{
    "disease_id": "DOID:0070685",
    "recommended_name": {
        "id": "DOID:0070685",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070685",
        "name": "congenital hydrocephalus 4",
        "description": "A congenital hydrocephalus that has_material_basis_in heterozygous mutation in the TRIM71 gene on chromosome 3p22."
    },
    "synonyms": [
        {
            "id": "MONDO:0032862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032862",
            "name": "hydrocephalus, congenital communicating, 1",
            "description": ""
        },
        {
            "id": "MONDO:0032862",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032862",
            "name": "HYDCC1",
            "description": ""
        },
        {
            "id": "MIM:618667",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618667",
            "name": "Hydrocephalus, congenital, 4",
            "description": "Hydrocephalus, congenital, 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070685"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070685",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070685",
            "categories": []
        },
        {
            "id": "MONDO:0032862",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032862",
            "categories": []
        },
        {
            "id": "MIM:618667",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618667",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q2Q1W2-1",
            "uniprot_ac": "Q2Q1W2",
            "uniprot_id": "LIN41_HUMAN",
            "refseq_ac": "NP_001034200",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase TRIM71",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase TRIM71",
                    "type": "synonym"
                },
                {
                    "name": "Protein lin-41 homolog",
                    "type": "synonym"
                },
                {
                    "name": "RING-type E3 ubiquitin transferase TRIM71",
                    "type": "synonym"
                },
                {
                    "name": "Tripartite motif-containing protein 71",
                    "type": "synonym"
                },
                {
                    "name": "abnormal cell LINeage LIN-41",
                    "type": "synonym"
                },
                {
                    "name": "homolog of C. elegans Lin-41",
                    "type": "synonym"
                },
                {
                    "name": "protein lin-41 homolog",
                    "type": "synonym"
                },
                {
                    "name": "tripartite motif containing 71, E3 ubiquitin protein ligase",
                    "type": "synonym"
                },
                {
                    "name": "tripartite motif-containing protein 71",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRIM71",
                    "type": "recommended"
                },
                {
                    "name": "HYC4",
                    "type": "synonym"
                },
                {
                    "name": "HYDCC1",
                    "type": "synonym"
                },
                {
                    "name": "LIN-41",
                    "type": "synonym"
                },
                {
                    "name": "LIN41",
                    "type": "synonym"
                },
                {
                    "name": "TRIM71",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2Q1W2-1",
            "evidence": [
                {
                    "id": "618667",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618667"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070685"
}