{
    "disease_id": "DOID:0111549",
    "recommended_name": {
        "id": "DOID:0111549",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111549",
        "name": "aplasia of lacrimal and salivary glands",
        "description": "A syndrome characterized by irritable eyes, epiphora, xerostomia, variable aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands, and absence of the lacrimal puncta that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12."
    },
    "synonyms": [
        {
            "id": "DOID:0111549",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111549",
            "name": "congenital absence of lacrimal puncta and salivary glands",
            "description": ""
        },
        {
            "id": "DOID:0111549",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111549",
            "name": "ALSG",
            "description": ""
        },
        {
            "id": "MONDO:0008397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008397",
            "name": "aplasia of lacrimal and salivary glands",
            "description": "Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation."
        },
        {
            "id": "MONDO:0008397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008397",
            "name": "ALSG",
            "description": ""
        },
        {
            "id": "MONDO:0008397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008397",
            "name": "aplasia of lacrimal and salivary glands",
            "description": ""
        },
        {
            "id": "MONDO:0008397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008397",
            "name": "congenital absence of lacrimal puncta and salivary glands",
            "description": ""
        },
        {
            "id": "MONDO:0008397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008397",
            "name": "parotid aplasia or hypoplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008397",
            "name": "salivary glands, absence of",
            "description": ""
        },
        {
            "id": "MONDO:0008397",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008397",
            "name": "salivary glands, absence of, include",
            "description": ""
        },
        {
            "id": "MIM:180920",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/180920",
            "name": "Aplasia of lacrimal and salivary glands",
            "description": "Aplasia of lacrimal and salivary glands"
        }
    ]
}