{
    "disease_id": "DOID:0111834",
    "recommended_name": {
        "id": "DOID:0111834",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111834",
        "name": "X-linked reticulate pigmentary disorder",
        "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 the POLA1 gene on chromosome Xp22.1-p21.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111834",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111834",
            "name": "Partington disease",
            "description": ""
        },
        {
            "id": "DOID:0111834",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111834",
            "name": "X-linked reticulate pigmentary disorder with systemic manifestations",
            "description": ""
        },
        {
            "id": "MONDO:0010523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010523",
            "name": "X-linked reticulate pigmentary disorder",
            "description": "X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature."
        },
        {
            "id": "MONDO:0010523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010523",
            "name": "PDR",
            "description": ""
        },
        {
            "id": "MONDO:0010523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010523",
            "name": "Partington disease",
            "description": ""
        },
        {
            "id": "MONDO:0010523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010523",
            "name": "X-linked cutaneous amyloidosis",
            "description": ""
        },
        {
            "id": "MONDO:0010523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010523",
            "name": "XLPDR",
            "description": ""
        },
        {
            "id": "MONDO:0010523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010523",
            "name": "familial cutaneous amyloidosis",
            "description": ""
        },
        {
            "id": "MONDO:0010523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010523",
            "name": "pigmentary disorder, reticulate, with systemic manifestations, X-linked, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010523",
            "name": "pigmentary disorder, reticulate, with systemic manifestations",
            "description": ""
        },
        {
            "id": "MIM:301220",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301220",
            "name": "Pigmentary disorder, reticulate, with systemic manifestations, X-linked",
            "description": "Pigmentary disorder, reticulate, with systemic manifestations, X-linked"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111834"
    ],
    "unlinked_id_list": []
}