# terms

id: PATO:0001159
data:
  {"annotation_feature_type":"gene","cv_name":"quality","definition":"A concentration quality inhering in a bearer by virtue of the bearer's exhibiting concentration.","definition_xrefs":["PATOC:GVG"],"direct_ancestors":[{"relation_name":"is_a","term_name":"concentration of","termid":"PATO:0000033"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"concentrated","termid":"PATO:0001159"}


id: MONDO:0014115
data:
  {"annotated_genes":["SJAG_01197"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[85390],"is_not":false,"summary":null,"term":"MONDO:0014115"}]},"cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"leukodystrophy","termid":"MONDO:0019046"}],"gene_count":1,"genes_by_uniquename":{"SJAG_01197":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005559"}],"interesting_parent_ids":["MONDO:0005559"],"is_obsolete":false,"name":"hypomyelination with brain stem and spinal cord involvement and leg spasticity","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["GARD:17554","MEDGEN:1667792","UMLS:C4755254","Orphanet:363412","OMIM:615281"],"synonyms":[{"name":"HBSL","type":"exact"},{"name":"aspartyl-tRNA synthetase deficiency","type":"related"},{"name":"hypomyelination with brainstem and spinal cord involvement and leg spasticity","type":"related"}],"termid":"MONDO:0014115","terms_by_termid":{"MONDO:0014115":null},"xrefs":{"Monarch":{"xref_id":"0014115"}}}


id: PBO:0088657
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"18S rRNA endonuclease Utp24","termid":"PBO:0088657"}


id: PBO:0040895
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"BMPR1B divergent transcript","termid":"PBO:0040895"}


id: PBO:0048925
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"golgin A8 family member V, pseudogene","termid":"PBO:0048925"}


id: PBO:0084088
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Guanine nucleotide exchange factor (GEF); activates Sar1p by catalyzing the exchange of GDP for GTP; required for the initiation of COPII vesicle formation in ER to Golgi transport; glycosylated integral membrane protein of the ER; SEC12 has a paralog, SED4, that arose from the whole genome duplication","termid":"PBO:0084088"}


id: SO:0000117
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","gene_count":0,"genotype_count":0,"name":"OBSOLETE SO:0000117 transcript_with_readthrough_stop_codon (obsolete SO:0000117)","termid":"SO:0000117"}


id: MONDO:0007936
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"corneal dystrophy","termid":"MONDO:0018102"},{"relation_name":"is_a","term_name":"hereditary macular dystrophy","termid":"MONDO:0020242"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005328"}],"interesting_parent_ids":["MONDO:0005328"],"is_obsolete":false,"name":"macular dystrophy, fenestrated sheen type","secondary_identifiers":["OMIM:153890","MEDGEN:331921","UMLS:C1835173","MESH:C563607"],"synonyms":[{"name":"macular dystrophy, fenestrated sheen type","type":"exact"}],"termid":"MONDO:0007936","xrefs":{"Monarch":{"xref_id":"0007936"}}}


id: PBO:0062798
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ORMDL sphingolipid biosynthesis regulator 3","termid":"PBO:0062798"}


id: GO:1901744
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the formation of 2-deoxystreptamine.","definition_xrefs":["UniPathway:UPA00907","GOC:yaf","GOC:TermGenie"],"direct_ancestors":[{"relation_name":"is_a","term_name":"polyol biosynthetic process","termid":"GO:0046173"},{"relation_name":"is_a","term_name":"2-deoxystreptamine metabolic process","termid":"GO:1901742"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0044281"}],"interesting_parent_ids":["GO:0008150","GO:0044281"],"is_obsolete":false,"name":"2-deoxystreptamine biosynthetic process","synonyms":[{"name":"2-deoxystreptamine anabolism","type":"exact"},{"name":"2-deoxystreptamine biosynthesis","type":"exact"},{"name":"2-deoxystreptamine formation","type":"exact"},{"name":"2-deoxystreptamine synthesis","type":"exact"}],"termid":"GO:1901744"}


id: PBO:0088819
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"C-methyltransferase","termid":"PBO:0088819"}


id: PBO:0071481
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein L32 pseudogene 22","termid":"PBO:0071481"}


id: PBO:0071195
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein L23a pseudogene 36","termid":"PBO:0071195"}


id: PBO:0028380
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-abnormal_hypoxanthine_DNA_N-glycosylase_activity","termid":"PBO:0028380"}


id: PBO:0054523
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"long intergenic non-protein coding RNA 1923","termid":"PBO:0054523"}


id: MONDO:0006729
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the aortic valve, anywhere between the aortic valve and the mitral valve. It is characterized by restricted outflow from the left ventricle into the aorta.","definition_xrefs":["MESH:D021922"],"direct_ancestors":[{"relation_name":"is_a","term_name":"subvalvular aortic stenosis","termid":"MONDO:0006987"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005267"}],"interesting_parent_ids":["MONDO:0005267"],"is_obsolete":false,"name":"discrete subaortic stenosis","secondary_identifiers":["MEDGEN:3867","DOID:5804","UMLS:C0012628"],"termid":"MONDO:0006729","xrefs":{"Monarch":{"xref_id":"0006729"}}}


id: MONDO:0012842
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"hereditary disease","termid":"MONDO:0003847"},{"relation_name":"excluded_subClassOf","term_name":"familial melanoma","termid":"MONDO:0018961"},{"relation_name":"excluded_subClassOf","term_name":"susceptibility to familial cutaneous melanoma","termid":"MONDO:0024462"},{"relation_name":"is_a","term_name":"susceptibility to familial cutaneous melanoma","termid":"MONDO:0024462"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"melanoma, cutaneous malignant, susceptibility to, 7","secondary_identifiers":["MEDGEN:394200","OMIM:612263","UMLS:C2677089"],"synonyms":[{"name":"CMM7","type":"exact"},{"name":"melanoma, cutaneous malignant, 7","type":"exact"},{"name":"melanoma, cutaneous malignant, susceptibility to, 7","type":"exact"}],"termid":"MONDO:0012842","xrefs":{"Monarch":{"xref_id":"0012842"}}}


id: MONDO:0007692
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete hairy ears (obsolete MONDO:0007692)","secondary_identifiers":["MESH:C562484","OMIM:139500","SCTID:89000008"],"synonyms":[{"name":"hairy ears","type":"exact"},{"name":"hypertrichosis pinnae auris","type":"related"}],"termid":"MONDO:0007692","xrefs":{"Monarch":{"xref_id":"0007692"}}}


id: PBO:0044717
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"DEAD/H-box helicase 11 like 4 (pseudogene)","termid":"PBO:0044717"}


id: PBO:0084020
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Glycosylphosphatidylinositol-alpha 1,4 mannosyltransferase I; involved in GPI anchor biosynthesis, requires Pbn1p for function; homolog of mammalian PIG-M","termid":"PBO:0084020"}


id: PBO:0112595
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"cytochrome c oxidase assembly protein, copper-binding, Cmc2","termid":"PBO:0112595"}


id: GO:0043602
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the breakdown of nitrates, inorganic or organic salts and esters of nitric acid.","definition_xrefs":["GOC:jl"],"direct_ancestors":[{"relation_name":"is_a","term_name":"catabolic process","termid":"GO:0009056"},{"relation_name":"is_a","term_name":"nitrate metabolic process","termid":"GO:0042126"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0044281"}],"interesting_parent_ids":["GO:0044281","GO:0008150"],"is_obsolete":false,"name":"nitrate catabolic process","synonyms":[{"name":"nitrate disassimilation","type":"exact"},{"name":"nitrate dissimilation","type":"exact"}],"termid":"GO:0043602"}


id: PBO:0069700
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U6 small nuclear 979, pseudogene","termid":"PBO:0069700"}


id: RO:0002559
data:
  {"annotation_feature_type":"gene","cv_name":"relationship","direct_ancestors":[{"relation_name":"is_a","term_name":"causal_relation_between_material_entities","termid":"RO:0002506"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"causally_influenced_by","termid":"RO:0002559"}


id: MONDO:0009598
data:
  {"annotated_genes":["SJAG_00602"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[85808],"is_not":false,"summary":null,"term":"MONDO:0009598"}]},"cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"syndromic disease","termid":"MONDO:0002254"},{"relation_name":"is_a","term_name":"osteochondrodysplasia","termid":"MONDO:0005516"},{"relation_name":"is_a","term_name":"skeletal dysplasia","termid":"MONDO:0018230"}],"gene_count":1,"genes_by_uniquename":{"SJAG_00602":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005497"}],"interesting_parent_ids":["MONDO:0005497"],"is_obsolete":false,"name":"metaphyseal chondrodysplasia-retinitis pigmentosa syndrome","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["UMLS:C1855188","OMIM:250410","Orphanet:166035","MESH:C565398","MEDGEN:381579","GARD:17017"],"synonyms":[{"name":"RPSKA","type":"related"},{"name":"brachydactyly-short stature-retinitis pigmentosa syndrome","type":"related"},{"name":"metaphyseal chondrodysplasia with retinitis pigmentosa","type":"related"},{"name":"retinitis pigmentosa with or without skeletal anomalies","type":"related"}],"termid":"MONDO:0009598","terms_by_termid":{"MONDO:0009598":null},"xrefs":{"Monarch":{"xref_id":"0009598"}}}


id: GO:0052871
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: (+)-alpha-tocopherol + O2 + reduced [NADPH--hemoprotein reductase] = 13-hydroxy-alpha-tocopherol + H+ + H2O + oxidized [NADPH--hemoprotein reductase].","definition_xrefs":["RHEA:45108"],"direct_ancestors":[{"relation_name":"is_a","term_name":"oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen","termid":"GO:0016712"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0016491"},{"rel_name":"is_a","termid":"GO:0003824"}],"interesting_parent_ids":["GO:0003824","GO:0016491","GO:0003674"],"is_obsolete":false,"name":"alpha-tocopherol omega-hydroxylase activity","secondary_identifiers":["MetaCyc:RXN-11003"],"synonyms":[{"name":"alpha-tocopherol 13-hydroxylase activity","type":"exact"}],"termid":"GO:0052871"}


id: PBO:0043661
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"coenzyme Q6, monooxygenase","termid":"PBO:0043661"}


id: CHEBI:76243
data:
  {"annotation_feature_type":"gene","cv_name":"chebi_ontology","direct_ancestors":[{"relation_name":"is_a","term_name":"chemical entity","termid":"CHEBI:24431"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ferrous ammonium sulfate (anhydrous)","termid":"CHEBI:76243"}


id: PBO:0109311
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"lncRNA oncogene in liver cancer 1","termid":"PBO:0109311"}


id: PBO:0072208
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein S18 pseudogene 7","termid":"PBO:0072208"}


id: PBO:0090609
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"mitochondrial ribosomal protein subunit S18","termid":"PBO:0090609"}


id: PBO:0057854
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 3165","termid":"PBO:0057854"}


id: PBO:0046762
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"exosome component 3 pseudogene 1","termid":"PBO:0046762"}


id: GO:0060477
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine that is part of the acrosome reaction.","definition_xrefs":["GOC:dph"],"gene_count":0,"genotype_count":0,"name":"obsolete peptidyl-serine phosphorylation involved in acrosome reaction (obsolete GO:0060477)","termid":"GO:0060477"}


id: MONDO:0040671
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"G6PD deficiency","termid":"MONDO:0005775"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0037792"},{"rel_name":"is_a","termid":"MONDO:0005066"}],"interesting_parent_ids":["MONDO:0005066","MONDO:0037792"],"is_obsolete":false,"name":"class V glucose-6-phosphate dehydrogenase deficiency","secondary_identifiers":["Orphanet:362","MEDGEN:543772","SCTID:80963002","UMLS:C0272060"],"synonyms":[{"name":"G6PD class V variant anaemia","type":"exact"},{"name":"G6PD class V variant anemia","type":"exact"},{"name":"G6PD deficiency","type":"broad"},{"name":"favism","type":"related"},{"name":"glucose-6-phosphate dehydrogenase deficiency class V variant anaemia","type":"exact"},{"name":"glucose-6-phosphate dehydrogenase deficiency class V variant anemia","type":"exact"}],"termid":"MONDO:0040671","xrefs":{"Monarch":{"xref_id":"0040671"}}}


id: PBO:0051630
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"inner mitochondrial membrane peptidase subunit 1","termid":"PBO:0051630"}


id: MONDO:0017920
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance).","definition_xrefs":["Orphanet:3224"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"syndromic intellectual disability","termid":"MONDO:0000508"},{"relation_name":"is_a","term_name":"syndromic disease","termid":"MONDO:0002254"},{"relation_name":"is_a","term_name":"multiple congenital anomalies/dysmorphic syndrome-intellectual disability","termid":"MONDO:0015159"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome","secondary_identifiers":["MESH:C537887","SCTID:721086004","MEDGEN:419464","UMLS:C2931654","GARD:4303"],"synonyms":[{"name":"Pfeiffer Kapferer syndrome","type":"related"},{"name":"Pfeiffer-Kapferer syndrome","type":"exact"},{"name":"sensorineural deafness, hypospadias, and synostosis of metacarpals and metatarsals 4 and 5","type":"related"},{"name":"short stature, intellectual disability and multiple dysmorphisms","type":"related"},{"name":"short stature, mental retardation and multiple dysmorphisms","type":"related"}],"termid":"MONDO:0017920","xrefs":{"Monarch":{"xref_id":"0017920"}}}


id: GO:0061588
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The movement of a population of phospholipid molecules from one leaflet of the plasma membrane bilayer to the opposite leaflet as a result of a calcium stimulus.","definition_xrefs":["GOC:krc","PMID:23532839"],"direct_ancestors":[{"relation_name":"is_a","term_name":"plasma membrane phospholipid scrambling","termid":"GO:0017121"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0061024"},{"rel_name":"is_a","termid":"GO:0051179"},{"rel_name":"is_a","termid":"GO:0006810"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0061024","GO:0051179","GO:0006810","GO:0008150"],"is_obsolete":false,"name":"calcium activated phospholipid scrambling","termid":"GO:0061588"}


id: PBO:0047662
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"FKBP14 antisense RNA 1","termid":"PBO:0047662"}


id: PBO:0027185
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-normal_actomyosin_contractile_ring","termid":"PBO:0027185"}


id: PBO:0046993
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"family with sequence similarity 88 member D","termid":"PBO:0046993"}


id: PBO:0026720
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-decreased_histone_H3_localization_to_chromatin_at_protein_coding_gene","termid":"PBO:0026720"}


id: MONDO:0007686
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear.","definition_xrefs":["Orphanet:721"],"direct_ancestors":[{"relation_name":"is_a","term_name":"inherited bleeding disorder, platelet-type","termid":"MONDO:0000009"},{"relation_name":"is_a","term_name":"syndromic disease","termid":"MONDO:0002254"},{"relation_name":"is_a","term_name":"alpha granule disease","termid":"MONDO:0020117"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005570"}],"interesting_parent_ids":["MONDO:0005570"],"is_obsolete":false,"name":"gray platelet syndrome","secondary_identifiers":["MEDGEN:82900","MESH:D055652","GARD:2562","SCTID:51720005","icd11.foundation:1818085572","NCIT:C84741","DOID:0111044","OMIM:139090","UMLS:C0272302"],"synonyms":[{"name":"Alpha storage pool deficiency","type":"exact"},{"name":"BDPLT4","type":"exact"},{"name":"GPS","type":"exact"},{"name":"bleeding disorder, Platelet-type, 4","type":"related"},{"name":"gray platelet syndrome","type":"exact"},{"name":"marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins","type":"related"},{"name":"platelet alpha-granule deficiency","type":"exact"},{"name":"platelet-type bleeding disorder 4","type":"exact"}],"termid":"MONDO:0007686","xrefs":{"Monarch":{"xref_id":"0007686"}}}


id: PBO:0078055
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"T cell receptor alpha joining 45","termid":"PBO:0078055"}


id: MONDO:0011628
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.","definition_xrefs":["Orphanet:35"],"direct_ancestors":[{"relation_name":"is_a","term_name":"classic organic aciduria","termid":"MONDO:0019215"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0004736"},{"rel_name":"is_a","termid":"MONDO:0005066"}],"interesting_parent_ids":["MONDO:0005066","MONDO:0004736"],"is_obsolete":false,"name":"propionic acidemia","secondary_identifiers":["NANDO:1200792","GARD:467","MEDGEN:75694","MESH:D056693","NANDO:2200492","NCIT:C85030","OMIM:606054","UMLS:C0268579","SCTID:69080001","NORD:714","ICD10CM:E71.121","DOID:14701"],"synonyms":[{"name":"GLYCINEMIA, ketotic","type":"exact"},{"name":"Glycinemia, ketotic","type":"related"},{"name":"PCC deficiency","type":"related"},{"name":"Propionicacidemia","type":"related"},{"name":"hyperglycinemia with ketoacidosis and leukopenia","type":"related"},{"name":"ketotic II glycinemia","type":"exact"},{"name":"ketotic glycinemia","type":"exact"},{"name":"ketotic hyperglycinemia","type":"exact"},{"name":"prop","type":"related"},{"name":"propionic acidemia","type":"exact"},{"name":"propionic aciduria","type":"exact"},{"name":"propionyl-CoA carboxylase deficiency","type":"exact"},{"name":"propionyl-Coa carboxylase deficiency","type":"related"}],"termid":"MONDO:0011628","xrefs":{"Monarch":{"xref_id":"0011628"}}}


id: PBO:0058776
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 7110","termid":"PBO:0058776"}


id: PBO:0012258
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"20S proteiasome complex subunit beta 6","termid":"PBO:0012258"}


id: PBO:0075411
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"sperm acrosome associated 7","termid":"PBO:0075411"}


id: GO:0090556
data:
  {"annotated_genes":["SJAG_01945","SJAG_02897","SJAG_05209","SJAG_01731"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[94768,98262,99807,112809],"is_not":false,"summary":null,"term":"GO:0090556"}]},"cv_name":"molecular_function","definition":"Catalysis of the movement of phosphatidylserine from the cytosolic to the exoplasmic leaflet of a membrane, using energy from the hydrolysis of ATP.","definition_xrefs":["PMID:16452632","PMID:20224745","RHEA:38567","GOC:ab"],"direct_ancestors":[{"relation_name":"is_a","term_name":"phospholipid transporter activity","termid":"GO:0005548"},{"relation_name":"is_a","term_name":"floppase activity","termid":"GO:0140328"}],"gene_count":4,"genes_by_uniquename":{"SJAG_01731":null,"SJAG_01945":null,"SJAG_02897":null,"SJAG_05209":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0140303"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0005215"}],"interesting_parent_ids":["GO:0140303","GO:0003674","GO:0005215"],"is_obsolete":false,"name":"phosphatidylserine floppase activity","references_by_uniquename":{"GO_REF:0000107":null},"synonyms":[{"name":"ATPase-coupled phosphatidylserine transporter activity","type":"broad"},{"name":"ATPase-dependent phosphatidylserine transporter activity","type":"broad"},{"name":"phosphatidylserine floppase activity (cytosolic to exoplasmic leaflet)","type":"exact"},{"name":"phosphatidylserine-translocating ATPase activity","type":"broad"}],"termid":"GO:0090556","terms_by_termid":{"GO:0090556":null}}


id: PBO:0038428
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"alpha 1,3-galactosyltransferase 2","termid":"PBO:0038428"}


id: MONDO:0001423
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"substance-induced psychosis","termid":"MONDO:0004630"},{"relation_name":"is_a","term_name":"mental disorder","termid":"MONDO:0005084"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"drug-induced mental disorder","secondary_identifiers":["MEDGEN:1843491","UMLS:C0154330","ICD9:292.89","ICD9:292.8","DOID:1203"],"termid":"MONDO:0001423","xrefs":{"Monarch":{"xref_id":"0001423"}}}


id: FYPO:0007516
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cell phenotype observed in the vegetative growth phase of the life cycle in which DNA occupies a smaller portion of the total nuclear volume than normal. The nuclear volume itself may be normal.","definition_xrefs":["PMID:33153481","PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal subcellular component during vegetative growth","termid":"FYPO:0001322"},{"relation_name":"is_a","term_name":"abnormal nucleus","termid":"FYPO:0002403"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0002403"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0001320"}],"interesting_parent_ids":["FYPO:0000002","FYPO:0002403","FYPO:0001985","FYPO:0001320"],"is_obsolete":false,"name":"decreased DNA volume","synonyms":[{"name":"decreased DNA volume during mitotic cell cycle","type":"related"},{"name":"decreased DNA volume during vegetative growth","type":"exact"},{"name":"reduced DNA volume","type":"exact"}],"termid":"FYPO:0007516"}


id: MONDO:0021879
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A histologic variant of anaplastic large cell lymphoma characterized by the presence of a predominant population of small to medium size malignant cells with irregular nuclei.","definition_xrefs":["NCIT:C7208"],"direct_ancestors":[{"relation_name":"is_a","term_name":"anaplastic large cell lymphoma","termid":"MONDO:0020325"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005570"}],"interesting_parent_ids":["MONDO:0005570"],"is_obsolete":false,"name":"small cell variant anaplastic large cell lymphoma","secondary_identifiers":["MEDGEN:234787","MESH:C538255","UMLS:C1335983","GARD:9477"],"synonyms":[{"name":"anaplastic small cell lymphoma","type":"related"},{"name":"small cell variant anaplastic large cell lymphoma","type":"exact"},{"name":"small cell variant of anaplastic large cell lymphoma","type":"exact"}],"termid":"MONDO:0021879","xrefs":{"Monarch":{"xref_id":"0021879"}}}


id: PBO:0053074
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ladybird homeobox 1","termid":"PBO:0053074"}


id: GO:0004725
data:
  {"annotated_genes":["SJAG_01667","SJAG_02013","SJAG_02000","SJAG_01161","SJAG_04166","SJAG_00082","SJAG_00214","SJAG_03263","SJAG_04332"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[72388,73221,73888,105542,112664],"is_not":false,"summary":null,"term":"GO:0004725"},{"annotations":[71322,92002,95371],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0033550"},{"annotations":[63153],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0004726"}]},"cv_name":"molecular_function","definition":"Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate.","definition_xrefs":["EC:3.1.3.48"],"direct_ancestors":[{"relation_name":"is_a","term_name":"phosphoprotein phosphatase activity","termid":"GO:0004721"}],"gene_count":9,"genes_by_uniquename":{"SJAG_00082":null,"SJAG_00214":null,"SJAG_01161":null,"SJAG_01667":null,"SJAG_02000":null,"SJAG_02013":null,"SJAG_03263":null,"SJAG_04166":null,"SJAG_04332":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0016787"},{"rel_name":"is_a","termid":"GO:0016788"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0140096"},{"rel_name":"is_a","termid":"GO:0004721"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0016787","GO:0004721","GO:0003674","GO:0140096","GO:0016788","GO:0003824"],"is_obsolete":false,"name":"protein tyrosine phosphatase activity","references_by_uniquename":{"GO_REF:0000002":null,"GO_REF:0000033":null,"GO_REF:0000107":null},"secondary_identifiers":["Reactome:R-HSA-1549564","Reactome:R-HSA-74747","Reactome:R-HSA-9865167","RHEA:10684","Reactome:R-HSA-997314","Reactome:R-HSA-8864125","Reactome:R-HSA-9603719","Reactome:R-HSA-8864036","Reactome:R-HSA-74733","Reactome:R-HSA-8864029","Reactome:R-HSA-391868","Reactome:R-HSA-389758","Reactome:R-HSA-8849435","Reactome:R-HSA-6807027","Reactome:R-HSA-9635461","Reactome:R-HSA-997309","MetaCyc:PROTEIN-TYROSINE-PHOSPHATASE-RXN","Reactome:R-HSA-8867658","Reactome:R-HSA-8855381","Reactome:R-HSA-9701507","Reactome:R-HSA-5683967","Reactome:R-HSA-9700200","Reactome:R-HSA-1169192","Reactome:R-HSA-8852200","Reactome:R-HSA-914036","Reactome:R-HSA-8863804","Reactome:R-HSA-203797","Reactome:R-HSA-997311","Reactome:R-HSA-1169210","Reactome:R-HSA-877308","Reactome:R-HSA-6807008","Reactome:R-HSA-8937767","Reactome:R-HSA-9636439","Reactome:R-HSA-202214","Reactome:R-HSA-445089","Reactome:R-HSA-8867047","Reactome:R-HSA-74748","Reactome:R-HSA-9674816","Reactome:R-HSA-9698408","Reactome:R-HSA-997326","Reactome:R-HSA-1169188","Reactome:R-HSA-377643"],"synonyms":[{"name":"PPT-phosphatase activity","type":"related"},{"name":"PTP-phosphatase activity","type":"related"},{"name":"PTPase activity","type":"related"},{"name":"[phosphotyrosine]protein phosphatase activity","type":"related"},{"name":"phosphoprotein phosphatase (phosphotyrosine) activity","type":"related"},{"name":"phosphotyrosine histone phosphatase activity","type":"related"},{"name":"phosphotyrosine phosphatase activity","type":"related"},{"name":"phosphotyrosine protein phosphatase activity","type":"related"},{"name":"phosphotyrosylprotein phosphatase activity","type":"related"},{"name":"protein phosphotyrosine phosphatase activity","type":"related"},{"name":"protein-tyrosine-phosphatase activity","type":"related"},{"name":"protein-tyrosine-phosphate phosphohydrolase activity","type":"related"},{"name":"tyrosine O-phosphate phosphatase activity","type":"related"},{"name":"tyrosylprotein phosphatase activity","type":"related"}],"termid":"GO:0004725","terms_by_termid":{"GO:0004725":null,"GO:0004726":null,"GO:0033550":null}}


id: FYPO:0001596
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cellular process phenotype observed in the vegetative growth phase of the life cycle in which amino acid import into the cell is normal (i.e. indistinguishable from wild type).","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"normal transport","termid":"FYPO:0001071"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0001312"},{"rel_name":"is_a","termid":"FYPO:0000257"},{"rel_name":"is_a","termid":"FYPO:0000138"}],"interesting_parent_ids":["FYPO:0000257","FYPO:0001320","FYPO:0001312","FYPO:0000138","FYPO:0000002"],"is_obsolete":false,"name":"normal amino acid import","synonyms":[{"name":"normal amino acid import across plasma membrane","type":"exact"},{"name":"normal amino acid import during mitotic cell cycle","type":"related"},{"name":"normal amino acid import during vegetative growth","type":"exact"},{"name":"normal amino acid import into cell","type":"exact"},{"name":"normal amino acid uptake","type":"exact"}],"termid":"FYPO:0001596"}


id: GO:0102679
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: H+ + (5alpha)-campestan-3-one + O2 + NADPH = (5alpha,22S,24R)-22-hydroxyergostan-3-one + H2O + NADP.","definition_xrefs":["PMID:10377996","GOC:pz"],"direct_ancestors":[{"relation_name":"is_a","term_name":"oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen","termid":"GO:0016709"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0016491"}],"interesting_parent_ids":["GO:0003674","GO:0003824","GO:0016491"],"is_obsolete":false,"name":"(5alpha)-campestan-3-one hydroxylase activity","secondary_identifiers":["MetaCyc:RXN-4230"],"termid":"GO:0102679"}


id: FYPO:0000199
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A DNA recombination phenotype observed in the vegetative growth phase of the life cycle in which the occurrence of long tract gene conversion is increased.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"increased gene conversion during vegetative growth","termid":"FYPO:0005788"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000293"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0000002"}],"interesting_parent_ids":["FYPO:0001985","FYPO:0005447","FYPO:0000293","FYPO:0001320","FYPO:0000002"],"is_obsolete":false,"name":"increased long tract gene conversion","synonyms":[{"name":"DNA recombination defects, long tract gene conversion, increased","type":"exact"},{"name":"increased long tract gene conversion during mitotic cell cycle","type":"related"},{"name":"increased long tract gene conversion during vegetative growth","type":"exact"}],"termid":"FYPO:0000199"}


id: PBO:0053830
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"long intergenic non-protein coding RNA 1095","termid":"PBO:0053830"}


id: PBO:0077493
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"TMEM212 intronic transcript 1","termid":"PBO:0077493"}


id: PBO:0031475
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-growth_auxotrophic_for_adenine","termid":"PBO:0031475"}


id: PBO:0043763
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"COX11 pseudogene 1","termid":"PBO:0043763"}


id: PBO:0058100
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 4315-2","termid":"PBO:0058100"}


id: GO:1900691
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that activates or increases the frequency, rate or extent of gliotoxin biosynthetic process.","definition_xrefs":["GOC:di","GOC:TermGenie"],"direct_ancestors":[{"relation_name":"is_a","term_name":"positive regulation of amide metabolic process","termid":"GO:0034250"},{"relation_name":"is_a","term_name":"positive regulation of sulfur metabolic process","termid":"GO:0051176"},{"relation_name":"is_a","term_name":"positive regulation of secondary metabolite biosynthetic process","termid":"GO:1900378"},{"relation_name":"is_a","term_name":"regulation of gliotoxin biosynthetic process","termid":"GO:1900689"},{"relation_name":"positively_regulates","term_name":"gliotoxin biosynthetic process","termid":"GO:2001310"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"regulates","termid":"GO:0006790"},{"rel_name":"regulates","termid":"GO:0019748"},{"rel_name":"positively_regulates","termid":"GO:0019748"},{"rel_name":"positively_regulates","termid":"GO:0006790"}],"interesting_parent_ids":["GO:0006790","GO:0019748","GO:0008150"],"is_obsolete":false,"name":"positive regulation of gliotoxin biosynthetic process","synonyms":[{"name":"activation of gliotoxin anabolism","type":"exact"},{"name":"activation of gliotoxin biosynthesis","type":"exact"},{"name":"activation of gliotoxin biosynthetic process","type":"narrow"},{"name":"activation of gliotoxin formation","type":"exact"},{"name":"activation of gliotoxin synthesis","type":"exact"},{"name":"positive regulation of gliotoxin anabolism","type":"exact"},{"name":"positive regulation of gliotoxin biosynthesis","type":"exact"},{"name":"positive regulation of gliotoxin formation","type":"exact"},{"name":"positive regulation of gliotoxin synthesis","type":"exact"},{"name":"up regulation of gliotoxin anabolism","type":"exact"},{"name":"up regulation of gliotoxin biosynthesis","type":"exact"},{"name":"up regulation of gliotoxin biosynthetic process","type":"exact"},{"name":"up regulation of gliotoxin formation","type":"exact"},{"name":"up regulation of gliotoxin synthesis","type":"exact"},{"name":"up-regulation of gliotoxin anabolism","type":"exact"},{"name":"up-regulation of gliotoxin biosynthesis","type":"exact"},{"name":"up-regulation of gliotoxin biosynthetic process","type":"exact"},{"name":"up-regulation of gliotoxin formation","type":"exact"},{"name":"up-regulation of gliotoxin synthesis","type":"exact"},{"name":"upregulation of gliotoxin anabolism","type":"exact"},{"name":"upregulation of gliotoxin biosynthesis","type":"exact"},{"name":"upregulation of gliotoxin biosynthetic process","type":"exact"},{"name":"upregulation of gliotoxin formation","type":"exact"},{"name":"upregulation of gliotoxin synthesis","type":"exact"}],"termid":"GO:1900691"}


id: MONDO:0020321
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A rare acute leukemia of ambiguous lineage in which the blasts do not express markers specific to myeloid or lymphoid lineage.","definition_xrefs":["NCIT:C9298"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"bilineal acute myeloid leukemia","termid":"MONDO:0011118"},{"relation_name":"is_a","term_name":"acute leukemia of ambiguous lineage","termid":"MONDO:0019460"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005570"},{"rel_name":"is_a","termid":"MONDO:0004992"},{"rel_name":"is_a","termid":"MONDO:0005046"}],"interesting_parent_ids":["MONDO:0005570","MONDO:0005046","MONDO:0004992"],"is_obsolete":false,"name":"acute undifferentiated leukemia","secondary_identifiers":["SCTID:359631009","ONCOTREE:AUL","MedDRA:10045516","NANDO:2200017","Orphanet:98835","UMLS:C0280141","MEDGEN:79081","GARD:16863"],"synonyms":[{"name":"AUL","type":"related"},{"name":"acute leukaemia not otherwise specified","type":"related"},{"name":"acute myeloid leukemia, minimal differentiation, FAB M0","type":"exact"},{"name":"acute undifferentiated leukemia","type":"exact"},{"name":"leukaemia stem cell","type":"exact"},{"name":"leukemia stem cell","type":"exact"},{"name":"stem cell acute leukaemia","type":"exact"},{"name":"stem cell acute leukemia","type":"exact"},{"name":"stem cell leukaemia","type":"exact"},{"name":"stem cell leukemia","type":"exact"},{"name":"undifferentiated acute leukaemia","type":"exact"},{"name":"undifferentiated acute leukemia","type":"exact"}],"termid":"MONDO:0020321","xrefs":{"Monarch":{"xref_id":"0020321"}}}


id: PBO:0063334
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"proliferating cell nuclear antigen","termid":"PBO:0063334"}


id: MONDO:0007084
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"alopecia, isolated","termid":"MONDO:0000005"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005093"}],"interesting_parent_ids":["MONDO:0005093"],"is_obsolete":false,"name":"familial focal alopecia","secondary_identifiers":["MEDGEN:350835","MESH:C566301","OMIM:104110","UMLS:C1863092"],"synonyms":[{"name":"ALPF","type":"related"},{"name":"alopecia, familial focal","type":"exact"}],"termid":"MONDO:0007084","xrefs":{"Monarch":{"xref_id":"0007084"}}}


id: FYPO:0007766
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A gene expression phenotype in which protein levels that normally vary over the course of the mitotic cell cycle do not vary. Total protein or a specific protein may be affected.","definition_xrefs":["PMID:9430640","PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal protein level oscillation during mitotic cell cycle","termid":"FYPO:0007765"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0001320"}],"interesting_parent_ids":["FYPO:0001320","FYPO:0000002","FYPO:0001985"],"is_obsolete":false,"name":"abolished protein level oscillation during mitotic cell cycle","synonyms":[{"name":"abolished periodic protein expression during mitotic cell cycle","type":"exact"},{"name":"abolished protein level fluctuation during mitotic cell cycle","type":"exact"},{"name":"protein level oscillation abolished during mitotic cell cycle","type":"exact"}],"termid":"FYPO:0007766"}


id: GO:0035872
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The series of molecular signals initiated by a ligand binding to a nucleotide-binding domain, leucine rich repeat containing receptor (NLR), and ending with the regulation of a downstream cellular process. NLRs are cytoplasmic receptors defined by their tripartite domain architecture that contains: a variable C-terminus, a middle nucleotide-binding domain, and a LRR domain that is variable in the repeats composition and number.","definition_xrefs":["PMID:36973360","PMID:32838963","GOC:sj","PMID:18280719"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cytoplasmic pattern recognition receptor signaling pathway","termid":"GO:0002753"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"part_of","termid":"GO:0023052"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0023052","GO:0008150"],"is_obsolete":false,"name":"nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway","secondary_identifiers":["Reactome:R-HSA-168643"],"synonyms":[{"name":"NLR signaling pathway","type":"exact"},{"name":"NOD-like receptor signaling pathway","type":"related"},{"name":"nucleotide-binding domain leucine-rich repeat containing receptor signaling pathway","type":"exact"},{"name":"nucleotide-binding domain, leucine rich repeat containing receptor signal transduction","type":"exact"},{"name":"nucleotide-binding domain, leucine rich repeat containing receptor signal transduction pathway","type":"exact"},{"name":"nucleotide-binding domain, leucine rich repeat containing receptor signalling pathway","type":"exact"}],"termid":"GO:0035872"}


id: MONDO:0800123
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"An interstitial lung disease characterized histologically by fibrosis and/or inflammation confined to the alveolar interstitium around bronchovascular bundles, overlapping with peribronchial metaplasia, fibrosis in some series and the lack of interstitial granulomas.","definition_xrefs":["PMID:26627191"],"direct_ancestors":[{"relation_name":"is_a","term_name":"pneumonia","termid":"MONDO:0005249"},{"relation_name":"is_a","term_name":"interstitial lung disease","termid":"MONDO:0015925"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"bronchiolocentric pattern of interstitial pneumonia","synonyms":[{"name":"BPIP","type":"exact"}],"termid":"MONDO:0800123","xrefs":{"Monarch":{"xref_id":"0800123"}}}


id: FYPO:0006926
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cell phenotype observed in the vegetative growth phase of the life cycle in which the ratio of the nuclear volume to the total cell volume is greater than normal (the ration observed in wild type is approximately 0.076-0.089).","definition_xrefs":["PomBase:mah","PMID:31015410"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal cellular physical quality phenotype during vegetative growth","termid":"FYPO:0004639"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0000002"}],"interesting_parent_ids":["FYPO:0001985","FYPO:0000002","FYPO:0001320"],"is_obsolete":false,"name":"increased nucleus:cytoplasm ratio","synonyms":[{"name":"increased nuclear:cytoplasmic ratio","type":"exact"},{"name":"increased nuclear:cytoplasmic volume ratio","type":"exact"},{"name":"increased nucleus:cell volume ratio","type":"exact"},{"name":"increased nucleus:cytoplasm ratio during mitotic cell cycle","type":"related"},{"name":"increased nucleus:cytoplasm ratio during vegetative growth","type":"exact"},{"name":"increased nucleus:cytoplasm volume ratio","type":"exact"}],"termid":"FYPO:0006926"}


id: GO:1990663
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: (S)-dihydroorotate + fumarate = orotate + succinate.","definition_xrefs":["RHEA:30059","PMID:1409592"],"direct_ancestors":[{"relation_name":"is_a","term_name":"dihydroorotate dehydrogenase activity","termid":"GO:0004152"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0016491"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0003824","GO:0003674","GO:0016491"],"is_obsolete":false,"name":"dihydroorotate dehydrogenase (fumarate) activity","secondary_identifiers":["EC:1.3.98.1"],"termid":"GO:1990663"}


id: GO:0052826
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: myo-inositol hexakisphosphate + H2O = myo-inositol 1,3,4,5,6-pentakisphosphate + phosphate.","definition_xrefs":["GOC:curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"inositol-hexakisphosphate phosphatase activity","termid":"GO:0004446"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0016788"},{"rel_name":"is_a","termid":"GO:0016787"}],"interesting_parent_ids":["GO:0016788","GO:0003674","GO:0016787","GO:0003824"],"is_obsolete":false,"name":"inositol hexakisphosphate 2-phosphatase activity","secondary_identifiers":["Reactome:R-HSA-1855225"],"termid":"GO:0052826"}


id: GO:1900133
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of renin secretion into blood stream.","definition_xrefs":["GOC:TermGenie"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of systemic arterial blood pressure","termid":"GO:0003073"},{"relation_name":"is_a","term_name":"regulation of endocrine process","termid":"GO:0044060"},{"relation_name":"is_a","term_name":"regulation of protein secretion","termid":"GO:0050708"},{"relation_name":"is_a","term_name":"regulation of renal system process","termid":"GO:0098801"},{"relation_name":"regulates","term_name":"renin secretion into blood stream","termid":"GO:0002001"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"regulates","termid":"GO:0006810"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0006810","GO:0008150"],"is_obsolete":false,"name":"regulation of renin secretion into blood stream","synonyms":[{"name":"regulation of renin release into blood stream","type":"exact"}],"termid":"GO:1900133"}


id: MONDO:0000024
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete exostoses, multiple (obsolete MONDO:0000024)","termid":"MONDO:0000024","xrefs":{"Monarch":{"xref_id":"0000024"}}}


id: PBO:0109022
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Gfo/Idh/MocA-like oxidoreductase domain containing 2","termid":"PBO:0109022"}


id: MONDO:0045034
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"disease characteristic","termid":"MONDO:0021125"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"infectious disease characteristic","termid":"MONDO:0045034","xrefs":{"Monarch":{"xref_id":"0045034"}}}


id: PBO:0075221
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"SNW domain containing 1","termid":"PBO:0075221"}


id: GO:0006865
data:
  {"annotated_genes":["SJAG_03827","SJAG_00626","SJAG_04296","SJAG_04715","SJAG_01336","SJAG_04984","SJAG_04135","SJAG_04957","SJAG_00543","SJAG_04903","SJAG_06598","SJAG_01998","SJAG_04983","SJAG_02605","SJAG_04787","SJAG_00051","SJAG_01770","SJAG_04295","SJAG_00522","SJAG_01923","SJAG_02941","SJAG_03400","SJAG_02716","SJAG_00991","SJAG_03899","SJAG_02946","SJAG_04725","SJAG_05342","SJAG_02029","SJAG_00019","SJAG_01096","SJAG_02062","SJAG_02113","SJAG_02947","SJAG_02133","SJAG_02955","SJAG_01994","SJAG_00149","SJAG_00015","SJAG_00877","SJAG_04588","SJAG_03591","SJAG_02150","SJAG_05346","SJAG_03256","SJAG_03829","SJAG_01636","SJAG_04637","SJAG_03970","SJAG_04718"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[77393],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0032974"},{"annotations":[100349,80565,77173,118557,78020,96031,80282,103843,118555,80729,118556,76543,78197,118558,118560,118561,73565,90045,118559,79043,118554,77187,75873,75703],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0003333"},{"annotations":[110336,103116],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1990591"},{"annotations":[90734],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0034488"},{"annotations":[94928],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0034490"},{"annotations":[104342,104341,104343,97668,104340],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1990822"},{"annotations":[63674],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1903712"},{"annotations":[63576],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0006868"},{"annotations":[70291,98549],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1904983"},{"annotations":[110337,103117],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1903714"},{"annotations":[96357],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1902475"},{"annotations":[100681],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0097638"},{"annotations":[97684],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1990818"},{"annotations":[104148],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0090518"},{"annotations":[63577,99149],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1903826"},{"annotations":[96889],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0070778"},{"annotations":[98550],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0110141"},{"annotations":[104149],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1901481"},{"annotations":[104150],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0090515"},{"annotations":[96890],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0015813"},{"annotations":[97685],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0089708"},{"annotations":[104151],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0090513"},{"annotations":[100682],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0097639"},{"annotations":[103118,104152],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1901482"},{"annotations":[97686],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0089707"},{"annotations":[110338],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0090517"},{"annotations":[104154],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0090516"},{"annotations":[65875],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0015825"},{"annotations":[104155],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0090514"},{"annotations":[108221],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1990575"},{"annotations":[88432],"is_not":false,"rel_names":["negatively_regulates","regulates"],"summary":null,"term":"GO:1905533"},{"annotations":[93674,99204,92080,110851],"is_not":false,"rel_names":["positively_regulates","regulates"],"summary":null,"term":"GO:1905589"},{"annotations":[93675,92081,99205],"is_not":false,"rel_names":["positively_regulates","regulates"],"summary":null,"term":"GO:1905534"},{"annotations":[93676],"is_not":false,"rel_names":["positively_regulates","regulates"],"summary":null,"term":"GO:1905626"},{"annotations":[101537,100675],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1905647"},{"annotations":[90956],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0140300"},{"annotations":[63575],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0015828"}]},"cv_name":"biological_process","definition":"The directed movement of amino acids, organic acids containing one or more amino substituents, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.","definition_xrefs":["GOC:ai"],"direct_ancestors":[{"relation_name":"is_a","term_name":"transport","termid":"GO:0006810"}],"gene_count":50,"genes_by_uniquename":{"SJAG_00015":null,"SJAG_00019":null,"SJAG_00051":null,"SJAG_00149":null,"SJAG_00522":null,"SJAG_00543":null,"SJAG_00626":null,"SJAG_00877":null,"SJAG_00991":null,"SJAG_01096":null,"SJAG_01336":null,"SJAG_01636":null,"SJAG_01770":null,"SJAG_01923":null,"SJAG_01994":null,"SJAG_01998":null,"SJAG_02029":null,"SJAG_02062":null,"SJAG_02113":null,"SJAG_02133":null,"SJAG_02150":null,"SJAG_02605":null,"SJAG_02716":null,"SJAG_02941":null,"SJAG_02946":null,"SJAG_02947":null,"SJAG_02955":null,"SJAG_03256":null,"SJAG_03400":null,"SJAG_03591":null,"SJAG_03827":null,"SJAG_03829":null,"SJAG_03899":null,"SJAG_03970":null,"SJAG_04135":null,"SJAG_04295":null,"SJAG_04296":null,"SJAG_04588":null,"SJAG_04637":null,"SJAG_04715":null,"SJAG_04718":null,"SJAG_04725":null,"SJAG_04787":null,"SJAG_04903":null,"SJAG_04957":null,"SJAG_04983":null,"SJAG_04984":null,"SJAG_05342":null,"SJAG_05346":null,"SJAG_06598":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0006810"},{"rel_name":"is_a","termid":"GO:0051179"}],"interesting_parent_ids":["GO:0051179","GO:0006810","GO:0008150"],"is_obsolete":false,"name":"amino 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id: PBO:0004972
data:
  {"annotation_feature_type":"gene","cv_name":"EC numbers","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"2.7.1.6","termid":"PBO:0004972"}


id: GO:0140948
data:
  {"annotated_genes":["SJAG_04574"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[110805],"is_not":false,"summary":null,"term":"GO:0140948"}]},"cv_name":"molecular_function","definition":"Catalysis of the reaction: L-lysyl9-[histone H3] + S-adenosyl-L-methionine = H+ + N6-methyl-L-lysyl9-[histone H3] + S-adenosyl-L-homocysteine. This reaction is the addition of a methyl group to the unmethylated lysine residue at position 9 of histone H3, producing histone H3K9me.","definition_xrefs":["RHEA:60288"],"direct_ancestors":[{"relation_name":"is_a","term_name":"histone H3K9 methyltransferase activity","termid":"GO:0046974"}],"gene_count":1,"genes_by_uniquename":{"SJAG_04574":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0016740"},{"rel_name":"is_a","termid":"GO:0008276"},{"rel_name":"is_a","termid":"GO:0140096"},{"rel_name":"is_a","termid":"GO:0016741"}],"interesting_parent_ids":["GO:0008276","GO:0140096","GO:0003674","GO:0016741","GO:0003824","GO:0016740"],"is_obsolete":false,"name":"histone H3K9 monomethyltransferase activity","references_by_uniquename":{"GO_REF:0000107":null},"secondary_identifiers":["EC:2.1.1.367"],"synonyms":[{"name":"histone H3-K9 methylation","type":"broad"},{"name":"histone H3K9 methylation","type":"broad"},{"name":"histone H3K9 monomethylase activity","type":"exact"},{"name":"histone lysine N-monomethyltransferase activity (H3-K9 specific)","type":"exact"}],"termid":"GO:0140948","terms_by_termid":{"GO:0140948":null}}


id: GO:0051064
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"OBSOLETE. Catalysis of the reaction: dTTP + thioredoxin disulfide + H2O = TTP + thioredoxin. Thioredoxin disulfide is the oxidized form of thioredoxin.","definition_xrefs":["MetaCyc:1.17.4.2-RXN"],"gene_count":0,"genotype_count":0,"name":"obsolete TTP reductase activity (obsolete GO:0051064)","synonyms":[{"name":"TTP reduction","type":"related"}],"termid":"GO:0051064"}


id: internal:consider
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"consider","termid":"internal:consider"}


id: MONDO:0000386
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A well-differentiated neuroendocrine tumor arising from the digestive system. It is characterized by the presence of cells with features similar to those of the normal endocrine cells of the digestive system. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation and hormones. There is mild to moderate nuclear atypia and less than 20 mitoses per 10 HPF. It includes well-differentiated endocrine tumors or carcinoid tumors and well-differentiated endocrine carcinomas.","definition_xrefs":["NCIT:P378"],"direct_ancestors":[{"relation_name":"is_a","term_name":"digestive system neuroendocrine neoplasm","termid":"MONDO:0024503"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0004335"}],"interesting_parent_ids":["MONDO:0004335"],"is_obsolete":false,"name":"digestive system neuroendocrine tumor, grade 1/2","secondary_identifiers":["UMLS:C2930967","DOID:0050626","MEDGEN:443945","NCIT:C95404","ONCOTREE:GINET"],"synonyms":[{"name":"GINET","type":"related"},{"name":"alimentary part of gastrointestinal system neuroendocrine tumor","type":"broad"},{"name":"alimentary part of gastrointestinal system neuroendocrine tumour","type":"broad"},{"name":"digestive system NET","type":"broad"},{"name":"digestive system neuroendocrine tumor","type":"broad"},{"name":"digestive system neuroendocrine tumour","type":"broad"},{"name":"digestive system well differentiated neuroendocrine tumor","type":"broad"},{"name":"digestive system well differentiated neuroendocrine tumour","type":"broad"},{"name":"gastroenteropancreatic NET","type":"broad"},{"name":"gastroenteropancreatic neuroendocrine tumor","type":"broad"},{"name":"gastroenteropancreatic neuroendocrine tumour","type":"broad"},{"name":"gastrointestinal NET","type":"broad"},{"name":"gastrointestinal neuroendocrine tumor","type":"broad"},{"name":"gastrointestinal neuroendocrine tumors","type":"broad"},{"name":"gastrointestinal neuroendocrine tumour","type":"broad"},{"name":"gastrointestinal neuroendocrine tumours","type":"broad"},{"name":"gastrointestinal system neuroendocrine tumor","type":"broad"},{"name":"gastrointestinal system neuroendocrine tumour","type":"broad"},{"name":"malignant gastrointestinal neuroendocrine tumor","type":"narrow"},{"name":"malignant gastrointestinal neuroendocrine tumour","type":"narrow"}],"termid":"MONDO:0000386","xrefs":{"Monarch":{"xref_id":"0000386"}}}


id: MONDO:0800417
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"autism, susceptiblity to","termid":"MONDO:0020836"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"autism, susceptibility to, 4","secondary_identifiers":["MEDGEN:361812","UMLS:C1876176"],"synonyms":[{"name":"AUTS4","type":"exact"}],"termid":"MONDO:0800417","xrefs":{"Monarch":{"xref_id":"0800417"}}}


id: PBO:0072294
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein S24 pseudogene 12","termid":"PBO:0072294"}


id: PBO:0088127
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Vacuolar membrane protein; involved in multiple drug resistance and metal sensitivity; ATP-binding cassette (ABC) family member involved in drug transport; potential Cdc28p substrate; induced under respiratory conditions; VMR1 has a paralog, YBT1, that arose from the whole genome duplication","termid":"PBO:0088127"}


id: GO:0090319
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that increases the rate, frequency, or extent of chylomicron remodeling. Chylomicron remodeling is the acquisition, loss or modification of a protein or lipid within a chylomicron, including the hydrolysis of triglyceride by lipoprotein lipase and the subsequent loss of free fatty acid.","definition_xrefs":["GOC:BHF"],"direct_ancestors":[{"relation_name":"is_a","term_name":"positive regulation of cellular component organization","termid":"GO:0051130"},{"relation_name":"is_a","term_name":"positive regulation of multicellular organismal process","termid":"GO:0051240"},{"relation_name":"is_a","term_name":"regulation of chylomicron remodeling","termid":"GO:0090318"},{"relation_name":"positively_regulates","term_name":"chylomicron remodeling","termid":"GO:0034371"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"positive regulation of chylomicron remodeling","synonyms":[{"name":"positive regulation of chylomicron remodelling","type":"exact"}],"termid":"GO:0090319"}


id: PBO:0053975
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"long intergenic non-protein coding RNA 1287","termid":"PBO:0053975"}


id: MONDO:0014294
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia).","definition_xrefs":["Orphanet:261183"],"direct_ancestors":[{"relation_name":"is_a","term_name":"partial deletion of the long arm of chromosome 15","termid":"MONDO:0016913"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"chromosome 15q11.2 deletion syndrome","secondary_identifiers":["GARD:10525","MEDGEN:467404","OMIM:615656","UMLS:C3180937","DOID:0060393"],"synonyms":[{"name":"15q11.2 BP1-BP2 microdeletion syndrome","type":"exact"},{"name":"15q11.2 microdeletion","type":"related"},{"name":"15q11.2 microdeletion syndrome","type":"exact"},{"name":"Del(15)(q11.2)","type":"exact"},{"name":"chromosome 15q11.2 deletion","type":"related"},{"name":"chromosome 15q11.2 deletion syndrome","type":"exact"},{"name":"chromosome 15q11.2 microdeletion","type":"related"},{"name":"monosomy 15q11.2","type":"exact"}],"termid":"MONDO:0014294","xrefs":{"Monarch":{"xref_id":"0014294"}}}


id: GO:0015638
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Enables the transfer of a microcin from one side of a membrane to the other.","definition_xrefs":["GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"amide transmembrane transporter activity","termid":"GO:0042887"},{"relation_name":"is_a","term_name":"xenobiotic transmembrane transporter activity","termid":"GO:0042910"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0022857"},{"rel_name":"is_a","termid":"GO:0005215"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0003674","GO:0022857","GO:0005215"],"is_obsolete":false,"name":"microcin transmembrane transporter activity","synonyms":[{"name":"microcin uptake permease activity","type":"exact"}],"termid":"GO:0015638"}


id: GO:1904512
data:
  {"annotated_genes":["SJAG_03720","SJAG_03048","SJAG_03438","SJAG_00364"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[102692,89401,116535,106939],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1904514"}]},"cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of initiation of premeiotic DNA replication.","definition_xrefs":["GO_REF:0000058","PMID:25891897","GOC:TermGenie"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of DNA-templated DNA replication initiation","termid":"GO:0030174"},{"relation_name":"is_a","term_name":"regulation of nuclear cell cycle DNA replication","termid":"GO:0033262"},{"relation_name":"is_a","term_name":"regulation of meiotic cell cycle","termid":"GO:0051445"},{"relation_name":"regulates","term_name":"meiotic DNA replication initiation","termid":"GO:1902974"}],"gene_count":4,"genes_by_uniquename":{"SJAG_00364":null,"SJAG_03048":null,"SJAG_03438":null,"SJAG_03720":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"regulates","termid":"GO:0006259"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"regulates","termid":"GO:0006260"},{"rel_name":"regulates","termid":"GO:0007049"}],"interesting_parent_ids":["GO:0008150","GO:0007049","GO:0006259","GO:0006260"],"is_obsolete":false,"name":"regulation of initiation of premeiotic DNA replication","references_by_uniquename":{"GO_REF:0000107":null},"synonyms":[{"name":"regulation of initiation of meiotic DNA synthesis","type":"related"},{"name":"regulation of initiation of premeiotic DNA synthesis","type":"related"},{"name":"regulation of meiotic DNA replication initiation","type":"related"},{"name":"regulation of premeiotic DNA replication initiation","type":"exact"}],"termid":"GO:1904512","terms_by_termid":{"GO:1904514":null}}


id: GO:0032977
data:
  {"annotated_genes":["SJAG_05300","SJAG_03633","SJAG_02065","SJAG_05302","SJAG_01240","SJAG_01178","SJAG_00277","SJAG_01940","SJAG_02361","SJAG_00687","SJAG_01496","SJAG_00569","SJAG_02437"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[74790,78854,78902,88266,88291,93129,95167,103830,110722,111315,112102,112562,114435],"is_not":false,"summary":null,"term":"GO:0032977"}]},"cv_name":"molecular_function","definition":"Binds transmembrane domain-containing proteins and mediates their integration into a membrane.","definition_xrefs":["PMID:30415835","PMID:32459176","PMID:14739936","PMID:29809151"],"direct_ancestors":[{"relation_name":"is_a","term_name":"protein carrier chaperone","termid":"GO:0140597"}],"gene_count":13,"genes_by_uniquename":{"SJAG_00277":null,"SJAG_00569":null,"SJAG_00687":null,"SJAG_01178":null,"SJAG_01240":null,"SJAG_01496":null,"SJAG_01940":null,"SJAG_02065":null,"SJAG_02361":null,"SJAG_02437":null,"SJAG_03633":null,"SJAG_05300":null,"SJAG_05302":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0140597"},{"rel_name":"is_a","termid":"GO:0140104"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0140104","GO:0140597","GO:0003674"],"is_obsolete":false,"name":"membrane insertase activity","references_by_uniquename":{"GO_REF:0000033":null,"GO_REF:0000107":null},"secondary_identifiers":["Reactome:R-HSA-9902096","Reactome:R-HSA-1268025","Reactome:R-HSA-1307803","Reactome:R-HSA-1299482","Reactome:R-HSA-9906955"],"termid":"GO:0032977","terms_by_termid":{"GO:0032977":null}}


id: PBO:0051521
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"interleukin 1 receptor type 2","termid":"PBO:0051521"}


id: MONDO:0002103
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A category of psychiatric disorders which are characterized by physical or psychological symptoms that are intentionally produced in order to assume the sick role; there is no external incentive for the behavior, such as economic gain or avoiding legal responsibility, and the person is unaware of any self-motivating factors.","definition_xrefs":["NCIT:C92198"],"direct_ancestors":[{"relation_name":"is_a","term_name":"psychiatric disorder","termid":"MONDO:0002025"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"factitious disorder","secondary_identifiers":["DOID:1766","UMLS:C0015480","ICD9:300.16","ICD9:300.19","SCTID:50705009","MESH:D009110","MEDGEN:4632"],"synonyms":[{"name":"Munchausen syndrome","type":"exact"}],"termid":"MONDO:0002103","xrefs":{"Monarch":{"xref_id":"0002103"}}}


id: FYPO:0002621
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A molecular function phenotype in which the observed rate of malate dehydrogenase (decarboxylating) (NAD+) activity is abnormal.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal oxidoreductase activity","termid":"FYPO:0000689"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000661"},{"rel_name":"is_a","termid":"FYPO:0000652"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0000707"},{"rel_name":"is_a","termid":"FYPO:0000654"}],"interesting_parent_ids":["FYPO:0000661","FYPO:0000652","FYPO:0000654","FYPO:0000707","FYPO:0001985"],"is_obsolete":false,"name":"abnormal malate dehydrogenase (decarboxylating) (NAD+) activity","synonyms":[{"name":"abnormal 'malic' enzyme activity","type":"related"},{"name":"abnormal (S)-malate:NAD+ oxidoreductase (oxaloacetate-decarboxylating) activity","type":"exact"},{"name":"abnormal NAD-linked malic enzyme activity","type":"related"},{"name":"abnormal NAD-malic enzyme activity","type":"broad"},{"name":"abnormal NAD-specific malic enzyme activity","type":"related"},{"name":"abnormal malate dehydrogenase (oxaloacetate-decarboxylating) activity","type":"exact"}],"termid":"FYPO:0002621"}


id: PBO:0041003
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"BLOC-1 related complex subunit 5","termid":"PBO:0041003"}


id: PBO:0068453
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U1 small nuclear 29, pseudogene","termid":"PBO:0068453"}


id: PBO:0074406
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"small integral membrane protein 11","termid":"PBO:0074406"}


id: PBO:0076661
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"T-box transcription factor 23, pseudogene","termid":"PBO:0076661"}


id: GO:0004211
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"OBSOLETE. (Was not defined before being made obsolete).","definition_xrefs":["GOC:mah"],"gene_count":0,"genotype_count":0,"name":"obsolete caspase-9 activity (obsolete GO:0004211)","synonyms":[{"name":"caspase-9 activity","type":"exact"}],"termid":"GO:0004211"}


id: MONDO:0012128
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the MED13L gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"dextro-looped transposition of the great arteries","termid":"MONDO:0019443"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005267"}],"interesting_parent_ids":["MONDO:0005267"],"is_obsolete":false,"name":"transposition of the great arteries, dextro-looped","secondary_identifiers":["MEDGEN:332422","UMLS:C1837341","MESH:C563853","DOID:0060771","OMIM:608808"],"synonyms":[{"name":"D-TGA","type":"related"},{"name":"DTGA","type":"exact"},{"name":"DTGA1","type":"exact"},{"name":"MED13L dextro-looped transposition of the great arteries","type":"exact"},{"name":"dextro-looped transposition of the great arteries 1","type":"exact"},{"name":"dextro-looped transposition of the great arteries caused by mutation in MED13L","type":"exact"},{"name":"dextro-looped transposition of the great arteries type 1","type":"exact"},{"name":"transposition of the great arteries, dextro-looped 1","type":"related"},{"name":"transposition of the great arteries, dextro-looped type 1","type":"exact"}],"termid":"MONDO:0012128","xrefs":{"Monarch":{"xref_id":"0012128"}}}


id: MONDO:0006035
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules.","definition_xrefs":["NCIT:C5473"],"direct_ancestors":[{"relation_name":"is_a","term_name":"gastric adenocarcinoma","termid":"MONDO:0005036"},{"relation_name":"is_a","term_name":"tubular adenocarcinoma","termid":"MONDO:0005606"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0004335"},{"rel_name":"is_a","termid":"MONDO:0004992"}],"interesting_parent_ids":["MONDO:0004335","MONDO:0004992"],"is_obsolete":false,"name":"gastric tubular adenocarcinoma","secondary_identifiers":["ONCOTREE:TSTAD","UMLS:C1333791","MEDGEN:234303","EFO:1000030","DOID:6595"],"synonyms":[{"name":"gastric tubular adenocarcinoma","type":"exact"},{"name":"stomach tubular adenocarcinoma","type":"exact"},{"name":"tubular adenocarcinoma of stomach","type":"exact"},{"name":"tubular adenocarcinoma of the stomach","type":"exact"},{"name":"tubular stomach adenocarcinoma","type":"related"}],"termid":"MONDO:0006035","xrefs":{"Monarch":{"xref_id":"0006035"}}}


id: GO:0045227
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the formation of polysaccharides that make up the capsule, a protective structure surrounding some species of bacteria and fungi.","definition_xrefs":["GOC:go_curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"polysaccharide biosynthetic process","termid":"GO:0000271"},{"relation_name":"is_a","term_name":"capsule organization","termid":"GO:0045230"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005975"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0005975","GO:0008150"],"is_obsolete":false,"name":"capsule polysaccharide biosynthetic process","synonyms":[{"name":"capsular polysaccharide biosynthesis","type":"exact"},{"name":"capsular polysaccharide biosynthetic process","type":"exact"},{"name":"capsule polysaccharide anabolism","type":"exact"},{"name":"capsule polysaccharide biosynthesis","type":"exact"},{"name":"capsule polysaccharide formation","type":"exact"},{"name":"capsule polysaccharide synthesis","type":"exact"}],"termid":"GO:0045227"}


id: PBO:0076925
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"TFDP1 pseudogene 1","termid":"PBO:0076925"}


id: PBO:0073999
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"SLC25A5 antisense RNA 1","termid":"PBO:0073999"}


id: GO:0070994
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The series of events in which a stimulus indicating oxidative stress is received and converted into a molecular signal.","definition_xrefs":["GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"response to oxidative stress","termid":"GO:0006979"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"detection of oxidative stress","termid":"GO:0070994"}


id: PBO:0059845
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 pseudogene 1","termid":"PBO:0059845"}


id: PBO:0030616
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-sensitive_to_cilofungin","termid":"PBO:0030616"}


id: MONDO:0031047
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"Stickler syndrome","termid":"MONDO:0019354"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005559"},{"rel_name":"is_a","termid":"MONDO:0005328"},{"rel_name":"is_a","termid":"MONDO:0005497"}],"interesting_parent_ids":["MONDO:0005328","MONDO:0005497","MONDO:0005559"],"is_obsolete":false,"name":"Stickler syndrome, type 6","secondary_identifiers":["OMIM:620022","MEDGEN:1823980","UMLS:C5774207"],"synonyms":[{"name":"STL6","type":"exact"},{"name":"Stickler syndrome, type VI","type":"exact"}],"termid":"MONDO:0031047","xrefs":{"Monarch":{"xref_id":"0031047"}}}


id: GO:2000467
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that activates or increases the frequency, rate or extent of glycogen (starch) synthase activity.","definition_xrefs":["GOC:obol"],"direct_ancestors":[{"relation_name":"is_a","term_name":"positive regulation of transferase activity","termid":"GO:0051347"},{"relation_name":"is_a","term_name":"regulation of glycogen (starch) synthase activity","termid":"GO:2000465"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"positive regulation of glycogen (starch) synthase activity","synonyms":[{"name":"positive regulation of UDP-glucose-glycogen glucosyltransferase activity","type":"exact"},{"name":"positive regulation of UDP-glucose:glycogen 4-alpha-D-glucosyltransferase activity","type":"exact"},{"name":"positive regulation of UDP-glycogen synthase activity","type":"exact"},{"name":"positive regulation of UDPG-glycogen synthetase activity","type":"exact"},{"name":"positive regulation of UDPG-glycogen transglucosylase activity","type":"exact"},{"name":"positive regulation of UDPglucose:glycogen 4-alpha-D-glucosyltransferase activity","type":"exact"},{"name":"positive regulation of glycogen (starch) synthetase activity","type":"exact"},{"name":"positive regulation of uridine diphosphoglucose-glycogen glucosyltransferase activity","type":"exact"}],"termid":"GO:2000467"}


id: GO:1990522
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process in which the nematode tail spike is generated and organized. An example of this process is seen in C. elegans, where the tapered tail spike is formed during embryogenesis by a filamentous process that passes posteriorly through hyp10, the tail ventral hypodermis; the filamentous process is formed by a binucleate cell, the tail-spike cell, that subsequently undergoes programmed cell death.","definition_xrefs":["PMID:17329362","PMID:6684600","GOC:kmv"],"direct_ancestors":[{"relation_name":"is_a","term_name":"anatomical structure morphogenesis","termid":"GO:0009653"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"tail spike morphogenesis","secondary_identifiers":["WBbt:0006979","WBbt:0008072"],"termid":"GO:1990522"}


id: PBO:0017919
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Schizosaccharomyces specific protein, double strand break localizing Dbl7","termid":"PBO:0017919"}


id: PBO:0077692
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"TNFAIP3 interacting protein 3","termid":"PBO:0077692"}


id: FYPO:0004583
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cellular process phenotype in which meiotic chromosome condensation is abnormal.","definition_xrefs":["PMID:23263988","PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal chromosome condensation","termid":"FYPO:0000159"},{"relation_name":"is_a","term_name":"abnormal meiotic chromosome organization","termid":"FYPO:0006759"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0000641"},{"rel_name":"is_a","termid":"FYPO:0000631"},{"rel_name":"is_a","termid":"FYPO:0000002"}],"interesting_parent_ids":["FYPO:0000002","FYPO:0000641","FYPO:0005447","FYPO:0001985","FYPO:0000631"],"is_obsolete":false,"name":"abnormal meiotic chromosome condensation","synonyms":[{"name":"abnormal chromosome condensation during meiosis I","type":"exact"},{"name":"abnormal chromosome condensation during meiotic cell cycle","type":"related"}],"termid":"FYPO:0004583"}


id: PATO:0000958
data:
  {"annotation_feature_type":"gene","cv_name":"quality","gene_count":0,"genotype_count":0,"name":"OBSOLETE PATO:0000958 opacity value (obsolete PATO:0000958)","termid":"PATO:0000958"}


id: PBO:0080571
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"WDFY family member 4","termid":"PBO:0080571"}


id: PBO:0054319
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"long intergenic non-protein coding RNA 1711","termid":"PBO:0054319"}


id: FYPO:0002844
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"OBSOLETE. A cell population phenotype in which a cell undergoes one or a few rounds of cell division before cells die, resulting in the formation a colony that contains only a few inviable cells which are septated, elongated, and have a larger than normal cell volume. Up to 6 rounds of cell division (generating 64 cells) may be observed, but 3 divisions or fewer is more typical.","definition_xrefs":["PomBase:vw","PomBase:mah"],"gene_count":0,"genotype_count":0,"name":"obsolete inviable microcolony, swollen elongated septated cells (obsolete FYPO:0002844)","synonyms":[{"name":"inviable microcolony, enlarged long septated vegetative cells","type":"related"},{"name":"inviable microcolony, large elongated septated vegetative cells","type":"related"},{"name":"inviable microcolony, swollen elongated septated vegetative cells","type":"exact"}],"termid":"FYPO:0002844"}


id: GO:0048928
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process in which a relatively unspecialized cell acquires specialized features of a neuron of the posterior lateral line ganglion.","definition_xrefs":["PMID:15018940"],"direct_ancestors":[{"relation_name":"is_a","term_name":"lateral line ganglion neuron differentiation","termid":"GO:0048891"},{"relation_name":"part_of","term_name":"posterior lateral line ganglion development","termid":"GO:0048917"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"posterior lateral line ganglion neuron differentiation","termid":"GO:0048928"}


id: GO:0009082
data:
  {"annotated_genes":["SJAG_00107","SJAG_04098","SJAG_06635","SJAG_04149","SJAG_03562","SJAG_02841","SJAG_00396","SJAG_00830","SJAG_03243","SJAG_03985"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[111408,103611,104095,110746,113561,108632,91023],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1901705"},{"annotations":[103612,75183,59355,113562,77298,80296,91024],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0009098"},{"annotations":[58688,76456,80297,64048,77348],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0009099"}]},"cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the formation of amino acids containing a branched carbon skeleton, comprising isoleucine, leucine and valine.","definition_xrefs":["GOC:ai"],"direct_ancestors":[{"relation_name":"is_a","term_name":"branched-chain amino acid metabolic process","termid":"GO:0009081"},{"relation_name":"is_a","term_name":"carboxylic acid biosynthetic process","termid":"GO:0046394"}],"gene_count":10,"genes_by_uniquename":{"SJAG_00107":null,"SJAG_00396":null,"SJAG_00830":null,"SJAG_02841":null,"SJAG_03243":null,"SJAG_03562":null,"SJAG_03985":null,"SJAG_04098":null,"SJAG_04149":null,"SJAG_06635":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0006520"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0044281"}],"interesting_parent_ids":["GO:0044281","GO:0006520","GO:0008150"],"is_obsolete":false,"name":"branched-chain amino acid biosynthetic process","references_by_uniquename":{"GO_REF:0000033":null,"GO_REF:0000041":null,"GO_REF:0000107":null},"synonyms":[{"name":"branched chain family amino acid anabolism","type":"exact"},{"name":"branched chain family amino acid biosynthesis","type":"exact"},{"name":"branched chain family amino acid biosynthetic process","type":"exact"},{"name":"branched chain family amino acid formation","type":"exact"},{"name":"branched chain family amino acid synthesis","type":"exact"}],"termid":"GO:0009082","terms_by_termid":{"GO:0009098":null,"GO:0009099":null,"GO:1901705":null}}


id: GO:0120220
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"The region in the apical portion of multiciliated epithelial cells where the ciliary basal bodies cluster.","definition_xrefs":["GOC:krc","PMID:20685736","PMID:20164345","PMID:29891944"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cellular anatomical structure","termid":"GO:0110165"},{"relation_name":"part_of","term_name":"apical part of cell","termid":"GO:0045177"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005575"}],"interesting_parent_ids":["GO:0005575"],"is_obsolete":false,"name":"basal body patch","synonyms":[{"name":"centriolar patch","type":"exact"}],"termid":"GO:0120220"}


id: PBO:0070864
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein L14 pseudogene 2","termid":"PBO:0070864"}


id: MONDO:0010776
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"hereditary disease","termid":"MONDO:0003847"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial","secondary_identifiers":["OMIM:500005","MESH:C564024","UMLS:C1839021","MEDGEN:333234"],"synonyms":[{"name":"hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial","type":"exact"}],"termid":"MONDO:0010776","xrefs":{"Monarch":{"xref_id":"0010776"}}}


id: MOD:00048
data:
  {"annotation_feature_type":"gene","cv_name":"PSI-MOD","definition":"A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.","definition_xrefs":["Unimod:21#Y","PubMed:1725475","RESID:AA0039","DeltaMass:0","PubMed:10226369","OMSSA:8"],"direct_ancestors":[{"relation_name":"is_a","term_name":"residues isobaric at 243.02-243.03 Da","termid":"MOD:00774"},{"relation_name":"is_a","term_name":"modified L-tyrosine residue","termid":"MOD:00919"},{"relation_name":"is_a","term_name":"O-phosphorylated residue","termid":"MOD:01455"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MOD:00696"}],"interesting_parent_ids":["MOD:00696"],"is_obsolete":false,"name":"O4'-phospho-L-tyrosine","synonyms":[{"name":"(2S)-2-amino-3-(4-phosphonooxyphenyl)propanoic acid","type":"exact"},{"name":"2-amino-3-(4-hydroxyphenyl)propanoic acid 4'-phosphate","type":"exact"},{"name":"2-azanyl-3-(4-phosphonooxyphenyl)propanoic acid","type":"exact"},{"name":"MOD_RES Phosphotyrosine","type":"exact"},{"name":"O4'-phospho-L-tyrosine","type":"exact"},{"name":"O4'-phosphorylated L-tyrosine","type":"exact"},{"name":"O4-phosphotyrosine","type":"exact"},{"name":"OPTyr","type":"exact"},{"name":"Phospho","type":"related"},{"name":"Phospho Tyrosinyl","type":"exact"},{"name":"Phosphorylation","type":"related"},{"name":"phosphorylationy","type":"exact"},{"name":"tyrosine phosphate","type":"exact"}],"termid":"MOD:00048"}


id: PBO:0030237
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-normal_immediate_intracellular_calcium_spike_following_extracellular_calcium_stimulus","termid":"PBO:0030237"}


id: GO:0032130
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The assembly of a sterol-rich region of the plasma membrane at the cell surface overlying the contractile ring.","definition_xrefs":["PMID:15517003"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cellular component assembly","termid":"GO:0022607"},{"relation_name":"is_a","term_name":"mitotic cytokinetic process","termid":"GO:1902410"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"part_of","termid":"GO:0000281"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"part_of","termid":"GO:0044085"},{"rel_name":"part_of","termid":"GO:0007049"}],"interesting_parent_ids":["GO:0008150","GO:0000281","GO:0007049","GO:0044085"],"is_obsolete":false,"name":"medial membrane band assembly","synonyms":[{"name":"medial membrane band formation","type":"related"}],"termid":"GO:0032130"}


id: PBO:0045924
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"EF-hand and coiled-coil domain containing 1","termid":"PBO:0045924"}


id: PBO:0054347
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"long intergenic non-protein coding RNA 1740","termid":"PBO:0054347"}


id: MONDO:0012898
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"narcolepsy, susceptibility to","termid":"MONDO:0100049"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"narcolepsy 4, susceptibility to","secondary_identifiers":["MEDGEN:391001","OMIM:612417","UMLS:C2676275"],"synonyms":[{"name":"NRCLP4","type":"exact"},{"name":"narcolepsy 4","type":"related"},{"name":"narcolepsy 4, susceptibility to","type":"exact"}],"termid":"MONDO:0012898","xrefs":{"Monarch":{"xref_id":"0012898"}}}


id: GO:0098583
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"A vocalization behavior that is the result of learning.","definition_xrefs":["GOC:dos","GOC:BHF","PMID:17035521","GOC:rl","PMID:16418265"],"direct_ancestors":[{"relation_name":"is_a","term_name":"vocalization behavior","termid":"GO:0071625"},{"relation_name":"is_a","term_name":"learned vocalization behavior or vocal learning","termid":"GO:0098598"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"learned vocalization behavior","termid":"GO:0098583"}


id: PR:Q9Y7Y7
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- gas4 gene.","definition_xrefs":["UniProtKB:Q9Y7Y7","PRO:DNx"],"direct_ancestors":[{"relation_name":"is_a","term_name":"Schizosaccharomyces pombe 972h- protein","termid":"PR:000029043"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"1,3-beta-glucanosyltransferase gas4 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPBC342.03","synonyms":[{"name":"Spom972h-gas4","type":"exact"}],"termid":"PR:Q9Y7Y7"}


id: GO:0001724
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"OBSOLETE. Proteins that associate with the ends of intermediate filaments and couple the intermediate filaments to the plasma membrane.","definition_xrefs":["GOC:ajp","PMID:9484600"],"gene_count":0,"genotype_count":0,"name":"obsolete type III intermediate filament associated protein (obsolete GO:0001724)","synonyms":[{"name":"type III intermediate filament associated protein","type":"exact"}],"termid":"GO:0001724"}


id: GO:0045837
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents, or reduces the frequency, rate or extent of establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane.","definition_xrefs":["GOC:go_curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of membrane potential","termid":"GO:0042391"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"negative regulation of membrane potential","synonyms":[{"name":"down regulation of membrane potential","type":"exact"},{"name":"down-regulation of membrane potential","type":"exact"},{"name":"downregulation of membrane potential","type":"exact"},{"name":"inhibition of membrane potential","type":"narrow"},{"name":"reduction of membrane potential","type":"exact"}],"termid":"GO:0045837"}


id: MONDO:1012274
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"thrombopathia, non-human animal","termid":"MONDO:1011695"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"thrombopathia, pig","secondary_identifiers":["OMIA:001003-9823"],"termid":"MONDO:1012274","xrefs":{"Monarch":{"xref_id":"1012274"}}}


id: GO:1903764
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of potassium ion export across the plasma membrane.","definition_xrefs":["PMID:19646991","GOC:rl","GOC:mtg_cardiac_conduct_nov11","GO_REF:0000058","GOC:BHF","GOC:TermGenie"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of potassium ion transmembrane transport","termid":"GO:1901379"},{"relation_name":"regulates","term_name":"potassium ion export across plasma membrane","termid":"GO:0097623"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"regulates","termid":"GO:0055085"},{"rel_name":"regulates","termid":"GO:0006810"}],"interesting_parent_ids":["GO:0006810","GO:0055085","GO:0008150"],"is_obsolete":false,"name":"regulation of potassium ion export across plasma membrane","secondary_identifiers":["GO:1902302"],"synonyms":[{"name":"regulation of potassium export","type":"broad"},{"name":"regulation of potassium export across plasma membrane","type":"broad"},{"name":"regulation of potassium ion export","type":"broad"}],"termid":"GO:1903764"}


id: GO:0031603
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"The core complex of a proteasome located in the cytosol of a cell.","definition_xrefs":["GOC:mtg_sensu","GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"proteasome core complex","termid":"GO:0005839"},{"relation_name":"part_of","term_name":"cytosolic proteasome complex","termid":"GO:0031597"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0032991"},{"rel_name":"part_of","termid":"GO:0005829"},{"rel_name":"part_of","termid":"GO:0005737"},{"rel_name":"part_of","termid":"GO:0032991"},{"rel_name":"is_a","termid":"GO:0005575"}],"interesting_parent_ids":["GO:0005737","GO:0032991","GO:0005829","GO:0005575"],"is_obsolete":false,"name":"cytosolic proteasome core complex","termid":"GO:0031603"}


id: MONDO:0003973
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in tubular patterns and few lymphocytes.","definition_xrefs":["NCIT:P378"],"direct_ancestors":[{"relation_name":"is_a","term_name":"testicular seminoma","termid":"MONDO:0003669"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0004992"}],"interesting_parent_ids":["MONDO:0004992"],"is_obsolete":false,"name":"tubular variant testicular seminoma","secondary_identifiers":["UMLS:C1515294","NCIT:C40959","DOID:6706","MEDGEN:308259"],"synonyms":[{"name":"testicular seminoma, tubular variant","type":"exact"}],"termid":"MONDO:0003973","xrefs":{"Monarch":{"xref_id":"0003973"}}}


id: GO:0050975
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The series of events required for an organism to receive a touch stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. The perception of touch in animals is mediated by mechanoreceptors in the skin and mucous membranes and is the sense by which contact with objects gives evidence as to certain of their qualities. Different types of touch can be perceived (for example, light, coarse, pressure and tickling) and the stimulus may be external or internal (e.g. the feeling of a full stomach).","definition_xrefs":["GOC:ai"],"direct_ancestors":[{"relation_name":"is_a","term_name":"sensory perception of mechanical stimulus","termid":"GO:0050954"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"sensory perception of touch","secondary_identifiers":["Wikipedia:Touch"],"synonyms":[{"name":"perception of touch","type":"exact"},{"name":"tactile sense","type":"exact"},{"name":"taction","type":"exact"},{"name":"tactition","type":"exact"}],"termid":"GO:0050975"}


id: PBO:0035902
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-increased_H4-K20_dimethylation_at_double-strand_break_site_during_vegetative_growth","termid":"PBO:0035902"}


id: PBO:0083400
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Dubious open reading frame; unlikely to encode a functional protein, based on available experimental and comparative sequence data; partially overlaps ORF VMS1/YDR049W","termid":"PBO:0083400"}


id: GO:0031433
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Binding to telethonin, a protein found in the Z disc of striated muscle and which is a substrate of the titin kinase.","definition_xrefs":["GOC:mah","PMID:10481174"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cytoskeletal protein binding","termid":"GO:0008092"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008092"},{"rel_name":"is_a","termid":"GO:0005515"},{"rel_name":"is_a","termid":"GO:0005488"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0005488","GO:0008092","GO:0003674","GO:0005515"],"is_obsolete":false,"name":"telethonin binding","termid":"GO:0031433"}


id: GO:2001236
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of extrinsic apoptotic signaling pathway.","definition_xrefs":["GOC:mtg_apoptosis"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of apoptotic signaling pathway","termid":"GO:2001233"},{"relation_name":"regulates","term_name":"extrinsic apoptotic signaling pathway","termid":"GO:0097191"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"regulates","termid":"GO:0023052"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150","GO:0023052"],"is_obsolete":false,"name":"regulation of extrinsic apoptotic signaling pathway","synonyms":[{"name":"regulation of extrinsic apoptosis","type":"narrow"},{"name":"regulation of extrinsic apoptotic signalling pathway","type":"exact"}],"termid":"GO:2001236"}


id: PBO:0083377
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Dubious open reading frame; unlikely to encode a functional protein, based on available experimental and comparative sequence data; partially overlaps 5' end of the verified essential gene SUI3/YPL237W","termid":"PBO:0083377"}


id: MONDO:0020076
data:
  {"annotated_genes":["SJAG_01748","SJAG_03905","SJAG_01013","SJAG_03453","SJAG_05979","SJAG_01349"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[87714,87559,87561,87558,87560,87713],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0018874"}]},"cv_name":"mondo","definition":"A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008)","definition_xrefs":["NCIT:C4345"],"direct_ancestors":[{"relation_name":"is_a","term_name":"myeloid neoplasm","termid":"MONDO:0005170"},{"relation_name":"is_a","term_name":"myeloid hemopathy","termid":"MONDO:0015756"},{"relation_name":"is_a","term_name":"bone marrow cancer","termid":"MONDO:0021138"}],"gene_count":6,"genes_by_uniquename":{"SJAG_01013":null,"SJAG_01349":null,"SJAG_01748":null,"SJAG_03453":null,"SJAG_03905":null,"SJAG_05979":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005570"},{"rel_name":"is_a","termid":"MONDO:0005046"},{"rel_name":"is_a","termid":"MONDO:0004992"}],"interesting_parent_ids":["MONDO:0005046","MONDO:0004992","MONDO:0005570"],"is_obsolete":false,"name":"myeloproliferative neoplasm","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["ICD9:238.79","ICDO:9960/3","ICDO:9975/1","DOID:2226","MedDRA:10028576","UMLS:C1292778","MEDGEN:220955","SCTID:425333006","ONCOTREE:MPN","Orphanet:98274","EFO:0002428","GARD:9319"],"synonyms":[{"name":"CMPD","type":"exact"},{"name":"CMPD, U","type":"related"},{"name":"MPD","type":"exact"},{"name":"MPN","type":"exact"},{"name":"chronic myeloproliferative disease","type":"exact"},{"name":"chronic myeloproliferative disorder","type":"exact"},{"name":"chronic myeloproliferative disorders","type":"related"},{"name":"chronic myeloproliferative neoplasm","type":"exact"},{"name":"myeloproliferative disorder","type":"exact"},{"name":"myeloproliferative neoplasm","type":"exact"},{"name":"myeloproliferative neoplasm, chronic","type":"exact"},{"name":"myeloproliferative neoplasms","type":"related"},{"name":"myeloproliferative tumor","type":"exact"},{"name":"myeloproliferative tumour","type":"exact"}],"termid":"MONDO:0020076","terms_by_termid":{"MONDO:0018874":null},"xrefs":{"Monarch":{"xref_id":"0020076"}}}


id: GO:1904305
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents or reduces the frequency, rate or extent of gastro-intestinal system smooth muscle contraction.","definition_xrefs":["GO_REF:0000058","PMID:10821044","GOC:TermGenie"],"direct_ancestors":[{"relation_name":"is_a","term_name":"negative regulation of smooth muscle contraction","termid":"GO:0045986"},{"relation_name":"is_a","term_name":"regulation of gastro-intestinal system smooth muscle contraction","termid":"GO:1904304"},{"relation_name":"negatively_regulates","term_name":"gastro-intestinal system smooth muscle contraction","termid":"GO:0014831"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"negative regulation of gastro-intestinal system smooth muscle contraction","synonyms":[{"name":"down regulation of gastro-intestinal system smooth muscle contraction","type":"exact"},{"name":"down-regulation of gastro-intestinal system smooth muscle contraction","type":"exact"},{"name":"downregulation of gastro-intestinal system smooth muscle contraction","type":"exact"},{"name":"inhibition of gastro-intestinal system smooth muscle contraction","type":"narrow"}],"termid":"GO:1904305"}


id: MONDO:0013938
data:
  {"annotated_genes":["SJAG_05950"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[87580],"is_not":false,"summary":null,"term":"MONDO:0013938"}]},"cv_name":"mondo","direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"peroxisome biogenesis disorder","termid":"MONDO:0019234"},{"relation_name":"is_a","term_name":"peroxisome biogenesis disorder due to PEX26 defect","termid":"MONDO:0100271"}],"gene_count":1,"genes_by_uniquename":{"SJAG_05950":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005244"},{"rel_name":"is_a","termid":"MONDO:0005066"},{"rel_name":"is_a","termid":"MONDO:0005559"},{"rel_name":"is_a","termid":"MONDO:0006025"},{"rel_name":"is_a","termid":"MONDO:0019053"}],"interesting_parent_ids":["MONDO:0005244","MONDO:0006025","MONDO:0005559","MONDO:0019053","MONDO:0005066"],"is_obsolete":false,"name":"peroxisome biogenesis disorder 7A (Zellweger)","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["OMIM:614872","MEDGEN:854881","GARD:15866","UMLS:C3888385","DOID:0080482"],"synonyms":[{"name":"PBD7A","type":"related"},{"name":"peroxisome biogenesis disorder 7A (Zellweger)","type":"exact"},{"name":"peroxisome biogenesis disorder, complementation group 8","type":"related"},{"name":"peroxisome biogenesis disorder, complementation group A","type":"related"}],"termid":"MONDO:0013938","terms_by_termid":{"MONDO:0013938":null},"xrefs":{"Monarch":{"xref_id":"0013938"}}}


id: PBO:0066730
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RN7SK pseudogene 27","termid":"PBO:0066730"}


id: PBO:0113166
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Inositol hexakisphosphate (IP6) and inositol heptakisphosphate (IP7) kinase; generation of high energy inositol pyrophosphates by Kcs1p is required for many processes such as vacuolar biogenesis, stress response, RNA polymerase I-mediated rRNA transcription and telomere maintenance; phosphorylated by the AMPK Snf1p, leading to reduced levels of pyrophosphorylated IP7, increased filamentous and invasive growth and increased cell elongation","termid":"PBO:0113166"}


id: FYPO:0005853
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A physical cellular phenotype observed in the vegetative growth phase of the life cycle in which filamentous actin (F-actin) is present in the cytoplasm in the form of dense, irregularly shaped aggregates.","definition_xrefs":["PMID:12764130","PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal actin cytoskeleton morphology during vegetative growth","termid":"FYPO:0000350"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"output_of","termid":"FYPO:0001985"},{"rel_name":"output_of","termid":"FYPO:0001320"},{"rel_name":"output_of","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"output_of","termid":"FYPO:0004803"},{"rel_name":"is_a","termid":"FYPO:0001985"}],"interesting_parent_ids":["FYPO:0001320","FYPO:0001985","FYPO:0000002","FYPO:0004803","FYPO:0005447"],"is_obsolete":false,"name":"aggregated filamentous actin in cytoplasm","synonyms":[{"name":"F-actin accumulation in cytoplasm","type":"related"},{"name":"aggregated F- actin in cytoplasm","type":"exact"},{"name":"aggregated cytoplasmic F-actin","type":"exact"},{"name":"aggregated cytoplasmic filamentous actin","type":"exact"},{"name":"aggregated filamentous actin in cytoplasm during mitotic cell cycle","type":"related"},{"name":"aggregated filamentous actin in cytoplasm during vegetative growth","type":"exact"}],"termid":"FYPO:0005853"}


id: GO:2000871
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents or reduces the frequency, rate or extent of progesterone secretion.","definition_xrefs":["GOC:sl"],"direct_ancestors":[{"relation_name":"is_a","term_name":"negative regulation of female gonad development","termid":"GO:2000195"},{"relation_name":"is_a","term_name":"negative regulation of steroid hormone secretion","termid":"GO:2000832"},{"relation_name":"is_a","term_name":"regulation of progesterone secretion","termid":"GO:2000870"},{"relation_name":"negatively_regulates","term_name":"progesterone secretion","termid":"GO:0042701"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"negatively_regulates","termid":"GO:0006810"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"regulates","termid":"GO:0023052"},{"rel_name":"regulates","termid":"GO:0006810"},{"rel_name":"negatively_regulates","termid":"GO:0023052"}],"interesting_parent_ids":["GO:0006810","GO:0023052","GO:0008150"],"is_obsolete":false,"name":"negative regulation of progesterone secretion","termid":"GO:2000871"}


id: PBO:0062300
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"olfactory receptor family 5 subfamily M member 11","termid":"PBO:0062300"}


id: PBO:0062747
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"olfactory receptor family 52 subfamily J member 2 pseudogene","termid":"PBO:0062747"}


id: PBO:0054230
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"long intergenic non-protein coding RNA 1612","termid":"PBO:0054230"}


id: GO:0000214
data:
  {"annotated_genes":["SJAG_00754","SJAG_01260","SJAG_04907","SJAG_03328"],"annotation_feature_type":"gene","cv_annotations":{"cellular_component":[{"annotations":[60692,71684,74250,79339],"is_not":false,"summary":null,"term":"GO:0000214"}]},"cv_name":"cellular_component","definition":"A protein complex that catalyzes the endonucleolytic cleavage of pre-tRNA, producing 5'-hydroxyl and 2',3'-cyclic phosphate termini, and specifically removing the intron.","definition_xrefs":["PMID:22391451"],"direct_ancestors":[{"relation_name":"is_a","term_name":"nuclear protein-containing complex","termid":"GO:0140513"},{"relation_name":"is_a","term_name":"endoribonuclease complex","termid":"GO:1902555"}],"gene_count":4,"genes_by_uniquename":{"SJAG_00754":null,"SJAG_01260":null,"SJAG_03328":null,"SJAG_04907":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005575"},{"rel_name":"part_of","termid":"GO:0005634"},{"rel_name":"is_a","termid":"GO:0032991"}],"interesting_parent_ids":["GO:0005575","GO:0032991","GO:0005634"],"is_obsolete":false,"name":"tRNA-intron endonuclease complex","references_by_uniquename":{"GO_REF:0000002":null,"GO_REF:0000033":null},"synonyms":[{"name":"SEN complex","type":"exact"},{"name":"tRNA splicing endonuclease complex","type":"exact"}],"termid":"GO:0000214","terms_by_termid":{"GO:0000214":null}}


id: PBO:0047672
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"FLG antisense RNA 1","termid":"PBO:0047672"}


id: PBO:0004860
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribokinase (predicted)","termid":"PBO:0004860"}


id: PBO:0053439
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"long intergenic non-protein coding RNA 384","termid":"PBO:0053439"}


id: PBO:0061937
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"olfactory receptor family 1 subfamily M member 4 pseudogene","termid":"PBO:0061937"}


id: PBO:0003614
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"DNAJ/DUF1977 DNAJB12 homolog (predicted)","termid":"PBO:0003614"}


id: PR:O74362
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- esf2 gene.","definition_xrefs":["PRO:DNx","UniProtKB:O74362"],"direct_ancestors":[{"relation_name":"is_a","term_name":"Schizosaccharomyces pombe 972h- protein","termid":"PR:000029043"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"pre-rRNA-processing protein esf2 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPBC28E12.05","synonyms":[{"name":"18S rRNA factor 2 (Schizosaccharomyces pombe 972h-)","type":"exact"},{"name":"Spom972h-esf2","type":"exact"}],"termid":"PR:O74362"}


id: MONDO:0012917
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"specific language impairment","termid":"MONDO:0000724"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"specific language impairment 4","secondary_identifiers":["OMIM:612514","MEDGEN:393910","UMLS:C2675874","MESH:C567288"],"synonyms":[{"name":"SLI4","type":"exact"},{"name":"specific language impairment 4","type":"exact"}],"termid":"MONDO:0012917","xrefs":{"Monarch":{"xref_id":"0012917"}}}


id: PBO:0028550
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-increased_rate_of_microtubule_depolymerization","termid":"PBO:0028550"}


id: MONDO:0859159
data:
  {"annotated_genes":["SJAG_01544"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[86900],"is_not":false,"summary":null,"term":"MONDO:0859159"}]},"cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"hereditary disease","termid":"MONDO:0003847"}],"gene_count":1,"genes_by_uniquename":{"SJAG_01544":null},"genotype_count":0,"is_obsolete":false,"name":"deafness, cataract, impaired intellectual development, and polyneuropathy","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["OMIM:619354","MEDGEN:1781637","UMLS:C5543482"],"termid":"MONDO:0859159","terms_by_termid":{"MONDO:0859159":null},"xrefs":{"Monarch":{"xref_id":"0859159"}}}


id: GO:0099166
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"OBSOLETE. The component of the postsynaptic specialization membrane of a symmetric synapse consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane.","definition_xrefs":["GOC:dos"],"gene_count":0,"genotype_count":0,"name":"obsolete intrinsic component of postsynaptic specialization membrane of symmetric synapse (obsolete GO:0099166)","synonyms":[{"name":"intrinsic to postsynaptic specialization membrane of symmetric synapse","type":"narrow"}],"termid":"GO:0099166"}


id: MONDO:0012669
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling.","definition_xrefs":["Orphanet:137605"],"direct_ancestors":[{"relation_name":"is_a","term_name":"hyperpigmentation of the skin","termid":"MONDO:0019289"},{"relation_name":"is_a","term_name":"developmental defect during embryogenesis","termid":"MONDO:0019755"},{"relation_name":"is_a","term_name":"Noonan syndrome and Noonan-related syndrome","termid":"MONDO:0020297"},{"relation_name":"is_a","term_name":"hereditary skin disorder","termid":"MONDO:0100118"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005093"},{"rel_name":"is_a","termid":"MONDO:0005267"}],"interesting_parent_ids":["MONDO:0005093","MONDO:0005267"],"is_obsolete":false,"name":"Legius syndrome","secondary_identifiers":["MESH:C548032","GARD:10714","icd11.foundation:1025118245","DOID:0070484","ICD9:709.09","MEDGEN:370709","NCIT:C176941","OMIM:611431","UMLS:C1969623","SCTID:703541007"],"synonyms":[{"name":"Legius syndrome","type":"exact"},{"name":"NF1-like syndrome","type":"exact"},{"name":"neurofibromatosis 1-like syndrome","type":"exact"},{"name":"neurofibromatosis type 1 like syndrome","type":"related"},{"name":"neurofibromatosis type 1-like syndrome","type":"related"}],"termid":"MONDO:0012669","xrefs":{"Monarch":{"xref_id":"0012669"}}}


id: PBO:0039163
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"adenylate kinase 6 pseudogene 2","termid":"PBO:0039163"}


id: PBO:0046060
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"eukaryotic translation initiation factor 3 subunit J","termid":"PBO:0046060"}


id: GO:1904409
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of secretory granule organization.","definition_xrefs":["PMID:15039777","GO_REF:0000058","GOC:TermGenie"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of organelle organization","termid":"GO:0033043"},{"relation_name":"regulates","term_name":"secretory granule organization","termid":"GO:0033363"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"regulation of secretory granule organization","synonyms":[{"name":"regulation of secretory granule organisation","type":"exact"},{"name":"regulation of secretory granule organization and biogenesis","type":"related"}],"termid":"GO:1904409"}


id: PBO:0065522
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"pentatricopeptide repeat domain 2 pseudogene 2","termid":"PBO:0065522"}


id: GO:0099075
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Vesicle-mediated transport of cargo from the mitochondrion by a mitochondrion-derived vesicle.","definition_xrefs":["PMID:37131163","GOC:bc","GOC:pad","GOC:PARL-UCL","PMID:20619655"],"direct_ancestors":[{"relation_name":"is_a","term_name":"mitochondrial transport","termid":"GO:0006839"},{"relation_name":"is_a","term_name":"vesicle-mediated transport","termid":"GO:0016192"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0016192"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0006810"},{"rel_name":"is_a","termid":"GO:0051179"}],"interesting_parent_ids":["GO:0051179","GO:0008150","GO:0006810","GO:0016192"],"is_obsolete":false,"name":"mitochondrion-derived vesicle mediated transport","termid":"GO:0099075"}


id: PBO:0076565
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"TBC1 domain family member 3F","termid":"PBO:0076565"}


id: GO:1990631
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Binding to the protein-tyrosine kinase receptor ErbB-4/HER4.","definition_xrefs":["PMID:18523588","GOC:sl"],"direct_ancestors":[{"relation_name":"is_a","term_name":"signaling receptor binding","termid":"GO:0005102"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005488"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0005515"}],"interesting_parent_ids":["GO:0005488","GO:0005515","GO:0003674"],"is_obsolete":false,"name":"ErbB-4 class receptor binding","synonyms":[{"name":"HER4 receptor binding","type":"exact"}],"termid":"GO:1990631"}


id: PBO:0082674
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Component of the eisosome with unknown function; GFP-fusion protein localizes to the cytoplasm; specifically phosphorylated in vitro by mammalian diphosphoinositol pentakisphosphate (IP7)","termid":"PBO:0082674"}


id: PBO:0061263
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"notch receptor 3","termid":"PBO:0061263"}


id: MONDO:1011156
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Marfan syndrome that occurs in cattle.","definition_xrefs":["MONDO:patterns/nonhuman_disease"],"direct_ancestors":[{"relation_name":"is_a","term_name":"Marfan syndrome, non-human animal","termid":"MONDO:1010296"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Marfan syndrome, cattle","secondary_identifiers":["OMIA:000628-9913"],"termid":"MONDO:1011156","xrefs":{"Monarch":{"xref_id":"1011156"}}}


id: MONDO:0016250
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"OBSOLETE. Any of the forms of breast adenocarcinoma that have a rare incidence.","definition_xrefs":["MONDO:patterns/rare"],"gene_count":0,"genotype_count":0,"name":"obsolete rare adenocarcinoma of the breast (obsolete MONDO:0016250)","secondary_identifiers":["ICD10CM:C50.6","ICD10CM:C50.3","ICD10CM:C50.2","Orphanet:213528"],"synonyms":[{"name":"rare breast adenocarcinoma","type":"exact"}],"termid":"MONDO:0016250","xrefs":{"Monarch":{"xref_id":"0016250"}}}


id: GO:0002523
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The movement of a leukocyte within or between different tissues and organs of the body contributing to an inflammatory response.","definition_xrefs":["PMID:14680625","PMID:7507411","ISBN:0781735149","PMID:14708592","PMID:8600538","GOC:add"],"direct_ancestors":[{"relation_name":"is_a","term_name":"leukocyte migration","termid":"GO:0050900"},{"relation_name":"part_of","term_name":"inflammatory response","termid":"GO:0006954"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"leukocyte migration involved in inflammatory response","synonyms":[{"name":"immune cell migration during inflammatory response","type":"related"},{"name":"immune cell trafficking during inflammatory response","type":"related"},{"name":"leucocyte migration during inflammatory response","type":"related"},{"name":"leucocyte trafficking during inflammatory response","type":"related"},{"name":"leukocyte migration during inflammatory response","type":"related"},{"name":"leukocyte trafficking during inflammatory response","type":"related"}],"termid":"GO:0002523"}


id: MONDO:0015812
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Primary cutaneous gamma/delta-positive T-cell lymphoma is a rare, usually aggressive, subtype of cutaneous T-cell lymphoma characterized by infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques, tumors, or subcutaneous nodules on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Cases associated with panniculitis may present with hemophagocytic syndrome (abrupt onset of fever, rash, cytopenia, hepatosplenomegaly and neurological compromise). Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported.","definition_xrefs":["Orphanet:178533"],"direct_ancestors":[{"relation_name":"is_a","term_name":"primary cutaneous T-cell lymphoma","termid":"MONDO:0015758"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0004992"},{"rel_name":"is_a","termid":"MONDO:0005570"},{"rel_name":"is_a","termid":"MONDO:0005093"}],"interesting_parent_ids":["MONDO:0005093","MONDO:0004992","MONDO:0005570"],"is_obsolete":false,"name":"primary cutaneous gamma/delta-positive T-cell lymphoma","secondary_identifiers":["GARD:20158","ICD10CM:C84.4"],"termid":"MONDO:0015812","xrefs":{"Monarch":{"xref_id":"0015812"}}}


id: PBO:0084963
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Myosin-like protein associated with the nuclear envelope; nuclear basket protein that connects the nuclear pore complex with the nuclear interior; involved with Tel1p in telomere length control; involved with Pml1p and Pml39p in nuclear retention of unspliced mRNAs; MLP1 has a paralog, MLP2, that arose from the whole genome duplication","termid":"PBO:0084963"}


id: FYPO:0007654
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cell phenotype observed in the vegetative growth phase of the life cycle in which the maintenance of localization of a protein at a location in heterochromatin at heterochromatin islands occurs to a lower extent than normal.","definition_xrefs":["PomBase:mah","PMID:32269268"],"direct_ancestors":[{"relation_name":"is_a","term_name":"decreased protein localization to heterochromatin during vegetative growth","termid":"FYPO:0002385"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0000138"}],"interesting_parent_ids":["FYPO:0001985","FYPO:0001320","FYPO:0000002","FYPO:0000138","FYPO:0005447"],"is_obsolete":false,"name":"decreased protein localization to chromatin at heterochromatin island at meiotic gene during vegetative growth","synonyms":[{"name":"decreased protein localisation to chromatin at heterochromatin island at meiotic gene during vegetative growth","type":"exact"},{"name":"decreased protein localization to chromatin at heterochromatin island at meiosis gene during vegetative growth","type":"exact"},{"name":"decreased protein localization to chromatin at heterochromatin island at meiotic gene during mitotic cell cycle","type":"related"}],"termid":"FYPO:0007654"}


id: PBO:0049354
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"general transcription factor IIi pseudogene 12","termid":"PBO:0049354"}


id: MONDO:0018323
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life.","definition_xrefs":["Orphanet:391457"],"direct_ancestors":[{"relation_name":"is_a","term_name":"HSD10 mitochondrial disease","termid":"MONDO:0010327"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0004069"},{"rel_name":"is_a","termid":"MONDO:0005066"}],"interesting_parent_ids":["MONDO:0004069","MONDO:0005066"],"is_obsolete":false,"name":"HSD10 disease, neonatal type","secondary_identifiers":["GARD:17623","UMLS:C5680026","MEDGEN:1842355"],"synonyms":[{"name":"2-methyl-3-hydroxybutyric aciduria, neonatal type","type":"exact"},{"name":"2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type","type":"exact"},{"name":"HSD10 deficiency, neonatal type","type":"exact"},{"name":"MHBD deficiency, neonatal type","type":"exact"}],"termid":"MONDO:0018323","xrefs":{"Monarch":{"xref_id":"0018323"}}}


id: GO:0051865
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The ubiquitination by a protein of one or more of its own amino acid residues, or residues on an identical protein. Ubiquitination occurs on the lysine residue by formation of an isopeptide crosslink.","definition_xrefs":["GOC:ai"],"direct_ancestors":[{"relation_name":"is_a","term_name":"protein ubiquitination","termid":"GO:0016567"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0070647"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0070647","GO:0008150"],"is_obsolete":false,"name":"protein autoubiquitination","synonyms":[{"name":"protein auto-ubiquitination","type":"exact"},{"name":"protein auto-ubiquitinylation","type":"exact"},{"name":"protein autoubiquitinylation","type":"exact"},{"name":"protein self-ubiquitination","type":"exact"},{"name":"protein self-ubiquitinylation","type":"exact"}],"termid":"GO:0051865"}


id: PBO:0027266
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-two_cell_divisions_prior_to_cell_cycle_arrest_in_mitotic_G1_phase_in_response_to_pheromone","termid":"PBO:0027266"}


id: MOD:00495
data:
  {"annotation_feature_type":"gene","cv_name":"PSI-MOD","definition":"modification from Unimod Isotopic label","definition_xrefs":["PubMed:12185208","Unimod:124#C"],"direct_ancestors":[{"relation_name":"is_a","term_name":"modified L-cysteine residue","termid":"MOD:00905"},{"relation_name":"is_a","term_name":"isotope tagged reagent derivatized residue","termid":"MOD:01426"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MOD:00905"}],"interesting_parent_ids":["MOD:00905"],"is_obsolete":false,"name":"N-iodoacetyl, p-chlorobenzyl-13C6-glucamine","synonyms":[{"name":"ICAT-H:13C(6)","type":"related"},{"name":"N-iodoacetyl, p-chlorobenzyl-13C6-glucamine","type":"related"}],"termid":"MOD:00495"}


id: PBO:0082587
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Cis-golgi GTPase-activating protein (GAP) for yeast Rabs; the Rab family members are Ypt1p (in vivo) and for Ypt1p, Sec4p, Ypt7p, and Ypt51p (in vitro); involved in vesicle docking and fusion; interacts with autophagosome component Atg8p","termid":"PBO:0082587"}


id: PBO:0030793
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-normal_spore_morphology","termid":"PBO:0030793"}


id: PBO:0085740
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Protein involved in transcription termination by RNA polymerase II; interacts with exonuclease Rat1p and Rai1p; has an RPR domain (carboxy-terminal domain interacting domain); also involved in regulation of Ty1 transposition","termid":"PBO:0085740"}


id: MONDO:0008304
data:
  {"annotated_genes":["SJAG_01082","SJAG_04699"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[86332,86333],"is_not":false,"summary":null,"term":"MONDO:0008304"}]},"cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"hereditary disease","termid":"MONDO:0003847"}],"gene_count":2,"genes_by_uniquename":{"SJAG_01082":null,"SJAG_04699":null},"genotype_count":0,"is_obsolete":false,"name":"premature chromatid separation trait","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["UMLS:C1864389","MEDGEN:400517","OMIM:176430"],"synonyms":[{"name":"PCS","type":"related"},{"name":"premature chromatid separation trait","type":"exact"},{"name":"total premature chromatid separation trait","type":"related"}],"termid":"MONDO:0008304","terms_by_termid":{"MONDO:0008304":null},"xrefs":{"Monarch":{"xref_id":"0008304"}}}


id: MONDO:0030456
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"autosomal recessive limb-girdle muscular dystrophy","termid":"MONDO:0015152"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0006025"},{"rel_name":"is_a","termid":"MONDO:0005336"}],"interesting_parent_ids":["MONDO:0005336","MONDO:0006025"],"is_obsolete":false,"name":"muscular dystrophy, limb-girdle, autosomal recessive 27","secondary_identifiers":["MEDGEN:1794212","UMLS:C5562002","OMIM:619566"],"synonyms":[{"name":"LGMDR27","type":"exact"}],"termid":"MONDO:0030456","xrefs":{"Monarch":{"xref_id":"0030456"}}}


id: GO:0044530
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"Multicomponent complex of RNA and proteins that is composed of four active spliceosomes, termed native spliceosomes, connected to each other by the pre-mRNA. The supraspliceosome is the nuclear machine where the pre-mRNA processing takes place, like the 5'-end capping, 3'-end cleavage, splicing and editing.","definition_xrefs":["GOC:ans","PMID:19282290","GOC:jl"],"direct_ancestors":[{"relation_name":"is_a","term_name":"spliceosomal complex","termid":"GO:0005681"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"part_of","termid":"GO:0005634"},{"rel_name":"is_a","termid":"GO:0005575"},{"rel_name":"is_a","termid":"GO:0032991"}],"interesting_parent_ids":["GO:0005634","GO:0005575","GO:0032991"],"is_obsolete":false,"name":"supraspliceosomal complex","synonyms":[{"name":"supraspliceosome complex","type":"exact"}],"termid":"GO:0044530"}


id: GO:2000795
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents or reduces the frequency, rate or extent of epithelial cell proliferation involved in lung morphogenesis.","definition_xrefs":["PMID:21513708"],"direct_ancestors":[{"relation_name":"is_a","term_name":"negative regulation of epithelial cell proliferation","termid":"GO:0050680"},{"relation_name":"is_a","term_name":"regulation of epithelial cell proliferation involved in lung morphogenesis","termid":"GO:2000794"},{"relation_name":"negatively_regulates","term_name":"epithelial cell proliferation involved in lung morphogenesis","termid":"GO:0060502"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"negative regulation of epithelial cell proliferation involved in lung morphogenesis","termid":"GO:2000795"}


id: GO:0060669
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process in which the embryonic placenta is generated and organized.","definition_xrefs":["GOC:dph"],"direct_ancestors":[{"relation_name":"is_a","term_name":"embryonic morphogenesis","termid":"GO:0048598"},{"relation_name":"part_of","term_name":"embryonic placenta development","termid":"GO:0001892"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"embryonic placenta morphogenesis","termid":"GO:0060669"}


id: PBO:0029608
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-viable_curved_vegetative_cell","termid":"PBO:0029608"}


id: MONDO:0015776
data:
  {"annotated_genes":["SJAG_00702","SJAG_00326"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[86395],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0008972"},{"annotations":[86244],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0014743"}]},"cv_name":"mondo","definition":"Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth.","definition_xrefs":["Orphanet:177"],"direct_ancestors":[{"relation_name":"is_a","term_name":"eye disorder","termid":"MONDO:0005328"},{"relation_name":"is_a","term_name":"disorder of plasmalogens biosynthesis","termid":"MONDO:0017986"},{"relation_name":"is_a","term_name":"chondrodysplasia punctata","termid":"MONDO:0019701"}],"gene_count":2,"genes_by_uniquename":{"SJAG_00326":null,"SJAG_00702":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0002525"},{"rel_name":"is_a","termid":"MONDO:0005328"},{"rel_name":"is_a","termid":"MONDO:0019053"},{"rel_name":"is_a","termid":"MONDO:0005066"}],"interesting_parent_ids":["MONDO:0005066","MONDO:0005328","MONDO:0002525","MONDO:0019053"],"is_obsolete":false,"name":"rhizomelic chondrodysplasia punctata","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["NCIT:C85047","GARD:13160","icd11.foundation:260357080","DOID:2580","MEDGEN:79471","MESH:D018902","OMIMPS:215100","SCTID:56692003","UMLS:C0282529","ICD10CM:E71.540"],"synonyms":[{"name":"RCDP","type":"exact"},{"name":"chondrodysplasia punctata, rhizomelic form","type":"exact"},{"name":"rhizomelic chondrodysplasia punctata","type":"exact"},{"name":"rhizomelic chondrodysplasia punctata syndrome","type":"exact"},{"name":"rhizomelic dwarfism","type":"exact"}],"termid":"MONDO:0015776","terms_by_termid":{"MONDO:0008972":null,"MONDO:0014743":null},"xrefs":{"Monarch":{"xref_id":"0015776"}}}


id: PBO:0057707
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 1294","termid":"PBO:0057707"}


id: GO:0047224
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: 3-O-N-acetyl-D-galactosalaminyl-[protein] + UDP-N-acetyl-D-glucosamine = 3-O-N-acetyl-beta-D-glucosaminyl-1,3-N-acetyl-D-galactosaminyl-[protein] + UDP. Linkage of the glycan to the protein occurs via the oxygen atom in the side chain of an L-serine or L-threonine residue.","definition_xrefs":["EC:2.4.1.147"],"direct_ancestors":[{"relation_name":"is_a","term_name":"acetylglucosaminyltransferase activity","termid":"GO:0008375"},{"relation_name":"is_a","term_name":"catalytic activity, acting on a glycoprotein","termid":"GO:0140103"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0140096"},{"rel_name":"is_a","termid":"GO:0016757"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0016740"}],"interesting_parent_ids":["GO:0016740","GO:0140096","GO:0016757","GO:0003674","GO:0003824"],"is_obsolete":false,"name":"acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity","secondary_identifiers":["MetaCyc:2.4.1.147-RXN"],"synonyms":[{"name":"O-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase III activity","type":"related"},{"name":"UDP-N-acetyl-D-glucosamine:O-glycosyl-glycoprotein (N-acetyl-D-glucosamine to N-acetyl-D-galactosaminyl-R) beta-1,3-N-acetyl-D-glucosaminyltransferase activity","type":"related"},{"name":"core 3-beta-GlcNAc-transferase activity","type":"related"},{"name":"core 3beta-GlcNAc-transferase activity","type":"related"},{"name":"mucin core 3 beta3-GlcNAc-transferase activity","type":"related"},{"name":"uridine diphosphoacetylglucosamine-mucin beta(1->3)-acetylglucosaminyltransferase activity","type":"related"}],"termid":"GO:0047224"}


id: MONDO:0002578
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A morphologic variant of embryonal rhabdomyosarcoma arising from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma.","definition_xrefs":["NCIT:P378"],"direct_ancestors":[{"relation_name":"is_a","term_name":"embryonal rhabdomyosarcoma","termid":"MONDO:0009993"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0004992"}],"interesting_parent_ids":["MONDO:0004992"],"is_obsolete":false,"name":"botryoid rhabdomyosarcoma","secondary_identifiers":["DOID:3255","MEDGEN:727079","ICD9:171.9","NCIT:C9150","SCTID:404052009","UMLS:C1306574"],"synonyms":[{"name":"botryoid sarcoma","type":"exact"},{"name":"botryoid sarcoma (morphologic abnormality)","type":"exact"},{"name":"botryoid-type embryonal rhabdomyosarcoma","type":"exact"},{"name":"sarcoma botryoides","type":"exact"}],"termid":"MONDO:0002578","xrefs":{"Monarch":{"xref_id":"0002578"}}}


id: GO:0061142
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that mediates the transfer of information from a mesothelial cell to an epithelial cell and contributes to the development of the lung.","definition_xrefs":["GOC:dph"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cell-cell signaling involved in lung development","termid":"GO:0060495"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0023052"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150","GO:0023052"],"is_obsolete":false,"name":"mesothelial-mesenchymal cell signaling involved in early lung development","synonyms":[{"name":"mesothelial-mesenchymal cell signalling involved in early lung development","type":"exact"}],"termid":"GO:0061142"}


id: PBO:0048465
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"glutamate-cysteine ligase catalytic subunit","termid":"PBO:0048465"}


id: PR:Q9P7X8
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A DNA-directed RNA polymerase I subunit RPA2 that is encoded in the genome of Schizosaccharomyces pombe 972h-.","definition_xrefs":["PANTHER:PTHR20856:SF5","OMA:SCHPO03090","PRO:DNx"],"direct_ancestors":[{"relation_name":"is_a","term_name":"Schizosaccharomyces pombe 972h- protein","termid":"PR:000029043"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"DNA-directed RNA polymerase I subunit RPA2 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPBP23A10.07","secondary_identifiers":["UniProtKB:Q9P7X8"],"synonyms":[{"name":"DNA-directed RNA polymerase I polypeptide 2 (Schizosaccharomyces pombe 972h-)","type":"exact"},{"name":"RNA polymerase I subunit 2 (Schizosaccharomyces pombe 972h-)","type":"exact"},{"name":"Spom972h-POLR1B","type":"exact"}],"termid":"PR:Q9P7X8"}


id: PBO:0051759
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"importin 5","termid":"PBO:0051759"}


id: MONDO:0007095
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"ectodermal dysplasia syndrome","termid":"MONDO:0019287"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005093"}],"interesting_parent_ids":["MONDO:0005093"],"is_obsolete":false,"name":"ameloonychohypohidrotic syndrome","secondary_identifiers":["GARD:647","MEDGEN:400184","SCTID:715404000","MESH:C538245","Orphanet:1028","UMLS:C1863006","OMIM:104570"],"synonyms":[{"name":"amelo-onycho-hypohidrotic syndrome","type":"related"},{"name":"ameloonychohypohidrotic syndrome","type":"exact"},{"name":"hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis","type":"related"}],"termid":"MONDO:0007095","xrefs":{"Monarch":{"xref_id":"0007095"}}}


id: GO:0070876
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"A protein complex that functions downstream of the MRN complex to promote DNA repair and the G2/M checkpoint. The SOSS complex associates with single-stranded DNA at DNA lesions and is composed of SOSS-B (SOSS-B1/OBFC2B or SOSS-B2/OBFC2A), SOSS-A/INTS3 and SOSS-C/C9orf80.","definition_xrefs":["PMID:19683501"],"direct_ancestors":[{"relation_name":"is_a","term_name":"nuclear protein-containing complex","termid":"GO:0140513"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0032991"},{"rel_name":"part_of","termid":"GO:0005634"},{"rel_name":"is_a","termid":"GO:0005575"}],"interesting_parent_ids":["GO:0032991","GO:0005634","GO:0005575"],"is_obsolete":false,"name":"SOSS complex","termid":"GO:0070876"}


id: MONDO:0010647
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Any azoospermia in which the cause of the disease is a mutation in the TEX11 gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"spermatogenic failure","termid":"MONDO:0004983"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005047"}],"interesting_parent_ids":["MONDO:0005047"],"is_obsolete":false,"name":"spermatogenic failure, X-linked, 2","secondary_identifiers":["UMLS:C1839841","DOID:0070185","MEDGEN:374322","OMIM:309120","GARD:15302"],"synonyms":[{"name":"Male infertility from defect in meiosis","type":"related"},{"name":"SPGFX2","type":"related"},{"name":"TEX11 azoospermia","type":"exact"},{"name":"azoospermia caused by mutation in TEX11","type":"exact"},{"name":"spermatogenic failure, X-linked, 2","type":"exact"},{"name":"spermatogenic failure, X-linked, 2, X-linked recessive","type":"exact"},{"name":"spermatogenic failure, X-linked, type 2","type":"exact"}],"termid":"MONDO:0010647","xrefs":{"Monarch":{"xref_id":"0010647"}}}


id: MONDO:0032829
data:
  {"annotated_genes":["SJAG_01713"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[87299],"is_not":false,"summary":null,"term":"MONDO:0032829"}]},"cv_name":"mondo","definition":"Neurodevelopmental disorder in which the cause of the disease is a variation in the POLR2A gene; it is characterized by early-onset hypotonia, delayed walking, poor speech, and impaired intellectual development. Other features may include feeding difficulties, dysmorphic features, and visual problems. Brain magnetic resonance imaging tends to show delayed myelination, thin corpus callosum, and/or enlarged ventricles.","definition_xrefs":["PMID:35328024","PMID:31353023"],"direct_ancestors":[{"relation_name":"is_a","term_name":"Mendelian neurodevelopmental disorder","termid":"MONDO:0100500"}],"gene_count":1,"genes_by_uniquename":{"SJAG_01713":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0700092"}],"interesting_parent_ids":["MONDO:0700092"],"is_obsolete":false,"name":"neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["OMIM:618603","MEDGEN:1684818","UMLS:C5231423"],"synonyms":[{"name":"NEDHIB","type":"exact"},{"name":"POLR2A-Related Disorders","type":"exact"},{"name":"POLR2A-associated neurodevelopmental disability","type":"exact"},{"name":"POLR2A-related disorder","type":"exact"},{"name":"neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities","type":"exact"}],"termid":"MONDO:0032829","terms_by_termid":{"MONDO:0032829":null},"xrefs":{"Monarch":{"xref_id":"0032829"}}}


id: GO:1903793
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that activates or increases the frequency, rate or extent of anion transport.","definition_xrefs":["GOC:TermGenie","PMID:11336802","GO_REF:0000058"],"direct_ancestors":[{"relation_name":"is_a","term_name":"positive regulation of monoatomic ion transport","termid":"GO:0043270"},{"relation_name":"is_a","term_name":"regulation of monoatomic anion transport","termid":"GO:0044070"},{"relation_name":"positively_regulates","term_name":"monoatomic anion transport","termid":"GO:0006820"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"positively_regulates","termid":"GO:0006810"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"regulates","termid":"GO:0006810"}],"interesting_parent_ids":["GO:0006810","GO:0008150"],"is_obsolete":false,"name":"positive regulation of monoatomic anion transport","synonyms":[{"name":"activation of anion transport","type":"narrow"},{"name":"positive regulation of anion transport","type":"broad"},{"name":"up regulation of anion transport","type":"exact"},{"name":"up-regulation of anion transport","type":"exact"},{"name":"upregulation of anion transport","type":"exact"}],"termid":"GO:1903793"}


id: PBO:0004435
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"translation initiation factor eIF1A","termid":"PBO:0004435"}


id: PBO:0052544
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"kallikrein pseudogene 1","termid":"PBO:0052544"}


id: PBO:0001114
data:
  {"annotation_feature_type":"gene","cv_name":"EC numbers","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"4.2.1.36","termid":"PBO:0001114"}


id: GO:0047240
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: D-galactosyl-(1->4)-beta-D-glucosyl-R + UDP-D-galactose = D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-R + H+ + UDP.","definition_xrefs":["RHEA:18413","EC:2.4.1.179"],"direct_ancestors":[{"relation_name":"is_a","term_name":"UDP-galactosyltransferase activity","termid":"GO:0035250"},{"relation_name":"is_a","term_name":"beta-1,3-galactosyltransferase activity","termid":"GO:0048531"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0016740"},{"rel_name":"is_a","termid":"GO:0016757"}],"interesting_parent_ids":["GO:0016757","GO:0003674","GO:0003824","GO:0016740"],"is_obsolete":false,"name":"lactosylceramide beta-1,3-galactosyltransferase activity","secondary_identifiers":["KEGG_REACTION:R04431","MetaCyc:2.4.1.179-RXN"],"synonyms":[{"name":"UDP-galactose:D-galactosyl-1,4-beta-D-glucosyl-R beta-1,3-galactosyltransferase activity","type":"related"},{"name":"UDPgalactose:D-galactosyl-1,4-beta-D-glucosyl-R beta-1,3-galactosyltransferase activity","type":"related"},{"name":"uridine diphosphogalactose-lactosylceramide beta1->3-galactosyltransferase activity","type":"related"}],"termid":"GO:0047240"}


id: MONDO:0010631
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).","definition_xrefs":["Orphanet:464"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"X-linked syndromic intellectual disability","termid":"MONDO:0020119"},{"relation_name":"excluded_subClassOf","term_name":"obsolete precancerous lesion of palpebral epidermis (obsolete MONDO:0020174)","termid":"MONDO:0020174"},{"relation_name":"is_a","term_name":"ectodermal dysplasia syndrome","termid":"MONDO:0019287"},{"relation_name":"is_a","term_name":"congenital vitreoretinal dysplasia","termid":"MONDO:0020247"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005328"},{"rel_name":"is_a","termid":"MONDO:0002320"},{"rel_name":"is_a","termid":"MONDO:0005093"}],"interesting_parent_ids":["MONDO:0005328","MONDO:0005093","MONDO:0002320"],"is_obsolete":false,"name":"incontinentia pigmenti","secondary_identifiers":["DOID:12305","NCIT:C84787","Wikipedia:Incongenita_pigmenti","GARD:6778","icd11.foundation:1542530268","MESH:D007184","MEDGEN:7049","NANDO:2200974","SCTID:367520004","UMLS:C0021171","OMIM:308300","NORD:1300"],"synonyms":[{"name":"Bloch-Siemens syndrome","type":"exact"},{"name":"Bloch-Sulzberger syndrome","type":"exact"},{"name":"IP","type":"related"},{"name":"IP2 (formerly)","type":"related"},{"name":"Incontinentia pigmenti syndrome","type":"exact"},{"name":"Incontinentia pigmenti type 2 (formerly)","type":"related"},{"name":"Incontinentia pigmenti, familial Male-lethal type","type":"related"},{"name":"Incontinentia pigmenti, type II","type":"related"},{"name":"Incontinentia pigmenti, type II, formerly","type":"related"},{"name":"incontinentia pigmenti","type":"exact"},{"name":"incontinentia pigmenti, X-linked dominant","type":"exact"}],"termid":"MONDO:0010631","xrefs":{"Monarch":{"xref_id":"0010631"}}}


id: PBO:0030375
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-increased_RNA_level_during_cellular_response_to_adenine_starvation","termid":"PBO:0030375"}


id: MONDO:0030480
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"hearing loss, autosomal recessive","termid":"MONDO:0019588"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0019497"},{"rel_name":"is_a","termid":"MONDO:0006025"}],"interesting_parent_ids":["MONDO:0019497","MONDO:0006025"],"is_obsolete":false,"name":"hearing loss, autosomal recessive 119","secondary_identifiers":["MEDGEN:1794233","OMIM:619615","UMLS:C5562023"],"synonyms":[{"name":"DFNB119","type":"exact"},{"name":"deafness, autosomal recessive 119","type":"narrow"}],"termid":"MONDO:0030480","xrefs":{"Monarch":{"xref_id":"0030480"}}}


id: PBO:0030653
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-sensitive_to_methylamine","termid":"PBO:0030653"}


id: PBO:0049037
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"G protein-coupled receptor 26","termid":"PBO:0049037"}


id: PBO:0054527
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"long intergenic non-protein coding RNA 1927","termid":"PBO:0054527"}


id: GO:0106288
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of deadenylation-dependent decapping of nuclear-transcribed mRNA.","definition_xrefs":["PMID:32354837"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of mRNA catabolic process","termid":"GO:0061013"},{"relation_name":"regulates","term_name":"deadenylation-dependent decapping of nuclear-transcribed mRNA","termid":"GO:0000290"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"regulates","termid":"GO:0010467"},{"rel_name":"regulates","termid":"GO:0016071"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0010467","GO:0016071","GO:0008150"],"is_obsolete":false,"name":"regulation of deadenylation-dependent decapping of nuclear-transcribed mRNA","termid":"GO:0106288"}


id: GO:0005243
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"A wide pore channel activity that enables a direct cytoplasmic connection from one cell to an adjacent cell. The gap junction can pass large solutes as well as electrical signals between cells. Gap junctions consist of two gap junction hemi-channels, or connexons, one contributed by each membrane through which the gap junction passes.","definition_xrefs":["GOC:dgh","GOC:mtg_transport","ISBN:0815340729"],"direct_ancestors":[{"relation_name":"is_a","term_name":"wide pore channel activity","termid":"GO:0022829"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0022857"},{"rel_name":"is_a","termid":"GO:0005215"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0022857","GO:0005215","GO:0003674"],"is_obsolete":false,"name":"gap junction channel activity","secondary_identifiers":["GO:0015286","Reactome:R-HSA-190681","Reactome:R-HSA-375340","Reactome:R-HSA-375339","Reactome:R-HSA-375330","Reactome:R-HSA-375342","GO:0015285"],"synonyms":[{"name":"connexin","type":"related"},{"name":"innexin","type":"narrow"},{"name":"innexin channel activity","type":"exact"},{"name":"intercellular channel","type":"broad"}],"termid":"GO:0005243"}


id: PBO:0052031
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Jrk helix-turn-helix protein","termid":"PBO:0052031"}


id: PBO:0055049
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"long intergenic non-protein coding RNA 2464","termid":"PBO:0055049"}


id: PBO:0028596
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-increased_UDP-N-acetylglucosamine-dolichyl-phosphate_N-acetylglucosaminephosphotransferase_activity","termid":"PBO:0028596"}


id: PBO:0000982
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"small nucleolar RNA snR96","termid":"PBO:0000982"}


id: PBO:0018243
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"tRNA queuosine modification protein","termid":"PBO:0018243"}


id: PBO:0057046
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 135a-1","termid":"PBO:0057046"}


id: MONDO:1010098
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Any congenital heart disease caused by pathogenic variation(s) in the TFAP2B gene, which encodes the transcription factor AP-2β. This disorder is characterized by patent ductus arteriosus, facial dysmorphism and hand anomalies. Additional features include sensorineural hearing loss, scoliosis, dental anomalies, and central diabetes insipidus. Given the spectrum of symptoms associated with this condition, patients may exhibit a combination of these features. The underlying mechanism of the spectrum disorder is both dominant negative and loss-of-function. Pathogenic missense variants reported in Char syndrome patients appear to be dominant negative while loss-of-function alleles in PDA patients are likely to act through haploinsufficiency.","definition_xrefs":["Orphanet:46627","Orphanet:466729","PMID:31012281"],"direct_ancestors":[{"relation_name":"is_a","term_name":"congenital heart disease","termid":"MONDO:0005453"},{"relation_name":"is_a","term_name":"cardiogenetic disease","termid":"MONDO:0100547"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005267"}],"interesting_parent_ids":["MONDO:0005267"],"is_obsolete":false,"name":"TFAP2B-related congenital heart disease spectrum disorder","synonyms":[{"name":"TFAP2B-related PDA and Char syndrome spectrum disorder","type":"exact"}],"termid":"MONDO:1010098","xrefs":{"Monarch":{"xref_id":"1010098"}}}


id: MONDO:0015056
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Acquired angioedema type 1 (AAE 1) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.","definition_xrefs":["Orphanet:100056"],"direct_ancestors":[{"relation_name":"is_a","term_name":"acquired angioedema","termid":"MONDO:0019624"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005093"}],"interesting_parent_ids":["MONDO:0005093"],"is_obsolete":false,"name":"acquired angioedema type 1","secondary_identifiers":["MEDGEN:1814460","UMLS:C5680380","GARD:19748"],"synonyms":[{"name":"acquired angioneurotic edema type 1","type":"exact"},{"name":"acquired angioneurotic oedema type 1","type":"exact"}],"termid":"MONDO:0015056","xrefs":{"Monarch":{"xref_id":"0015056"}}}


id: MONDO:0019213
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"OBSOLETE. A inherited organic acidemia that involves the brain.","definition_xrefs":["MONDO:patterns/location"],"gene_count":0,"genotype_count":0,"name":"obsolete cerebral organic aciduria (obsolete MONDO:0019213)","secondary_identifiers":["Orphanet:79158","icd11.foundation:1644149132"],"synonyms":[{"name":"brain inherited organic acidemia","type":"exact"},{"name":"inherited organic acidemia of brain","type":"exact"}],"termid":"MONDO:0019213","xrefs":{"Monarch":{"xref_id":"0019213"}}}


id: PBO:0039515
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ankyrin repeat domain 30B pseudogene 3","termid":"PBO:0039515"}


id: PBO:0071160
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein L23","termid":"PBO:0071160"}


id: GO:0051702
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"An interaction between two organisms living together in more or less intimate association. The term symbiont is used for the smaller (macro) of the two members of a symbiosis; the various forms of symbiosis include parasitism, commensalism and mutualism.","definition_xrefs":["GOC:cc"],"direct_ancestors":[{"relation_name":"is_a","term_name":"biological process involved in symbiotic interaction","termid":"GO:0044403"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"biological process involved in interaction with symbiont","synonyms":[{"name":"interaction with symbiont","type":"related"}],"termid":"GO:0051702"}


id: GO:0106302
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of an NADPH- and oxygen-dependent reaction that converts arachidonic acid to cis-8,9-epoxyeicosatrienoic acid.","definition_xrefs":["PMID:10491410","RHEA:64984","PMID:8246128"],"direct_ancestors":[{"relation_name":"is_a","term_name":"arachidonate epoxygenase activity","termid":"GO:0008392"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0016491"}],"interesting_parent_ids":["GO:0003674","GO:0003824","GO:0016491"],"is_obsolete":false,"name":"arachidonate 8,9-epoxygenase activity","synonyms":[{"name":"arachidonic acid 8,9-epoxygenase activity","type":"exact"}],"termid":"GO:0106302"}


id: PBO:0034158
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-results_in_ending_of","termid":"PBO:0034158"}


id: PBO:0056108
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"LYPLA1 pseudogene 3","termid":"PBO:0056108"}


id: PBO:0114134
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"sulfite transmembrane transporter Ssu1","termid":"PBO:0114134"}


id: GO:0099587
data:
  {"annotated_genes":["SJAG_02968","SJAG_04830","SJAG_02883","SJAG_05229","SJAG_01353","SJAG_02463","SJAG_01090","SJAG_00296","SJAG_03631","SJAG_04185","SJAG_04246","SJAG_02877","SJAG_01493","SJAG_04668","SJAG_04551"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[74818,67332,114740,92738],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0098703"},{"annotations":[88282,114893],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0098705"},{"annotations":[113520],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0098711"},{"annotations":[113670,91556],"is_not":false,"rel_names":["negatively_regulates","regulates"],"summary":null,"term":"GO:1905949"},{"annotations":[80300],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0098716"},{"annotations":[102464],"is_not":false,"rel_names":["positively_regulates","regulates"],"summary":null,"term":"GO:1905665"},{"annotations":[70934,72640],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1990573"},{"annotations":[110431],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1902434"},{"annotations":[104493,113521],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0071578"}]},"cv_name":"biological_process","definition":"The directed movement of inorganic ions from outside of a cell, across the plasma membrane and into the cytosol.","definition_xrefs":["GOC:dos"],"direct_ancestors":[{"relation_name":"is_a","term_name":"inorganic ion transmembrane transport","termid":"GO:0098660"},{"relation_name":"is_a","term_name":"import across plasma membrane","termid":"GO:0098739"}],"gene_count":15,"genes_by_uniquename":{"SJAG_00296":null,"SJAG_01090":null,"SJAG_01353":null,"SJAG_01493":null,"SJAG_02463":null,"SJAG_02877":null,"SJAG_02883":null,"SJAG_02968":null,"SJAG_03631":null,"SJAG_04185":null,"SJAG_04246":null,"SJAG_04551":null,"SJAG_04668":null,"SJAG_04830":null,"SJAG_05229":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0006810"},{"rel_name":"is_a","termid":"GO:0051179"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0055085"}],"interesting_parent_ids":["GO:0051179","GO:0006810","GO:0008150","GO:0055085"],"is_obsolete":false,"name":"inorganic ion import across plasma membrane","references_by_uniquename":{"GO_REF:0000002":null,"GO_REF:0000033":null,"GO_REF:0000107":null},"synonyms":[{"name":"inorganic ion import into cell","type":"exact"}],"termid":"GO:0099587","terms_by_termid":{"GO:0071578":null,"GO:0098703":null,"GO:0098705":null,"GO:0098711":null,"GO:0098716":null,"GO:1902434":null,"GO:1905665":null,"GO:1905949":null,"GO:1990573":null}}


id: PBO:0091635
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"sub-telomeric 5Tm protein family Ftm4","termid":"PBO:0091635"}


id: PBO:0069691
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U6 small nuclear 970, pseudogene","termid":"PBO:0069691"}


id: PBO:0055813
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"lipin 1","termid":"PBO:0055813"}


id: PBO:0066779
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RN7SK pseudogene 77","termid":"PBO:0066779"}


id: GO:0072241
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process whose specific outcome is the progression of a metanephric distal convoluted tubule cell over time, from its formation to the mature structure.","definition_xrefs":["GOC:mtg_kidney_jan10"],"direct_ancestors":[{"relation_name":"is_a","term_name":"DCT cell development","termid":"GO:0072140"},{"relation_name":"part_of","term_name":"metanephric DCT cell differentiation","termid":"GO:0072240"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"metanephric DCT cell development","synonyms":[{"name":"metanephric distal convoluted tubule cell development","type":"exact"}],"termid":"GO:0072241"}


id: MONDO:0021058
data:
  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id: MONDO:0001318
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id: MONDO:0008191
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id: PBO:0038385
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id: PBO:0044100
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id: GO:0033904
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id: MONDO:0004788
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id: GO:0071360
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id: FYPO:0003552
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id: PBO:0000790
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id: PATO:0000839
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id: GO:1905029
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id: PBO:0027809
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id: PATO:0002131
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id: GO:0010250
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id: MONDO:1012249
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id: PBO:0089995
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id: PBO:0079983
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id: PBO:0066325
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id: PBO:0052888
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id: MONDO:0700096
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