{
    "disease_id": "DOID:0111360",
    "recommended_name": {
        "id": "DOID:0111360",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111360",
        "name": "hypotrichosis-lymphedema-telangiectasia-renal defect syndrome",
        "description": "A syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that has_material_basis_in heterozygous mutation in the SOX18 gene on chromosome 20q13.33."
    },
    "synonyms": [
        {
            "id": "DOID:0111360",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111360",
            "name": "glomerulonephritis with sparse hair and telangiectases",
            "description": ""
        },
        {
            "id": "DOID:0111360",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111360",
            "name": "HLT-renal defect syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111360",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111360",
            "name": "HLTRS",
            "description": ""
        },
        {
            "id": "DOID:0111360",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111360",
            "name": "telangiectatic membranoproliferative glomerulonephritis",
            "description": ""
        },
        {
            "id": "DOID:0111360",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111360",
            "name": "hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0019073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019073",
            "name": "hypotrichosis-lymphedema-telangiectasia-renal defect syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0019073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019073",
            "name": "hypotrichosis-lymphedema-telangiectasia-renal defect syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0019073",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019073",
            "name": "HLTRS",
            "description": ""
        },
        {
            "id": "MIM:137940",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/137940",
            "name": "Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome",
            "description": "Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111360"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111360",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111360",
            "categories": []
        },
        {
            "id": "MONDO:0019073",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0019073",
            "categories": []
        },
        {
            "id": "MIM:137940",
            "database": "MIM",
            "url": "https://www.omim.org/entry/137940",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F9I2-1",
            "uniprot_ac": "E7F9I2",
            "uniprot_id": "E7F9I2_DANRE",
            "refseq_ac": "XP_017209261",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor Sox-18",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor Sox-18",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sox18",
                    "type": "recommended"
                },
                {
                    "name": "sox18",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F9I2-1",
            "evidence": [
                {
                    "id": "0111360",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111360"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43680-1",
            "uniprot_ac": "P43680",
            "uniprot_id": "SOX18_MOUSE",
            "refseq_ac": "NP_033262",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor SOX-18",
                    "type": "recommended"
                },
                {
                    "name": "SRY-box containing gene 18",
                    "type": "synonym"
                },
                {
                    "name": "Sry-related HMG-box gene 18",
                    "type": "synonym"
                },
                {
                    "name": "ragged",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor SOX-18",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sox18",
                    "type": "recommended"
                },
                {
                    "name": "Ragl",
                    "type": "synonym"
                },
                {
                    "name": "Ra",
                    "type": "synonym"
                },
                {
                    "name": "Sox-18",
                    "type": "synonym"
                },
                {
                    "name": "Sox18",
                    "type": "synonym"
                }
            ],
            "record_id": "P43680-1",
            "evidence": [
                {
                    "id": "0111360",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111360"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35713-1",
            "uniprot_ac": "P35713",
            "uniprot_id": "SOX18_HUMAN",
            "refseq_ac": "NP_060889",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor SOX-18",
                    "type": "recommended"
                },
                {
                    "name": "SRY (sex determining region Y)-box 18",
                    "type": "synonym"
                },
                {
                    "name": "SRY-box 18",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor SOX-18",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SOX18",
                    "type": "recommended"
                },
                {
                    "name": "HLTRS",
                    "type": "synonym"
                },
                {
                    "name": "HLTS",
                    "type": "synonym"
                },
                {
                    "name": "SOX18",
                    "type": "synonym"
                }
            ],
            "record_id": "P35713-1",
            "evidence": [
                {
                    "id": "137940",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/137940"
                },
                {
                    "id": "0111360",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111360"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4V7E4-1",
            "uniprot_ac": "Q4V7E4",
            "uniprot_id": "Q4V7E4_RAT",
            "refseq_ac": "NP_001019952",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SRY (sex determining region Y)-box 18",
                    "type": "synonym"
                },
                {
                    "name": "SRY box 18",
                    "type": "synonym"
                },
                {
                    "name": "SRY-box containing gene 18",
                    "type": "synonym"
                },
                {
                    "name": "SRY-box transcription factor 18",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor SOX-18",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sox18",
                    "type": "recommended"
                },
                {
                    "name": "Sox18",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4V7E4-1",
            "evidence": [
                {
                    "id": "0111360",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111360"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40657-1",
            "uniprot_ac": "P40657",
            "uniprot_id": "SOX15_DROME",
            "refseq_ac": "NP_523739",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative transcription factor SOX-15",
                    "type": "recommended"
                },
                {
                    "name": "CG8404-PA",
                    "type": "synonym"
                },
                {
                    "name": "Sox box protein 15",
                    "type": "synonym"
                },
                {
                    "name": "Sox15-PA",
                    "type": "synonym"
                },
                {
                    "name": "Sox50E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sox15",
                    "type": "recommended"
                },
                {
                    "name": "CG13945",
                    "type": "synonym"
                },
                {
                    "name": "CG8404",
                    "type": "synonym"
                },
                {
                    "name": "DSox-15",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8404",
                    "type": "synonym"
                },
                {
                    "name": "Dsox-15",
                    "type": "synonym"
                },
                {
                    "name": "SOX15",
                    "type": "synonym"
                },
                {
                    "name": "SOX50E",
                    "type": "synonym"
                },
                {
                    "name": "SOXF",
                    "type": "synonym"
                },
                {
                    "name": "Sox F",
                    "type": "synonym"
                },
                {
                    "name": "Sox15",
                    "type": "synonym"
                },
                {
                    "name": "Sox50E",
                    "type": "synonym"
                },
                {
                    "name": "SoxE",
                    "type": "synonym"
                },
                {
                    "name": "SoxF",
                    "type": "synonym"
                },
                {
                    "name": "sox15",
                    "type": "synonym"
                }
            ],
            "record_id": "P40657-1",
            "evidence": [
                {
                    "id": "0111360",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111360"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111360"
}