{
    "disease_id": "DOID:0111868",
    "recommended_name": {
        "id": "DOID:0111868",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111868",
        "name": "nonphotosensitive trichothiodystrophy 5",
        "description": "A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in the RNF113A gene on chromosome Xq24."
    },
    "synonyms": [
        {
            "id": "DOID:0111868",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111868",
            "name": "TTD5",
            "description": ""
        },
        {
            "id": "MONDO:0010495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010495",
            "name": "trichothiodystrophy 5, nonphotosensitive",
            "description": "Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene."
        },
        {
            "id": "MONDO:0010495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010495",
            "name": "RNF113A nonphotosensitive trichothiodystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0010495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010495",
            "name": "nonphotosensitive trichothiodystrophy caused by mutation in RNF113A",
            "description": ""
        },
        {
            "id": "MONDO:0010495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010495",
            "name": "trichothiodystrophy 5, nonphotosensitive",
            "description": ""
        },
        {
            "id": "MONDO:0010495",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010495",
            "name": "TTD5",
            "description": ""
        },
        {
            "id": "MIM:300953",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300953",
            "name": "Trichothiodystrophy 5, non-photosensitive",
            "description": "Trichothiodystrophy 5, non-photosensitive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111868"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111868",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111868",
            "categories": []
        },
        {
            "id": "MONDO:0010495",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010495",
            "categories": []
        },
        {
            "id": "MIM:300953",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300953",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O15541-1",
            "uniprot_ac": "O15541",
            "uniprot_id": "R113A_HUMAN",
            "refseq_ac": "NP_008909",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "E3 ubiquitin-protein ligase RNF113A",
                    "type": "recommended"
                },
                {
                    "name": "2.3.2.27",
                    "type": "synonym"
                },
                {
                    "name": "Cwc24 homolog",
                    "type": "synonym"
                },
                {
                    "name": "E3 ubiquitin-protein ligase RNF113A",
                    "type": "synonym"
                },
                {
                    "name": "RING finger protein 113A",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger protein 183",
                    "type": "synonym"
                },
                {
                    "name": "cwc24 homolog",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 183 (RING finger, C3HC4 type)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RNF113A",
                    "type": "recommended"
                },
                {
                    "name": "Cwc24",
                    "type": "synonym"
                },
                {
                    "name": "RNF113A",
                    "type": "synonym"
                },
                {
                    "name": "RNF113",
                    "type": "synonym"
                },
                {
                    "name": "TTD5",
                    "type": "synonym"
                },
                {
                    "name": "ZNF183",
                    "type": "synonym"
                }
            ],
            "record_id": "O15541-1",
            "evidence": [
                {
                    "id": "300953",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300953"
                },
                {
                    "id": "0111868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53769-1",
            "uniprot_ac": "P53769",
            "uniprot_id": "CWC24_YEAST",
            "refseq_ac": "NP_013427",
            "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": "Pre-mRNA-splicing factor CWC24",
                    "type": "recommended"
                },
                {
                    "name": "Complexed with CEF1 protein 24",
                    "type": "synonym"
                },
                {
                    "name": "U2-type spliceosomal complex subunit CWC24",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CWC24",
                    "type": "recommended"
                },
                {
                    "name": "CWC24",
                    "type": "synonym"
                },
                {
                    "name": "L8543.3",
                    "type": "synonym"
                }
            ],
            "record_id": "P53769-1",
            "evidence": [
                {
                    "id": "0111868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q67ER1-1",
            "uniprot_ac": "Q67ER1",
            "uniprot_id": "Q67ER1_RAT",
            "refseq_ac": "NP_001004445",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ring finger protein 113A2",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 183 (RING finger, C3HC4 type)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rnf113a2",
                    "type": "recommended"
                },
                {
                    "name": "Rnf113a2",
                    "type": "synonym"
                },
                {
                    "name": "Znf183",
                    "type": "synonym"
                }
            ],
            "record_id": "Q67ER1-1",
            "evidence": [
                {
                    "id": "0111868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63630-1",
            "uniprot_ac": "Q63630",
            "uniprot_id": "RHOX5_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein Rhox5",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein Pem",
                    "type": "synonym"
                },
                {
                    "name": "Placenta and embryonic expression protein",
                    "type": "synonym"
                },
                {
                    "name": "Reproductive homeobox on chromosome X 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufa1",
                    "type": "recommended"
                },
                {
                    "name": "Rhox5",
                    "type": "recommended"
                },
                {
                    "name": "Rnf113a1",
                    "type": "recommended"
                },
                {
                    "name": "Pem",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63630-1",
            "evidence": [
                {
                    "id": "0111868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111868"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VDP8-1",
            "uniprot_ac": "Q9VDP8",
            "uniprot_id": "Q9VDP8_DROME",
            "refseq_ac": "NP_650865",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG4973-PA",
                    "type": "synonym"
                },
                {
                    "name": "Midlife crisis",
                    "type": "synonym"
                },
                {
                    "name": "mdlc-PA",
                    "type": "synonym"
                },
                {
                    "name": "midlife crisis",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mdlc",
                    "type": "recommended"
                },
                {
                    "name": "CG4973",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4973",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4973",
                    "type": "synonym"
                },
                {
                    "name": "mdlc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VDP8-1",
            "evidence": [
                {
                    "id": "0111868",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111868"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111868"
}