{
    "disease_id": "DOID:0061152",
    "recommended_name": {
        "id": "DOID:0061152",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061152",
        "name": "monilethrix 2",
        "description": "A hair disease that is characterized by a 'beaded' appearance of affected hairs on microscopy, caused by elliptical nodes of normal thickness alternating with narrow, dystrophic constrictions and that has_material_basis_in heterozygous mutation in the KRT81 gene on chromosome 12q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0700341",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700341",
            "name": "monilethrix-2",
            "description": ""
        },
        {
            "id": "MIM:621169",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/621169",
            "name": "Monilethrix 2",
            "description": "Monilethrix 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061152"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061152",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061152",
            "categories": []
        },
        {
            "id": "MONDO:0700341",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700341",
            "categories": []
        },
        {
            "id": "MIM:621169",
            "database": "MIM",
            "url": "https://www.omim.org/entry/621169",
            "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": "0061152",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061152"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ERE2-1",
            "uniprot_ac": "Q9ERE2",
            "uniprot_id": "KRT81_MOUSE",
            "refseq_ac": "NP_001159629",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Keratin, type II cuticular Hb1",
                    "type": "recommended"
                },
                {
                    "name": "K81",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-81",
                    "type": "synonym"
                },
                {
                    "name": "Type II hair keratin Hb1",
                    "type": "synonym"
                },
                {
                    "name": "keratin complex 2, basic, gene 19",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type II cuticular Hb1",
                    "type": "synonym"
                },
                {
                    "name": "type II hair keratin Hb1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Krt81",
                    "type": "recommended"
                },
                {
                    "name": "Krt2-19",
                    "type": "synonym"
                },
                {
                    "name": "Krt81",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ERE2-1",
            "evidence": [
                {
                    "id": "0061152",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061152"
                }
            ]
        },
        {
            "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": "0061152",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061152"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14533-1",
            "uniprot_ac": "Q14533",
            "uniprot_id": "KRT81_HUMAN",
            "refseq_ac": "NP_002272",
            "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 Hb1",
                    "type": "recommended"
                },
                {
                    "name": "Hair keratin K2.9",
                    "type": "synonym"
                },
                {
                    "name": "K81",
                    "type": "synonym"
                },
                {
                    "name": "Keratin, hair, basic, 1",
                    "type": "synonym"
                },
                {
                    "name": "Keratin-81",
                    "type": "synonym"
                },
                {
                    "name": "MLN 137",
                    "type": "synonym"
                },
                {
                    "name": "Metastatic lymph node 137 gene protein",
                    "type": "synonym"
                },
                {
                    "name": "Type II hair keratin Hb1",
                    "type": "synonym"
                },
                {
                    "name": "Type-II keratin Kb21",
                    "type": "synonym"
                },
                {
                    "name": "ghHKb1",
                    "type": "synonym"
                },
                {
                    "name": "ghHb1",
                    "type": "synonym"
                },
                {
                    "name": "hHb1",
                    "type": "synonym"
                },
                {
                    "name": "hair keratin K2.9",
                    "type": "synonym"
                },
                {
                    "name": "hard keratin, type II, 1",
                    "type": "synonym"
                },
                {
                    "name": "keratin 81, type II",
                    "type": "synonym"
                },
                {
                    "name": "keratin, hair, basic, 1",
                    "type": "synonym"
                },
                {
                    "name": "keratin, type II cuticular Hb1",
                    "type": "synonym"
                },
                {
                    "name": "metastatic lymph node 137 gene protein",
                    "type": "synonym"
                },
                {
                    "name": "type II hair keratin Hb1",
                    "type": "synonym"
                },
                {
                    "name": "type-II keratin Kb21",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KRT81",
                    "type": "recommended"
                },
                {
                    "name": "HB1",
                    "type": "synonym"
                },
                {
                    "name": "Hb-1",
                    "type": "synonym"
                },
                {
                    "name": "K81",
                    "type": "synonym"
                },
                {
                    "name": "KRT81",
                    "type": "synonym"
                },
                {
                    "name": "KRTHB1",
                    "type": "synonym"
                },
                {
                    "name": "MLN137",
                    "type": "synonym"
                },
                {
                    "name": "MNLIX2",
                    "type": "synonym"
                },
                {
                    "name": "ghHkb1",
                    "type": "synonym"
                },
                {
                    "name": "hHAKB2-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14533-1",
            "evidence": [
                {
                    "id": "621169",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/621169"
                },
                {
                    "id": "0061152",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061152"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061152"
}