{
    "disease_id": "DOID:0070676",
    "recommended_name": {
        "id": "DOID:0070676",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070676",
        "name": "autosomal recessive nonsyndromic deafness 124",
        "description": "An autosomal recessive nonsyndromic deafness characterized by congenital progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the PKHD1L1 gene on chromosome 8q23."
    },
    "synonyms": [
        {
            "id": "DOID:0070676",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070676",
            "name": "DFNB124",
            "description": ""
        },
        {
            "id": "DOID:0070676",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070676",
            "name": "autosomal recessive deafness 124",
            "description": ""
        },
        {
            "id": "MONDO:0968981",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0968981",
            "name": "autosomal recessive nonsyndromic hearing loss 124",
            "description": ""
        },
        {
            "id": "MONDO:0968981",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0968981",
            "name": "deafness, autosomal recessive 124",
            "description": ""
        },
        {
            "id": "MIM:620794",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620794",
            "name": "Deafness, autosomal recessive, 124",
            "description": "Deafness, autosomal recessive, 124"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070676"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070676",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070676",
            "categories": []
        },
        {
            "id": "MONDO:0968981",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0968981",
            "categories": []
        },
        {
            "id": "MIM:620794",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620794",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q86WI1-1",
            "uniprot_ac": "Q86WI1",
            "uniprot_id": "PKHL1_HUMAN",
            "refseq_ac": "NP_803875",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibrocystin-L",
                    "type": "recommended"
                },
                {
                    "name": "PKHD1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Polycystic kidney and hepatic disease 1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "fibrocystin-L precursor",
                    "type": "synonym"
                },
                {
                    "name": "fibrocystin-L",
                    "type": "synonym"
                },
                {
                    "name": "polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1",
                    "type": "synonym"
                },
                {
                    "name": "polycystic kidney and hepatic disease 1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "polycystic kidney and hepatic disease-like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PKHD1L1",
                    "type": "recommended"
                },
                {
                    "name": "DFNB124",
                    "type": "synonym"
                },
                {
                    "name": "PKHD1L1",
                    "type": "synonym"
                },
                {
                    "name": "PKHDL1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86WI1-1",
            "evidence": [
                {
                    "id": "620794",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620794"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070676"
}