{
    "disease_id": "DOID:0110066",
    "recommended_name": {
        "id": "DOID:0110066",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110066",
        "name": "amelogenesis imperfecta type 1G",
        "description": "An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24."
    },
    "synonyms": [
        {
            "id": "DOID:0110066",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110066",
            "name": "amelogenesis imperfecta and gingival fibromatosis syndrome",
            "description": ""
        },
        {
            "id": "DOID:0110066",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110066",
            "name": "amelogenesis imperfecta hypoplastic with nephrocalcinosis",
            "description": ""
        },
        {
            "id": "DOID:0110066",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110066",
            "name": "AI1G",
            "description": ""
        },
        {
            "id": "DOID:0110066",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110066",
            "name": "AIGFS",
            "description": ""
        },
        {
            "id": "DOID:0110066",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110066",
            "name": "ERS",
            "description": ""
        },
        {
            "id": "DOID:0110066",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110066",
            "name": "amelogenesis imperfecta type IG",
            "description": ""
        },
        {
            "id": "DOID:0110066",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110066",
            "name": "enamel-renal syndrome",
            "description": ""
        },
        {
            "id": "DOID:0110066",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110066",
            "name": "enamel-renal-gingival syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "amelogenesis imperfecta type 1G",
            "description": "An extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure."
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "AI1G",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "AIGFS",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "ERS",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "FAM20A amelogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "amelogenesis imperfecta and gingival fibromatosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "amelogenesis imperfecta caused by mutation in FAM20A",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "amelogenesis imperfecta, type IG (enamel-renal syndrome)",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "amelogenesis imperfecta-gingival hyperplasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "enamel-renal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "enamel-renal-gingival syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "ers",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "absent enamel, nephrocalcinosis and apparently normal calcium metabolism",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "amelogenesis imperfecta and nephrocalcinosis",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "amelogenesis imperfecta hypoplastic type, IG",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "amelogenesis imperfecta nephrocalcinosis",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "amelogenesis imperfecta, type IG",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "enamel renal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "generalised enamel hypoplasia and renal dysfunction",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "generalized enamel hypoplasia and renal dysfunction",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "amelogenesis imperfecta type 1G",
            "description": "An extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure."
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "AI1G",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "AIGFS",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "ERS",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "FAM20A amelogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "amelogenesis imperfecta and gingival fibromatosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "amelogenesis imperfecta caused by mutation in FAM20A",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "amelogenesis imperfecta, type IG (enamel-renal syndrome)",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "amelogenesis imperfecta-gingival hyperplasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "enamel-renal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "enamel-renal-gingival syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "ers",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "absent enamel, nephrocalcinosis and apparently normal calcium metabolism",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "amelogenesis imperfecta and nephrocalcinosis",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "amelogenesis imperfecta hypoplastic type, IG",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "amelogenesis imperfecta nephrocalcinosis",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "amelogenesis imperfecta, type IG",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "enamel renal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "generalised enamel hypoplasia and renal dysfunction",
            "description": ""
        },
        {
            "id": "MONDO:0008771",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008771",
            "name": "generalized enamel hypoplasia and renal dysfunction",
            "description": ""
        },
        {
            "id": "MIM:204690",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/204690",
            "name": "Amelogenesis imperfecta 1G",
            "description": "Amelogenesis imperfecta 1G"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110066"
    ],
    "unlinked_id_list": []
}