{
    "disease_id": "DOID:0110709",
    "recommended_name": {
        "id": "DOID:0110709",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110709",
        "name": "hypotrichosis 12",
        "description": "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the RPL21 gene on chromosome 13q12.2."
    },
    "synonyms": [
        {
            "id": "DOID:0110709",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110709",
            "name": "HYPT12",
            "description": ""
        },
        {
            "id": "MONDO:0014384",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014384",
            "name": "hypotrichosis 12",
            "description": "Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene."
        },
        {
            "id": "MONDO:0014384",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014384",
            "name": "HYPT12",
            "description": ""
        },
        {
            "id": "MONDO:0014384",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014384",
            "name": "RPL21 hypotrichosis",
            "description": ""
        },
        {
            "id": "MONDO:0014384",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014384",
            "name": "hypotrichosis 12",
            "description": ""
        },
        {
            "id": "MONDO:0014384",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014384",
            "name": "hypotrichosis caused by mutation in RPL21",
            "description": ""
        },
        {
            "id": "MONDO:0014384",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014384",
            "name": "hypotrichosis type 12",
            "description": ""
        },
        {
            "id": "MONDO:0014384",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014384",
            "name": "hypt12",
            "description": ""
        },
        {
            "id": "MIM:615885",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615885",
            "name": "Hypotrichosis 12",
            "description": "Hypotrichosis 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110709"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110709",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110709",
            "categories": []
        },
        {
            "id": "MONDO:0014384",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014384",
            "categories": []
        },
        {
            "id": "MIM:615885",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615885",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O09167-1",
            "uniprot_ac": "O09167",
            "uniprot_id": "RL21_MOUSE",
            "refseq_ac": "NP_062621",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein eL21",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L21",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein eL21",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rpl21",
                    "type": "recommended"
                },
                {
                    "name": "8430440E03Rik",
                    "type": "synonym"
                },
                {
                    "name": "L21",
                    "type": "synonym"
                },
                {
                    "name": "Rpl21",
                    "type": "synonym"
                }
            ],
            "record_id": "O09167-1",
            "evidence": [
                {
                    "id": "0110709",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110709"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46778-1",
            "uniprot_ac": "P46778",
            "uniprot_id": "RL21_HUMAN",
            "refseq_ac": "NP_000973",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein eL21",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L21",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein eL21",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPL21",
                    "type": "recommended"
                },
                {
                    "name": "HYPT12",
                    "type": "synonym"
                },
                {
                    "name": "L21",
                    "type": "synonym"
                },
                {
                    "name": "RPL21",
                    "type": "synonym"
                },
                {
                    "name": "eL21",
                    "type": "synonym"
                }
            ],
            "record_id": "P46778-1",
            "evidence": [
                {
                    "id": "615885",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615885"
                },
                {
                    "id": "0110709",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110709"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12672-1",
            "uniprot_ac": "Q12672",
            "uniprot_id": "RL21B_YEAST",
            "refseq_ac": "NP_015246",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein eL21B",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L21-B",
                    "type": "synonym"
                },
                {
                    "name": "60S ribosomal protein eL21 RPL21B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPL21B",
                    "type": "recommended"
                },
                {
                    "name": "LPF6W",
                    "type": "synonym"
                },
                {
                    "name": "RPL21B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12672-1",
            "evidence": [
                {
                    "id": "0110709",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110709"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02753-1",
            "uniprot_ac": "Q02753",
            "uniprot_id": "RL21A_YEAST",
            "refseq_ac": "NP_009750",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein eL21A",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L21-A",
                    "type": "synonym"
                },
                {
                    "name": "60S ribosomal protein eL21 RPL21A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPL21A",
                    "type": "recommended"
                },
                {
                    "name": "RPL21A",
                    "type": "synonym"
                },
                {
                    "name": "URP1",
                    "type": "synonym"
                },
                {
                    "name": "YBR1401",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02753-1",
            "evidence": [
                {
                    "id": "0110709",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110709"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20280-1",
            "uniprot_ac": "P20280",
            "uniprot_id": "RL21_RAT",
            "refseq_ac": "NP_445782",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein eL21",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L21",
                    "type": "synonym"
                },
                {
                    "name": "large ribosomal subunit protein eL21",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rpl21",
                    "type": "recommended"
                },
                {
                    "name": "Rpl21",
                    "type": "synonym"
                }
            ],
            "record_id": "P20280-1",
            "evidence": [
                {
                    "id": "0110709",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110709"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V9M7-1",
            "uniprot_ac": "Q9V9M7",
            "uniprot_id": "Q9V9M7_DROME",
            "refseq_ac": "NP_001260689",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Large ribosomal subunit protein eL21",
                    "type": "recommended"
                },
                {
                    "name": "60S ribosomal protein L21",
                    "type": "synonym"
                },
                {
                    "name": "CG12775-PB",
                    "type": "synonym"
                },
                {
                    "name": "RpL21-PB",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal protein L21, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RpL21",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:RH06526",
                    "type": "synonym"
                },
                {
                    "name": "CG12775",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12775",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12775",
                    "type": "synonym"
                },
                {
                    "name": "L21e",
                    "type": "synonym"
                },
                {
                    "name": "RPL21",
                    "type": "synonym"
                },
                {
                    "name": "Rp L21",
                    "type": "synonym"
                },
                {
                    "name": "RpL21",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey18",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey30",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V9M7-1",
            "evidence": [
                {
                    "id": "0110709",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110709"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110709"
}