{
    "disease_id": "DOID:0111422",
    "recommended_name": {
        "id": "DOID:0111422",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111422",
        "name": "familial lipase maturation factor 1 deficiency",
        "description": "A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in the LMF1 gene on chromosome 16p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111422",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111422",
            "name": "LPL and HL deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111422",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111422",
            "name": "LPL and HTGL deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111422",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111422",
            "name": "combined lipase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111422",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111422",
            "name": "familial LMF1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111422",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111422",
            "name": "lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009527",
            "name": "lipase deficiency, combined",
            "description": "A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders."
        },
        {
            "id": "MONDO:0009527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009527",
            "name": "combined lipase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009527",
            "name": "familial lipase maturation factor 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009527",
            "name": "lipase deficiency, combined",
            "description": ""
        },
        {
            "id": "MONDO:0009527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009527",
            "name": "lipase deficiency combined",
            "description": ""
        },
        {
            "id": "MIM:246650",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/246650",
            "name": "Combined lipase deficiency",
            "description": "Combined lipase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111422"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111422",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111422",
            "categories": []
        },
        {
            "id": "MONDO:0009527",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009527",
            "categories": []
        },
        {
            "id": "MIM:246650",
            "database": "MIM",
            "url": "https://www.omim.org/entry/246650",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q3U3R4-1",
            "uniprot_ac": "Q3U3R4",
            "uniprot_id": "LMF1_MOUSE",
            "refseq_ac": "NP_083900",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lipase maturation factor 1",
                    "type": "recommended"
                },
                {
                    "name": "Transmembrane protein 112",
                    "type": "synonym"
                },
                {
                    "name": "lipase maturation factor 1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 112",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lmf1",
                    "type": "recommended"
                },
                {
                    "name": "2400010G15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Lmf1",
                    "type": "synonym"
                },
                {
                    "name": "Tmem112",
                    "type": "synonym"
                },
                {
                    "name": "cld",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3U3R4-1",
            "evidence": [
                {
                    "id": "0111422",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111422"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96S06-1",
            "uniprot_ac": "Q96S06",
            "uniprot_id": "LMF1_HUMAN",
            "refseq_ac": "NP_073610",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lipase maturation factor 1",
                    "type": "recommended"
                },
                {
                    "name": "Transmembrane protein 112",
                    "type": "synonym"
                },
                {
                    "name": "lipase maturation factor 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 112",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LMF1",
                    "type": "recommended"
                },
                {
                    "name": "C16orf26",
                    "type": "synonym"
                },
                {
                    "name": "HMFN1876",
                    "type": "synonym"
                },
                {
                    "name": "JFP11",
                    "type": "synonym"
                },
                {
                    "name": "LMF1",
                    "type": "synonym"
                },
                {
                    "name": "TMEM112A",
                    "type": "synonym"
                },
                {
                    "name": "TMEM112",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96S06-1",
            "evidence": [
                {
                    "id": "246650",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/246650"
                },
                {
                    "id": "0111422",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111422"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0L304-1",
            "uniprot_ac": "A0ABK0L304",
            "uniprot_id": "A0ABK0L304_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lipase maturation factor",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Lmf1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0L304-1",
            "evidence": [
                {
                    "id": "0111422",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111422"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111422"
}