{
    "disease_id": "DOID:0110954",
    "recommended_name": {
        "id": "DOID:0110954",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110954",
        "name": "Waardenburg syndrome type 4B",
        "description": "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110954",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110954",
            "name": "WS4B",
            "description": ""
        },
        {
            "id": "DOID:0110954",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110954",
            "name": "Waardenburg syndrome type IVB",
            "description": ""
        },
        {
            "id": "DOID:0110954",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110954",
            "name": "Waardenburg syndrome with Hirschsprung disease type 4B",
            "description": ""
        },
        {
            "id": "MONDO:0013201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013201",
            "name": "Waardenburg syndrome type 4B",
            "description": "A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDN3."
        },
        {
            "id": "MONDO:0013201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013201",
            "name": "EDN3 Waardenburg syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013201",
            "name": "WS4B",
            "description": ""
        },
        {
            "id": "MONDO:0013201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013201",
            "name": "Waardenburg syndrome caused by mutation in EDN3",
            "description": ""
        },
        {
            "id": "MONDO:0013201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013201",
            "name": "Waardenburg syndrome type 4B",
            "description": ""
        },
        {
            "id": "MONDO:0013201",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013201",
            "name": "Waardenburg syndrome, type 4B",
            "description": ""
        },
        {
            "id": "MIM:613265",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613265",
            "name": "Waardenburg syndrome 4B",
            "description": "Waardenburg syndrome 4B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110954"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110954",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110954",
            "categories": []
        },
        {
            "id": "MONDO:0013201",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013201",
            "categories": []
        },
        {
            "id": "MIM:613265",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613265",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58IIJ3-1",
            "uniprot_ac": "A0AC58IIJ3",
            "uniprot_id": "A0AC58IIJ3_DANRE",
            "refseq_ac": "XP_073794020",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endothelin-3",
                    "type": "recommended"
                },
                {
                    "name": "Preproendothelin-3",
                    "type": "synonym"
                },
                {
                    "name": "endothelin-3b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "edn3b",
                    "type": "recommended"
                },
                {
                    "name": "edn3b",
                    "type": "synonym"
                },
                {
                    "name": "edn3",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-211h10.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58IIJ3-1",
            "evidence": [
                {
                    "id": "0110954",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110954"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48299-1",
            "uniprot_ac": "P48299",
            "uniprot_id": "EDN3_MOUSE",
            "refseq_ac": "NP_031929",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endothelin-3",
                    "type": "recommended"
                },
                {
                    "name": "ET-3",
                    "type": "synonym"
                },
                {
                    "name": "PPET3",
                    "type": "synonym"
                },
                {
                    "name": "Preproendothelin-3",
                    "type": "synonym"
                },
                {
                    "name": "endothelin-3 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "preproendothelin-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Edn3",
                    "type": "recommended"
                },
                {
                    "name": "ET-3",
                    "type": "synonym"
                },
                {
                    "name": "Edn3",
                    "type": "synonym"
                },
                {
                    "name": "PPET3",
                    "type": "synonym"
                },
                {
                    "name": "ls",
                    "type": "synonym"
                },
                {
                    "name": "tmgc48",
                    "type": "synonym"
                }
            ],
            "record_id": "P48299-1",
            "evidence": [
                {
                    "id": "0110954",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110954"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14138-1",
            "uniprot_ac": "P14138",
            "uniprot_id": "EDN3_HUMAN",
            "refseq_ac": "NP_001289384",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endothelin-3",
                    "type": "recommended"
                },
                {
                    "name": "ET-3",
                    "type": "synonym"
                },
                {
                    "name": "PPET3",
                    "type": "synonym"
                },
                {
                    "name": "Preproendothelin-3",
                    "type": "synonym"
                },
                {
                    "name": "endothelin-3 isoform 4 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "preproendothelin-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EDN3",
                    "type": "recommended"
                },
                {
                    "name": "EDN3",
                    "type": "synonym"
                },
                {
                    "name": "ET-3",
                    "type": "synonym"
                },
                {
                    "name": "ET3",
                    "type": "synonym"
                },
                {
                    "name": "HSCR4",
                    "type": "synonym"
                },
                {
                    "name": "PPET3",
                    "type": "synonym"
                },
                {
                    "name": "WS4B",
                    "type": "synonym"
                }
            ],
            "record_id": "P14138-1",
            "evidence": [
                {
                    "id": "613265",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613265"
                },
                {
                    "id": "0110954",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110954"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13207-1",
            "uniprot_ac": "P13207",
            "uniprot_id": "EDN3_RAT",
            "refseq_ac": "NP_001071118",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endothelin-3",
                    "type": "recommended"
                },
                {
                    "name": "ET-3",
                    "type": "synonym"
                },
                {
                    "name": "PPET3",
                    "type": "synonym"
                },
                {
                    "name": "Preproendothelin-3",
                    "type": "synonym"
                },
                {
                    "name": "endothelin-3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "preproendothelin-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Edn3",
                    "type": "recommended"
                },
                {
                    "name": "Edn3",
                    "type": "synonym"
                },
                {
                    "name": "Et3",
                    "type": "synonym"
                },
                {
                    "name": "RGD1564825",
                    "type": "synonym"
                },
                {
                    "name": "preproET-3",
                    "type": "synonym"
                }
            ],
            "record_id": "P13207-1",
            "evidence": [
                {
                    "id": "0110954",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110954"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08460-1",
            "uniprot_ac": "P08460",
            "uniprot_id": "NID1_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nidogen-1",
                    "type": "recommended"
                },
                {
                    "name": "Entactin",
                    "type": "synonym"
                },
                {
                    "name": "NID-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nid1",
                    "type": "recommended"
                },
                {
                    "name": "Nid",
                    "type": "synonym"
                }
            ],
            "record_id": "P08460-1",
            "evidence": [
                {
                    "id": "0110954",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110954"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110954"
}