{
    "disease_id": "DOID:0061153",
    "recommended_name": {
        "id": "DOID:0061153",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061153",
        "name": "monilethrix 3",
        "description": "A hair disease that is characterized by periodic narrowing ('beading') along the hair shaft visible on microscopy and that has_material_basis_in heterozygous mutation in the KRT83 gene on chromosome 12q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0700342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700342",
            "name": "monilethrix-3",
            "description": ""
        },
        {
            "id": "MIM:621170",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/621170",
            "name": "Monilethrix 3",
            "description": "Monilethrix 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061153"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061153",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061153",
            "categories": []
        },
        {
            "id": "MONDO:0700342",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700342",
            "categories": []
        },
        {
            "id": "MIM:621170",
            "database": "MIM",
            "url": "https://www.omim.org/entry/621170",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PYS6-1",
            "uniprot_ac": "A0A8M9PYS6",
            "uniprot_id": "A0A8M9PYS6_DANRE",
            "refseq_ac": "XP_021336562",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wu:fj22d03",
                    "type": "recommended"
                },
                {
                    "name": "fj22d03",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj22d03",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136930",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PYS6-1",
            "evidence": [
                {
                    "id": "0061153",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061153"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9Q1Y9-1",
            "uniprot_ac": "E9Q1Y9",
            "uniprot_id": "E9Q1Y9_MOUSE",
            "refseq_ac": "NP_001188252",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin 83",
                    "type": "synonym"
                },
                {
                    "name": "keratin type II",
                    "type": "synonym"
                },
                {
                    "name": "type II hair keratin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Krt83",
                    "type": "recommended"
                },
                {
                    "name": "5430421N21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Krt83",
                    "type": "synonym"
                }
            ],
            "record_id": "E9Q1Y9-1",
            "evidence": [
                {
                    "id": "0061153",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061153"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6IMF0-1",
            "uniprot_ac": "Q6IMF0",
            "uniprot_id": "KRT87_MOUSE",
            "refseq_ac": "NP_001003668",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin, type II cuticular 87",
                    "type": "recommended"
                },
                {
                    "name": "K87",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-87",
                    "type": "synonym"
                },
                {
                    "name": "keratin complex 2, basic, gene 25",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type II cuticular 87",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type II cuticular Hb3",
                    "type": "synonym"
                },
                {
                    "name": "keratin-83",
                    "type": "synonym"
                },
                {
                    "name": "type II hair keratin Hb3",
                    "type": "synonym"
                },
                {
                    "name": "type-II keratin Kb23",
                    "type": "synonym"
                },
                {
                    "name": "type-II keratin Kb25",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Krt87",
                    "type": "recommended"
                },
                {
                    "name": "K83",
                    "type": "synonym"
                },
                {
                    "name": "K87",
                    "type": "synonym"
                },
                {
                    "name": "Kb25",
                    "type": "synonym"
                },
                {
                    "name": "Krt2-25",
                    "type": "synonym"
                },
                {
                    "name": "Krt83",
                    "type": "synonym"
                },
                {
                    "name": "Krt87",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6IMF0-1",
            "evidence": [
                {
                    "id": "0061153",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061153"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P78385-1",
            "uniprot_ac": "P78385",
            "uniprot_id": "KRT83_HUMAN",
            "refseq_ac": "NP_002273",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin, type II cuticular Hb3",
                    "type": "recommended"
                },
                {
                    "name": "Hair keratin K2.10",
                    "type": "synonym"
                },
                {
                    "name": "K83",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-83",
                    "type": "synonym"
                },
                {
                    "name": "Type II hair keratin Hb3",
                    "type": "synonym"
                },
                {
                    "name": "Type-II keratin Kb23",
                    "type": "synonym"
                },
                {
                    "name": "hHb3",
                    "type": "synonym"
                },
                {
                    "name": "hair keratin K2.10",
                    "type": "synonym"
                },
                {
                    "name": "hard keratin, type II, 3",
                    "type": "synonym"
                },
                {
                    "name": "keratin 83, type II",
                    "type": "synonym"
                },
                {
                    "name": "keratin, hair, basic, 3",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type II cuticular Hb3",
                    "type": "synonym"
                },
                {
                    "name": "type II hair keratin Hb3",
                    "type": "synonym"
                },
                {
                    "name": "type-II keratin Kb23",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KRT83",
                    "type": "recommended"
                },
                {
                    "name": "EKVP5",
                    "type": "synonym"
                },
                {
                    "name": "HB3",
                    "type": "synonym"
                },
                {
                    "name": "Hb-3",
                    "type": "synonym"
                },
                {
                    "name": "KRT83",
                    "type": "synonym"
                },
                {
                    "name": "KRTHB3",
                    "type": "synonym"
                },
                {
                    "name": "MNLIX3",
                    "type": "synonym"
                },
                {
                    "name": "MNLIX",
                    "type": "synonym"
                }
            ],
            "record_id": "P78385-1",
            "evidence": [
                {
                    "id": "621170",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621170"
                },
                {
                    "id": "0061153",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061153"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061153"
}