{
    "disease_id": "DOID:0111336",
    "recommended_name": {
        "id": "DOID:0111336",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111336",
        "name": "craniofacial-deafness-hand syndrome",
        "description": "A syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111336",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111336",
            "name": "CDHS",
            "description": ""
        },
        {
            "id": "DOID:0111336",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111336",
            "name": "Sommer-Young-Wee-Frye syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007395",
            "name": "craniofacial-deafness-hand syndrome",
            "description": "Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome that can be distinguished from the latter by its imaging findings and distinct facial features."
        },
        {
            "id": "MONDO:0007395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007395",
            "name": "CDHS",
            "description": ""
        },
        {
            "id": "MONDO:0007395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007395",
            "name": "Sommer-Young-Wee-Frye syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007395",
            "name": "craniofacial-deafness-hand syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007395",
            "name": "craniofacial deafness hand syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007395",
            "name": "features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss",
            "description": ""
        },
        {
            "id": "MIM:122880",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/122880",
            "name": "Craniofacial-deafness-hand syndrome",
            "description": "Craniofacial-deafness-hand syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111336"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111336",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111336",
            "categories": []
        },
        {
            "id": "MONDO:0007395",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007395",
            "categories": []
        },
        {
            "id": "MIM:122880",
            "database": "MIM",
            "url": "https://www.omim.org/entry/122880",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1Q9S0-1",
            "uniprot_ac": "F1Q9S0",
            "uniprot_id": "F1Q9S0_DANRE",
            "refseq_ac": "NP_001315326",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Paired box protein Pax-3b",
                    "type": "synonym"
                },
                {
                    "name": "paired box gene 3b",
                    "type": "synonym"
                },
                {
                    "name": "paired box protein Pax-3b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pax3b",
                    "type": "recommended"
                },
                {
                    "name": "pax3b",
                    "type": "synonym"
                }
            ],
            "record_id": "F1Q9S0-1",
            "evidence": [
                {
                    "id": "0111336",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111336"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P24610-1",
            "uniprot_ac": "P24610",
            "uniprot_id": "PAX3_MOUSE",
            "refseq_ac": "NP_001152992",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Paired box protein Pax-3",
                    "type": "recommended"
                },
                {
                    "name": "PAX3/FKHR fusion",
                    "type": "synonym"
                },
                {
                    "name": "paired box gene 3",
                    "type": "synonym"
                },
                {
                    "name": "paired box protein Pax-3 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "paired box protein Pax-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pax3",
                    "type": "recommended"
                },
                {
                    "name": "Pax-3",
                    "type": "synonym"
                },
                {
                    "name": "Pax3",
                    "type": "synonym"
                },
                {
                    "name": "Splchl2",
                    "type": "synonym"
                },
                {
                    "name": "Sp",
                    "type": "synonym"
                },
                {
                    "name": "splotch",
                    "type": "synonym"
                }
            ],
            "record_id": "P24610-1",
            "evidence": [
                {
                    "id": "0111336",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111336"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23760-1",
            "uniprot_ac": "P23760",
            "uniprot_id": "PAX3_HUMAN",
            "refseq_ac": "NP_000429",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Paired box protein Pax-3",
                    "type": "recommended"
                },
                {
                    "name": "HuP2",
                    "type": "synonym"
                },
                {
                    "name": "paired box homeotic gene 3",
                    "type": "synonym"
                },
                {
                    "name": "paired box protein Pax-3 isoform PAX3a",
                    "type": "synonym"
                },
                {
                    "name": "paired box protein Pax-3",
                    "type": "synonym"
                },
                {
                    "name": "paired domain gene 3",
                    "type": "synonym"
                },
                {
                    "name": "paired domain gene HuP2",
                    "type": "synonym"
                },
                {
                    "name": "transcriptional factor PAX3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PAX3",
                    "type": "recommended"
                },
                {
                    "name": "CDHS",
                    "type": "synonym"
                },
                {
                    "name": "HUP2",
                    "type": "synonym"
                },
                {
                    "name": "PAX-3",
                    "type": "synonym"
                },
                {
                    "name": "PAX3",
                    "type": "synonym"
                },
                {
                    "name": "WS1",
                    "type": "synonym"
                },
                {
                    "name": "WS3",
                    "type": "synonym"
                }
            ],
            "record_id": "P23760-1",
            "evidence": [
                {
                    "id": "122880",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/122880"
                },
                {
                    "id": "0111336",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111336"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6ATQ4-1",
            "uniprot_ac": "A0A8I6ATQ4",
            "uniprot_id": "A0A8I6ATQ4_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Paired box 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pax3",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6ATQ4-1",
            "evidence": [
                {
                    "id": "0111336",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111336"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09083-1",
            "uniprot_ac": "P09083",
            "uniprot_id": "GSBN_DROME",
            "refseq_ac": "NP_523862",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein gooseberry-neuro",
                    "type": "recommended"
                },
                {
                    "name": "BSH4",
                    "type": "synonym"
                },
                {
                    "name": "CG2692-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein gooseberry proximal",
                    "type": "synonym"
                },
                {
                    "name": "gooseberry neuro",
                    "type": "synonym"
                },
                {
                    "name": "gooseberry proximal",
                    "type": "synonym"
                },
                {
                    "name": "gooseberry-neuro",
                    "type": "synonym"
                },
                {
                    "name": "gsb proximal",
                    "type": "synonym"
                },
                {
                    "name": "gsb-n-PA",
                    "type": "synonym"
                },
                {
                    "name": "gsb-neuro",
                    "type": "synonym"
                },
                {
                    "name": "gsb-proximal",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gsb-n",
                    "type": "recommended"
                },
                {
                    "name": "BSH-4",
                    "type": "synonym"
                },
                {
                    "name": "BSH4",
                    "type": "synonym"
                },
                {
                    "name": "CG2692",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2692",
                    "type": "synonym"
                },
                {
                    "name": "GSB-N",
                    "type": "synonym"
                },
                {
                    "name": "GSBA",
                    "type": "synonym"
                },
                {
                    "name": "Gsb-n",
                    "type": "synonym"
                },
                {
                    "name": "Gsb-p",
                    "type": "synonym"
                },
                {
                    "name": "GsbN",
                    "type": "synonym"
                },
                {
                    "name": "Gsbn",
                    "type": "synonym"
                },
                {
                    "name": "gsb-neuro",
                    "type": "synonym"
                },
                {
                    "name": "gsb-n",
                    "type": "synonym"
                },
                {
                    "name": "gsb-p",
                    "type": "synonym"
                },
                {
                    "name": "gsbN",
                    "type": "synonym"
                },
                {
                    "name": "gsbn",
                    "type": "synonym"
                },
                {
                    "name": "gsbp",
                    "type": "synonym"
                },
                {
                    "name": "gsb",
                    "type": "synonym"
                }
            ],
            "record_id": "P09083-1",
            "evidence": [
                {
                    "id": "0111336",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111336"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06601-1",
            "uniprot_ac": "P06601",
            "uniprot_id": "PRD_DROME",
            "refseq_ac": "NP_523556",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Segmentation protein paired",
                    "type": "recommended"
                },
                {
                    "name": "CG6716-PA",
                    "type": "synonym"
                },
                {
                    "name": "paired, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "paired",
                    "type": "synonym"
                },
                {
                    "name": "prd-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "prd",
                    "type": "recommended"
                },
                {
                    "name": "CG6716",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6716",
                    "type": "synonym"
                },
                {
                    "name": "PRD",
                    "type": "synonym"
                },
                {
                    "name": "Prd",
                    "type": "synonym"
                },
                {
                    "name": "prd",
                    "type": "synonym"
                },
                {
                    "name": "pr",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111336",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111336"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09082-1",
            "uniprot_ac": "P09082",
            "uniprot_id": "GSB_DROME",
            "refseq_ac": "NP_523863",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Protein gooseberry",
                    "type": "recommended"
                },
                {
                    "name": "BSH9",
                    "type": "synonym"
                },
                {
                    "name": "CG3388-PA",
                    "type": "synonym"
                },
                {
                    "name": "Gooseberry-distal",
                    "type": "synonym"
                },
                {
                    "name": "Protein gooseberry distal",
                    "type": "synonym"
                },
                {
                    "name": "gooseberry distal",
                    "type": "synonym"
                },
                {
                    "name": "gooseberry",
                    "type": "synonym"
                },
                {
                    "name": "gsb-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gsb",
                    "type": "recommended"
                },
                {
                    "name": "BSH-9",
                    "type": "synonym"
                },
                {
                    "name": "BSH9c2",
                    "type": "synonym"
                },
                {
                    "name": "BSH9",
                    "type": "synonym"
                },
                {
                    "name": "CG3388",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3388",
                    "type": "synonym"
                },
                {
                    "name": "GSB-D",
                    "type": "synonym"
                },
                {
                    "name": "GSBB",
                    "type": "synonym"
                },
                {
                    "name": "Gsb-d",
                    "type": "synonym"
                },
                {
                    "name": "Gsb",
                    "type": "synonym"
                },
                {
                    "name": "gsb-2",
                    "type": "synonym"
                },
                {
                    "name": "gsb-distal",
                    "type": "synonym"
                },
                {
                    "name": "gsb-d",
                    "type": "synonym"
                },
                {
                    "name": "gsbBSH9",
                    "type": "synonym"
                },
                {
                    "name": "gsbd",
                    "type": "synonym"
                },
                {
                    "name": "gsb",
                    "type": "synonym"
                },
                {
                    "name": "l(2)01155",
                    "type": "synonym"
                },
                {
                    "name": "l(2)gsb",
                    "type": "synonym"
                }
            ],
            "record_id": "P09082-1",
            "evidence": [
                {
                    "id": "0111336",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111336"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111336"
}