{
    "disease_id": "DOID:0070024",
    "recommended_name": {
        "id": "DOID:0070024",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070024",
        "name": "autosomal recessive dyskeratosis congenita 6",
        "description": "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the PARN gene on chromosome 16p13.12."
    },
    "synonyms": [
        {
            "id": "DOID:0070024",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070024",
            "name": "DKCB6",
            "description": ""
        },
        {
            "id": "MONDO:0014600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014600",
            "name": "dyskeratosis congenita, autosomal recessive 6",
            "description": "Any dyskeratosis congenita in which the cause of the disease is a mutation in the PARN gene."
        },
        {
            "id": "MONDO:0014600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014600",
            "name": "DKCB6",
            "description": ""
        },
        {
            "id": "MONDO:0014600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014600",
            "name": "PARN dyskeratosis congenita",
            "description": ""
        },
        {
            "id": "MONDO:0014600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014600",
            "name": "dyskeratosis congenita caused by mutation in PARN",
            "description": ""
        },
        {
            "id": "MONDO:0014600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014600",
            "name": "dyskeratosis congenita, autosomal recessive 6",
            "description": ""
        },
        {
            "id": "MONDO:0014600",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014600",
            "name": "dyskeratosis congenita, autosomal recessive type 6",
            "description": ""
        },
        {
            "id": "MIM:616353",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616353",
            "name": "Dyskeratosis congenita, autosomal recessive, 6",
            "description": "Dyskeratosis congenita, autosomal recessive, 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070024"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070024",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070024",
            "categories": []
        },
        {
            "id": "MONDO:0014600",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014600",
            "categories": []
        },
        {
            "id": "MIM:616353",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616353",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZU92-1",
            "uniprot_ac": "Q7ZU92",
            "uniprot_id": "PARN_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Poly(A)-specific ribonuclease PARN",
                    "type": "recommended"
                },
                {
                    "name": "3.1.13.4",
                    "type": "synonym"
                },
                {
                    "name": "Polyadenylate-specific ribonuclease",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "parn",
                    "type": "recommended"
                },
                {
                    "name": "zgc:56067",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZU92-1",
            "evidence": [
                {
                    "id": "0070024",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070024"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VDG3-1",
            "uniprot_ac": "Q8VDG3",
            "uniprot_id": "PARN_MOUSE",
            "refseq_ac": "NP_083037",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Poly(A)-specific ribonuclease PARN",
                    "type": "recommended"
                },
                {
                    "name": "3.1.13.4",
                    "type": "synonym"
                },
                {
                    "name": "Polyadenylate-specific ribonuclease",
                    "type": "synonym"
                },
                {
                    "name": "poly(A)-specific ribonuclease PARN isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "poly(A)-specific ribonuclease PARN",
                    "type": "synonym"
                },
                {
                    "name": "polyadenylate-specific ribonuclease",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Parn",
                    "type": "recommended"
                },
                {
                    "name": "1200003I18Rik",
                    "type": "synonym"
                },
                {
                    "name": "DAN",
                    "type": "synonym"
                },
                {
                    "name": "Parn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VDG3-1",
            "evidence": [
                {
                    "id": "0070024",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070024"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95453-1",
            "uniprot_ac": "O95453",
            "uniprot_id": "PARN_HUMAN",
            "refseq_ac": "NP_001127949",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Poly(A)-specific ribonuclease PARN",
                    "type": "recommended"
                },
                {
                    "name": "3.1.13.4",
                    "type": "synonym"
                },
                {
                    "name": "Deadenylating nuclease",
                    "type": "synonym"
                },
                {
                    "name": "Deadenylation nuclease",
                    "type": "synonym"
                },
                {
                    "name": "Polyadenylate-specific ribonuclease",
                    "type": "synonym"
                },
                {
                    "name": "deadenylating nuclease",
                    "type": "synonym"
                },
                {
                    "name": "deadenylation nuclease",
                    "type": "synonym"
                },
                {
                    "name": "poly(A)-specific ribonuclease PARN isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "polyadenylate-specific ribonuclease",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PARN",
                    "type": "recommended"
                },
                {
                    "name": "DAN",
                    "type": "synonym"
                },
                {
                    "name": "DKCB6",
                    "type": "synonym"
                },
                {
                    "name": "PARN",
                    "type": "synonym"
                },
                {
                    "name": "PFBMFT4",
                    "type": "synonym"
                }
            ],
            "record_id": "O95453-1",
            "evidence": [
                {
                    "id": "616353",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616353"
                },
                {
                    "id": "0070024",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070024"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070024"
}