{
    "disease_id": "DOID:0050684",
    "recommended_name": {
        "id": "DOID:0050684",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050684",
        "name": "Bowen-Conradi syndrome",
        "description": "A syndrome that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has_material_basis_in homozygous mutation in the EMG1 gene on chromosome 12p13."
    },
    "synonyms": [
        {
            "id": "DOID:0050684",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050684",
            "name": "BWCNS",
            "description": ""
        },
        {
            "id": "DOID:0050684",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050684",
            "name": "Bowen Hutterite syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050684",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050684",
            "name": "Bowen-Conradi Hutterite syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008879",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008879",
            "name": "Bowen-Conradi syndrome",
            "description": "Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet."
        },
        {
            "id": "MONDO:0008879",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008879",
            "name": "BWCNS",
            "description": ""
        },
        {
            "id": "MONDO:0008879",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008879",
            "name": "Bowen Hutterite Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008879",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008879",
            "name": "Bowen Hutterite syndrome (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0008879",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008879",
            "name": "Bowen Hutterite syndrome, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0008879",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008879",
            "name": "Bowen syndrome, Hutterite type",
            "description": ""
        },
        {
            "id": "MONDO:0008879",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008879",
            "name": "Bowen-Conradi Hutterite syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008879",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008879",
            "name": "Bowen-Conradi syndrome",
            "description": ""
        },
        {
            "id": "MIM:211180",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/211180",
            "name": "Bowen-Conradi syndrome",
            "description": "Bowen-Conradi syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050684"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050684",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050684",
            "categories": []
        },
        {
            "id": "MONDO:0008879",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008879",
            "categories": []
        },
        {
            "id": "MIM:211180",
            "database": "MIM",
            "url": "https://www.omim.org/entry/211180",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O35130-1",
            "uniprot_ac": "O35130",
            "uniprot_id": "NEP1_MOUSE",
            "refseq_ac": "NP_038564",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribosomal RNA small subunit methyltransferase NEP1",
                    "type": "recommended"
                },
                {
                    "name": "18S rRNA (pseudouridine(1248)-N1)-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "18S rRNA (pseudouridine-N1-)-methyltransferase NEP1",
                    "type": "synonym"
                },
                {
                    "name": "18S rRNA Psi1248 methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "EMG1 nucleolar protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Nucleolar protein EMG1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Protein C2f",
                    "type": "synonym"
                },
                {
                    "name": "Ribosome biogenesis protein NEP1",
                    "type": "synonym"
                },
                {
                    "name": "gene rich cluster, C2f",
                    "type": "synonym"
                },
                {
                    "name": "nucleolar protein EMG1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "probable ribosome biogenesis protein NEP1",
                    "type": "synonym"
                },
                {
                    "name": "protein C2f",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal RNA small subunit methyltransferase NEP1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal RNA small subunit methyltransferase NEP1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Emg1",
                    "type": "recommended"
                },
                {
                    "name": "C2f",
                    "type": "synonym"
                },
                {
                    "name": "Emg1",
                    "type": "synonym"
                },
                {
                    "name": "Grcc2f",
                    "type": "synonym"
                }
            ],
            "record_id": "O35130-1",
            "evidence": [
                {
                    "id": "0050684",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050684"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92979-1",
            "uniprot_ac": "Q92979",
            "uniprot_id": "NEP1_HUMAN",
            "refseq_ac": "NP_001306978",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribosomal RNA small subunit methyltransferase NEP1",
                    "type": "recommended"
                },
                {
                    "name": "18S rRNA (pseudouridine(1248)-N1)-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "18S rRNA (pseudouridine-N1-)-methyltransferase NEP1",
                    "type": "synonym"
                },
                {
                    "name": "18S rRNA Psi1248 methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "EMG1 nucleolar protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Nucleolar protein EMG1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Protein C2f",
                    "type": "synonym"
                },
                {
                    "name": "Ribosome biogenesis protein NEP1",
                    "type": "synonym"
                },
                {
                    "name": "essential for mitotic growth 1",
                    "type": "synonym"
                },
                {
                    "name": "nucleolar essential protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal RNA small subunit methyltransferase NEP1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal RNA small subunit methyltransferase NEP1",
                    "type": "synonym"
                },
                {
                    "name": "ribosome biogenesis protein NEP1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EMG1",
                    "type": "recommended"
                },
                {
                    "name": "C2F",
                    "type": "synonym"
                },
                {
                    "name": "EMG1",
                    "type": "synonym"
                },
                {
                    "name": "Grcc2f",
                    "type": "synonym"
                },
                {
                    "name": "NEP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92979-1",
            "evidence": [
                {
                    "id": "211180",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/211180"
                },
                {
                    "id": "0050684",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050684"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06287-1",
            "uniprot_ac": "Q06287",
            "uniprot_id": "NEP1_YEAST",
            "refseq_ac": "NP_013287",
            "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": "Ribosomal RNA small subunit methyltransferase NEP1",
                    "type": "recommended"
                },
                {
                    "name": "18S rRNA (pseudouridine(1189)-N1)-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "18S rRNA Psi1189 methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "18S rRNA pseudouridine methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.260",
                    "type": "synonym"
                },
                {
                    "name": "Essential for mitotic growth protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Nucleolar essential protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EMG1",
                    "type": "recommended"
                },
                {
                    "name": "EMG1",
                    "type": "synonym"
                },
                {
                    "name": "L9470.5",
                    "type": "synonym"
                },
                {
                    "name": "NEP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06287-1",
            "evidence": [
                {
                    "id": "0050684",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050684"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZDS4-1",
            "uniprot_ac": "D3ZDS4",
            "uniprot_id": "D3ZDS4_RAT",
            "refseq_ac": "NP_001101358",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "18S rRNA (pseudouridine(1248)-N1)-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "18S rRNA Psi1248 methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "EMG1 nucleolar protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Nucleolar protein EMG1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Protein C2f",
                    "type": "synonym"
                },
                {
                    "name": "Ribosome biogenesis protein NEP1",
                    "type": "synonym"
                },
                {
                    "name": "gene rich cluster, C2f",
                    "type": "synonym"
                },
                {
                    "name": "probable ribosome biogenesis protein NEP1",
                    "type": "synonym"
                },
                {
                    "name": "ribosomal RNA small subunit methyltransferase NEP1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Emg1",
                    "type": "recommended"
                },
                {
                    "name": "Emg1",
                    "type": "synonym"
                },
                {
                    "name": "Grcc2f",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZDS4-1",
            "evidence": [
                {
                    "id": "0050684",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050684"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W4J5-1",
            "uniprot_ac": "Q9W4J5",
            "uniprot_id": "NEP1_DROME",
            "refseq_ac": "NP_572170",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribosomal RNA small subunit methyltransferase NEP1",
                    "type": "recommended"
                },
                {
                    "name": "18S rRNA (pseudouridine-N1)-methyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "CG3527-PA",
                    "type": "synonym"
                },
                {
                    "name": "Ribosome biogenesis protein NEP1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG3527",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3527",
                    "type": "synonym"
                },
                {
                    "name": "dNEP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W4J5-1",
            "evidence": [
                {
                    "id": "0050684",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050684"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050684"
}