpllg",
                    "type": "synonym"
                },
                {
                    "name": "Thpo",
                    "type": "synonym"
                },
                {
                    "name": "Tpo",
                    "type": "synonym"
                }
            ],
            "record_id": "P40226-1",
            "evidence": [
                {
                    "id": "0061002",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061002"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40225-1",
            "uniprot_ac": "P40225",
            "uniprot_id": "TPO_HUMAN",
            "refseq_ac": "NP_001276926",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thrombopoietin",
                    "type": "recommended"
                },
                {
                    "name": "C-mpl ligand",
                    "type": "synonym"
                },
                {
                    "name": "MGDF",
                    "type": "synonym"
                },
                {
                    "name": "ML",
                    "type": "synonym"
                },
                {
                    "name": "MPL ligand",
                    "type": "synonym"
                },
                {
                    "name": "Megakaryocyte colony-stimulating factor",
                    "type": "synonym"
                },
                {
                    "name": "Megakaryocyte growth and development factor",
                    "type": "synonym"
                },
                {
                    "name": "Myeloproliferative leukemia virus oncogene ligand",
                    "type": "synonym"
                },
                {
                    "name": "c-mpl ligand",
                    "type": "synonym"
                },
                {
                    "name": "megakaryocyte colony-stimulating factor",
                    "type": "synonym"
                },
                {
                    "name": "megakaryocyte growth and development factor",
                    "type": "synonym"
                },
                {
                    "name": "megakaryocyte stimulating factor",
                    "type": "synonym"
                },
                {
                    "name": "myeloproliferative leukemia virus oncogene ligand",
                    "type": "synonym"
                },
                {
                    "name": "prepro-thrombopoietin",
                    "type": "synonym"
                },
                {
                    "name": "thrombopoietin isoform 4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "thrombopoietin nirs",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "THPO",
                    "type": "recommended"
                },
                {
                    "name": "CAMT2",
                    "type": "synonym"
                },
                {
                    "name": "MGDF",
                    "type": "synonym"
                },
                {
                    "name": "MKCSF",
                    "type": "synonym"
                },
                {
                    "name": "ML",
                    "type": "synonym"
                },
                {
                    "name": "MPLLG",
                    "type": "synonym"
                },
                {
                    "name": "THC9",
                    "type": "synonym"
                },
                {
                    "name": "THCYT1",
                    "type": "synonym"
                },
                {
                    "name": "THPO",
                    "type": "synonym"
                },
                {
                    "name": "TPO",
                    "type": "synonym"
                }
            ],
            "record_id": "P40225-1",
            "evidence": [
                {
                    "id": "620481",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620481"
                },
                {
                    "id": "0061002",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061002"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49745-1",
            "uniprot_ac": "P49745",
            "uniprot_id": "TPO_RAT",
            "refseq_ac": "NP_112395",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thrombopoietin",
                    "type": "recommended"
                },
                {
                    "name": "thrombopoietin precursor",
                    "type": "synonym"
                },
                {
                    "name": "thrombopoietin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Thpol1",
                    "type": "recommended"
                },
                {
                    "name": "Thpo",
                    "type": "recommended"
                },
                {
                    "name": "Thpol1",
                    "type": "synonym"
                },
                {
                    "name": "Thpo",
                    "type": "synonym"
                }
            ],
            "record_id": "P49745-1",
            "evidence": [
                {
                    "id": "0061002",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061002"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061002"
}