{
    "disease_id": "DOID:0060551",
    "recommended_name": {
        "id": "DOID:0060551",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060551",
        "name": "poikiloderma with neutropenia",
        "description": "A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections and has_material_basis_in mutation in the C16ORF57 gene on chromosome 16q13."
    },
    "synonyms": [
        {
            "id": "DOID:0060551",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060551",
            "name": "poikiloderma with neutropenia, Clericuzio type",
            "description": ""
        },
        {
            "id": "MONDO:0011405",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011405",
            "name": "poikiloderma with neutropenia",
            "description": "A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13."
        },
        {
            "id": "MONDO:0011405",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011405",
            "name": "Prurigo Nodularis",
            "description": ""
        },
        {
            "id": "MONDO:0011405",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011405",
            "name": "poikiloderma with neutropenia",
            "description": ""
        },
        {
            "id": "MONDO:0011405",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011405",
            "name": "poikiloderma with neutropenia, Clericuzio type",
            "description": ""
        },
        {
            "id": "MONDO:0011405",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011405",
            "name": "Clericuzio type poikiloderma with neutropenia",
            "description": ""
        },
        {
            "id": "MONDO:0011405",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011405",
            "name": "PN",
            "description": ""
        },
        {
            "id": "MONDO:0011405",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011405",
            "name": "poikiloderma with neutropenia Clericuzio type",
            "description": ""
        },
        {
            "id": "MIM:604173",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604173",
            "name": "Poikiloderma with neutropenia",
            "description": "Poikiloderma with neutropenia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060551"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060551",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060551",
            "categories": []
        },
        {
            "id": "MONDO:0011405",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011405",
            "categories": []
        },
        {
            "id": "MIM:604173",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604173",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6DEF6-1",
            "uniprot_ac": "Q6DEF6",
            "uniprot_id": "USB1_DANRE",
            "refseq_ac": "NP_001003460",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "U6 snRNA phosphodiesterase 1",
                    "type": "recommended"
                },
                {
                    "name": "3'-5' RNA exonuclease USB1",
                    "type": "synonym"
                },
                {
                    "name": "4.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "U6 snRNA phosphodiesterase 1",
                    "type": "synonym"
                },
                {
                    "name": "UPF0406 protein C16orf57 homolog",
                    "type": "synonym"
                },
                {
                    "name": "putative U6 snRNA phosphodiesterase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "usb1",
                    "type": "recommended"
                },
                {
                    "name": "USB1",
                    "type": "synonym"
                },
                {
                    "name": "usb1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:91896",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DEF6-1",
            "evidence": [
                {
                    "id": "0060551",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060551"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91W78-1",
            "uniprot_ac": "Q91W78",
            "uniprot_id": "USB1_MOUSE",
            "refseq_ac": "NP_598715",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "U6 snRNA phosphodiesterase 1",
                    "type": "recommended"
                },
                {
                    "name": "3'-5' RNA exonuclease USB1",
                    "type": "synonym"
                },
                {
                    "name": "4.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "U6 snRNA phosphodiesterase 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "U6 snRNA phosphodiesterase 1",
                    "type": "synonym"
                },
                {
                    "name": "UPF0406 protein C16orf57 homolog",
                    "type": "synonym"
                },
                {
                    "name": "putative U6 snRNA phosphodiesterase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Usb1",
                    "type": "recommended"
                },
                {
                    "name": "AA960436",
                    "type": "synonym"
                },
                {
                    "name": "USB1",
                    "type": "synonym"
                },
                {
                    "name": "Usb1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91W78-1",
            "evidence": [
                {
                    "id": "0060551",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060551"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BQ65-1",
            "uniprot_ac": "Q9BQ65",
            "uniprot_id": "USB1_HUMAN",
            "refseq_ac": "NP_001182231",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "U6 snRNA phosphodiesterase 1",
                    "type": "recommended"
                },
                {
                    "name": "3'-5' RNA exonuclease USB1",
                    "type": "synonym"
                },
                {
                    "name": "4.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "HVSL motif containing 1",
                    "type": "synonym"
                },
                {
                    "name": "Mutated in PN protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Mutated in poikiloderma with neutropenia protein 1",
                    "type": "synonym"
                },
                {
                    "name": "U six biogenesis 1",
                    "type": "synonym"
                },
                {
                    "name": "U6 snRNA biogenesis 1",
                    "type": "synonym"
                },
                {
                    "name": "U6 snRNA phosphodiesterase 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "U6 snRNA phosphodiesterase 1",
                    "type": "synonym"
                },
                {
                    "name": "UPF0406 protein C16orf57",
                    "type": "synonym"
                },
                {
                    "name": "hMpn1",
                    "type": "synonym"
                },
                {
                    "name": "hUsb1",
                    "type": "synonym"
                },
                {
                    "name": "mutated in PN protein 1",
                    "type": "synonym"
                },
                {
                    "name": "mutated in poikiloderma with neutropenia protein 1",
                    "type": "synonym"
                },
                {
                    "name": "putative U6 snRNA phosphodiesterase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "USB1",
                    "type": "recommended"
                },
                {
                    "name": "C16orf57",
                    "type": "synonym"
                },
                {
                    "name": "HVSL1",
                    "type": "synonym"
                },
                {
                    "name": "Mpn1",
                    "type": "synonym"
                },
                {
                    "name": "PN",
                    "type": "synonym"
                },
                {
                    "name": "USB1",
                    "type": "synonym"
                },
                {
                    "name": "hMpn1",
                    "type": "synonym"
                },
                {
                    "name": "hUsb1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BQ65-1",
            "evidence": [
                {
                    "id": "604173",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604173"
                },
                {
                    "id": "0060551",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060551"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12208-1",
            "uniprot_ac": "Q12208",
            "uniprot_id": "USB1_YEAST",
            "refseq_ac": "NP_013233",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "U6 snRNA phosphodiesterase 1",
                    "type": "recommended"
                },
                {
                    "name": "3'-5' RNA exonuclease USB1",
                    "type": "synonym"
                },
                {
                    "name": "3.1.4.-",
                    "type": "synonym"
                },
                {
                    "name": "4.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "Cyclic phosphodiesterase USB1",
                    "type": "synonym"
                },
                {
                    "name": "U six biogenesis protein 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphoric diester hydrolase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "USB1",
                    "type": "recommended"
                },
                {
                    "name": "L3127",
                    "type": "synonym"
                },
                {
                    "name": "USB1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12208-1",
            "evidence": [
                {
                    "id": "0060551",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060551"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5I0I5-1",
            "uniprot_ac": "Q5I0I5",
            "uniprot_id": "USB1_RAT",
            "refseq_ac": "NP_001014035",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "U6 snRNA phosphodiesterase 1",
                    "type": "recommended"
                },
                {
                    "name": "3'-5' RNA exonuclease USB1",
                    "type": "synonym"
                },
                {
                    "name": "4.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "U6 snRNA biogenesis 1",
                    "type": "synonym"
                },
                {
                    "name": "U6 snRNA phosphodiesterase 1",
                    "type": "synonym"
                },
                {
                    "name": "UPF0406 protein C16orf57 homolog",
                    "type": "synonym"
                },
                {
                    "name": "putative U6 snRNA phosphodiesterase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Usb1",
                    "type": "recommended"
                },
                {
                    "name": "RGD1305215",
                    "type": "synonym"
                },
                {
                    "name": "USB1",
                    "type": "synonym"
                },
                {
                    "name": "Usb1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5I0I5-1",
            "evidence": [
                {
                    "id": "0060551",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060551"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VHB3-1",
            "uniprot_ac": "Q9VHB3",
            "uniprot_id": "USB1_DROME",
            "refseq_ac": "NP_649911",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "U6 snRNA phosphodiesterase 1",
                    "type": "recommended"
                },
                {
                    "name": "3'-5' RNA exonuclease USB1",
                    "type": "synonym"
                },
                {
                    "name": "4.6.1.-",
                    "type": "synonym"
                },
                {
                    "name": "CG16790-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG16790",
                    "type": "recommended"
                },
                {
                    "name": "CG16790",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG16790",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG16790",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VHB3-1",
            "evidence": [
                {
                    "id": "0060551",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060551"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060551"
}