{
    "disease_id": "DOID:0112135",
    "recommended_name": {
        "id": "DOID:0112135",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112135",
        "name": "severe congenital neutropenia 8",
        "description": "An autosomal dominant severe congenital neutropenia characterized by decreased neutrophils and onset of recurrent bacterial infections in early infancy that has_material_basis_in heterozygous mutation in the SRP54 gene on chromosome 14q13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112135",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112135",
            "name": "autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities",
            "description": ""
        },
        {
            "id": "DOID:0112135",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112135",
            "name": "SCN8",
            "description": ""
        },
        {
            "id": "DOID:0112135",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112135",
            "name": "SDSL",
            "description": ""
        },
        {
            "id": "DOID:0112135",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112135",
            "name": "Shwachman-Diamond syndrome-like",
            "description": ""
        },
        {
            "id": "MONDO:0032899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032899",
            "name": "neutropenia, severe congenital, 8, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0032899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032899",
            "name": "SCN8",
            "description": ""
        },
        {
            "id": "MIM:618752",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618752",
            "name": "Neutropenia, severe congenital 8, autosomal dominant",
            "description": "Neutropenia, severe congenital 8, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112135"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112135",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112135",
            "categories": []
        },
        {
            "id": "MONDO:0032899",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032899",
            "categories": []
        },
        {
            "id": "MIM:618752",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618752",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZVN5-1",
            "uniprot_ac": "Q7ZVN5",
            "uniprot_id": "SRP54_DANRE",
            "refseq_ac": "NP_957282",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Signal recognition particle subunit SRP54",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.4",
                    "type": "synonym"
                },
                {
                    "name": "Signal recognition particle 54 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "signal recognition particle 54 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "signal recognition particle subunit SRP54",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "srp54",
                    "type": "recommended"
                },
                {
                    "name": "Srp54k",
                    "type": "synonym"
                },
                {
                    "name": "srp54",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55842",
                    "type": "synonym"
                },
                {
                    "name": "zgc:85713",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZVN5-1",
            "evidence": [
                {
                    "id": "0112135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112135"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14576-1",
            "uniprot_ac": "P14576",
            "uniprot_id": "SRP54_MOUSE",
            "refseq_ac": "NP_036029",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Signal recognition particle subunit SRP54",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.4",
                    "type": "synonym"
                },
                {
                    "name": "54K subunit of signal recognition particle",
                    "type": "synonym"
                },
                {
                    "name": "Signal recognition particle 54 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "signal recognition particle 54 kDa protein isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "signal recognition particle 54 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "signal recognition particle subunit SRP54",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Srp54a",
                    "type": "recommended"
                },
                {
                    "name": "Srp54",
                    "type": "recommended"
                },
                {
                    "name": "54kDa",
                    "type": "synonym"
                },
                {
                    "name": "Srp54a",
                    "type": "synonym"
                },
                {
                    "name": "Srp54b",
                    "type": "synonym"
                },
                {
                    "name": "Srp54",
                    "type": "synonym"
                }
            ],
            "record_id": "P14576-1",
            "evidence": [
                {
                    "id": "0112135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112135"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9PXC0-1",
            "uniprot_ac": "E9PXC0",
            "uniprot_id": "E9PXC0_MOUSE",
            "refseq_ac": "NP_001093580",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Signal recognition particle 54 kDa protein",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "signal recognition particle 54C isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Srp54c",
                    "type": "recommended"
                },
                {
                    "name": "E330029E12Rik",
                    "type": "synonym"
                },
                {
                    "name": "Srp54c",
                    "type": "synonym"
                }
            ],
            "record_id": "E9PXC0-1",
            "evidence": [
                {
                    "id": "0112135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112135"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P61011-1",
            "uniprot_ac": "P61011",
            "uniprot_id": "SRP54_HUMAN",
            "refseq_ac": "NP_001139754",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Signal recognition particle subunit SRP54",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.4",
                    "type": "synonym"
                },
                {
                    "name": "SRP54 GTPase",
                    "type": "synonym"
                },
                {
                    "name": "Signal recognition particle 54 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "signal recognition particle 54 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "signal recognition particle 54kDa",
                    "type": "synonym"
                },
                {
                    "name": "signal recognition particle 54kD",
                    "type": "synonym"
                },
                {
                    "name": "signal recognition particle subunit SRP54 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "signal recognition particle subunit SRP54",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SRP54",
                    "type": "recommended"
                },
                {
                    "name": "SCN8",
                    "type": "synonym"
                },
                {
                    "name": "SRP54",
                    "type": "synonym"
                }
            ],
            "record_id": "P61011-1",
            "evidence": [
                {
                    "id": "618752",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618752"
                },
                {
                    "id": "0112135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112135"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20424-1",
            "uniprot_ac": "P20424",
            "uniprot_id": "SRP54_YEAST",
            "refseq_ac": "NP_015413",
            "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": "Signal recognition particle subunit SRP54",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.4",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding signal recognition particle subunit SRP54",
                    "type": "synonym"
                },
                {
                    "name": "Signal recognition particle 54 kDa protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SRP54",
                    "type": "recommended"
                },
                {
                    "name": "P9513.14",
                    "type": "synonym"
                },
                {
                    "name": "SRH1",
                    "type": "synonym"
                },
                {
                    "name": "SRP54",
                    "type": "synonym"
                }
            ],
            "record_id": "P20424-1",
            "evidence": [
                {
                    "id": "0112135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112135"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6AYB5-1",
            "uniprot_ac": "Q6AYB5",
            "uniprot_id": "SRP54_RAT",
            "refseq_ac": "NP_446323",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Signal recognition particle subunit SRP54",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.4",
                    "type": "synonym"
                },
                {
                    "name": "Signal recognition particle 54 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "signal recognition particle 54 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "signal recognition particle subunit SRP54",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Srp54a",
                    "type": "recommended"
                },
                {
                    "name": "Srp54",
                    "type": "recommended"
                },
                {
                    "name": "Srp54a",
                    "type": "synonym"
                },
                {
                    "name": "Srp54",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6AYB5-1",
            "evidence": [
                {
                    "id": "0112135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112135"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V3D9-1",
            "uniprot_ac": "Q9V3D9",
            "uniprot_id": "Q9V3D9_DROME",
            "refseq_ac": "NP_523931",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Signal recognition particle 54 kDa protein",
                    "type": "recommended"
                },
                {
                    "name": "CG4659-PA",
                    "type": "synonym"
                },
                {
                    "name": "Srp54k-PA",
                    "type": "synonym"
                },
                {
                    "name": "signal recognition particle 54k",
                    "type": "synonym"
                },
                {
                    "name": "signal recognition particle protein 54k",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Srp54k",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA.GM09489",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GM09489",
                    "type": "synonym"
                },
                {
                    "name": "CG4659",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4659",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4659",
                    "type": "synonym"
                },
                {
                    "name": "Srp54k",
                    "type": "synonym"
                },
                {
                    "name": "Srp54",
                    "type": "synonym"
                },
                {
                    "name": "l(3)01418",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V3D9-1",
            "evidence": [
                {
                    "id": "0112135",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112135"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112135"
}