{
    "disease_id": "DOID:0080559", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011783", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011783", 
            "name": "ALG12-CDG"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011783", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011783", 
            "name": "CDG syndrome type Ig"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011783", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011783", 
            "name": "congenital disorder of glycosylation type Ig"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011783", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011783", 
            "name": "CDG1G"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011783", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011783", 
            "name": "CDGIg"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011783", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011783", 
            "name": "CDG 1G"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011783", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011783", 
            "name": "CDG Ig"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011783", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011783", 
            "name": "congenital disorder of glycosylation type 1g"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011783", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011783", 
            "name": "CDG-Ig"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011783", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011783", 
            "name": "carbohydrate deficient glycoprotein syndrome type Ig"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011783", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011783", 
            "name": "mannosyltransferase 8 deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011783", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011783", 
            "name": "ALG12-congenital disorder of glycosylation"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011783", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011783", 
            "name": "congenital disorder of glycosylation, type Ig; CDG1G"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011783", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011783", 
            "name": "congenital disorder of glycosylation, type Ig"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011783", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011783", 
            "name": "ALG12-CDG (CDG-Ig)"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080559", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080559", 
            "name": "ALG12-congenital disorder of glycosylation"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0080559", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0080559", 
            "name": "congenital disorder of glycosylation 1g"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080559", 
        "description": "A congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080559", 
        "name": "congenital disorder of glycosylation Ig"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080559#disease-associations", 
            "id": "0080559", 
            "database": "Alliance of Genome Resources"
        }
    ]
}