{
    "disease_id": "DOID:0050779",
    "recommended_name": {
        "id": "DOID:0050779",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050779",
        "name": "hydrolethalus syndrome",
        "description": "A syndrome characterized by multiple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation."
    },
    "synonyms": [
        {
            "id": "DOID:0050779",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050779",
            "name": "Salonen-Herva-Norio syndrome",
            "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": "DOID:0111355",
            "label": "hydrolethalus syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111356",
            "label": "hydrolethalus syndrome 2",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0050779",
        "DOID:0111356",
        "DOID:0111355"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050779",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050779",
            "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": "0050779",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050779"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q58G59-1",
            "uniprot_ac": "Q58G59",
            "uniprot_id": "KIF7_DANRE",
            "refseq_ac": "NP_001014816",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein kif7",
                    "type": "recommended"
                },
                {
                    "name": "Kinesin-like protein costal2",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein costal2",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein kif7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kif7",
                    "type": "recommended"
                },
                {
                    "name": "cos2",
                    "type": "synonym"
                },
                {
                    "name": "costal2",
                    "type": "synonym"
                },
                {
                    "name": "kif7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q58G59-1",
            "evidence": [
                {
                    "id": "0050779",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050779"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B7ZNG0-1",
            "uniprot_ac": "B7ZNG0",
            "uniprot_id": "KIF7_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF7",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Kif7",
                    "type": "recommended"
                }
            ],
            "record_id": "B7ZNG0-1",
            "evidence": [
                {
                    "id": "0050779",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050779"
                }
            ]
        },
        {
            "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": "0050779",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050779"
                }
            ]
        },
        {
            "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": "0050779",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050779"
                }
            ]
        },
        {
            "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",
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                {
                    "id": "0050779",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050779"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LGI9-1",
            "uniprot_ac": "A0ABK0LGI9",
            "uniprot_id": "A0ABK0LGI9_RAT",
            "refseq_ac": "NP_001419074",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Kinesin family member 7",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF7 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kif7",
                    "type": "recommended"
                },
                {
                    "name": "Kif7",
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                }
            ],
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                    "id": "0050779",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050779"
                }
            ]
        },
        {
            "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"
                }
            ],
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                {
                    "id": "0050779",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050779"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O16844-1",
            "uniprot_ac": "O16844",
            "uniprot_id": "COS_DROME",
            "refseq_ac": "NP_001260765",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein costa",
                    "type": "recommended"
                },
                {
                    "name": "CG1708-PB",
                    "type": "synonym"
                },
                {
                    "name": "Costal-2",
                    "type": "synonym"
                },
                {
                    "name": "DmCostal2",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin-like protein costal2",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin_B",
                    "type": "synonym"
                },
                {
                    "name": "cos-PB",
                    "type": "synonym"
                },
                {
                    "name": "costa, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "costal 2",
                    "type": "synonym"
                },
                {
                    "name": "costal2",
                    "type": "synonym"
                },
                {
                    "name": "costa",
                    "type": "synonym"
                },
                {
                    "name": "enhancer of epaulette",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cos",
                    "type": "recommended"
                },
                {
                    "name": "28",
                    "type": "synonym"
                },
                {
                    "name": "B",
                    "type": "synonym"
                },
                {
                    "name": "CG1708",
                    "type": "synonym"
                },
                {
                    "name": "COS2",
                    "type": "synonym"
                },
                {
                    "name": "COS[2]",
                    "type": "synonym"
                },
                {
                    "name": "Cos-2",
                    "type": "synonym"
                },
                {
                    "name": "Cos2",
                    "type": "synonym"
                },
                {
                    "name": "Cos[2]",
                    "type": "synonym"
                },
                {
                    "name": "Costal2",
                    "type": "synonym"
                },
                {
                    "name": "Cos",
                    "type": "synonym"
                },
                {
                    "name": "DmCos2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1708",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1708",
                    "type": "synonym"
                },
                {
                    "name": "KIF26A/B",
                    "type": "synonym"
                },
                {
                    "name": "Kif7",
                    "type": "synonym"
                },
                {
                    "name": "cos-2",
                    "type": "synonym"
                },
                {
                    "name": "cos2",
                    "type": "synonym"
                },
                {
                    "name": "costal-2",
                    "type": "synonym"
                },
                {
                    "name": "cos",
                    "type": "synonym"
                },
                {
                    "name": "l(2)161/28",
                    "type": "synonym"
                },
                {
                    "name": "l(2)cos[[2]]",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k16101",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k16128",
                    "type": "synonym"
                }
            ],
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                    "id": "0050779",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050779"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2M1P5-1",
            "uniprot_ac": "Q2M1P5",
            "uniprot_id": "KIF7_HUMAN",
            "refseq_ac": "NP_940927",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF7",
                    "type": "recommended"
                },
                {
                    "name": "EQYK340",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KIF7",
                    "type": "recommended"
                },
                {
                    "name": "ACLS",
                    "type": "synonym"
                },
                {
                    "name": "AGBK",
                    "type": "synonym"
                },
                {
                    "name": "HLS2",
                    "type": "synonym"
                },
                {
                    "name": "JBTS12",
                    "type": "synonym"
                },
                {
                    "name": "KIF7",
                    "type": "synonym"
                },
                {
                    "name": "MMEDF",
                    "type": "synonym"
                },
                {
                    "name": "PRO539",
                    "type": "synonym"
                },
                {
                    "name": "UNQ340",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2M1P5-1",
            "evidence": [
                {
                    "id": "0050779",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050779"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050779"
}