{
    "disease_id": "DOID:0080568",
    "recommended_name": {
        "id": "DOID:0080568",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080568",
        "name": "congenital disorder of glycosylation Iq",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0080568",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080568",
            "name": "congenital disorder of glycosylation 1q",
            "description": ""
        },
        {
            "id": "MONDO:0012885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012885",
            "name": "SRD5A3-congenital disorder of glycosylation",
            "description": "A rare, non X-linked congenital disorder of gyclosylation due to steroid 5 alpha reductase type 3 deficiency 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. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation."
        },
        {
            "id": "MONDO:0012885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012885",
            "name": "CDG syndrome type Iq",
            "description": ""
        },
        {
            "id": "MONDO:0012885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012885",
            "name": "CDG-Iq",
            "description": ""
        },
        {
            "id": "MONDO:0012885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012885",
            "name": "CDG1Q",
            "description": ""
        },
        {
            "id": "MONDO:0012885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012885",
            "name": "SRD5A3-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0012885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012885",
            "name": "SRD5A3-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0012885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012885",
            "name": "congenital disorder of glycosylation type 1q",
            "description": ""
        },
        {
            "id": "MONDO:0012885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012885",
            "name": "congenital disorder of glycosylation type Iq",
            "description": ""
        },
        {
            "id": "MONDO:0012885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012885",
            "name": "CDGIq",
            "description": ""
        },
        {
            "id": "MONDO:0012885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012885",
            "name": "SRD5A3-CDG (CDG-Iq)",
            "description": ""
        },
        {
            "id": "MONDO:0012885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012885",
            "name": "congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012885",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012885",
            "name": "congenital disorder of glycosylation, type Iq",
            "description": ""
        },
        {
            "id": "MIM:612379",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612379",
            "name": "Congenital disorder of glycosylation 1Q",
            "description": "Congenital disorder of glycosylation 1Q"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080568"
    ],
    "unlinked_id_list": []
}