{
    "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": []
}