{
    "disease_id": "DOID:0111355",
    "recommended_name": {
        "id": "DOID:0111355",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111355",
        "name": "hydrolethalus syndrome 1",
        "description": "A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HYLS1 gene on chromosome 11q24.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111355",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111355",
            "name": "HLS1",
            "description": ""
        },
        {
            "id": "MONDO:0009365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009365",
            "name": "hydrolethalus syndrome 1",
            "description": "Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene."
        },
        {
            "id": "MONDO:0009365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009365",
            "name": "hydrolethalus syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009365",
            "name": "HYLS1 hydrolethalus syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009365",
            "name": "hydrolethalus syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0009365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009365",
            "name": "hydrolethalus syndrome caused by mutation in HYLS1",
            "description": ""
        },
        {
            "id": "MONDO:0009365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009365",
            "name": "hydrolethalus syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009365",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009365",
            "name": "HLS1",
            "description": ""
        },
        {
            "id": "MIM:236680",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/236680",
            "name": "Hydrolethalus syndrome 1",
            "description": "Hydrolethalus syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111355"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111355",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111355",
            "categories": []
        },
        {
            "id": "MONDO:0009365",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009365",
            "categories": []
        },
        {
            "id": "MIM:236680",
            "database": "MIM",
            "url": "https://www.omim.org/entry/236680",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AXF2-1",
            "uniprot_ac": "A0A8M3AXF2",
            "uniprot_id": "A0A8M3AXF2_DANRE",
            "refseq_ac": "XP_009304140",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein hyls1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein hyls1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hyls1",
                    "type": "recommended"
                },
                {
                    "name": "hyls1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AXF2-1",
            "evidence": [
                {
                    "id": "0111355",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111355"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CXX0-1",
            "uniprot_ac": "Q9CXX0",
            "uniprot_id": "HYLS1_MOUSE",
            "refseq_ac": "NP_084038",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centriolar and ciliogenesis-associated protein HYLS1",
                    "type": "recommended"
                },
                {
                    "name": "Hydrolethalus syndrome protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "centriolar and ciliogenesis-associated protein HYLS1",
                    "type": "synonym"
                },
                {
                    "name": "hydrolethalus syndrome 1",
                    "type": "synonym"
                },
                {
                    "name": "hydrolethalus syndrome protein 1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hyls1",
                    "type": "recommended"
                },
                {
                    "name": "3010015K02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Hyls1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CXX0-1",
            "evidence": [
                {
                    "id": "0111355",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111355"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96M11-1",
            "uniprot_ac": "Q96M11",
            "uniprot_id": "HYLS1_HUMAN",
            "refseq_ac": "NP_001128265",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centriolar and ciliogenesis-associated protein HYLS1",
                    "type": "recommended"
                },
                {
                    "name": "Hydrolethalus syndrome protein 1",
                    "type": "synonym"
                },
                {
                    "name": "centriolar and ciliogenesis-associated protein HYLS1",
                    "type": "synonym"
                },
                {
                    "name": "hydrolethalus syndrome 1",
                    "type": "synonym"
                },
                {
                    "name": "hydrolethalus syndrome protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HYLS1",
                    "type": "recommended"
                },
                {
                    "name": "HLS",
                    "type": "synonym"
                },
                {
                    "name": "HYLS1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96M11-1",
            "evidence": [
                {
                    "id": "236680",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/236680"
                },
                {
                    "id": "0111355",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111355"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0L3R2-1",
            "uniprot_ac": "A0ABK0L3R2",
            "uniprot_id": "A0ABK0L3R2_RAT",
            "refseq_ac": "NP_001385890",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "HYLS1, centriolar and ciliogenesis associated",
                    "type": "synonym"
                },
                {
                    "name": "centriolar and ciliogenesis-associated protein HYLS1",
                    "type": "synonym"
                },
                {
                    "name": "hydrolethalus syndrome 1",
                    "type": "synonym"
                },
                {
                    "name": "hydrolethalus syndrome protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hyls1",
                    "type": "recommended"
                },
                {
                    "name": "Hyls1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0L3R2-1",
            "evidence": [
                {
                    "id": "0111355",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111355"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B7YZW2-1",
            "uniprot_ac": "B7YZW2",
            "uniprot_id": "B7YZW2_DROME",
            "refseq_ac": "NP_001137828",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG42231-PA",
                    "type": "synonym"
                },
                {
                    "name": "Hyls1 centriolar and ciliogenesis associated",
                    "type": "synonym"
                },
                {
                    "name": "Hyls1-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hyls1",
                    "type": "recommended"
                },
                {
                    "name": "CG42231",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42231",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42231",
                    "type": "synonym"
                },
                {
                    "name": "HYLS1",
                    "type": "synonym"
                },
                {
                    "name": "Hyls1",
                    "type": "synonym"
                },
                {
                    "name": "hyls1",
                    "type": "synonym"
                }
            ],
            "record_id": "B7YZW2-1",
            "evidence": [
                {
                    "id": "0111355",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111355"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111355"
}