{
    "disease_id": "DOID:0110739",
    "recommended_name": {
        "id": "DOID:0110739",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110739",
        "name": "neurodegeneration with brain iron accumulation 5",
        "description": "A neurodegeneration with brain iron accumulation that has_material_basis_in X-linked dominant inheritance of mutation in the WDR45 gene on chromosome Xp11.23."
    },
    "synonyms": [
        {
            "id": "DOID:0110739",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110739",
            "name": "BPAN",
            "description": ""
        },
        {
            "id": "DOID:0110739",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110739",
            "name": "NBIA5",
            "description": ""
        },
        {
            "id": "DOID:0110739",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110739",
            "name": "SENDA",
            "description": ""
        },
        {
            "id": "DOID:0110739",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110739",
            "name": "Beta-Propeller Protein-Associated Neurodegeneration",
            "description": ""
        },
        {
            "id": "DOID:0110739",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110739",
            "name": "Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood",
            "description": ""
        },
        {
            "id": "MONDO:0010476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010476",
            "name": "neurodegeneration with brain iron accumulation 5",
            "description": "Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood."
        },
        {
            "id": "MONDO:0010476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010476",
            "name": "BPAN",
            "description": ""
        },
        {
            "id": "MONDO:0010476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010476",
            "name": "NBIA5",
            "description": ""
        },
        {
            "id": "MONDO:0010476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010476",
            "name": "SENDA",
            "description": ""
        },
        {
            "id": "MONDO:0010476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010476",
            "name": "WDR45 neurodegeneration with brain iron accumulation",
            "description": ""
        },
        {
            "id": "MONDO:0010476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010476",
            "name": "beta-propeller protein-associated neurodegeneration",
            "description": ""
        },
        {
            "id": "MONDO:0010476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010476",
            "name": "neurodegeneration with brain iron accumulation 5",
            "description": ""
        },
        {
            "id": "MONDO:0010476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010476",
            "name": "neurodegeneration with brain iron accumulation 5, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010476",
            "name": "neurodegeneration with brain iron accumulation caused by mutation in WDR45",
            "description": ""
        },
        {
            "id": "MONDO:0010476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010476",
            "name": "neurodegeneration with brain iron accumulation type 5",
            "description": ""
        },
        {
            "id": "MONDO:0010476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010476",
            "name": "static encephalopathy Of childhood with neurodegeneration In adulthood",
            "description": ""
        },
        {
            "id": "MONDO:0010476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010476",
            "name": "static encephalopathy of childhood with neurdegeneration in adulthood",
            "description": ""
        },
        {
            "id": "MONDO:0010476",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010476",
            "name": "neurodegeneration with brain iron accululation 5",
            "description": ""
        },
        {
            "id": "MIM:300894",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300894",
            "name": "Neurodegeneration with brain iron accumulation 5",
            "description": "Neurodegeneration with brain iron accumulation 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110739"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110739",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110739",
            "categories": []
        },
        {
            "id": "MONDO:0010476",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010476",
            "categories": []
        },
        {
            "id": "MIM:300894",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300894",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZUX3-1",
            "uniprot_ac": "Q7ZUX3",
            "uniprot_id": "WIPI4_DANRE",
            "refseq_ac": "NP_956525",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat domain phosphoinositide-interacting protein 4",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat domain phosphoinositide-interacting protein 4",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 45",
                    "type": "synonym"
                },
                {
                    "name": "WIPI-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wdr45",
                    "type": "recommended"
                },
                {
                    "name": "wdr45",
                    "type": "synonym"
                },
                {
                    "name": "wipi4",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56345",
                    "type": "synonym"
                },
                {
                    "name": "zgc:77017",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZUX3-1",
            "evidence": [
                {
                    "id": "0110739",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110739"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91VM3-1",
            "uniprot_ac": "Q91VM3",
            "uniprot_id": "WIPI4_MOUSE",
            "refseq_ac": "NP_001277721",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat domain phosphoinositide-interacting protein 4",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat domain X-linked 1",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat domain phosphoinositide-interacting protein 4 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat domain phosphoinositide-interacting protein 4",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat domain, X-linked 1",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 45",
                    "type": "synonym"
                },
                {
                    "name": "WIPI-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wdr45",
                    "type": "recommended"
                },
                {
                    "name": "DXImx38e",
                    "type": "synonym"
                },
                {
                    "name": "JM5",
                    "type": "synonym"
                },
                {
                    "name": "Sfc19",
                    "type": "synonym"
                },
                {
                    "name": "WIPI-4",
                    "type": "synonym"
                },
                {
                    "name": "Wdr45",
                    "type": "synonym"
                },
                {
                    "name": "Wdrx1",
                    "type": "synonym"
                },
                {
                    "name": "Wipi4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91VM3-1",
            "evidence": [
                {
                    "id": "0110739",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110739"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y484-1",
            "uniprot_ac": "Q9Y484",
            "uniprot_id": "WIPI4_HUMAN",
            "refseq_ac": "NP_001025067",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat domain phosphoinositide-interacting protein 4",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat domain phosphoinositide-interacting protein 4 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat domain phosphoinositide-interacting protein 4",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat domain, X-linked 1",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 45",
                    "type": "synonym"
                },
                {
                    "name": "WD45 repeat protein interacting with phosphoinositides 4",
                    "type": "synonym"
                },
                {
                    "name": "WIPI-4",
                    "type": "synonym"
                },
                {
                    "name": "neurodegeneration with brain iron accumulation 4",
                    "type": "synonym"
                },
                {
                    "name": "neurodegeneration with brain iron accumulation 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WDR45",
                    "type": "recommended"
                },
                {
                    "name": "JM5",
                    "type": "synonym"
                },
                {
                    "name": "NBIA4",
                    "type": "synonym"
                },
                {
                    "name": "NBIA5",
                    "type": "synonym"
                },
                {
                    "name": "WDR45",
                    "type": "synonym"
                },
                {
                    "name": "WDRX1",
                    "type": "synonym"
                },
                {
                    "name": "WDRXI4",
                    "type": "synonym"
                },
                {
                    "name": "WIPI-4",
                    "type": "synonym"
                },
                {
                    "name": "WIPI4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y484-1",
            "evidence": [
                {
                    "id": "300894",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300894"
                },
                {
                    "id": "0110739",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110739"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50079-1",
            "uniprot_ac": "P50079",
            "uniprot_id": "HSV2_YEAST",
            "refseq_ac": "NP_011739",
            "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": "SVP1-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "phosphatidylinositol-3,5-bisphosphate binding protein HSV2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HSV2",
                    "type": "recommended"
                },
                {
                    "name": "G8530",
                    "type": "synonym"
                },
                {
                    "name": "HSV2",
                    "type": "synonym"
                }
            ],
            "record_id": "P50079-1",
            "evidence": [
                {
                    "id": "0110739",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110739"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5U2Y0-1",
            "uniprot_ac": "Q5U2Y0",
            "uniprot_id": "WIPI4_RAT",
            "refseq_ac": "NP_001013980",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "WD repeat domain phosphoinositide-interacting protein 4",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat domain phosphoinositide-interacting protein 4 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat domain phosphoinositide-interacting protein 4",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 45",
                    "type": "synonym"
                },
                {
                    "name": "WIPI-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wdr45",
                    "type": "recommended"
                },
                {
                    "name": "Wdr45",
                    "type": "synonym"
                },
                {
                    "name": "Wipi4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5U2Y0-1",
            "evidence": [
                {
                    "id": "0110739",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110739"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110739"
}