{
    "disease_id": "DOID:0111259",
    "recommended_name": {
        "id": "DOID:0111259",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111259",
        "name": "postaxial acrofacial dysostosis",
        "description": "A syndrome characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, cup-shaped ears, and supernumerary nipples that has_material_basis_in homozygous or compound heterozygous mutation in DHODH on 16q22.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111259",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111259",
            "name": "Miller syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111259",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111259",
            "name": "POADS",
            "description": ""
        },
        {
            "id": "DOID:0111259",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111259",
            "name": "Postaxial acrodysostosis",
            "description": ""
        },
        {
            "id": "DOID:0111259",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111259",
            "name": "acrofacial dysostosis, Genee-Wiedmann type",
            "description": ""
        },
        {
            "id": "DOID:0111259",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111259",
            "name": "mandibulfacial dysostosis with postaxial limb anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0009903",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009903",
            "name": "postaxial acrofacial dysostosis",
            "description": "Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia."
        },
        {
            "id": "MONDO:0009903",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009903",
            "name": "Miller Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009903",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009903",
            "name": "Miller syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009903",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009903",
            "name": "POADS",
            "description": ""
        },
        {
            "id": "MONDO:0009903",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009903",
            "name": "postaxial acrodysostosis",
            "description": ""
        },
        {
            "id": "MONDO:0009903",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009903",
            "name": "postaxial acrofacial dysostosis",
            "description": ""
        },
        {
            "id": "MONDO:0009903",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009903",
            "name": "GWAFD",
            "description": ""
        },
        {
            "id": "MONDO:0009903",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009903",
            "name": "Genee-Wiedemann acrofacial dysostosis",
            "description": ""
        },
        {
            "id": "MONDO:0009903",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009903",
            "name": "POADS syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009903",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009903",
            "name": "Wildervanck-Smith syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009903",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009903",
            "name": "postaxial acrofacial dysostosis (POADS) syndrome",
            "description": ""
        },
        {
            "id": "MIM:263750",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/263750",
            "name": "Postaxial acrofacial dysostosis",
            "description": "Postaxial acrofacial dysostosis"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111259"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111259",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111259",
            "categories": []
        },
        {
            "id": "MONDO:0009903",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009903",
            "categories": []
        },
        {
            "id": "MIM:263750",
            "database": "MIM",
            "url": "https://www.omim.org/entry/263750",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "O35435-1",
            "uniprot_ac": "O35435",
            "uniprot_id": "PYRD_MOUSE",
            "refseq_ac": "NP_064430",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dihydroorotate dehydrogenase (quinone), mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.3.5.2",
                    "type": "synonym"
                },
                {
                    "name": "DHOdehase",
                    "type": "synonym"
                },
                {
                    "name": "Dihydroorotate oxidase",
                    "type": "synonym"
                },
                {
                    "name": "dihydroorotate dehydrogenase (quinone), mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "dihydroorotate dehydrogenase (quinone), mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "dihydroorotate dehydrogenase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "dihydroorotate oxidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dhodh",
                    "type": "recommended"
                },
                {
                    "name": "2810417D19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dhodh",
                    "type": "synonym"
                }
            ],
            "record_id": "O35435-1",
            "evidence": [
                {
                    "id": "0111259",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111259"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02127-1",
            "uniprot_ac": "Q02127",
            "uniprot_id": "PYRD_HUMAN",
            "refseq_ac": "NP_001352",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dihydroorotate dehydrogenase (quinone), mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.3.5.2",
                    "type": "synonym"
                },
                {
                    "name": "DHOdehase",
                    "type": "synonym"
                },
                {
                    "name": "Dihydroorotate oxidase",
                    "type": "synonym"
                },
                {
                    "name": "dihydroorotate dehydrogenase (quinone), mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "dihydroorotate oxidase",
                    "type": "synonym"
                },
                {
                    "name": "human complement of yeast URA1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DHODH",
                    "type": "recommended"
                },
                {
                    "name": "DHODH",
                    "type": "synonym"
                },
                {
                    "name": "DHOdehase",
                    "type": "synonym"
                },
                {
                    "name": "POADS",
                    "type": "synonym"
                },
                {
                    "name": "URA1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02127-1",
            "evidence": [
                {
                    "id": "263750",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/263750"
                },
                {
                    "id": "0111259",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111259"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28272-1",
            "uniprot_ac": "P28272",
            "uniprot_id": "PYRD_YEAST",
            "refseq_ac": "NP_012706",
            "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": "Dihydroorotate dehydrogenase (fumarate)",
                    "type": "recommended"
                },
                {
                    "name": "1.3.98.1",
                    "type": "synonym"
                },
                {
                    "name": "DHODase",
                    "type": "synonym"
                },
                {
                    "name": "DHOD",
                    "type": "synonym"
                },
                {
                    "name": "DHOdehase",
                    "type": "synonym"
                },
                {
                    "name": "Dihydroorotate oxidase",
                    "type": "synonym"
                },
                {
                    "name": "dihydroorotate dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "URA1",
                    "type": "recommended"
                },
                {
                    "name": "URA1",
                    "type": "synonym"
                }
            ],
            "record_id": "P28272-1",
            "evidence": [
                {
                    "id": "0111259",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111259"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63707-1",
            "uniprot_ac": "Q63707",
            "uniprot_id": "PYRD_RAT",
            "refseq_ac": "NP_001008553",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dihydroorotate dehydrogenase (quinone), mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.3.5.2",
                    "type": "synonym"
                },
                {
                    "name": "DHOdehase",
                    "type": "synonym"
                },
                {
                    "name": "Dihydroorotate oxidase",
                    "type": "synonym"
                },
                {
                    "name": "dihydroorotate dehydrogenase (quinone), mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "dihydroorotate dehydrogenase (quinone), mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "dihydroorotate dehydrogenase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "dihydroorotate oxidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dhodh",
                    "type": "recommended"
                },
                {
                    "name": "Dhodh",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63707-1",
            "evidence": [
                {
                    "id": "0111259",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111259"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20695-1",
            "uniprot_ac": "P20695",
            "uniprot_id": "IFRD1_RAT",
            "refseq_ac": "NP_062115",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interferon-related developmental regulator 1",
                    "type": "recommended"
                },
                {
                    "name": "IRPR",
                    "type": "synonym"
                },
                {
                    "name": "Nerve growth factor-inducible protein PC4",
                    "type": "synonym"
                },
                {
                    "name": "interferon-related developmental regulator 1",
                    "type": "synonym"
                },
                {
                    "name": "nerve growth factor-inducible protein PC4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ifrd1",
                    "type": "recommended"
                },
                {
                    "name": "Ifrd1",
                    "type": "synonym"
                },
                {
                    "name": "Pc4",
                    "type": "synonym"
                }
            ],
            "record_id": "P20695-1",
            "evidence": [
                {
                    "id": "0111259",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111259"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32748-1",
            "uniprot_ac": "P32748",
            "uniprot_id": "PYRD_DROME",
            "refseq_ac": "NP_477224",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dihydroorotate dehydrogenase (quinone), mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.3.5.2",
                    "type": "synonym"
                },
                {
                    "name": "CG9741-PA",
                    "type": "synonym"
                },
                {
                    "name": "DHOdehase",
                    "type": "synonym"
                },
                {
                    "name": "Dhod-PA",
                    "type": "synonym"
                },
                {
                    "name": "Dihydroorotate oxidase",
                    "type": "synonym"
                },
                {
                    "name": "dihydroorotate dehydrogenase, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "dihydroorotate dehydrogenase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dhod",
                    "type": "recommended"
                },
                {
                    "name": "CG9741",
                    "type": "synonym"
                },
                {
                    "name": "DHODH",
                    "type": "synonym"
                },
                {
                    "name": "DHOD",
                    "type": "synonym"
                },
                {
                    "name": "Dhod",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9741",
                    "type": "synonym"
                },
                {
                    "name": "dhod",
                    "type": "synonym"
                },
                {
                    "name": "l(3)s3512",
                    "type": "synonym"
                }
            ],
            "record_id": "P32748-1",
            "evidence": [
                {
                    "id": "0111259",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111259"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111259"
}