{
    "disease_id": "DOID:0060747",
    "recommended_name": {
        "id": "DOID:0060747",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060747",
        "name": "Duane-radial ray syndrome",
        "description": "A syndrome characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13."
    },
    "synonyms": [
        {
            "id": "DOID:0060747",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060747",
            "name": "DR syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060747",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060747",
            "name": "Okihiro syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060747",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060747",
            "name": "acrorenocular syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060747",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060747",
            "name": "Duane anomaly with radial ray abnormalities and deafness",
            "description": ""
        },
        {
            "id": "MONDO:0011812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011812",
            "name": "Duane-radial ray syndrome",
            "description": "A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disk coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant."
        },
        {
            "id": "MONDO:0011812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011812",
            "name": "DR syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011812",
            "name": "DRRS",
            "description": ""
        },
        {
            "id": "MONDO:0011812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011812",
            "name": "Duane anomaly with radial ray abnormalities and deafness",
            "description": ""
        },
        {
            "id": "MONDO:0011812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011812",
            "name": "Duane-radial ray syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011812",
            "name": "Okihiro syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011812",
            "name": "acro-renal-ocular syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011812",
            "name": "Duane anomaly with radial abnormalities and deafness",
            "description": ""
        },
        {
            "id": "MIM:607323",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607323",
            "name": "Duane-radial ray syndrome",
            "description": "Duane-radial ray syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060747"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060747",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060747",
            "categories": []
        },
        {
            "id": "MONDO:0011812",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011812",
            "categories": []
        },
        {
            "id": "MIM:607323",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607323",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8BX22-1",
            "uniprot_ac": "Q8BX22",
            "uniprot_id": "SALL4_MOUSE",
            "refseq_ac": "NP_780512",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sal-like protein 4",
                    "type": "recommended"
                },
                {
                    "name": "Zinc finger protein SALL4",
                    "type": "synonym"
                },
                {
                    "name": "sal-like 4",
                    "type": "synonym"
                },
                {
                    "name": "sal-like protein 4 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "sal-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein SALL4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sall4",
                    "type": "recommended"
                },
                {
                    "name": "5730441M18Rik",
                    "type": "synonym"
                },
                {
                    "name": "C330011P20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Sall4",
                    "type": "synonym"
                },
                {
                    "name": "Tex20",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BX22-1",
            "evidence": [
                {
                    "id": "0060747",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060747"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UJQ4-1",
            "uniprot_ac": "Q9UJQ4",
            "uniprot_id": "SALL4_HUMAN",
            "refseq_ac": "NP_001304960",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sal-like protein 4",
                    "type": "recommended"
                },
                {
                    "name": "Zinc finger protein 797",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein SALL4",
                    "type": "synonym"
                },
                {
                    "name": "sal-like protein 4 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "sal-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 797",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein SALL4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SALL4",
                    "type": "recommended"
                },
                {
                    "name": "DRRS",
                    "type": "synonym"
                },
                {
                    "name": "HSAL4",
                    "type": "synonym"
                },
                {
                    "name": "IVIC",
                    "type": "synonym"
                },
                {
                    "name": "SALL4",
                    "type": "synonym"
                },
                {
                    "name": "ZNF797",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UJQ4-1",
            "evidence": [
                {
                    "id": "607323",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607323"
                },
                {
                    "id": "0060747",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060747"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0RDM1-1",
            "uniprot_ac": "M0RDM1",
            "uniprot_id": "M0RDM1_RAT",
            "refseq_ac": "NP_001414424",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sal-like protein 4",
                    "type": "recommended"
                },
                {
                    "name": "Zinc finger protein SALL4",
                    "type": "synonym"
                },
                {
                    "name": "sal-like 4",
                    "type": "synonym"
                },
                {
                    "name": "sal-like protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sall4",
                    "type": "recommended"
                },
                {
                    "name": "LOC686412",
                    "type": "synonym"
                },
                {
                    "name": "Sall4",
                    "type": "synonym"
                }
            ],
            "record_id": "M0RDM1-1",
            "evidence": [
                {
                    "id": "0060747",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060747"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39770-1",
            "uniprot_ac": "P39770",
            "uniprot_id": "SALM_DROME",
            "refseq_ac": "NP_723670",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeotic protein spalt-major",
                    "type": "recommended"
                },
                {
                    "name": "CG6464-PA",
                    "type": "synonym"
                },
                {
                    "name": "Spalt-M",
                    "type": "synonym"
                },
                {
                    "name": "sal major",
                    "type": "synonym"
                },
                {
                    "name": "salm-PA",
                    "type": "synonym"
                },
                {
                    "name": "spalt M",
                    "type": "synonym"
                },
                {
                    "name": "spalt major, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "spalt major",
                    "type": "synonym"
                },
                {
                    "name": "spalt majr",
                    "type": "synonym"
                },
                {
                    "name": "spalt-major",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "salm",
                    "type": "recommended"
                },
                {
                    "name": "3602",
                    "type": "synonym"
                },
                {
                    "name": "B1164",
                    "type": "synonym"
                },
                {
                    "name": "CG6464",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6464",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6464",
                    "type": "synonym"
                },
                {
                    "name": "SALM",
                    "type": "synonym"
                },
                {
                    "name": "SAL[M]",
                    "type": "synonym"
                },
                {
                    "name": "SAL",
                    "type": "synonym"
                },
                {
                    "name": "SPALT",
                    "type": "synonym"
                },
                {
                    "name": "SalM",
                    "type": "synonym"
                },
                {
                    "name": "Salm",
                    "type": "synonym"
                },
                {
                    "name": "Sal",
                    "type": "synonym"
                },
                {
                    "name": "Spalt",
                    "type": "synonym"
                },
                {
                    "name": "l(2)03602",
                    "type": "synonym"
                },
                {
                    "name": "salII",
                    "type": "synonym"
                },
                {
                    "name": "salM",
                    "type": "synonym"
                },
                {
                    "name": "salm",
                    "type": "synonym"
                },
                {
                    "name": "sal",
                    "type": "synonym"
                },
                {
                    "name": "slam",
                    "type": "synonym"
                },
                {
                    "name": "spalt",
                    "type": "synonym"
                }
            ],
            "record_id": "P39770-1",
            "evidence": [
                {
                    "id": "0060747",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060747"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VKH3-1",
            "uniprot_ac": "Q9VKH3",
            "uniprot_id": "Q9VKH3_DROME",
            "refseq_ac": "NP_001245983",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG4881-PC",
                    "type": "synonym"
                },
                {
                    "name": "Spalt-related, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Spalt-related, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Spalt-related, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Spalt-related",
                    "type": "synonym"
                },
                {
                    "name": "chorion factor 3",
                    "type": "synonym"
                },
                {
                    "name": "sal related",
                    "type": "synonym"
                },
                {
                    "name": "sal-related",
                    "type": "synonym"
                },
                {
                    "name": "salr-PC",
                    "type": "synonym"
                },
                {
                    "name": "spalt related",
                    "type": "synonym"
                },
                {
                    "name": "spalt-related, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "salr",
                    "type": "recommended"
                },
                {
                    "name": "32F",
                    "type": "synonym"
                },
                {
                    "name": "CG4881",
                    "type": "synonym"
                },
                {
                    "name": "Cf3",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4881",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4881",
                    "type": "synonym"
                },
                {
                    "name": "Sal-r",
                    "type": "synonym"
                },
                {
                    "name": "Salr",
                    "type": "synonym"
                },
                {
                    "name": "Sal",
                    "type": "synonym"
                },
                {
                    "name": "Spalt",
                    "type": "synonym"
                },
                {
                    "name": "sal-r",
                    "type": "synonym"
                },
                {
                    "name": "salR",
                    "type": "synonym"
                },
                {
                    "name": "salr",
                    "type": "synonym"
                },
                {
                    "name": "sal",
                    "type": "synonym"
                },
                {
                    "name": "spalt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VKH3-1",
            "evidence": [
                {
                    "id": "0060747",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060747"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060747"
}