{ "disease_id": "DOID:0050590", "recommended_name": { "id": "DOID:0050590", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050590", "name": "severe congenital neutropenia", "description": "A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections." }, "synonyms": [ { "id": "MONDO:0042490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0042490", "name": "neutropenia, severe congenital, 1, autosomal dominant", "description": "" }, { "id": "MONDO:0042490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0042490", "name": "neutropenia, severe congenital 1, autosomal dominant", "description": "" }, { "id": "MONDO:0042490", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0042490", "name": "neutropenia, severe congenital, 1, autosomal dominant", "description": "" }, { "id": "MONDO:0042490", 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true, "children": [] } ] }, { "id": "DOID:0112132", "label": "severe congenital neutropenia 5", "link_status": true, "children": [] }, { "id": "DOID:0112133", "label": "severe congenital neutropenia 3", "link_status": true, "children": [] }, { "id": "DOID:0112134", "label": "severe congenital neutropenia 6", "link_status": true, "children": [] }, { "id": "DOID:0112136", "label": "severe congenital neutropenia 4", "link_status": true, "children": [] } ], "id_list": [ "DOID:0112136", "DOID:0112128", "DOID:0112135", "DOID:0112131", "DOID:0112130", "DOID:0112132", "DOID:0112133", "DOID:0112134", "DOID:0080625", "DOID:0112129", "DOID:0050590" ], "unlinked_id_list": [ "DOID:0112130" ], "crossref": [ { "id": "DOID:0050590", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050590", "categories": [] }, { "id": "MONDO:0042490", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0042490", "categories": [] }, { "id": "MIM:202700", "database": "MIM", "url": "https://www.omim.org/entry/202700", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "A0A8M3AT32-1", "uniprot_ac": "A0A8M3AT32", "uniprot_id": "A0A8M3AT32_DANRE", "refseq_ac": "XP_009290275", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Mitochondrial disaggregase", "type": "recommended" }, { "name": "Suppressor of potassium transport defect 3", "type": "synonym" }, { "name": "mitochondrial disaggregase isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "clpb", "type": "recommended" }, { "name": "clpb", "type": "synonym" } ], "record_id": "A0A8M3AT32-1", "evidence": [ { "id": "0050590", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050590" } ] }, { "uniprot_canonical_ac": "Q90ZM2-1", "uniprot_ac": "Q90ZM2", "uniprot_id": "S61A1_DANRE", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Protein transport protein Sec61 subunit alpha-like 1", "type": "recommended" } ], "gene_names": [ { "name": "sec61al1", "type": "recommended" }, { "name": "sec61aa", "type": "synonym" }, { "name": "sec61a", "type": "synonym" } ], "record_id": "Q90ZM2-1", "evidence": [ { "id": "0050590", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050590" } ] }, { "uniprot_canonical_ac": "Q90YL4-1", "uniprot_ac": "Q90YL4", "uniprot_id": "S61A2_DANRE", "refseq_ac": "NP_963871", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Protein transport protein Sec61 subunit alpha-like 2", "type": "recommended" }, { "name": "SEC61 translocon alpha 1 subunit, like", "type": "synonym" }, { "name": "SEC61 translocon subunit alpha 1, like", "type": "synonym" }, { "name": "SEC61, beta subunit", "type": "synonym" }, { "name": "Sec61 alpha like 2", "type": "synonym" }, { "name": "protein transport protein Sec61 subunit alpha-like 2", "type": "synonym" }, { "name": "transport protein Sec61 subunit alpha like 2", "type": "synonym" } ], "gene_names": [ { "name": "sec61al2", "type": "recommended" }, { "name": "cb413", "type": "synonym" }, { "name": "sec61a1b", "type": "synonym" }, { "name": "sec61a1l", "type": "synonym" }, { "name": "sec61ab", "type": "synonym" }, { "name": "sec61al2", "type": "synonym" }, { "name": "sec61b", "type": "synonym" }, { "name": "wu:fb36f05", "type": "synonym" }, { "name": "wu:fb36f12", "type": "synonym" }, { "name": "wu:fb37d04", "type": "synonym" }, { "name": "wu:fi26f11", "type": "synonym" } ], "record_id": "Q90YL4-1", "evidence": [ { "id": "0050590", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050590" } ] }, { "uniprot_canonical_ac": "A0AB32U1L7-1", "uniprot_ac": "A0AB32U1L7", "uniprot_id": "A0AB32U1L7_DANRE", "refseq_ac": "XP_068080241", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Growth factor independent 1A transcription repressor a isoform X1", "type": "synonym" }, { "name": "growth factor independent 1A transcription repressor a isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "gfi1aa", "type": "recommended" }, { "name": "gfi1.1", "type": "synonym" }, { "name": "gfi1aa", "type": "synonym" }, { "name": "gfi1a", "type": "synonym" }, { "name": "zgc:113277", "type": "synonym" } ], "record_id": "A0AB32U1L7-1", "evidence": [ { "id": "0050590", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050590" } ] }, { "uniprot_canonical_ac": "P70338-1", "uniprot_ac": "P70338", "uniprot_id": "GFI1_MOUSE", "refseq_ac": "NP_034408", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Zinc finger protein Gfi-1", "type": "recommended" }, { "name": "Growth factor independent protein 1", "type": "synonym" }, { "name": "growth factor independent protein 1", "type": "synonym" }, { "name": "zinc finger protein Gfi-1 isoform 1", "type": "synonym" }, { "name": "zinc finger protein Gfi-1", "type": "synonym" } ], "gene_names": [ { "name": "Gfi1", "type": "recommended" }, { "name": "Gfi-1", "type": "synonym" }, { "name": "Gfi1", "type": "synonym" }, { "name": "Pal-1", "type": "synonym" }, { "name": "Pal1", "type": "synonym" } ], "record_id": "P70338-1", "evidence": [ { "id": "0050590", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050590" } ] }, { "uniprot_canonical_ac": "Q3UP87-1", "uniprot_ac": "Q3UP87", "uniprot_id": "ELNE_MOUSE", "refseq_ac": "NP_056594", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Neutrophil elastase", "type": "recommended" }, { "name": "3.4.21.37", "type": "synonym" }, { "name": "Elastase-2", "type": "synonym" }, { "name": "Leukocyte elastase", "type": "synonym" }, { "name": "elastase 2, neutrophil", "type": "synonym" }, { "name": "leukocyte elastase", "type": "synonym" }, { "name": "neutrophil elastase precursor", "type": "synonym" } ], "gene_names": [ { "name": "Elane", "type": "recommended" }, { "name": "Ela2", "type": "synonym" }, { "name": "Elane", "type": "synonym" }, { "name": "F430011M15Rik", "type": "synonym" }, { "name": "NE", "type": "synonym" } ], "record_id": "Q3UP87-1", "evidence": [ { "id": "0050590", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050590" } ] }, { "uniprot_canonical_ac": "Q60649-1", "uniprot_ac": "Q60649", "uniprot_id": "CLPB_MOUSE", "refseq_ac": "NP_033217", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Mitochondrial disaggregase", "type": "recommended" }, { "name": "3.6.1.-", "type": "synonym" }, { "name": "ClpB caseinolytic peptidase B homolog", "type": "synonym" }, { "name": "Suppressor of potassium transport defect 3", "type": "synonym" }, { "name": "caseinolytic peptidase B protein homolog", "type": "synonym" }, { "name": "mitochondrial disaggregase isoform 1 precursor", "type": "synonym" }, { "name": "mitochondrial disaggregase", "type": "synonym" }, { "name": "suppressor of K+ transport defect 3", "type": "synonym" }, { "name": "suppressor of potassium transport defect 3", "type": "synonym" } ], "gene_names": [ { "name": "Clpb", "type": "recommended" }, { "name": "Clpb", "type": "synonym" }, { "name": "Skd3", "type": "synonym" } ], "record_id": "Q60649-1", "evidence": [ { "id": "0050590", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050590" } ] }, { "uniprot_canonical_ac": "P40223-1", "uniprot_ac": "P40223", "uniprot_id": "CSF3R_MOUSE", "refseq_ac": "NP_031808", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Granulocyte colony-stimulating factor receptor", "type": "recommended" }, { "name": "G-CSF receptor", "type": "synonym" }, { "name": "G-CSF-R", "type": "synonym" }, { "name": "colony stimulating factor 3 receptor (granulocyte)", "type": "synonym" }, { "name": "granulocyte colony-stimulating factor receptor isoform 1 precursor", "type": "synonym" }, { "name": "granulocyte colony-stimulating factor receptor", "type": "synonym" } ], "gene_names": [ { "name": "Csf3r", "type": "recommended" }, { "name": "Cd114", "type": "synonym" }, { "name": "Csf3r", "type": "synonym" }, { "name": "Csfgr", "type": "synonym" }, { "name": "G-CSF-R", "type": "synonym" }, { "name": "G-CSFR", "type": "synonym" } ], "record_id": "P40223-1", "evidence": [ { "id": "0050590", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050590" } ] }, { "uniprot_canonical_ac": "Q8BMA6-1", "uniprot_ac": "Q8BMA6", "uniprot_id": "SRP68_MOUSE", "refseq_ac": "NP_666144", "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 SRP68", "type": "recommended" }, { "name": "SRP68", "type": "synonym" }, { "name": "Signal recognition particle 68 kDa protein", "type": "synonym" }, { "name": "likely ortholog of H. sapiens signal recognition particle 68kDa (SRP68)", "type": "synonym" }, { "name": "signal recognition particle 68 kDa protein", "type": "synonym" }, { "name": "signal recognition particle 68kDa", "type": "synonym" }, { "name": "signal recognition particle subunit SRP68", "type": "synonym" } ], "gene_names": [ { "name": "Srp68", "type": "recommended" }, { "name": "2610024I03Rik", "type": "synonym" }, { "name": "Srp68", "type": "synonym" } ], "record_id": "Q8BMA6-1", "evidence": [ { "id": "0050590", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050590" } ] }, { "uniprot_canonical_ac": "P61620-1", "uniprot_ac": "P61620", "uniprot_id": "S61A1_MOUSE", "refseq_ac": "NP_058602", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Protein transport protein Sec61 subunit alpha isoform 1", "type": "recommended" }, { "name": "SEC61, alpha subunit", "type": "synonym" }, { "name": "Sec61 alpha 1 subunit", "type": "synonym" }, { "name": "Sec61 alpha-1", "type": "synonym" }, { "name": "protein transport protein Sec61 subunit alpha isoform 1", "type": "synonym" }, { "name": "protein transport protein Sec61 subunit alpha", "type": "synonym" }, { "name": "sec61 alpha-1", "type": "synonym" }, { "name": "transport protein sec61 alpha subunit", "type": "synonym" } ], "gene_names": [ { "name": "Sec61a1", "type": "recommended" }, { "name": "Sec61a1", "type": "synonym" }, { "name": "Sec61a", "type": "synonym" } ], "record_id": "P61620-1", "evidence": [ { "id": "0050590", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050590" } ] }, { "uniprot_canonical_ac": "O35387-1", "uniprot_ac": "O35387", "uniprot_id": "HAX1_MOUSE", "refseq_ac": "NP_035956", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "HCLS1-associated protein X-1", "type": "recommended" }, { "name": "HAX-1", "type": "synonym" }, { "name": "HCLS1-associated protein X-1 isoform 1", "type": "synonym" }, { "name": "HCLS1-associated protein X-1", "type": "synonym" }, { "name": "HS1 binding protein", "type": "synonym" }, { "name": "HS1-associated protein X-1", "type": "synonym" }, { "name": "HS1-associating protein X-1", "type": "synonym" }, { "name": "HS1-binding protein 1", "type": "synonym" }, { "name": "HSP1BP-1", "type": "synonym" } ], "gene_names": [ { "name": "Hax1", "type": "recommended" }, { "name": "HAX-1", "type": "synonym" }, { "name": "HSP1BP-1", "type": "synonym" }, { "name": "Hax1", "type": "synonym" }, { "name": "Hs1bp1", "type": "synonym" }, { "name": "SIG-111", "type": "synonym" }, { "name": "Silg111", "type": "synonym" }, { "name": "mHAX-1s", "type": "synonym" } ], "record_id": "O35387-1", "evidence": [ { "id": "0050590", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050590" } ] }, { "uniprot_canonical_ac": "P08246-1", "uniprot_ac": "P08246", "uniprot_id": "ELNE_HUMAN", "refseq_ac": "NP_001963", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Neutrophil elastase", "type": "recommended" }, { "name": "3.4.21.37", "type": "synonym" }, { "name": "Bone marrow serine protease", "type": "synonym" }, { "name": "Elastase-2", "type": "synonym" }, { "name": "HLE", "type": "synonym" }, { "name": "Human leukocyte elastase", "type": "synonym" }, { "name": "Medullasin", "type": "synonym" }, { "name": "PMN elastase", "type": "synonym" }, { "name": "bone marrow serine protease", "type": "synonym" }, { "name": "elastase 2, neutrophil", "type": "synonym" }, { "name": "elastase-2", "type": "synonym" }, { "name": "granulocyte-derived elastase", "type": "synonym" }, { "name": "leukocyte elastase", "type": "synonym" }, { "name": "medullasin", "type": "synonym" }, { "name": "neutrophil elastase preproprotein", "type": "synonym" }, { "name": "polymorphonuclear elastase", "type": "synonym" }, { "name": "polymorphonuclear leukocyte elastase", "type": "synonym" } ], "gene_names": [ { "name": "ELANE", "type": "recommended" }, { "name": "ELA2", "type": "synonym" }, { "name": "ELANE", "type": "synonym" }, { "name": "GE", "type": "synonym" }, { "name": "HLE", "type": "synonym" }, { "name": "HNE", "type": "synonym" }, { "name": "NE", "type": "synonym" }, { "name": "PMN-E", "type": "synonym" }, { "name": "SCN1", "type": "synonym" } ], "record_id": "P08246-1", "evidence": [ { "id": "202700", "database": "MIM", "url": "https://www.omim.org/entry/202700" }, { "id": "0050590", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050590" } ] }, { "uniprot_canonical_ac": "P32325-1", "uniprot_ac": "P32325", "uniprot_id": "DBF4_YEAST", "refseq_ac": 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S288C [559292]" } ], "protein_names": [ { "name": "Heat shock protein 104", "type": "recommended" }, { "name": "Protein aggregation-remodeling factor HSP104", "type": "synonym" }, { "name": "chaperone ATPase HSP104", "type": "synonym" } ], "gene_names": [ { "name": "HSP104", "type": "recommended" }, { "name": "HSP104", "type": "synonym" }, { "name": "L0948", "type": "synonym" } ], "record_id": "P31539-1", "evidence": [ { "id": "0050590", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050590" } ] }, { "uniprot_canonical_ac": "P38687-1", "uniprot_ac": "P38687", "uniprot_id": "SRP68_YEAST", "refseq_ac": "NP_015081", "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 SRP68", "type": "recommended" }, { "name": "Signal recognition 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"https://www.alliancegenome.org/disease/DOID:0050590" } ] }, { "uniprot_canonical_ac": "A0A8I6B3M3-1", "uniprot_ac": "A0A8I6B3M3", "uniprot_id": "A0A8I6B3M3_RAT", "refseq_ac": "XP_017448778", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Colony stimulating factor 3 receptor", "type": "synonym" }, { "name": "granulocyte colony-stimulating factor receptor isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "Csf3r", "type": "recommended" }, { "name": "Csf3r", "type": "synonym" } ], "record_id": "A0A8I6B3M3-1", "evidence": [ { "id": "0050590", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050590" } ] }, { "uniprot_canonical_ac": "Q9WTT2-1", "uniprot_ac": "Q9WTT2", "uniprot_id": "CLPB_RAT", "refseq_ac": "NP_075236", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Mitochondrial disaggregase", "type": "recommended" }, { "name": "3.6.1.-", "type": "synonym" }, { "name": "ClpB caseinolytic peptidase B homolog", "type": "synonym" }, { "name": "ClpB homolog, mitochondrial AAA ATPase chaperonin", "type": "synonym" }, { "name": "Suppressor of potassium transport defect 3", "type": "synonym" }, { "name": "caseinolytic mitochondrial matrix peptidase chaperone subunit B", "type": "synonym" }, { "name": "caseinolytic peptidase B protein homolog", "type": "synonym" }, { "name": "mitochondrial disaggregase", "type": "synonym" }, { "name": "suppressor of K+ transport defect 3", "type": "synonym" }, { "name": "suppressor of potassium transport defect 3", "type": "synonym" } ], "gene_names": [ { "name": "Clpb", "type": "recommended" }, { "name": "Clpb", "type": "synonym" }, { "name": "Skd3", "type": "synonym" } ], "record_id": 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050590" } ] }, { "uniprot_canonical_ac": "Q9H078-1", "uniprot_ac": "Q9H078", "uniprot_id": "CLPB_HUMAN", "refseq_ac": "NP_001245321", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Mitochondrial disaggregase", "type": "recommended" }, { "name": "3.6.1.-", "type": "synonym" }, { "name": "ClpB caseinolytic peptidase B homolog", "type": "synonym" }, { "name": "ClpB homolog, mitochondrial AAA ATPase chaperonin", "type": "synonym" }, { "name": "Suppressor of potassium transport defect 3", "type": "synonym" }, { "name": "ankyrin-repeat containing bacterial clp fusion", "type": "synonym" }, { "name": "caseinolytic mitochondrial matrix peptidase chaperone subunit B", "type": "synonym" }, { "name": "caseinolytic peptidase B protein homolog", "type": "synonym" }, { "name": "mitochondrial disaggregase isoform 2", "type": "synonym" }, { "name": "mitochondrial disaggregase", "type": "synonym" }, { "name": "suppressor of potassium transport defect 3", "type": "synonym" }, { "name": "testicular secretory protein Li 11", "type": "synonym" } ], "gene_names": [ { "name": "CLPB", "type": "recommended" }, { "name": "ANKCLB", "type": "synonym" }, { "name": "ANKCLP", "type": "synonym" }, { "name": "CLPB", "type": "synonym" }, { "name": "HSP78", "type": "synonym" }, { "name": "MEGCANN", "type": "synonym" }, { "name": "MGCA7A", "type": "synonym" }, { "name": "MGCA7", "type": "synonym" }, { "name": "SCN9", "type": "synonym" }, { "name": "SKD3", "type": "synonym" } ], "record_id": "Q9H078-1", "evidence": [ { "id": "0050590", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050590" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0050590" }