{
    "disease_id": "DOID:0112134",
    "recommended_name": {
        "id": "DOID:0112134",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112134",
        "name": "severe congenital neutropenia 6",
        "description": "A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the JAGN1 gene on chromosome 3p25.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112134",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112134",
            "name": "SCN6",
            "description": ""
        },
        {
            "id": "DOID:0112134",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112134",
            "name": "autosomal recessive severe congenital neutropenia due to JAGN1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014456",
            "name": "autosomal recessive severe congenital neutropenia due to JAGN1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014456",
            "name": "SCN6",
            "description": ""
        },
        {
            "id": "MONDO:0014456",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014456",
            "name": "neutropenia, severe congenital, 6, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:616022",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616022",
            "name": "Neutropenia, severe congenital 6, autosomal recessive",
            "description": "Neutropenia, severe congenital 6, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112134"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112134",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112134",
            "categories": []
        },
        {
            "id": "MONDO:0014456",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014456",
            "categories": []
        },
        {
            "id": "MIM:616022",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616022",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5XJX0-1",
            "uniprot_ac": "Q5XJX0",
            "uniprot_id": "JGN1A_DANRE",
            "refseq_ac": "NP_001005774",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein jagunal homolog 1-A",
                    "type": "recommended"
                },
                {
                    "name": "protein jagunal homolog 1-A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "jagn1a",
                    "type": "recommended"
                },
                {
                    "name": "jagn1a",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-283e2.4",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101070",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XJX0-1",
            "evidence": [
                {
                    "id": "0112134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112134"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q1L864-1",
            "uniprot_ac": "Q1L864",
            "uniprot_id": "JGN1B_DANRE",
            "refseq_ac": "NP_001003584",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein jagunal homolog 1-B",
                    "type": "recommended"
                },
                {
                    "name": "protein jagunal homolog 1-B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "jagn1b",
                    "type": "recommended"
                },
                {
                    "name": "jagn1b",
                    "type": "synonym"
                },
                {
                    "name": "si:ch73-162i18.3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb07b07",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101045",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1L864-1",
            "evidence": [
                {
                    "id": "0112134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112134"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XKN4-1",
            "uniprot_ac": "Q5XKN4",
            "uniprot_id": "JAGN1_MOUSE",
            "refseq_ac": "NP_001230668",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein jagunal homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "protein jagunal homolog 1 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "protein jagunal homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Jagn1",
                    "type": "recommended"
                },
                {
                    "name": "5830427H10Rik",
                    "type": "synonym"
                },
                {
                    "name": "Jagn1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XKN4-1",
            "evidence": [
                {
                    "id": "0112134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112134"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N5M9-1",
            "uniprot_ac": "Q8N5M9",
            "uniprot_id": "JAGN1_HUMAN",
            "refseq_ac": "NP_115881",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein jagunal homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "protein jagunal homolog 1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "protein jagunal homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "JAGN1",
                    "type": "recommended"
                },
                {
                    "name": "GL009",
                    "type": "synonym"
                },
                {
                    "name": "JAGN1",
                    "type": "synonym"
                },
                {
                    "name": "SCN6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N5M9-1",
            "evidence": [
                {
                    "id": "0014456",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014456"
                },
                {
                    "id": "616022",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616022"
                },
                {
                    "id": "0112134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112134"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4KM64-1",
            "uniprot_ac": "Q4KM64",
            "uniprot_id": "JAGN1_RAT",
            "refseq_ac": "NP_001037737",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein jagunal homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "jagunal homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "protein jagunal homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Jagn1",
                    "type": "recommended"
                },
                {
                    "name": "Jagn1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4KM64-1",
            "evidence": [
                {
                    "id": "0112134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112134"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7K1V5-1",
            "uniprot_ac": "Q7K1V5",
            "uniprot_id": "JAGN_DROME",
            "refseq_ac": "NP_649585",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein jagunal",
                    "type": "recommended"
                },
                {
                    "name": "CG10978-PA",
                    "type": "synonym"
                },
                {
                    "name": "jagn-PA",
                    "type": "synonym"
                },
                {
                    "name": "jagunal, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "jagn",
                    "type": "recommended"
                },
                {
                    "name": "CG10978",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10978",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10978",
                    "type": "synonym"
                },
                {
                    "name": "Jagn",
                    "type": "synonym"
                },
                {
                    "name": "jagn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7K1V5-1",
            "evidence": [
                {
                    "id": "0112134",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112134"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112134"
}