{
    "disease_id": "DOID:0060649", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009019", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009019", 
            "name": "corneal endothelial dystrophy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009019", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009019", 
            "name": "corneal endothelial dystrophy 2, autosomal recessive; CHED2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009019", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009019", 
            "name": "corneal endothelial dystrophy 2, autosomal recessive"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009019", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009019", 
            "name": "CHED2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009019", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009019", 
            "name": "Maumenee corneal dystrophy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009019", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009019", 
            "name": "congenital hereditary endothelial dystrophy of the cornea"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009019", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009019", 
            "name": "corneal dystrophy, congenital hereditary endothelial"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009019", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009019", 
            "name": "congenital hereditary endothelial dystrophy type II"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009019", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009019", 
            "name": "autosomal recessive congenital hereditary endothelial dystrophy"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009019", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009019", 
            "name": "corneal endothelial dystrophy; CHED"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009019", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009019", 
            "name": "corneal endothelial dystrophy 2, autosomal recessive, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009019", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009019", 
            "name": "autosomal recessive CHED"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009019", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009019", 
            "name": "CHEDII"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009019", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009019", 
            "name": "congenital hereditary endothelial dystrophy type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009019", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009019", 
            "name": "CHED2, formerly"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009019", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009019", 
            "name": "corneal endothelial dystrophy type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009019", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009019", 
            "name": "CHED"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009019", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009019", 
            "name": "corneal endothelial dystrophy 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009019", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009019", 
            "name": "infantile hereditary endothelial dystrophy"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060649", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060649", 
            "name": "CHED"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060649", 
        "description": "A corneal endothelial dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene, which encodes a sodium borate cotransporter, on chromosome 20p13 and is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060649", 
        "name": "congenital hereditary endothelial dystrophy of cornea"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060649#disease-associations", 
            "id": "0060649", 
            "database": "Alliance of Genome Resources"
        }
    ]
}