{
    "disease_id": "DOID:0080759",
    "recommended_name": {
        "id": "DOID:0080759",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080759",
        "name": "Fanconi renotubular syndrome 3",
        "description": "A Fanconi syndrome that is characterized by characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria and that has_material_basis_in heterozygous mutation in the EHHADH gene on chromosome 3q27."
    },
    "synonyms": [
        {
            "id": "MONDO:0014275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014275",
            "name": "Fanconi renotubular syndrome 3",
            "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene."
        },
        {
            "id": "MONDO:0014275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014275",
            "name": "EHHADH Fanconi syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014275",
            "name": "Fanconi renotubular syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0014275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014275",
            "name": "Fanconi renotubular syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0014275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014275",
            "name": "Fanconi syndrome caused by mutation in EHHADH",
            "description": ""
        },
        {
            "id": "MONDO:0014275",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014275",
            "name": "FRTS3",
            "description": ""
        },
        {
            "id": "MIM:615605",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615605",
            "name": "Fanconi renotubular syndrome 3",
            "description": "Fanconi renotubular syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080759"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080759",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080759",
            "categories": []
        },
        {
            "id": "MONDO:0014275",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014275",
            "categories": []
        },
        {
            "id": "MIM:615605",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615605",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6NYL3-1",
            "uniprot_ac": "Q6NYL3",
            "uniprot_id": "ECHP_DANRE",
            "refseq_ac": "NP_996951",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal bifunctional enzyme",
                    "type": "recommended"
                },
                {
                    "name": "DKEYP-30D5.2",
                    "type": "synonym"
                },
                {
                    "name": "MFE1",
                    "type": "synonym"
                },
                {
                    "name": "Multifunctional enzyme 1",
                    "type": "synonym"
                },
                {
                    "name": "PBE",
                    "type": "synonym"
                },
                {
                    "name": "PBFE",
                    "type": "synonym"
                },
                {
                    "name": "enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "l-pbe",
                    "type": "synonym"
                },
                {
                    "name": "multifunctional enzyme 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal bifunctional enzyme",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ehhadh",
                    "type": "recommended"
                },
                {
                    "name": "MFE1",
                    "type": "synonym"
                },
                {
                    "name": "echd",
                    "type": "synonym"
                },
                {
                    "name": "ehhadh",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-30d5.2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:77526",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NYL3-1",
            "evidence": [
                {
                    "id": "0080759",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080759"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DBM2-1",
            "uniprot_ac": "Q9DBM2",
            "uniprot_id": "ECHP_MOUSE",
            "refseq_ac": "NP_076226",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal bifunctional enzyme",
                    "type": "recommended"
                },
                {
                    "name": "L-PBE",
                    "type": "synonym"
                },
                {
                    "name": "L-bifunctional enzyme",
                    "type": "synonym"
                },
                {
                    "name": "L-peroxisomal bifunctional enzyme",
                    "type": "synonym"
                },
                {
                    "name": "L-specific multifunctional beta-oxdiation protein",
                    "type": "synonym"
                },
                {
                    "name": "MFE1",
                    "type": "synonym"
                },
                {
                    "name": "MFP-1",
                    "type": "synonym"
                },
                {
                    "name": "Multifunctional enzyme 1",
                    "type": "synonym"
                },
                {
                    "name": "Multifunctional protein 1",
                    "type": "synonym"
                },
                {
                    "name": "PBE",
                    "type": "synonym"
                },
                {
                    "name": "PBFE",
                    "type": "synonym"
                },
                {
                    "name": "multifunctional enzyme 1",
                    "type": "synonym"
                },
                {
                    "name": "multifunctional protein 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal bifunctional enzyme",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ehhadh",
                    "type": "recommended"
                },
                {
                    "name": "1300002P22Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ehhadh",
                    "type": "synonym"
                },
                {
                    "name": "HD",
                    "type": "synonym"
                },
                {
                    "name": "L-PBE",
                    "type": "synonym"
                },
                {
                    "name": "L-pbe",
                    "type": "synonym"
                },
                {
                    "name": "LBFP",
                    "type": "synonym"
                },
                {
                    "name": "LBP",
                    "type": "synonym"
                },
                {
                    "name": "MFE1",
                    "type": "synonym"
                },
                {
                    "name": "MFP-1",
                    "type": "synonym"
                },
                {
                    "name": "MFP1",
                    "type": "synonym"
                },
                {
                    "name": "MFP",
                    "type": "synonym"
                },
                {
                    "name": "PBFE",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DBM2-1",
            "evidence": [
                {
                    "id": "0080759",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080759"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08426-1",
            "uniprot_ac": "Q08426",
            "uniprot_id": "ECHP_HUMAN",
            "refseq_ac": "NP_001159887",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal bifunctional enzyme",
                    "type": "recommended"
                },
                {
                    "name": "3,2-trans-enoyl-CoA isomerase",
                    "type": "synonym"
                },
                {
                    "name": "L-3-hydroxyacyl-CoA dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "L-bifunctional protein, peroxisomal",
                    "type": "synonym"
                },
                {
                    "name": "L-bifunctional protein",
                    "type": "synonym"
                },
                {
                    "name": "LBP",
                    "type": "synonym"
                },
                {
                    "name": "MFE1",
                    "type": "synonym"
                },
                {
                    "name": "Multifunctional enzyme 1",
                    "type": "synonym"
                },
                {
                    "name": "PBE",
                    "type": "synonym"
                },
                {
                    "name": "PBFE",
                    "type": "synonym"
                },
                {
                    "name": "enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "multifunctional enzyme 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal bifunctional enzyme isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal bifunctional enzyme",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal enoyl-CoA hydratase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EHHADH",
                    "type": "recommended"
                },
                {
                    "name": "ECHD",
                    "type": "synonym"
                },
                {
                    "name": "EHHADH",
                    "type": "synonym"
                },
                {
                    "name": "FRTS3",
                    "type": "synonym"
                },
                {
                    "name": "L-PBE",
                    "type": "synonym"
                },
                {
                    "name": "LBFP",
                    "type": "synonym"
                },
                {
                    "name": "MFE1",
                    "type": "synonym"
                },
                {
                    "name": "PBFE",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08426-1",
            "evidence": [
                {
                    "id": "615605",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615605"
                },
                {
                    "id": "0080759",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080759"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07896-1",
            "uniprot_ac": "P07896",
            "uniprot_id": "ECHP_RAT",
            "refseq_ac": "NP_598290",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peroxisomal bifunctional enzyme",
                    "type": "recommended"
                },
                {
                    "name": "L-specific bifunctional protein",
                    "type": "synonym"
                },
                {
                    "name": "MFE1",
                    "type": "synonym"
                },
                {
                    "name": "MFP1",
                    "type": "synonym"
                },
                {
                    "name": "Multifunctional enzyme 1",
                    "type": "synonym"
                },
                {
                    "name": "Multifunctional protein 1",
                    "type": "synonym"
                },
                {
                    "name": "PBE",
                    "type": "synonym"
                },
                {
                    "name": "PBFE",
                    "type": "synonym"
                },
                {
                    "name": "enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "multifunctional enzyme 1",
                    "type": "synonym"
                },
                {
                    "name": "multifunctional enzyme type 1",
                    "type": "synonym"
                },
                {
                    "name": "multifunctional protein 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal bifunctional enzyme type 1",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal bifunctional enzyme",
                    "type": "synonym"
                },
                {
                    "name": "peroxisomal enoyl-CoA/hydrotase-3-hydroxyacyl-CoA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ehhadh",
                    "type": "recommended"
                },
                {
                    "name": "Ehhadh",
                    "type": "synonym"
                },
                {
                    "name": "Lbp",
                    "type": "synonym"
                },
                {
                    "name": "MEF",
                    "type": "synonym"
                },
                {
                    "name": "MFP1",
                    "type": "synonym"
                },
                {
                    "name": "Mfe1",
                    "type": "synonym"
                },
                {
                    "name": "Mfe",
                    "type": "synonym"
                },
                {
                    "name": "Pbe",
                    "type": "synonym"
                },
                {
                    "name": "Pbfe",
                    "type": "synonym"
                },
                {
                    "name": "pe-CoA",
                    "type": "synonym"
                },
                {
                    "name": "perMFE-1",
                    "type": "synonym"
                }
            ],
            "record_id": "P07896-1",
            "evidence": [
                {
                    "id": "0080759",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080759"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z0W5-1",
            "uniprot_ac": "Q9Z0W5",
            "uniprot_id": "PACN1_RAT",
            "refseq_ac": "NP_058990",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein kinase C and casein kinase substrate in neurons protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Dynamin PRD-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "Dynamin proline-rich domain-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "SdpI",
                    "type": "synonym"
                },
                {
                    "name": "Synaptic, dynamin-associated protein I",
                    "type": "synonym"
                },
                {
                    "name": "Syndapin-1",
                    "type": "synonym"
                },
                {
                    "name": "Syndapin-I",
                    "type": "synonym"
                },
                {
                    "name": "dynamin PRD-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "dynamin proline-rich domain-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C and casein kinase substrate in neurons protein 1",
                    "type": "synonym"
                },
                {
                    "name": "sdpI",
                    "type": "synonym"
                },
                {
                    "name": "synaptic dynamin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "synaptic, dynamin-associated protein I",
                    "type": "synonym"
                },
                {
                    "name": "syndapin-1",
                    "type": "synonym"
                },
                {
                    "name": "syndapin-I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pacsin1",
                    "type": "recommended"
                },
                {
                    "name": "Pacsin1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z0W5-1",
            "evidence": [
                {
                    "id": "0080759",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080759"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080759"
}