{
    "disease_id": "DOID:0070681",
    "recommended_name": {
        "id": "DOID:0070681",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070681",
        "name": "congenital hydrocephalus",
        "description": "A hydrocephalus characterized by fetal or congenital onset."
    },
    "synonyms": [
        {
            "id": "MONDO:0009360",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009360",
            "name": "hydrocephalus, nonsyndromic, autosomal recessive 1",
            "description": "Any congenital hydrocephalus in which the cause of the disease is a mutation in the CCDC88C gene."
        },
        {
            "id": "MONDO:0009360",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009360",
            "name": "CCDC88C congenital hydrocephalus",
            "description": ""
        },
        {
            "id": "MONDO:0009360",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009360",
            "name": "congenital hydrocephalus caused by mutation in CCDC88C",
            "description": ""
        },
        {
            "id": "MONDO:0009360",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009360",
            "name": "hydrocephalus, congenital, 1",
            "description": ""
        },
        {
            "id": "MONDO:0009360",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009360",
            "name": "hydrocephalus, nonsyndromic, autosomal recessive 1",
            "description": ""
        },
        {
            "id": "MONDO:0009360",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009360",
            "name": "hydrocephalus, nonsyndromic, autosomal recessive type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009360",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009360",
            "name": "HYC1",
            "description": ""
        },
        {
            "id": "MIM:236600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/236600",
            "name": "Hydrocephalus, congenital, 1",
            "description": "Hydrocephalus, congenital, 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0070682",
            "label": "congenital hydrocephalus 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070683",
            "label": "congenital hydrocephalus 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070684",
            "label": "congenital hydrocephalus 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070685",
            "label": "congenital hydrocephalus 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070686",
            "label": "X-linked congenital hydrocephalus",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0070684",
        "DOID:0070685",
        "DOID:0070683",
        "DOID:0070682",
        "DOID:0070686",
        "DOID:0070681"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070681",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070681",
            "categories": []
        },
        {
            "id": "MONDO:0009360",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009360",
            "categories": []
        },
        {
            "id": "MIM:236600",
            "database": "MIM",
            "url": "https://www.omim.org/entry/236600",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9P219-1",
            "uniprot_ac": "Q9P219",
            "uniprot_id": "DAPLE_HUMAN",
            "refseq_ac": "NP_001073883",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Daple",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 88C",
                    "type": "synonym"
                },
                {
                    "name": "Dvl-associating protein with a high frequency of leucine residues",
                    "type": "synonym"
                },
                {
                    "name": "HkRP2",
                    "type": "synonym"
                },
                {
                    "name": "Hook-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 88C",
                    "type": "synonym"
                },
                {
                    "name": "hDaple",
                    "type": "synonym"
                },
                {
                    "name": "hook-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "protein Daple",
                    "type": "synonym"
                },
                {
                    "name": "spinocerebellar ataxia 40",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CCDC88C",
                    "type": "recommended"
                },
                {
                    "name": "CCDC88C",
                    "type": "synonym"
                },
                {
                    "name": "DAPLE",
                    "type": "synonym"
                },
                {
                    "name": "HKRP2",
                    "type": "synonym"
                },
                {
                    "name": "HYC1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1509",
                    "type": "synonym"
                },
                {
                    "name": "SCA40",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9P219-1",
            "evidence": [
                {
                    "id": "236600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/236600"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070681"
}