{
    "disease_id": "DOID:0050734",
    "recommended_name": {
        "id": "DOID:0050734",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050734",
        "name": "congenital intrinsic factor deficiency",
        "description": "A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption."
    },
    "synonyms": [
        {
            "id": "DOID:0050734",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050734",
            "name": "hereditary intrinsic factor deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009852",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009852",
            "name": "hereditary intrinsic factor deficiency",
            "description": "Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities."
        },
        {
            "id": "MONDO:0009852",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009852",
            "name": "intrinsic factor deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009852",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009852",
            "name": "IFD",
            "description": ""
        },
        {
            "id": "MONDO:0009852",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009852",
            "name": "congenital intrinsic factor deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009852",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009852",
            "name": "congenital pernicious anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0009852",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009852",
            "name": "congenital pernicious anemia",
            "description": ""
        },
        {
            "id": "MONDO:0009852",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009852",
            "name": "gastric intrinsic factor deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009852",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009852",
            "name": "hereditary juvenile megaloblastic anaemia due to intrinsic factor deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009852",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009852",
            "name": "hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009852",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009852",
            "name": "congenital pernicious anaemia due to defect of intrinsic factor",
            "description": ""
        },
        {
            "id": "MONDO:0009852",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009852",
            "name": "congenital pernicious anemia due to defect of intrinsic factor",
            "description": ""
        },
        {
            "id": "MONDO:0009852",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009852",
            "name": "intrinsic factor, congenital deficiency of",
            "description": ""
        },
        {
            "id": "MIM:261000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/261000",
            "name": "Hereditary intrinsic factor deficiency",
            "description": "Hereditary intrinsic factor deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050734"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050734",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050734",
            "categories": []
        },
        {
            "id": "MONDO:0009852",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009852",
            "categories": []
        },
        {
            "id": "MIM:261000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/261000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P52787-1",
            "uniprot_ac": "P52787",
            "uniprot_id": "IF_MOUSE",
            "refseq_ac": "NP_032144",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cobalamin binding intrinsic factor",
                    "type": "recommended"
                },
                {
                    "name": "Gastric intrinsic factor",
                    "type": "synonym"
                },
                {
                    "name": "IF",
                    "type": "synonym"
                },
                {
                    "name": "INF",
                    "type": "synonym"
                },
                {
                    "name": "Intrinsic factor",
                    "type": "synonym"
                },
                {
                    "name": "cobalamin binding intrinsic factor precursor",
                    "type": "synonym"
                },
                {
                    "name": "gastric intrinsic factor",
                    "type": "synonym"
                },
                {
                    "name": "intrinsic factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cblif",
                    "type": "recommended"
                },
                {
                    "name": "Cblif",
                    "type": "synonym"
                },
                {
                    "name": "Gif",
                    "type": "synonym"
                },
                {
                    "name": "IF",
                    "type": "synonym"
                },
                {
                    "name": "INF",
                    "type": "synonym"
                }
            ],
            "record_id": "P52787-1",
            "evidence": [
                {
                    "id": "0050734",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050734"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P27352-1",
            "uniprot_ac": "P27352",
            "uniprot_id": "IF_HUMAN",
            "refseq_ac": "NP_005133",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cobalamin binding intrinsic factor",
                    "type": "recommended"
                },
                {
                    "name": "Gastric intrinsic factor",
                    "type": "synonym"
                },
                {
                    "name": "IF",
                    "type": "synonym"
                },
                {
                    "name": "INF",
                    "type": "synonym"
                },
                {
                    "name": "Intrinsic factor",
                    "type": "synonym"
                },
                {
                    "name": "cobalamin binding intrinsic factor precursor",
                    "type": "synonym"
                },
                {
                    "name": "gastric intrinsic factor (vitamin B synthesis)",
                    "type": "synonym"
                },
                {
                    "name": "intrinsic factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CBLIF",
                    "type": "recommended"
                },
                {
                    "name": "CBLIF",
                    "type": "synonym"
                },
                {
                    "name": "GIF",
                    "type": "synonym"
                },
                {
                    "name": "IFMH",
                    "type": "synonym"
                },
                {
                    "name": "IF",
                    "type": "synonym"
                },
                {
                    "name": "INF",
                    "type": "synonym"
                },
                {
                    "name": "TCN3",
                    "type": "synonym"
                }
            ],
            "record_id": "P27352-1",
            "evidence": [
                {
                    "id": "261000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/261000"
                },
                {
                    "id": "0050734",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050734"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17267-1",
            "uniprot_ac": "P17267",
            "uniprot_id": "IF_RAT",
            "refseq_ac": "NP_058858",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cobalamin binding intrinsic factor",
                    "type": "recommended"
                },
                {
                    "name": "Gastric intrinsic factor",
                    "type": "synonym"
                },
                {
                    "name": "IF",
                    "type": "synonym"
                },
                {
                    "name": "INF",
                    "type": "synonym"
                },
                {
                    "name": "Intrinsic factor",
                    "type": "synonym"
                },
                {
                    "name": "cobalamin binding intrinsic factor precursor",
                    "type": "synonym"
                },
                {
                    "name": "gastric intrinsic factor",
                    "type": "synonym"
                },
                {
                    "name": "intrinsic factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cblif",
                    "type": "recommended"
                },
                {
                    "name": "Cblif",
                    "type": "synonym"
                },
                {
                    "name": "Gif",
                    "type": "synonym"
                }
            ],
            "record_id": "P17267-1",
            "evidence": [
                {
                    "id": "0050734",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050734"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W4K2-1",
            "uniprot_ac": "Q9W4K2",
            "uniprot_id": "Y3556_DROME",
            "refseq_ac": "NP_001245529",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein CG3556",
                    "type": "recommended"
                },
                {
                    "name": "CG3556-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG3556",
                    "type": "recommended"
                },
                {
                    "name": "CG3556",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3556",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3556",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W4K2-1",
            "evidence": [
                {
                    "id": "0050734",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050734"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050734"
}