{
    "disease_id": "DOID:0070683",
    "recommended_name": {
        "id": "DOID:0070683",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070683",
        "name": "congenital hydrocephalus 2",
        "description": "A congenital hydrocephalus that has_material_basis_in homozygous mutation in the MPDZ gene on chromosome 9p23."
    },
    "synonyms": [
        {
            "id": "MONDO:0014085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014085",
            "name": "hydrocephalus, nonsyndromic, autosomal recessive 2",
            "description": "Any congenital hydrocephalus in which the cause of the disease is a mutation in the MPDZ gene."
        },
        {
            "id": "MONDO:0014085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014085",
            "name": "MPDZ congenital hydrocephalus",
            "description": ""
        },
        {
            "id": "MONDO:0014085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014085",
            "name": "congenital hydrocephalus caused by mutation in MPDZ",
            "description": ""
        },
        {
            "id": "MONDO:0014085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014085",
            "name": "hydrocephalus, congenital, 2, with or without brain or eye anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0014085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014085",
            "name": "hydrocephalus, nonsyndromic, autosomal recessive 2",
            "description": ""
        },
        {
            "id": "MONDO:0014085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014085",
            "name": "hydrocephalus, nonsyndromic, autosomal recessive type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014085",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014085",
            "name": "HYC2",
            "description": ""
        },
        {
            "id": "MIM:615219",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615219",
            "name": "Hydrocephalus, congenital, 2, with or without brain or eye anomalies",
            "description": "Hydrocephalus, congenital, 2, with or without brain or eye anomalies"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070683"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070683",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070683",
            "categories": []
        },
        {
            "id": "MONDO:0014085",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014085",
            "categories": []
        },
        {
            "id": "MIM:615219",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615219",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O75970-1",
            "uniprot_ac": "O75970",
            "uniprot_id": "MPDZ_HUMAN",
            "refseq_ac": "NP_001248335",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Multiple PDZ domain protein",
                    "type": "recommended"
                },
                {
                    "name": "Multi-PDZ domain protein 1",
                    "type": "synonym"
                },
                {
                    "name": "multi-PDZ domain protein 1",
                    "type": "synonym"
                },
                {
                    "name": "multiple PDZ domain protein isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "multiple PDZ domain protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MPDZ",
                    "type": "recommended"
                },
                {
                    "name": "HYC2",
                    "type": "synonym"
                },
                {
                    "name": "MPDZ",
                    "type": "synonym"
                },
                {
                    "name": "MUPP1",
                    "type": "synonym"
                }
            ],
            "record_id": "O75970-1",
            "evidence": [
                {
                    "id": "615219",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615219"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070683"
}