{
    "disease_id": "DOID:0110953",
    "recommended_name": {
        "id": "DOID:0110953",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110953",
        "name": "Waardenburg syndrome type 4A",
        "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 heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110953",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110953",
            "name": "WS4A",
            "description": ""
        },
        {
            "id": "DOID:0110953",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110953",
            "name": "Waardenburg syndrome type IVA",
            "description": ""
        },
        {
            "id": "DOID:0110953",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110953",
            "name": "Waardenburg syndrome with Hirschsprung disease type 4A",
            "description": ""
        },
        {
            "id": "MONDO:0010192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010192",
            "name": "Waardenburg syndrome type 4A",
            "description": "A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDNRB."
        },
        {
            "id": "MONDO:0010192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010192",
            "name": "EDNRB Waardenburg syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010192",
            "name": "WS4A",
            "description": ""
        },
        {
            "id": "MONDO:0010192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010192",
            "name": "Waardenburg syndrome caused by mutation in EDNRB",
            "description": ""
        },
        {
            "id": "MONDO:0010192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010192",
            "name": "Waardenburg syndrome type 4A",
            "description": ""
        },
        {
            "id": "MONDO:0010192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010192",
            "name": "Waardenburg syndrome, type 4A",
            "description": ""
        },
        {
            "id": "MONDO:0010192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010192",
            "name": "Waardenburg-Shah syndrome",
            "description": ""
        },
        {
            "id": "MIM:277580",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/277580",
            "name": "Waardenburg syndrome 4A",
            "description": "Waardenburg syndrome 4A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110953"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110953",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110953",
            "categories": []
        },
        {
            "id": "MONDO:0010192",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010192",
            "categories": []
        },
        {
            "id": "MIM:277580",
            "database": "MIM",
            "url": "https://www.omim.org/entry/277580",
            "categories": []
        }
    ],
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            "uniprot_ac": "A0AB32TTH1",
            "uniprot_id": "A0AB32TTH1_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endothelin receptor type B",
                    "type": "recommended"
                },
                {
                    "name": "Endothelin receptor non-selective type",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ednrba",
                    "type": "recommended"
                },
                {
                    "name": "ednrb1a",
                    "type": "synonym"
                },
                {
                    "name": "ednrb1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TTH1-1",
            "evidence": [
                {
                    "id": "0110953",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110953"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48302-1",
            "uniprot_ac": "P48302",
            "uniprot_id": "EDNRB_MOUSE",
            "refseq_ac": "NP_001129533",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endothelin receptor type B",
                    "type": "recommended"
                },
                {
                    "name": "ET-BR",
                    "type": "synonym"
                },
                {
                    "name": "ET-B",
                    "type": "synonym"
                },
                {
                    "name": "Endothelin receptor non-selective type",
                    "type": "synonym"
                },
                {
                    "name": "endothelin B receptor",
                    "type": "synonym"
                },
                {
                    "name": "endothelin receptor non-selective type",
                    "type": "synonym"
                },
                {
                    "name": "endothelin receptor type B isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "piebald",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ednrb",
                    "type": "recommended"
                },
                {
                    "name": "ET-BR",
                    "type": "synonym"
                },
                {
                    "name": "ET-B",
                    "type": "synonym"
                },
                {
                    "name": "ETR-b",
                    "type": "synonym"
                },
                {
                    "name": "ETb",
                    "type": "synonym"
                },
                {
                    "name": "Ednrb",
                    "type": "synonym"
                },
                {
                    "name": "Sox10m1",
                    "type": "synonym"
                }
            ],
            "record_id": "P48302-1",
            "evidence": [
                {
                    "id": "0110953",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110953"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P24530-1",
            "uniprot_ac": "P24530",
            "uniprot_id": "EDNRB_HUMAN",
            "refseq_ac": "NP_000106",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endothelin receptor type B",
                    "type": "recommended"
                },
                {
                    "name": "ET-BR",
                    "type": "synonym"
                },
                {
                    "name": "ET-B",
                    "type": "synonym"
                },
                {
                    "name": "Endothelin receptor non-selective type",
                    "type": "synonym"
                },
                {
                    "name": "Hirschsprung disease 2",
                    "type": "synonym"
                },
                {
                    "name": "endothelin receptor non-selective type",
                    "type": "synonym"
                },
                {
                    "name": "endothelin receptor subtype B1",
                    "type": "synonym"
                },
                {
                    "name": "endothelin receptor type B isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EDNRB",
                    "type": "recommended"
                },
                {
                    "name": "ABCDS",
                    "type": "synonym"
                },
                {
                    "name": "EDNRB",
                    "type": "synonym"
                },
                {
                    "name": "ET-BR",
                    "type": "synonym"
                },
                {
                    "name": "ET-B",
                    "type": "synonym"
                },
                {
                    "name": "ETB1",
                    "type": "synonym"
                },
                {
                    "name": "ETBR",
                    "type": "synonym"
                },
                {
                    "name": "ETB",
                    "type": "synonym"
                },
                {
                    "name": "ETRB",
                    "type": "synonym"
                },
                {
                    "name": "HSCR2",
                    "type": "synonym"
                },
                {
                    "name": "HSCR",
                    "type": "synonym"
                },
                {
                    "name": "WS4A",
                    "type": "synonym"
                }
            ],
            "record_id": "P24530-1",
            "evidence": [
                {
                    "id": "277580",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/277580"
                },
                {
                    "id": "0110953",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110953"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21451-1",
            "uniprot_ac": "P21451",
            "uniprot_id": "EDNRB_RAT",
            "refseq_ac": "NP_059029",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endothelin receptor type B",
                    "type": "recommended"
                },
                {
                    "name": "ET-BR",
                    "type": "synonym"
                },
                {
                    "name": "ET-B",
                    "type": "synonym"
                },
                {
                    "name": "Endothelin receptor non-selective type",
                    "type": "synonym"
                },
                {
                    "name": "endothelin B receptor",
                    "type": "synonym"
                },
                {
                    "name": "endothelin receptor non-selective type",
                    "type": "synonym"
                },
                {
                    "name": "endothelin receptor type B precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ednrb",
                    "type": "recommended"
                },
                {
                    "name": "Ednra",
                    "type": "synonym"
                },
                {
                    "name": "Ednrb",
                    "type": "synonym"
                },
                {
                    "name": "Etb",
                    "type": "synonym"
                }
            ],
            "record_id": "P21451-1",
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                {
                    "id": "0110953",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110953"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70215-1",
            "uniprot_ac": "O70215",
            "uniprot_id": "NKG2D_RAT",
            "refseq_ac": "NP_598196",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "NKG2-D type II integral membrane protein",
                    "type": "recommended"
                },
                {
                    "name": "Killer cell lectin-like receptor subfamily K member 1",
                    "type": "synonym"
                },
                {
                    "name": "NK cell receptor D",
                    "type": "synonym"
                },
                {
                    "name": "NK lectin-like receptor",
                    "type": "synonym"
                },
                {
                    "name": "NKG2-D type II integral membrane protein",
                    "type": "synonym"
                },
                {
                    "name": "NKG2-D-activating NK receptor",
                    "type": "synonym"
                },
                {
                    "name": "NKLLR",
                    "type": "synonym"
                },
                {
                    "name": "NKR-P2, ortholog of human NKG2D",
                    "type": "synonym"
                },
                {
                    "name": "NKR-P2",
                    "type": "synonym"
                },
                {
                    "name": "killer cell lectin-like receptor subfamily K, member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Klrk1",
                    "type": "recommended"
                },
                {
                    "name": "Klrk1",
                    "type": "synonym"
                },
                {
                    "name": "NKG2D",
                    "type": "synonym"
                },
                {
                    "name": "Nkg2d",
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                {
                    "name": "Nkrp2",
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                    "id": "0110953",
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        {
            "uniprot_canonical_ac": "P43235-1",
            "uniprot_ac": "P43235",
            "uniprot_id": "CATK_HUMAN",
            "refseq_ac": "NP_000387",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cathepsin K",
                    "type": "recommended"
                },
                {
                    "name": "3.4.22.38",
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                },
                {
                    "name": "Cathepsin O2",
                    "type": "synonym"
                },
                {
                    "name": "Cathepsin O",
                    "type": "synonym"
                },
                {
                    "name": "Cathepsin X",
                    "type": "synonym"
                },
                {
                    "name": "cathepsin K preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "cathepsin O1",
                    "type": "synonym"
                },
                {
                    "name": "cathepsin O2",
                    "type": "synonym"
                },
                {
                    "name": "cathepsin X",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CTSK",
                    "type": "recommended"
                },
                {
                    "name": "CTS02",
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                },
                {
                    "name": "CTSK",
                    "type": "synonym"
                },
                {
                    "name": "CTSO1",
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                },
                {
                    "name": "CTSO2",
                    "type": "synonym"
                },
                {
                    "name": "CTSO",
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                },
                {
                    "name": "PKND",
                    "type": "synonym"
                },
                {
                    "name": "PYCD",
                    "type": "synonym"
                }
            ],
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                    "id": "0110953",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110953"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110953"
}