{
    "disease_id": "DOID:0070263",
    "recommended_name": {
        "id": "DOID:0070263",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070263",
        "name": "congenital disorder of glycosylation type IIk",
        "description": "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of TMEM165 on chromosome 4q12."
    },
    "synonyms": [
        {
            "id": "DOID:0070263",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070263",
            "name": "CDG IIk",
            "description": ""
        },
        {
            "id": "DOID:0070263",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070263",
            "name": "CDG syndrome type IIk",
            "description": ""
        },
        {
            "id": "DOID:0070263",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070263",
            "name": "CDG2K",
            "description": ""
        },
        {
            "id": "DOID:0070263",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070263",
            "name": "CDGIIdk",
            "description": ""
        },
        {
            "id": "DOID:0070263",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070263",
            "name": "Congenital disorder of glycosylation type 2k",
            "description": ""
        },
        {
            "id": "DOID:0070263",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070263",
            "name": "Carbohydrate deficient glycoprotein syndrome type IIk",
            "description": ""
        },
        {
            "id": "DOID:0070263",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070263",
            "name": "TMEM165-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0013870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013870",
            "name": "TMEM165-congenital disorder of glycosylation",
            "description": "TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12)."
        },
        {
            "id": "MONDO:0013870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013870",
            "name": "CDG syndrome type IIk",
            "description": ""
        },
        {
            "id": "MONDO:0013870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013870",
            "name": "CDG-IIk",
            "description": ""
        },
        {
            "id": "MONDO:0013870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013870",
            "name": "CDG2K",
            "description": ""
        },
        {
            "id": "MONDO:0013870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013870",
            "name": "TMEM165-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0013870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013870",
            "name": "TMEM165-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0013870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013870",
            "name": "carbohydrate deficient glycoprotein syndrome type IIk",
            "description": ""
        },
        {
            "id": "MONDO:0013870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013870",
            "name": "congenital disorder of glycosylation type 2k",
            "description": ""
        },
        {
            "id": "MONDO:0013870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013870",
            "name": "congenital disorder of glycosylation type IIk",
            "description": ""
        },
        {
            "id": "MONDO:0013870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013870",
            "name": "CDG IIk",
            "description": ""
        },
        {
            "id": "MONDO:0013870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013870",
            "name": "TMEM165-CDG (CDG-IIk)",
            "description": ""
        },
        {
            "id": "MONDO:0013870",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013870",
            "name": "congenital disorder of glycosylation, type IIk",
            "description": ""
        },
        {
            "id": "MIM:614727",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614727",
            "name": "Congenital disorder of glycosylation 2K",
            "description": "Congenital disorder of glycosylation 2K"
        }
    ]
}