{
    "disease_id": "DOID:0070742",
    "recommended_name": {
        "id": "DOID:0070742",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070742",
        "name": "combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia",
        "description": "A vitamin metabolic disorder characterized by combined immunodeficiency, megaloblastic anemia, and variable additional phenotypes including hyperhomocysteinemia, hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mildly impaired intellectual development, lymphopenia involving all subsets, and low T-cell receptor excision circles that has_material_basis_in compound heterozygous mutation in the MTHFD1 gene on chromosome 14q23."
    },
    "synonyms": [
        {
            "id": "DOID:0070742",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070742",
            "name": "methylenetetrahydrofolate dehydrogenase 1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0070742",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070742",
            "name": "CIMAH",
            "description": ""
        },
        {
            "id": "DOID:0070742",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070742",
            "name": "MTHFD1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0060611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060611",
            "name": "combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia",
            "description": ""
        },
        {
            "id": "MONDO:0060611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060611",
            "name": "combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia",
            "description": ""
        },
        {
            "id": "MONDO:0060611",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060611",
            "name": "CIMAH",
            "description": ""
        },
        {
            "id": "MIM:617780",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617780",
            "name": "Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia",
            "description": "Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070742"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070742",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070742",
            "categories": []
        },
        {
            "id": "MONDO:0060611",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060611",
            "categories": []
        },
        {
            "id": "MIM:617780",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617780",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P11586-1",
            "uniprot_ac": "P11586",
            "uniprot_id": "C1TC_HUMAN",
            "refseq_ac": "NP_005947",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "C-1-tetrahydrofolate synthase, cytoplasmic",
                    "type": "recommended"
                },
                {
                    "name": "5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methylenetetrahydrofolate cyclohydrolase, 10-formyltetrahydrofolate synthetase",
                    "type": "synonym"
                },
                {
                    "name": "C-1-tetrahydrofolate synthase, cytoplasmic isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "C-1-tetrahydrofolate synthase, cytoplasmic",
                    "type": "synonym"
                },
                {
                    "name": "C1-THF synthase",
                    "type": "synonym"
                },
                {
                    "name": "Epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic C-1-tetrahydrofolate synthase",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MTHFD1",
                    "type": "recommended"
                },
                {
                    "name": "CIMAH",
                    "type": "synonym"
                },
                {
                    "name": "MTHFC",
                    "type": "synonym"
                },
                {
                    "name": "MTHFD1",
                    "type": "synonym"
                },
                {
                    "name": "MTHFD",
                    "type": "synonym"
                }
            ],
            "record_id": "P11586-1",
            "evidence": [
                {
                    "id": "617780",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617780"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070742"
}