{
    "disease_id": "DOID:0070687",
    "recommended_name": {
        "id": "DOID:0070687",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070687",
        "name": "normal pressure hydrocephalus 1",
        "description": "A normal pressure hydrocephalus that has_material_basis_in heterozygous mutation in the CFAP43 gene on chromosome 10q25."
    },
    "synonyms": [
        {
            "id": "MONDO:0009366",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009366",
            "name": "normal pressure hydrocephalus",
            "description": "A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)"
        },
        {
            "id": "MONDO:0009366",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009366",
            "name": "NPH",
            "description": ""
        },
        {
            "id": "MONDO:0009366",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009366",
            "name": "chronic adult hydrocephalus",
            "description": ""
        },
        {
            "id": "MONDO:0009366",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009366",
            "name": "hydrocephalus, normal pressure, 1",
            "description": ""
        },
        {
            "id": "MIM:236690",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/236690",
            "name": "Hydrocephalus, normal pressure, 1",
            "description": "Hydrocephalus, normal pressure, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070687"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070687",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070687",
            "categories": []
        },
        {
            "id": "MONDO:0009366",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009366",
            "categories": []
        },
        {
            "id": "MIM:236690",
            "database": "MIM",
            "url": "https://www.omim.org/entry/236690",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8NDM7-1",
            "uniprot_ac": "Q8NDM7",
            "uniprot_id": "CFA43_HUMAN",
            "refseq_ac": "NP_079421",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cilia- and flagella-associated protein 43",
                    "type": "recommended"
                },
                {
                    "name": "WD repeat domain 96",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein 96",
                    "type": "synonym"
                },
                {
                    "name": "WD repeat-containing protein C10orf79",
                    "type": "synonym"
                },
                {
                    "name": "cilia- and flagella-associated protein 43",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CFAP43",
                    "type": "recommended"
                },
                {
                    "name": "C10orf79",
                    "type": "synonym"
                },
                {
                    "name": "CFAP43",
                    "type": "synonym"
                },
                {
                    "name": "HYDNP1",
                    "type": "synonym"
                },
                {
                    "name": "SPGF19",
                    "type": "synonym"
                },
                {
                    "name": "WDR96",
                    "type": "synonym"
                },
                {
                    "name": "bA373N18.2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NDM7-1",
            "evidence": [
                {
                    "id": "236690",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/236690"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070687"
}