{
    "disease_id": "DOID:0110557",
    "recommended_name": {
        "id": "DOID:0110557",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110557",
        "name": "autosomal dominant nonsyndromic deafness 28",
        "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the GRHL2 gene on chromosome 8q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110557",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110557",
            "name": "DFNA28",
            "description": ""
        },
        {
            "id": "DOID:0110557",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110557",
            "name": "autosomal dominant deafness 28",
            "description": ""
        },
        {
            "id": "MONDO:0012083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012083",
            "name": "autosomal dominant nonsyndromic hearing loss 28",
            "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GRHL2 gene."
        },
        {
            "id": "MONDO:0012083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012083",
            "name": "DFNA28",
            "description": ""
        },
        {
            "id": "MONDO:0012083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012083",
            "name": "GRHL2 autosomal dominant nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0012083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012083",
            "name": "autosomal dominant deafness 28",
            "description": ""
        },
        {
            "id": "MONDO:0012083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012083",
            "name": "autosomal dominant nonsyndromic deafness 28",
            "description": ""
        },
        {
            "id": "MONDO:0012083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012083",
            "name": "autosomal dominant nonsyndromic deafness caused by mutation in GRHL2",
            "description": ""
        },
        {
            "id": "MONDO:0012083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012083",
            "name": "autosomal dominant nonsyndromic deafness type 28",
            "description": ""
        },
        {
            "id": "MONDO:0012083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012083",
            "name": "deafness, autosomal dominant 28",
            "description": ""
        },
        {
            "id": "MONDO:0012083",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012083",
            "name": "deafness, autosomal dominant type 28",
            "description": ""
        },
        {
            "id": "MIM:608641",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608641",
            "name": "Deafness, autosomal dominant, 28",
            "description": "Deafness, autosomal dominant, 28"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110557"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110557",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110557",
            "categories": []
        },
        {
            "id": "MONDO:0012083",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012083",
            "categories": []
        },
        {
            "id": "MIM:608641",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608641",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F8W5L7-1",
            "uniprot_ac": "F8W5L7",
            "uniprot_id": "F8W5L7_DANRE",
            "refseq_ac": "NP_001313462",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Grainyhead-like transcription factor 2a",
                    "type": "synonym"
                },
                {
                    "name": "grainyhead-like 2a",
                    "type": "synonym"
                },
                {
                    "name": "grainyhead-like transcription factor 2a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "grhl2a",
                    "type": "recommended"
                },
                {
                    "name": "grhl2a",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110324",
                    "type": "synonym"
                }
            ],
            "record_id": "F8W5L7-1",
            "evidence": [
                {
                    "id": "0110557",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110557"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K5C0-1",
            "uniprot_ac": "Q8K5C0",
            "uniprot_id": "GRHL2_MOUSE",
            "refseq_ac": "NP_080772",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Grainyhead-like protein 2 homolog",
                    "type": "recommended"
                },
                {
                    "name": "Brother of mammalian grainyhead",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor CP2-like 3",
                    "type": "synonym"
                },
                {
                    "name": "brother of mammalian grainyhead",
                    "type": "synonym"
                },
                {
                    "name": "grainyhead like 2",
                    "type": "synonym"
                },
                {
                    "name": "grainyhead-like 2",
                    "type": "synonym"
                },
                {
                    "name": "grainyhead-like protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "grainyheadlike",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor CP2-like 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grhl2",
                    "type": "recommended"
                },
                {
                    "name": "0610015A08Rik",
                    "type": "synonym"
                },
                {
                    "name": "BOM",
                    "type": "synonym"
                },
                {
                    "name": "Bom",
                    "type": "synonym"
                },
                {
                    "name": "Grhl2",
                    "type": "synonym"
                },
                {
                    "name": "Tcfcp2l3",
                    "type": "synonym"
                },
                {
                    "name": "clft3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K5C0-1",
            "evidence": [
                {
                    "id": "0110557",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110557"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6ISB3-1",
            "uniprot_ac": "Q6ISB3",
            "uniprot_id": "GRHL2_HUMAN",
            "refseq_ac": "NP_001317522",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Grainyhead-like protein 2 homolog",
                    "type": "recommended"
                },
                {
                    "name": "Brother of mammalian grainyhead",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor CP2-like 3",
                    "type": "synonym"
                },
                {
                    "name": "brother of mammalian grainyhead",
                    "type": "synonym"
                },
                {
                    "name": "brother-of-MGR",
                    "type": "synonym"
                },
                {
                    "name": "grainyhead-like 2",
                    "type": "synonym"
                },
                {
                    "name": "grainyhead-like protein 2 homolog isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "grainyhead-like protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor CP2-like 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GRHL2",
                    "type": "recommended"
                },
                {
                    "name": "BOM",
                    "type": "synonym"
                },
                {
                    "name": "DFNA28",
                    "type": "synonym"
                },
                {
                    "name": "ECTDS",
                    "type": "synonym"
                },
                {
                    "name": "GRHL2",
                    "type": "synonym"
                },
                {
                    "name": "PPCD4",
                    "type": "synonym"
                },
                {
                    "name": "TFCP2L3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ISB3-1",
            "evidence": [
                {
                    "id": "608641",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608641"
                },
                {
                    "id": "0110557",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110557"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13002-6",
            "uniprot_ac": "P13002",
            "uniprot_id": "ELF1_DROME",
            "refseq_ac": "NP_001246401",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein grainyhead",
                    "type": "recommended"
                },
                {
                    "name": "CG42311-PO",
                    "type": "synonym"
                },
                {
                    "name": "DNA-binding protein ELF-1",
                    "type": "synonym"
                },
                {
                    "name": "Element I-binding activity",
                    "type": "synonym"
                },
                {
                    "name": "Protein grainy-head",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor NTF-1",
                    "type": "synonym"
                },
                {
                    "name": "decapentaplegic repression element binding protein",
                    "type": "synonym"
                },
                {
                    "name": "element I binding activity",
                    "type": "synonym"
                },
                {
                    "name": "grainy head, isoform O",
                    "type": "synonym"
                },
                {
                    "name": "grainy head",
                    "type": "synonym"
                },
                {
                    "name": "grainyhead",
                    "type": "synonym"
                },
                {
                    "name": "grh-PO",
                    "type": "synonym"
                },
                {
                    "name": "head skeleton",
                    "type": "synonym"
                },
                {
                    "name": "neurogenic element binding transcription factor",
                    "type": "synonym"
                },
                {
                    "name": "neuronal transcription factor 1",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of NA9 2-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "grh",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LD38807",
                    "type": "synonym"
                },
                {
                    "name": "CG30111",
                    "type": "synonym"
                },
                {
                    "name": "CG42311",
                    "type": "synonym"
                },
                {
                    "name": "CG5058",
                    "type": "synonym"
                },
                {
                    "name": "DREB",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42311",
                    "type": "synonym"
                },
                {
                    "name": "EG:191D12.1",
                    "type": "synonym"
                },
                {
                    "name": "ELF1",
                    "type": "synonym"
                },
                {
                    "name": "Elf-1/NTF-1",
                    "type": "synonym"
                },
                {
                    "name": "Elf-1",
                    "type": "synonym"
                },
                {
                    "name": "Elf1",
                    "type": "synonym"
                },
                {
                    "name": "GRH",
                    "type": "synonym"
                },
                {
                    "name": "Gh",
                    "type": "synonym"
                },
                {
                    "name": "Grh",
                    "type": "synonym"
                },
                {
                    "name": "NTF-1/Elf-1",
                    "type": "synonym"
                },
                {
                    "name": "NTF-1",
                    "type": "synonym"
                },
                {
                    "name": "NTF1",
                    "type": "synonym"
                },
                {
                    "name": "NTF",
                    "type": "synonym"
                },
                {
                    "name": "Ntf1",
                    "type": "synonym"
                },
                {
                    "name": "Ntf",
                    "type": "synonym"
                },
                {
                    "name": "SN2-1",
                    "type": "synonym"
                },
                {
                    "name": "elf1(CAG)[[7]]",
                    "type": "synonym"
                },
                {
                    "name": "elf1",
                    "type": "synonym"
                },
                {
                    "name": "grh",
                    "type": "synonym"
                },
                {
                    "name": "hsk",
                    "type": "synonym"
                },
                {
                    "name": "l(2)06850",
                    "type": "synonym"
                },
                {
                    "name": "l(2)IM45",
                    "type": "synonym"
                },
                {
                    "name": "l(2)s2140",
                    "type": "synonym"
                },
                {
                    "name": "ntf-1",
                    "type": "synonym"
                }
            ],
            "record_id": "P13002-6",
            "evidence": [
                {
                    "id": "0110557",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110557"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110557"
}