{
    "disease_id": "DOID:0111834", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010523", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010523", 
            "name": "pigmentary disorder, reticulate, with systemic manifestations; PDR"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010523", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010523", 
            "name": "amyloidosis, familial cutaneous"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010523", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010523", 
            "name": "pigmentary disorder, reticulate, with systemic manifestations"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010523", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010523", 
            "name": "XLPDR"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010523", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010523", 
            "name": "pigmentary disorder, reticulate, with systemic manifestations, X-linked; PDR"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010523", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010523", 
            "name": "PDR"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010523", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010523", 
            "name": "pigmentary disorder, reticulate, with systemic manifestations, X-linked"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010523", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010523", 
            "name": "Partington disease"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010523", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010523", 
            "name": "familial cutaneous amyloidosis"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010523", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010523", 
            "name": "X-linked cutaneous amyloidosis"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111834", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111834", 
            "name": "PDR"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111834", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111834", 
            "name": "Partington disease"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111834", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111834", 
            "name": "X-linked reticulate pigmentary disorder with systemic manifestations"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111834", 
        "description": "A pigmentation disease characterized by early onset of recurrent respiratory infections, failure to thrive resulting from inflammatory gastroenteritis or colitis, and reticular pigmentation abnormalities of the skin in hemizygous males and only pigmentary abnormalities along the lines of Blaschko in heterozygous females that has_material_basis_in mutation in POLA1 on chromosome Xp22.1-p21.3.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111834", 
        "name": "X-linked reticulate pigmentary disorder"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111834#disease-associations", 
            "id": "0111834", 
            "database": "Alliance of Genome Resources"
        }
    ]
}