{
    "disease_id": "DOID:0111821", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010624", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010624", 
            "name": "ichthyosis follicularis-alopecia-photophobia syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010624", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010624", 
            "name": "ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, Ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010624", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010624", 
            "name": "IFAP syndrome with or without BRESHECK syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010624", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010624", 
            "name": "ichthyosis follicularis atrichia photophobia syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010624", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010624", 
            "name": "IFAP syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010624", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010624", 
            "name": "ichthyosis follicularis-atrichia-photophobia syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111821", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111821", 
            "name": "IFAP syndrome 1"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111821", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111821", 
            "name": "IFAP syndrome 1 with or without BRESHECK syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111821", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111821", 
            "name": "ichthyosis follicularis-atrichia-photophobia syndrome 1"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111821", 
        "description": "A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in MBTPS2 on chromosome Xp22.12.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111821", 
        "name": "ichthyosis follicularis-alopecia-photophobia syndrome 1"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111821#disease-associations", 
            "id": "0111821", 
            "database": "Alliance of Genome Resources"
        }
    ]
}