{
    "disease_id": "DOID:0050717",
    "recommended_name": {
        "id": "DOID:0050717",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050717",
        "name": "methylmalonic aciduria and homocystinuria type cblF",
        "description": "A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) and that has_material_basis_in homozygous or compound heterozygous mutation in the LMBRD1 gene on chromosome 6q13."
    },
    "synonyms": [
        {
            "id": "DOID:0050717",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050717",
            "name": "Cobalamin F deficiency",
            "description": ""
        },
        {
            "id": "DOID:0050717",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050717",
            "name": "MAHCF",
            "description": ""
        },
        {
            "id": "MONDO:0010183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010183",
            "name": "methylmalonic aciduria and homocystinuria type cblF",
            "description": "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner."
        },
        {
            "id": "MONDO:0010183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010183",
            "name": "cblF defect",
            "description": ""
        },
        {
            "id": "MONDO:0010183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010183",
            "name": "cobalamin F defect",
            "description": ""
        },
        {
            "id": "MONDO:0010183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010183",
            "name": "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF",
            "description": ""
        },
        {
            "id": "MONDO:0010183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010183",
            "name": "inherited methylmalonic acidemia and homocystinuria",
            "description": ""
        },
        {
            "id": "MONDO:0010183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010183",
            "name": "lysosomal membrane cobalamin transporter deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010183",
            "name": "methylmalonic aciduria and homocystinuria type cblF",
            "description": ""
        },
        {
            "id": "MONDO:0010183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010183",
            "name": "methylmalonic aciduria with homocystinuria, type cblF",
            "description": ""
        },
        {
            "id": "MONDO:0010183",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010183",
            "name": "MAHCF",
            "description": ""
        },
        {
            "id": "MIM:277380",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/277380",
            "name": "Methylmalonic aciduria and homocystinuria, cblF type",
            "description": "Methylmalonic aciduria and homocystinuria, cblF type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050717"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050717",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050717",
            "categories": []
        },
        {
            "id": "MONDO:0010183",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010183",
            "categories": []
        },
        {
            "id": "MIM:277380",
            "database": "MIM",
            "url": "https://www.omim.org/entry/277380",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5PR61-1",
            "uniprot_ac": "Q5PR61",
            "uniprot_id": "LMBD1_DANRE",
            "refseq_ac": "NP_001008612",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysosomal cobalamin transport escort protein LMBD1",
                    "type": "recommended"
                },
                {
                    "name": "LMBD1",
                    "type": "synonym"
                },
                {
                    "name": "LMBR1 domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal cobalamin transport escort protein LMBD1",
                    "type": "synonym"
                },
                {
                    "name": "probable lysosomal cobalamin transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lmbrd1",
                    "type": "recommended"
                },
                {
                    "name": "LMBD1",
                    "type": "synonym"
                },
                {
                    "name": "fc08a03",
                    "type": "synonym"
                },
                {
                    "name": "lmbrd1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc08a03",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103471",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5PR61-1",
            "evidence": [
                {
                    "id": "0050717",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050717"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K0B2-1",
            "uniprot_ac": "Q8K0B2",
            "uniprot_id": "LMBD1_MOUSE",
            "refseq_ac": "NP_001297412",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysosomal cobalamin transport escort protein LMBD1",
                    "type": "recommended"
                },
                {
                    "name": "LMBD1",
                    "type": "synonym"
                },
                {
                    "name": "LMBR1 domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein N90b",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal cobalamin transport escort protein LMBD1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal cobalamin transport escort protein LMBD1",
                    "type": "synonym"
                },
                {
                    "name": "probable lysosomal cobalamin transporter",
                    "type": "synonym"
                },
                {
                    "name": "protein N90b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lmbrd1",
                    "type": "recommended"
                },
                {
                    "name": "0910001K20Rik",
                    "type": "synonym"
                },
                {
                    "name": "LMBD1",
                    "type": "synonym"
                },
                {
                    "name": "Lmbrd1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K0B2-1",
            "evidence": [
                {
                    "id": "0050717",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050717"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NUN5-1",
            "uniprot_ac": "Q9NUN5",
            "uniprot_id": "LMBD1_HUMAN",
            "refseq_ac": "NP_060838",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysosomal cobalamin transport escort protein LMBD1",
                    "type": "recommended"
                },
                {
                    "name": "HDAg-L-interacting protein NESI",
                    "type": "synonym"
                },
                {
                    "name": "LMBD1",
                    "type": "synonym"
                },
                {
                    "name": "LMBR1 domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear export signal-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "hepatitis delta antigen-L interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "liver regeneration p-53 related protein",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal cobalamin transport escort protein LMBD1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal cobalamin transport escort protein LMBD1",
                    "type": "synonym"
                },
                {
                    "name": "nuclear export signal-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "probable lysosomal cobalamin transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LMBRD1",
                    "type": "recommended"
                },
                {
                    "name": "BM-021",
                    "type": "synonym"
                },
                {
                    "name": "C6orf209",
                    "type": "synonym"
                },
                {
                    "name": "CD001",
                    "type": "synonym"
                },
                {
                    "name": "LMBD1",
                    "type": "synonym"
                },
                {
                    "name": "LMBRD1",
                    "type": "synonym"
                },
                {
                    "name": "MAHCF",
                    "type": "synonym"
                },
                {
                    "name": "MSTP044",
                    "type": "synonym"
                },
                {
                    "name": "NESI",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NUN5-1",
            "evidence": [
                {
                    "id": "277380",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/277380"
                },
                {
                    "id": "0050717",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050717"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6AZ61-1",
            "uniprot_ac": "Q6AZ61",
            "uniprot_id": "LMBD1_RAT",
            "refseq_ac": "NP_631928",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysosomal cobalamin transport escort protein LMBD1",
                    "type": "recommended"
                },
                {
                    "name": "LMBD1",
                    "type": "synonym"
                },
                {
                    "name": "LMBR1 domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "liver regeneration p-53 related protein",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal cobalamin transport escort protein LMBD1",
                    "type": "synonym"
                },
                {
                    "name": "probable lysosomal cobalamin transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lmbrd1",
                    "type": "recommended"
                },
                {
                    "name": "LMBD1",
                    "type": "synonym"
                },
                {
                    "name": "Lmbrd1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6AZ61-1",
            "evidence": [
                {
                    "id": "0050717",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050717"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050717"
}