{
    "disease_id": "DOID:0111528",
    "recommended_name": {
        "id": "DOID:0111528",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111528",
        "name": "Naegeli-Franceschetti-Jadassohn syndrome",
        "description": "A ectodermal dysplasia characterized by reticulate hyperpigmentation that made fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111528",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111528",
            "name": "NFJ syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111528",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111528",
            "name": "Naegeli syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008059",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008059",
            "name": "Naegeli-Franceschetti-Jadassohn syndrome",
            "description": "Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth."
        },
        {
            "id": "MONDO:0008059",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008059",
            "name": "NFJ syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008059",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008059",
            "name": "Naegeli syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008059",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008059",
            "name": "Naegeli-Franceschetti-Jadassohn syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008059",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008059",
            "name": "NFJS",
            "description": ""
        },
        {
            "id": "MONDO:0008059",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008059",
            "name": "reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy",
            "description": ""
        },
        {
            "id": "MIM:161000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/161000",
            "name": "Naegeli-Franceschetti-Jadassohn syndrome",
            "description": "Naegeli-Franceschetti-Jadassohn syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111528"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111528",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111528",
            "categories": []
        },
        {
            "id": "MONDO:0008059",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008059",
            "categories": []
        },
        {
            "id": "MIM:161000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/161000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1NXG3-1",
            "uniprot_ac": "A0A8M1NXG3",
            "uniprot_id": "A0A8M1NXG3_DANRE",
            "refseq_ac": "NP_001186881",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin 96",
                    "type": "synonym"
                },
                {
                    "name": "keratin 96",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "krt96",
                    "type": "recommended"
                },
                {
                    "name": "fb17f05",
                    "type": "synonym"
                },
                {
                    "name": "krt96",
                    "type": "synonym"
                },
                {
                    "name": "si:rp71-1n18.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb17f05",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NXG3-1",
            "evidence": [
                {
                    "id": "0111528",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111528"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1N5Q5-1",
            "uniprot_ac": "A0A8M1N5Q5",
            "uniprot_id": "A0A8M1N5Q5_DANRE",
            "refseq_ac": "NP_001017824",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin 92",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin-like",
                    "type": "synonym"
                },
                {
                    "name": "keratin 92",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "krt92",
                    "type": "recommended"
                },
                {
                    "name": "krt92",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-113d7.5",
                    "type": "synonym"
                },
                {
                    "name": "zgc:109868",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136388",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N5Q5-1",
            "evidence": [
                {
                    "id": "0111528",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111528"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61781-1",
            "uniprot_ac": "Q61781",
            "uniprot_id": "K1C14_MOUSE",
            "refseq_ac": "NP_001300886",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin, type I cytoskeletal 14",
                    "type": "recommended"
                },
                {
                    "name": "CK-14",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-14",
                    "type": "synonym"
                },
                {
                    "name": "K14",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-14",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin 14",
                    "type": "synonym"
                },
                {
                    "name": "keratin complex 1, acidic, gene 14",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type I cytoskeletal 14 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type I cytoskeletal 14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Krt14",
                    "type": "recommended"
                },
                {
                    "name": "CK-14",
                    "type": "synonym"
                },
                {
                    "name": "K14",
                    "type": "synonym"
                },
                {
                    "name": "Krt-1.14",
                    "type": "synonym"
                },
                {
                    "name": "Krt1-14",
                    "type": "synonym"
                },
                {
                    "name": "Krt14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61781-1",
            "evidence": [
                {
                    "id": "0111528",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111528"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02533-1",
            "uniprot_ac": "P02533",
            "uniprot_id": "K1C14_HUMAN",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin, type I cytoskeletal 14",
                    "type": "recommended"
                },
                {
                    "name": "CK-14",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-14",
                    "type": "synonym"
                },
                {
                    "name": "K14",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KRT14",
                    "type": "recommended"
                }
            ],
            "record_id": "P02533-1",
            "evidence": [
                {
                    "id": "161000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/161000"
                },
                {
                    "id": "0111528",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111528"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6IFV1-1",
            "uniprot_ac": "Q6IFV1",
            "uniprot_id": "K1C14_RAT",
            "refseq_ac": "NP_001008751",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin, type I cytoskeletal 14",
                    "type": "recommended"
                },
                {
                    "name": "CK-14",
                    "type": "synonym"
                },
                {
                    "name": "Cytokeratin-14",
                    "type": "synonym"
                },
                {
                    "name": "K14",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-14",
                    "type": "synonym"
                },
                {
                    "name": "Type I keratin Ka14",
                    "type": "synonym"
                },
                {
                    "name": "cytokeratin-14",
                    "type": "synonym"
                },
                {
                    "name": "keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)",
                    "type": "synonym"
                },
                {
                    "name": "keratin 14, type I",
                    "type": "synonym"
                },
                {
                    "name": "keratin complex 1, acidic, gene 14",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type I cytoskeletal 14",
                    "type": "synonym"
                },
                {
                    "name": "type I keratin Ka14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Krt14",
                    "type": "recommended"
                },
                {
                    "name": "Ka14",
                    "type": "synonym"
                },
                {
                    "name": "Krt1-14",
                    "type": "synonym"
                },
                {
                    "name": "Krt14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6IFV1-1",
            "evidence": [
                {
                    "id": "0111528",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111528"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111528"
}