{
    "disease_id": "DOID:0090031",
    "recommended_name": {
        "id": "DOID:0090031",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090031",
        "name": "D-bifunctional protein deficiency",
        "description": "A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dying before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2."
    },
    "synonyms": [
        {
            "id": "MONDO:0009855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009855",
            "name": "d-bifunctional protein deficiency",
            "description": "A genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition nevergain anydevelopmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner. Some researchers have suggested classifying DBP deficiency into three subtypes, depending on how severely the mutation in the HSD17B4 gene affects the function of the gene and the protein that it codes for. Almost all individuals with types I, II, and III have similar signs and symptoms. A fourth subtype has additionally been proposed for individuals that have less severe symptoms. While there is no cure for DBP deficiency, treatment is focused on improving nutrition and growth, controlling symptoms, and limiting the progression of liver disease."
        },
        {
            "id": "MONDO:0009855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009855",
            "name": "D-bifunctional enzyme deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009855",
            "name": "HSD17B4 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009855",
            "name": "d-bifunctional protein deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009855",
            "name": "multifunctional enzyme deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009855",
            "name": "peroxisomal multifunctional enzyme (MFE2) deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009855",
            "name": "peroxisomal multifunctional enzyme deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009855",
            "name": "pseudo-Zellweger syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009855",
            "name": "17-beta-hydroxysteroid dehydrogenase IV deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009855",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009855",
            "name": "bifunctional enzyme deficiency",
            "description": ""
        },
        {
            "id": "MIM:261515",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/261515",
            "name": "D-bifunctional protein deficiency",
            "description": "D-bifunctional protein deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090031"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090031",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090031",
            "categories": []
        },
        {
            "id": "MONDO:0009855",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009855",
            "categories": []
        },
        {
            "id": "MIM:261515",
            "database": "MIM",
            "url": "https://www.omim.org/entry/261515",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P51660-1",
            "uniprot_ac": "P51660",
            "uniprot_id": "DHB4_MOUSE",
            "refseq_ac": "NP_032318",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal multifunctional enzyme type 2",
                    "type": "recommended"
                },
                {
                    "name": "17-beta-HSD 4",
                    "type": "synonym"
                },
                {
                    "name": "17-beta-hydroxysteroid dehydrogenase 4",
                    "type": "synonym"
                },
                {
                    "name": "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase",
                    "type": "synonym"
                },
                {
                    "name": "D-bifunctional protein",
                    "type": "synonym"
                },
                {
                    "name": "DBP",
                    "type": "synonym"
                },
                {
                    "name": "MFE-2",
                    "type": "synonym"
                },
                {
                    "name": "MFP-2",
                    "type": "synonym"
                },
                {
                    "name": "Multifunctional protein 2",
                    "type": "synonym"
                },
                {
                    "name": "multifunctional protein 2",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal multifunctional enzyme type 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hsd17b4",
                    "type": "recommended"
                },
                {
                    "name": "17-beta-HSD",
                    "type": "synonym"
                },
                {
                    "name": "17[b]-HSD",
                    "type": "synonym"
                },
                {
                    "name": "DBP",
                    "type": "synonym"
                },
                {
                    "name": "Edh17b4",
                    "type": "synonym"
                },
                {
                    "name": "Hsd17b4",
                    "type": "synonym"
                },
                {
                    "name": "MFE-2",
                    "type": "synonym"
                },
                {
                    "name": "MFP2",
                    "type": "synonym"
                },
                {
                    "name": "MPF-2",
                    "type": "synonym"
                },
                {
                    "name": "Mfp-2",
                    "type": "synonym"
                },
                {
                    "name": "perMFE-2",
                    "type": "synonym"
                }
            ],
            "record_id": "P51660-1",
            "evidence": [
                {
                    "id": "0090031",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090031"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51659-1",
            "uniprot_ac": "P51659",
            "uniprot_id": "DHB4_HUMAN",
            "refseq_ac": "NP_000405",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal multifunctional enzyme type 2",
                    "type": "recommended"
                },
                {
                    "name": "17-beta-HSD 4",
                    "type": "synonym"
                },
                {
                    "name": "17-beta-HSD IV",
                    "type": "synonym"
                },
                {
                    "name": "17-beta-hydroxysteroid dehydrogenase 4",
                    "type": "synonym"
                },
                {
                    "name": "17beta-estradiol dehydrogenase type IV",
                    "type": "synonym"
                },
                {
                    "name": "3-alpha,7-alpha, 12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase",
                    "type": "synonym"
                },
                {
                    "name": "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase",
                    "type": "synonym"
                },
                {
                    "name": "D-3-hydroxyacyl-CoA dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "D-bifunctional protein, peroxisomal",
                    "type": "synonym"
                },
                {
                    "name": "D-bifunctional protein",
                    "type": "synonym"
                },
                {
                    "name": "DBP",
                    "type": "synonym"
                },
                {
                    "name": "MFE-2",
                    "type": "synonym"
                },
                {
                    "name": "MFP-2",
                    "type": "synonym"
                },
                {
                    "name": "Multifunctional protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Short chain dehydrogenase/reductase family 8C member 1",
                    "type": "synonym"
                },
                {
                    "name": "beta-hydroxyacyl dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "beta-keto-reductase",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "hydroxysteroid dehydrogenase 4",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal multifunctional enzyme type 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal multifunctional enzyme type 2",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal multifunctional protein 2",
                    "type": "synonym"
                },
                {
                    "name": "short chain dehydrogenase/reductase family 8C member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HSD17B4",
                    "type": "recommended"
                },
                {
                    "name": "DBP",
                    "type": "synonym"
                },
                {
                    "name": "EDH17B4",
                    "type": "synonym"
                },
                {
                    "name": "HSD17B4",
                    "type": "synonym"
                },
                {
                    "name": "MFE-2",
                    "type": "synonym"
                },
                {
                    "name": "MFP-2",
                    "type": "synonym"
                },
                {
                    "name": "MPF-2",
                    "type": "synonym"
                },
                {
                    "name": "PRLTS1",
                    "type": "synonym"
                },
                {
                    "name": "SDR8C1",
                    "type": "synonym"
                }
            ],
            "record_id": "P51659-1",
            "evidence": [
                {
                    "id": "261515",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/261515"
                },
                {
                    "id": "0090031",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090031"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02207-1",
            "uniprot_ac": "Q02207",
            "uniprot_id": "FOX2_YEAST",
            "refseq_ac": "NP_012934",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal hydratase-dehydrogenase-epimerase",
                    "type": "recommended"
                },
                {
                    "name": "HDE",
                    "type": "synonym"
                },
                {
                    "name": "MFP",
                    "type": "synonym"
                },
                {
                    "name": "Multifunctional beta-oxidation protein",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional hydroxyacyl-CoA dehydrogenase/enoyl-CoA hydratase FOX2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FOX2",
                    "type": "recommended"
                },
                {
                    "name": "FOX2",
                    "type": "synonym"
                },
                {
                    "name": "POX2",
                    "type": "synonym"
                },
                {
                    "name": "YK108",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02207-1",
            "evidence": [
                {
                    "id": "0090031",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090031"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97852-1",
            "uniprot_ac": "P97852",
            "uniprot_id": "DHB4_RAT",
            "refseq_ac": "NP_077368",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal multifunctional enzyme type 2",
                    "type": "recommended"
                },
                {
                    "name": "17-beta-HSD 4",
                    "type": "synonym"
                },
                {
                    "name": "17-beta-hydroxysteroid dehydrogenase 4",
                    "type": "synonym"
                },
                {
                    "name": "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase",
                    "type": "synonym"
                },
                {
                    "name": "D-bifunctional protein",
                    "type": "synonym"
                },
                {
                    "name": "DBP",
                    "type": "synonym"
                },
                {
                    "name": "MFE-2",
                    "type": "synonym"
                },
                {
                    "name": "MFP-2",
                    "type": "synonym"
                },
                {
                    "name": "Multifunctional protein 2",
                    "type": "synonym"
                },
                {
                    "name": "multifunctional protein 2",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal multifunctional enzyme type 2",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal multifunctional enzyme type II",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hsd17b4",
                    "type": "recommended"
                },
                {
                    "name": "Edh17b4",
                    "type": "synonym"
                },
                {
                    "name": "Hsd17b4",
                    "type": "synonym"
                },
                {
                    "name": "MFP-2",
                    "type": "synonym"
                },
                {
                    "name": "MPF-2",
                    "type": "synonym"
                }
            ],
            "record_id": "P97852-1",
            "evidence": [
                {
                    "id": "0090031",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090031"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXJ0-1",
            "uniprot_ac": "Q9VXJ0",
            "uniprot_id": "DHB4_DROME",
            "refseq_ac": "NP_001285318",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal multifunctional enzyme type 2",
                    "type": "recommended"
                },
                {
                    "name": "CG3415-PB",
                    "type": "synonym"
                },
                {
                    "name": "DmMFE-2",
                    "type": "synonym"
                },
                {
                    "name": "Mfe2-PB",
                    "type": "synonym"
                },
                {
                    "name": "multifunctional enzyme type 2",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal multifunctional enzyme type 2, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal multifunctional enzyme type 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mfe2",
                    "type": "recommended"
                },
                {
                    "name": "CG3415",
                    "type": "synonym"
                },
                {
                    "name": "DBP",
                    "type": "synonym"
                },
                {
                    "name": "DmMFE-2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3415",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3415",
                    "type": "synonym"
                },
                {
                    "name": "HSD17B4",
                    "type": "synonym"
                },
                {
                    "name": "MFE-2",
                    "type": "synonym"
                },
                {
                    "name": "MFE2",
                    "type": "synonym"
                },
                {
                    "name": "Mfe2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VXJ0-1",
            "evidence": [
                {
                    "id": "0090031",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090031"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090031"
}