{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0111834",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111834",
            "categories": []
        },
        {
            "id": "MONDO:0010523",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010523",
            "categories": []
        },
        {
            "id": "MIM:301220",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301220",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FB68-1",
            "uniprot_ac": "E7FB68",
            "uniprot_id": "E7FB68_DANRE",
            "refseq_ac": "NP_001292393",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA polymerase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.7",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase alpha catalytic subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pola1",
                    "type": "recommended"
                },
                {
                    "name": "cb678",
                    "type": "synonym"
                },
                {
                    "name": "pola1",
                    "type": "synonym"
                },
                {
                    "name": "pola",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FB68-1",
            "evidence": [
                {
                    "id": "0111834",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111834"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P33609-1",
            "uniprot_ac": "P33609",
            "uniprot_id": "DPOLA_MOUSE",
            "refseq_ac": "NP_032918",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA polymerase alpha catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.7",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase alpha 1, 180 kDa",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase alpha catalytic subunit p180",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase alpha catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "G7a/Bat6Hom",
                    "type": "synonym"
                },
                {
                    "name": "polymerase, alpha 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pola1",
                    "type": "recommended"
                },
                {
                    "name": "Pola1",
                    "type": "synonym"
                },
                {
                    "name": "Pola",
                    "type": "synonym"
                }
            ],
            "record_id": "P33609-1",
            "evidence": [
                {
                    "id": "0111834",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111834"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09884-1",
            "uniprot_ac": "P09884",
            "uniprot_id": "DPOLA_HUMAN",
            "refseq_ac": "NP_058633",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA polymerase alpha catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.7",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase alpha catalytic subunit isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase alpha catalytic subunit p180",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (DNA directed), alpha 1, catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (DNA) alpha 1, catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (DNA-directed), alpha (70kD)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POLA1",
                    "type": "recommended"
                },
                {
                    "name": "NSX",
                    "type": "synonym"
                },
                {
                    "name": "PDR",
                    "type": "synonym"
                },
                {
                    "name": "POLA1",
                    "type": "synonym"
                },
                {
                    "name": "POLA",
                    "type": "synonym"
                },
                {
                    "name": "VEODS",
                    "type": "synonym"
                },
                {
                    "name": "p180",
                    "type": "synonym"
                }
            ],
            "record_id": "P09884-1",
            "evidence": [
                {
                    "id": "301220",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/301220"
                },
                {
                    "id": "0111834",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111834"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13382-1",
            "uniprot_ac": "P13382",
            "uniprot_id": "DPOLA_YEAST",
            "refseq_ac": "NP_014297",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA polymerase alpha catalytic subunit A",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.7",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase I subunit A",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase alpha:primase complex p180 subunit",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase-primase complex p180 subunit",
                    "type": "synonym"
                },
                {
                    "name": "DNA-directed DNA polymerase alpha catalytic subunit POL1",
                    "type": "synonym"
                },
                {
                    "name": "Pol alpha-primase complex p180 subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POL1",
                    "type": "recommended"
                },
                {
                    "name": "CDC17",
                    "type": "synonym"
                },
                {
                    "name": "CRT5",
                    "type": "synonym"
                },
                {
                    "name": "HPR3",
                    "type": "synonym"
                },
                {
                    "name": "N2181",
                    "type": "synonym"
                },
                {
                    "name": "POL1",
                    "type": "synonym"
                }
            ],
            "record_id": "P13382-1",
            "evidence": [
                {
                    "id": "0111834",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111834"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O89042-1",
            "uniprot_ac": "O89042",
            "uniprot_id": "DPOLA_RAT",
            "refseq_ac": "NP_445931",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA polymerase alpha catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.7",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase alpha catalytic subunit p180",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase alpha catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase alpha subunit I",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (DNA directed), alpha 1, catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "polymerase (DNA) alpha 1, catalytic subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pola1",
                    "type": "recommended"
                },
                {
                    "name": "Pola1",
                    "type": "synonym"
                },
                {
                    "name": "Pola",
                    "type": "synonym"
                }
            ],
            "record_id": "O89042-1",
            "evidence": [
                {
                    "id": "0111834",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111834"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26019-1",
            "uniprot_ac": "P26019",
            "uniprot_id": "DPOLA_DROME",
            "refseq_ac": "NP_536736",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA polymerase alpha catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "180 kDa subunit of DNA polymerase alpha",
                    "type": "synonym"
                },
                {
                    "name": "180 kDa subunit of polymerase-primase",
                    "type": "synonym"
                },
                {
                    "name": "182-kDa polymerase subunit",
                    "type": "synonym"
                },
                {
                    "name": "2.7.7.7",
                    "type": "synonym"
                },
                {
                    "name": "3'-5' exodeoxyribonuclease",
                    "type": "synonym"
                },
                {
                    "name": "3.1.11.-",
                    "type": "synonym"
                },
                {
                    "name": "CG6349-PA",
                    "type": "synonym"
                },
                {
                    "name": "DNA pol 180",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase 180K",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase alpha 148,000 alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase alpha 180 kD",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase alpha 180-kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase alpha 180kD subunit",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase alpha 180kD",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase alpha 182,000 alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase alpha subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase-alpha p180 subunit",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase-primase 180 kda subunit",
                    "type": "synonym"
                },
                {
                    "name": "DNA-polymerase alpha",
                    "type": "synonym"
                },
                {
                    "name": "DNApol-alpha180",
                    "type": "synonym"
                },
                {
                    "name": "PolA1-PA",
                    "type": "synonym"
                },
                {
                    "name": "enhancer of mus304",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PolA1",
                    "type": "recommended"
                },
                {
                    "name": "183 kDa pol alpha",
                    "type": "synonym"
                },
                {
                    "name": "AAB24152",
                    "type": "synonym"
                },
                {
                    "name": "CG6349",
                    "type": "synonym"
                },
                {
                    "name": "Ctf4-polalpha",
                    "type": "synonym"
                },
                {
                    "name": "DNA Pol-alpha180",
                    "type": "synonym"
                },
                {
                    "name": "DNA Polalpha-180",
                    "type": "synonym"
                },
                {
                    "name": "DNA pol alpha",
                    "type": "synonym"
                },
                {
                    "name": "DNA polalpha",
                    "type": "synonym"
                },
                {
                    "name": "DNA polymerase alpha 180 kD",
                    "type": "synonym"
                },
                {
                    "name": "DNA-Polalpha",
                    "type": "synonym"
                },
                {
                    "name": "DNApol-alpha180",
                    "type": "synonym"
                },
                {
                    "name": "DNApol-alpha",
                    "type": "synonym"
                },
                {
                    "name": "DNApolalpha180",
                    "type": "synonym"
                },
                {
                    "name": "DNApolalpha",
                    "type": "synonym"
                },
                {
                    "name": "DNApola",
                    "type": "synonym"
                },
                {
                    "name": "DNApol",
                    "type": "synonym"
                },
                {
                    "name": "DmPolalpha",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6349",
                    "type": "synonym"
                },
                {
                    "name": "Dmpol alpha",
                    "type": "synonym"
                },
                {
                    "name": "E(mus304)",
                    "type": "synonym"
                },
                {
                    "name": "POLA",
                    "type": "synonym"
                },
                {
                    "name": "POlalpha 180kDa",
                    "type": "synonym"
                },
                {
                    "name": "Pol alpha",
                    "type": "synonym"
                },
                {
                    "name": "Pol-alpha180",
                    "type": "synonym"
                },
                {
                    "name": "PolA1",
                    "type": "synonym"
                },
                {
                    "name": "Polalpha 180KDa",
                    "type": "synonym"
                },
                {
                    "name": "Polalpha180",
                    "type": "synonym"
                },
                {
                    "name": "Polalpha",
                    "type": "synonym"
                },
                {
                    "name": "Pol",
                    "type": "synonym"
                },
                {
                    "name": "dpolalphap180",
                    "type": "synonym"
                },
                {
                    "name": "dpolalpha",
                    "type": "synonym"
                },
                {
                    "name": "pol alpha",
                    "type": "synonym"
                },
                {
                    "name": "polalphap180",
                    "type": "synonym"
                },
                {
                    "name": "polalpha",
                    "type": "synonym"
                }
            ],
            "record_id": "P26019-1",
            "evidence": [
                {
                    "id": "0111834",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111834"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111834"
}