{
    "disease_id": "DOID:0112128",
    "recommended_name": {
        "id": "DOID:0112128",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112128",
        "name": "X-linked severe congenital neutropenia",
        "description": "A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23."
    },
    "synonyms": [
        {
            "id": "DOID:0112128",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112128",
            "name": "SCNX",
            "description": ""
        },
        {
            "id": "DOID:0112128",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112128",
            "name": "XLN",
            "description": ""
        },
        {
            "id": "MONDO:0010294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010294",
            "name": "X-linked severe congenital neutropenia",
            "description": "This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein."
        },
        {
            "id": "MONDO:0010294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010294",
            "name": "X-linked severe congenital neutropenia",
            "description": ""
        },
        {
            "id": "MONDO:0010294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010294",
            "name": "neutropenia, severe congenital, X-linked, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010294",
            "name": "severe congenital neutropenia, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010294",
            "name": "SCNX",
            "description": ""
        },
        {
            "id": "MONDO:0010294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010294",
            "name": "neutropenia, severe congenital, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010294",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010294",
            "name": "severe congenital neutropenia X-linked",
            "description": ""
        },
        {
            "id": "MIM:300299",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300299",
            "name": "Neutropenia, severe congenital, X-linked",
            "description": "Neutropenia, severe congenital, X-linked"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112128"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112128",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112128",
            "categories": []
        },
        {
            "id": "MONDO:0010294",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010294",
            "categories": []
        },
        {
            "id": "MIM:300299",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300299",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1Q6U7-1",
            "uniprot_ac": "F1Q6U7",
            "uniprot_id": "F1Q6U7_DANRE",
            "refseq_ac": "XP_699919",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein wasa",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein wasa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wasa",
                    "type": "recommended"
                },
                {
                    "name": "wasa",
                    "type": "synonym"
                }
            ],
            "record_id": "F1Q6U7-1",
            "evidence": [
                {
                    "id": "0112128",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112128"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70315-1",
            "uniprot_ac": "P70315",
            "uniprot_id": "WASP_MOUSE",
            "refseq_ac": "NP_033541",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin nucleation-promoting factor WAS",
                    "type": "recommended"
                },
                {
                    "name": "WASp",
                    "type": "synonym"
                },
                {
                    "name": "Wiskott-Aldrich syndrome homolog",
                    "type": "synonym"
                },
                {
                    "name": "Wiskott-Aldrich syndrome protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "actin nucleation-promoting factor WAS",
                    "type": "synonym"
                },
                {
                    "name": "wiskott-Aldrich syndrome protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Was",
                    "type": "recommended"
                },
                {
                    "name": "Wasp",
                    "type": "synonym"
                },
                {
                    "name": "Was",
                    "type": "synonym"
                }
            ],
            "record_id": "P70315-1",
            "evidence": [
                {
                    "id": "0112128",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112128"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42768-1",
            "uniprot_ac": "P42768",
            "uniprot_id": "WASP_HUMAN",
            "refseq_ac": "NP_000368",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin nucleation-promoting factor WAS",
                    "type": "recommended"
                },
                {
                    "name": "WASp",
                    "type": "synonym"
                },
                {
                    "name": "Wiskott-Aldrich syndrome protein",
                    "type": "synonym"
                },
                {
                    "name": "actin nucleation-promoting factor WAS isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "actin nucleation-promoting factor WAS",
                    "type": "synonym"
                },
                {
                    "name": "eczema-thrombocytopenia",
                    "type": "synonym"
                },
                {
                    "name": "thrombocytopenia 1 (X-linked)",
                    "type": "synonym"
                },
                {
                    "name": "wiskott-Aldrich syndrome protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WAS",
                    "type": "recommended"
                },
                {
                    "name": "IMD2",
                    "type": "synonym"
                },
                {
                    "name": "SCNX",
                    "type": "synonym"
                },
                {
                    "name": "THC1",
                    "type": "synonym"
                },
                {
                    "name": "THC",
                    "type": "synonym"
                },
                {
                    "name": "WASPA",
                    "type": "synonym"
                },
                {
                    "name": "WASP",
                    "type": "synonym"
                },
                {
                    "name": "WAS",
                    "type": "synonym"
                }
            ],
            "record_id": "P42768-1",
            "evidence": [
                {
                    "id": "300299",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300299"
                },
                {
                    "id": "0112128",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112128"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12446-1",
            "uniprot_ac": "Q12446",
            "uniprot_id": "LAS17_YEAST",
            "refseq_ac": "NP_014824",
            "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": "Proline-rich protein LAS17",
                    "type": "recommended"
                },
                {
                    "name": "actin-binding protein LAS17",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LAS17",
                    "type": "recommended"
                },
                {
                    "name": "BEE1",
                    "type": "synonym"
                },
                {
                    "name": "LAS17",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12446-1",
            "evidence": [
                {
                    "id": "0112128",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112128"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0RBE8-1",
            "uniprot_ac": "M0RBE8",
            "uniprot_id": "M0RBE8_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin nucleation-promoting factor WAS",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Was",
                    "type": "recommended"
                }
            ],
            "record_id": "M0RBE8-1",
            "evidence": [
                {
                    "id": "0112128",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112128"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VAT0-1",
            "uniprot_ac": "Q9VAT0",
            "uniprot_id": "Q9VAT0_DROME",
            "refseq_ac": "NP_001263045",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG1520-PD",
                    "type": "synonym"
                },
                {
                    "name": "WASP",
                    "type": "synonym"
                },
                {
                    "name": "WASp, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "WASp, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "WASp, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "WASp-PD",
                    "type": "synonym"
                },
                {
                    "name": "Wiscott-Aldrich syndrome protein",
                    "type": "synonym"
                },
                {
                    "name": "Wiskott-Aldrich syndrome protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WASp",
                    "type": "recommended"
                },
                {
                    "name": "CG1520",
                    "type": "synonym"
                },
                {
                    "name": "D-WASP",
                    "type": "synonym"
                },
                {
                    "name": "Dm WASP",
                    "type": "synonym"
                },
                {
                    "name": "DmWASP",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1520",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1520",
                    "type": "synonym"
                },
                {
                    "name": "N-WASP",
                    "type": "synonym"
                },
                {
                    "name": "WASP",
                    "type": "synonym"
                },
                {
                    "name": "WASp",
                    "type": "synonym"
                },
                {
                    "name": "WSP",
                    "type": "synonym"
                },
                {
                    "name": "Wasp",
                    "type": "synonym"
                },
                {
                    "name": "Wsp",
                    "type": "synonym"
                },
                {
                    "name": "dWASP",
                    "type": "synonym"
                },
                {
                    "name": "wasp",
                    "type": "synonym"
                },
                {
                    "name": "wsp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VAT0-1",
            "evidence": [
                {
                    "id": "0112128",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112128"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112128"
}