{
    "disease_id": "DOID:0080568", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012885", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012885", 
            "name": "SRD5A3-CDG"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012885", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012885", 
            "name": "CDG1Q"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012885", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012885", 
            "name": "coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012885", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012885", 
            "name": "CDGIq"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012885", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012885", 
            "name": "congenital disorder of glycosylation type 1q"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012885", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012885", 
            "name": "CDG Iq"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012885", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012885", 
            "name": "congenital disorder of glycosylation, type Iq; CDG1Q"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012885", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012885", 
            "name": "congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012885", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012885", 
            "name": "CDG-Iq"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012885", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012885", 
            "name": "CDG syndrome type Iq"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012885", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012885", 
            "name": "SRD5A3-CDG (CDG-Iq)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012885", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012885", 
            "name": "congenital disorder of glycosylation type Iq"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012885", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012885", 
            "name": "congenital disorder of glycosylation, type Iq"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080568", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080568", 
            "name": "congenital disorder of glycosylation 1q"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080568", 
        "description": "A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has_material_basis_in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080568", 
        "name": "congenital disorder of glycosylation Iq"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080568#disease-associations", 
            "id": "0080568", 
            "database": "Alliance of Genome Resources"
        }
    ]
}