{
    "disease_id": "DOID:0111840",
    "recommended_name": {
        "id": "DOID:0111840",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111840",
        "name": "Van Esch-O'Driscoll syndrome",
        "description": "A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in the POLA1 gene on chromosome Xp22.1-p21.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111840",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111840",
            "name": "X-linked syndromic mental retardation Van Esch-O'Driscoll type",
            "description": ""
        },
        {
            "id": "DOID:0111840",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111840",
            "name": "MRXSVEOD",
            "description": ""
        },
        {
            "id": "DOID:0111840",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111840",
            "name": "VEODS",
            "description": ""
        },
        {
            "id": "DOID:0111840",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111840",
            "name": "X-linked intellectual disability, Van Esch type",
            "description": ""
        },
        {
            "id": "MONDO:0015601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015601",
            "name": "X-linked intellectual disability, van Esch type",
            "description": "X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism."
        },
        {
            "id": "MONDO:0015601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015601",
            "name": "VEODS",
            "description": ""
        },
        {
            "id": "MONDO:0015601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015601",
            "name": "Van Esch-O'Driscoll syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0015601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015601",
            "name": "Van Esch-O'Driscoll syndrome, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0015601",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015601",
            "name": "mental retardation, X-Linked, syndromic, Van Esch-O'Driscoll type",
            "description": ""
        },
        {
            "id": "MIM:301030",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301030",
            "name": "Van Esch-O'Driscoll syndrome",
            "description": "Van Esch-O'Driscoll syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111840"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111840",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111840",
            "categories": []
        },
        {
            "id": "MONDO:0015601",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015601",
            "categories": []
        },
        {
            "id": "MIM:301030",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301030",
            "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": "0111840",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111840"
                }
            ]
        },
        {
            "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": "0111840",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111840"
                }
            ]
        },
        {
            "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": "301030",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/301030"
                },
                {
                    "id": "0111840",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111840"
                }
            ]
        },
        {
            "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": "0111840",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111840"
                }
            ]
        },
        {
            "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": "0111840",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111840"
                }
            ]
        },
        {
            "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": "0111840",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111840"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111840"
}