# terms

id: MONDO:0003488
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete anal squamous cell carcinoma (obsolete MONDO:0003488)","termid":"MONDO:0003488","xrefs":{"Monarch":{"xref_id":"0003488"}}}


id: GO:0016620
data:
  {"annotated_genes":["SJAG_00234","SJAG_00482","SJAG_02945","SJAG_03903","SJAG_02235","SJAG_02961","SJAG_00660","SJAG_06622","SJAG_02135","SJAG_03828","SJAG_01869","SJAG_00027","SJAG_00674","SJAG_03293","SJAG_06621","SJAG_03786","SJAG_00636","SJAG_00869"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[78383],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0003842"},{"annotations":[101229],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0140087"},{"annotations":[78965,76450],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0004029"},{"annotations":[92175],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0051269"},{"annotations":[64675],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0004073"},{"annotations":[76439],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0004350"},{"annotations":[109780,109777,75086,80784,109783,109778,72883],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0004365"},{"annotations":[65114],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0004043"},{"annotations":[71861],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0003942"},{"annotations":[76414,77920],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0004777"},{"annotations":[87793,88775],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0036243"}]},"cv_name":"molecular_function","definition":"Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces NAD or NADP.","definition_xrefs":["GOC:jl"],"direct_ancestors":[{"relation_name":"is_a","term_name":"oxidoreductase activity, acting on the aldehyde or oxo group of donors","termid":"GO:0016903"}],"gene_count":18,"genes_by_uniquename":{"SJAG_00027":null,"SJAG_00234":null,"SJAG_00482":null,"SJAG_00636":null,"SJAG_00660":null,"SJAG_00674":null,"SJAG_00869":null,"SJAG_01869":null,"SJAG_02135":null,"SJAG_02235":null,"SJAG_02945":null,"SJAG_02961":null,"SJAG_03293":null,"SJAG_03786":null,"SJAG_03828":null,"SJAG_03903":null,"SJAG_06621":null,"SJAG_06622":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0016491"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0003824"}],"interesting_parent_ids":["GO:0003824","GO:0003674","GO:0016491"],"is_obsolete":false,"name":"oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor","references_by_uniquename":{"GO_REF:0000003":null,"GO_REF:0000033":null,"GO_REF:0000107":null},"secondary_identifiers":["EC:1.2.1.-","Reactome:R-HSA-1222583"],"termid":"GO:0016620","terms_by_termid":{"GO:0003842":null,"GO:0003942":null,"GO:0004029":null,"GO:0004043":null,"GO:0004073":null,"GO:0004350":null,"GO:0004365":null,"GO:0004777":null,"GO:0036243":null,"GO:0051269":null,"GO:0140087":null}}


id: PR:O13795
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- pof8 gene.","definition_xrefs":["UniProtKB:O13795","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":"protein pof8 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAC17G6.17","synonyms":[{"name":"Spom972h-pof8","type":"exact"}],"termid":"PR:O13795"}


id: GO:0045907
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that activates or increases the frequency, rate or extent of vasoconstriction.","definition_xrefs":["GOC:go_curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of vasoconstriction","termid":"GO:0019229"},{"relation_name":"is_a","term_name":"positive regulation of multicellular organismal process","termid":"GO:0051240"},{"relation_name":"positively_regulates","term_name":"vasoconstriction","termid":"GO:0042310"}],"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 vasoconstriction","synonyms":[{"name":"activation of vasoconstriction","type":"narrow"},{"name":"stimulation of vasoconstriction","type":"narrow"},{"name":"up regulation of vasoconstriction","type":"exact"},{"name":"up-regulation of vasoconstriction","type":"exact"},{"name":"upregulation of vasoconstriction","type":"exact"}],"termid":"GO:0045907"}


id: MONDO:0019164
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.","definition_xrefs":["Orphanet:75857"],"direct_ancestors":[{"relation_name":"is_a","term_name":"syndromic disease","termid":"MONDO:0002254"},{"relation_name":"is_a","term_name":"partial deletion of the long arm of chromosome 6","termid":"MONDO:0016905"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"6q terminal deletion syndrome","secondary_identifiers":["MEDGEN:930183","SCTID:719666002","UMLS:C4304514","GARD:18931"],"termid":"MONDO:0019164","xrefs":{"Monarch":{"xref_id":"0019164"}}}


id: MONDO:0008564
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.","definition_xrefs":["NCIT:P378"],"direct_ancestors":[{"relation_name":"is_a","term_name":"congenital T-cell immunodeficiency","termid":"MONDO:0001222"},{"relation_name":"is_a","term_name":"22q11.2 deletion syndrome","termid":"MONDO:0018923"},{"relation_name":"is_a","term_name":"neurocristopathy","termid":"MONDO:0021635"},{"relation_name":"is_a","term_name":"hereditary neurological disease","termid":"MONDO:0100545"},{"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:0002320"},{"rel_name":"is_a","termid":"MONDO:0005046"},{"rel_name":"is_a","termid":"MONDO:0005267"}],"interesting_parent_ids":["MONDO:0002320","MONDO:0005267","MONDO:0005046"],"is_obsolete":false,"name":"DiGeorge syndrome","secondary_identifiers":["DOID:11198","NANDO:1200688","ICD9:279.11","MESH:D004062","NANDO:1200339","NANDO:2200712","NCIT:C2989","OMIM:188400","MEDGEN:4297","UMLS:C0012236","SCTID:77128003","GARD:15118","GTR:AN1145678"],"synonyms":[{"name":"22q deletion syndrome(s)","type":"exact"},{"name":"22q11.2 Deletion syndrome","type":"exact"},{"name":"Catch22","type":"related"},{"name":"DGS","type":"exact"},{"name":"DGS1","type":"exact"},{"name":"Di-George syndrome","type":"exact"},{"name":"DiGeorge anomaly","type":"exact"},{"name":"DiGeorge syndrome","type":"exact"},{"name":"DiGeorge syndrome chromosome region","type":"related"},{"name":"DiGeorge syndrome type 1","type":"exact"},{"name":"DiGeorge's syndrome","type":"exact"},{"name":"Shprintzen syndrome","type":"narrow"},{"name":"Sphrintzen","type":"narrow"},{"name":"Takao VCF syndrome","type":"related"},{"name":"VCF","type":"related"},{"name":"chromosome 22Q11.2 deletion syndrome","type":"related"},{"name":"hypoplasia of thymus and parathyroids","type":"related"},{"name":"pharyngeal pouch syndrome","type":"exact"},{"name":"third and fourth pharyngeal pouch syndrome","type":"related"},{"name":"velo-cardio-facial syndrome","type":"related"},{"name":"velocardiofacial syndrome","type":"related"}],"termid":"MONDO:0008564","xrefs":{"Monarch":{"xref_id":"0008564"}}}


id: GO:0015277
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"An ionotropic glutamate receptor activity that exhibits fast gating by glutamate, acts by opening a cation channel permeable to sodium and potassium, and for which kainate is an agonist.","definition_xrefs":["PMID:8804111","PMID:10049997","GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"glutamate-gated receptor activity","termid":"GO:0004970"},{"relation_name":"is_a","term_name":"potassium channel activity","termid":"GO:0005267"},{"relation_name":"is_a","term_name":"ligand-gated sodium channel activity","termid":"GO:0015280"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0038023"},{"rel_name":"is_a","termid":"GO:0005215"},{"rel_name":"is_a","termid":"GO:0022857"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0022857","GO:0003674","GO:0005215","GO:0038023"],"is_obsolete":false,"name":"kainate selective glutamate receptor activity","termid":"GO:0015277"}


id: GO:0047327
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: sn-glycerol 3-phosphate + D-glucose = D-glucose 6-phosphate + glycerol.","definition_xrefs":["RHEA:21288","EC:2.7.1.142"],"direct_ancestors":[{"relation_name":"is_a","term_name":"kinase activity","termid":"GO:0016301"},{"relation_name":"is_a","term_name":"phosphotransferase activity, alcohol group as acceptor","termid":"GO:0016773"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0016740"},{"rel_name":"is_a","termid":"GO:0016301"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0003824","GO:0016740","GO:0016301","GO:0003674"],"is_obsolete":false,"name":"glycerol-3-phosphate-glucose phosphotransferase activity","secondary_identifiers":["MetaCyc:2.7.1.142-RXN","KEGG_REACTION:R00850"],"synonyms":[{"name":"sn-glycerol-3-phosphate:D-glucose 6-phosphotransferase activity","type":"related"}],"termid":"GO:0047327"}


id: PBO:0088987
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"mitochondrial outer membrane anchored ubiquitin C-terminal hydrolase Ubp11","termid":"PBO:0088987"}


id: MONDO:0017246
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"congenital pulmonary sequestration","termid":"MONDO:0017843"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"extralobar congenital pulmonary sequestration","secondary_identifiers":["MEDGEN:1843113","Orphanet:280811","GARD:21091","UMLS:C5679951"],"synonyms":[{"name":"congenital extrapulmonary sequestration","type":"exact"},{"name":"extralobar congenital bronchopulmonary sequestration","type":"exact"}],"termid":"MONDO:0017246","xrefs":{"Monarch":{"xref_id":"0017246"}}}


id: GO:0047775
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: acetyl-CoA + citramalate = acetate + (3S)-citramalyl-CoA.","definition_xrefs":["MetaCyc:CITRAMALATE-COA-TRANSFERASE-RXN","EC:2.8.3.11"],"direct_ancestors":[{"relation_name":"is_a","term_name":"CoA-transferase activity","termid":"GO:0008410"}],"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:0016740"},{"rel_name":"is_a","termid":"GO:0016782"}],"interesting_parent_ids":["GO:0003824","GO:0003674","GO:0016740","GO:0016782"],"is_obsolete":false,"name":"citramalate CoA-transferase activity","secondary_identifiers":["RHEA:17621"],"synonyms":[{"name":"acetyl-CoA:citramalate CoA-transferase activity","type":"related"}],"termid":"GO:0047775"}


id: PBO:0091107
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"wybutosine biosynthesis protein Tyw3","termid":"PBO:0091107"}


id: GO:1900833
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the formation of D-leucine.","definition_xrefs":["GOC:TermGenie","PMID:10918062"],"direct_ancestors":[{"relation_name":"is_a","term_name":"branched-chain amino acid biosynthetic process","termid":"GO:0009082"},{"relation_name":"is_a","term_name":"D-amino acid biosynthetic process","termid":"GO:0046437"},{"relation_name":"is_a","term_name":"D-leucine metabolic process","termid":"GO:1900831"}],"gene_count":0,"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":"D-leucine biosynthetic process","synonyms":[{"name":"D-leucine anabolism","type":"exact"},{"name":"D-leucine biosynthesis","type":"exact"},{"name":"D-leucine formation","type":"exact"},{"name":"D-leucine synthesis","type":"exact"}],"termid":"GO:1900833"}


id: PBO:0073180
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"selenoprotein K pseudogene 2","termid":"PBO:0073180"}


id: PBO:0084519
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Member of DUP240 gene family but contains no transmembrane domains; green fluorescent protein (GFP)-fusion protein localizes to the cytoplasm in a punctate pattern","termid":"PBO:0084519"}


id: GO:0014705
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"A region of the A band in which myosin-binding protein C is located and that can be seen by electron microscopy. This is a functional zone that also includes myosin.","definition_xrefs":["GOC:mtg_muscle"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cellular anatomical structure","termid":"GO:0110165"},{"relation_name":"part_of","term_name":"A band","termid":"GO:0031672"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"part_of","termid":"GO:0005737"},{"rel_name":"is_a","termid":"GO:0005575"}],"interesting_parent_ids":["GO:0005737","GO:0005575"],"is_obsolete":false,"name":"C zone","termid":"GO:0014705"}


id: PBO:0017588
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"mitochondrial electron transfer flavoprotein-ubiquinone oxidoreductase Cir2 (predicted)","termid":"PBO:0017588"}


id: PBO:0113491
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Transcription factor; regulates multidrug resistance and the oxidative stress response; forms a heterodimer with Pdr1p; contains a Zn(II)2Cys6 zinc finger domain that interacts with a pleiotropic drug resistance element in vitro; negative regulator of autophagy, modulating the transcription of genes involved in NADPH production and the pentose phosphate pathway; Stb5p expression is reduced during nitrogen starvation and autophagy induction, while STB5 mRNA levels are significantly increased","termid":"PBO:0113491"}


id: PBO:0017563
data:
  {"annotation_feature_type":"gene","cv_name":"disease_associated","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"nonprogressive congenital ataxia","termid":"PBO:0017563"}


id: PBO:0091801
data:
  {"annotation_feature_type":"gene","cv_name":"misc","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"DNA polymerase delta synthesizes both leading and lagging strands after homologous recombination-dependent replication fork restart","termid":"PBO:0091801"}


id: PBO:0053092
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"late cornified envelope 2D","termid":"PBO:0053092"}


id: GO:1900353
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that activates or increases the frequency, rate or extent of methanofuran biosynthetic process.","definition_xrefs":["GOC:mengo_curators","GOC:TermGenie"],"direct_ancestors":[{"relation_name":"is_a","term_name":"positive regulation of biosynthetic process","termid":"GO:0009891"},{"relation_name":"is_a","term_name":"positive regulation of pteridine metabolic process","termid":"GO:0045864"},{"relation_name":"is_a","term_name":"regulation of methanofuran biosynthetic process","termid":"GO:1900351"},{"relation_name":"is_a","term_name":"positive regulation of methanofuran metabolic process","termid":"GO:1900356"},{"relation_name":"positively_regulates","term_name":"methanofuran biosynthetic process","termid":"GO:2001120"}],"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 methanofuran biosynthetic process","synonyms":[{"name":"up regulation of methanofuran biosynthetic process","type":"exact"},{"name":"up-regulation of methanofuran biosynthesis","type":"exact"},{"name":"up-regulation of methanofuran biosynthetic process","type":"exact"},{"name":"upregulation of methanofuran biosynthesis","type":"exact"},{"name":"activation of methanofuran biosynthesis","type":"exact"},{"name":"activation of methanofuran biosynthetic process","type":"narrow"},{"name":"positive regulation of methanofuran biosynthesis","type":"exact"},{"name":"up regulation of methanofuran biosynthesis","type":"exact"},{"name":"upregulation of methanofuran biosynthetic process","type":"exact"}],"termid":"GO:1900353"}


id: MONDO:0017256
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"anterior uveitis","termid":"MONDO:0006651"},{"relation_name":"is_a","term_name":"idiopathic disease","termid":"MONDO:0700007"}],"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":"idiopathic anterior uveitis","secondary_identifiers":["UMLS:C0339315","SCTID:231947004","MEDGEN:573079","Orphanet:280914"],"termid":"MONDO:0017256","xrefs":{"Monarch":{"xref_id":"0017256"}}}


id: PBO:0058609
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 6741","termid":"PBO:0058609"}


id: PBO:0083974
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Glucose-repressible ADP-ribosylation factor; GTPase of Ras superfamily involved in regulating cell polarity and invasive growth; localizes to dynamic spots at plasma membrane and modulates PtdIns(4,5)P2 levels to facilitate endocytosis; required for localization of endocytic protein Lsb5p to correct cortical site in cells; also has mRNA binding activity; homolog of mammalian Arf6","termid":"PBO:0083974"}


id: GO:1904873
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents or reduces the frequency, rate or extent of telomerase RNA localization to Cajal body.","definition_xrefs":["GOC:TermGenie","PMID:25467444","GOC:BHF","GO_REF:0000058","GOC:BHF_telomere","GOC:nc"],"direct_ancestors":[{"relation_name":"is_a","term_name":"negative regulation of biological process","termid":"GO:0048519"},{"relation_name":"is_a","term_name":"regulation of telomerase RNA localization to Cajal body","termid":"GO:1904872"},{"relation_name":"negatively_regulates","term_name":"telomerase RNA localization to Cajal body","termid":"GO:0090671"}],"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 telomerase RNA localization to Cajal body","synonyms":[{"name":"down regulation of telomerase RNA localization to Cajal body","type":"exact"},{"name":"down-regulation of telomerase RNA localization to Cajal body","type":"exact"},{"name":"downregulation of telomerase RNA localization to Cajal body","type":"exact"},{"name":"inhibition of telomerase RNA localization to Cajal body","type":"narrow"}],"termid":"GO:1904873"}


id: MONDO:0002951
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A variant of basal cell carcinoma morphologically characterized by the presence of thin strands of basaloid cells forming a reticulate pattern.","definition_xrefs":["NCIT:C27535"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"tonsil cancer","termid":"MONDO:0006998"},{"relation_name":"is_a","term_name":"skin basal cell carcinoma","termid":"MONDO:0005341"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005093"},{"rel_name":"is_a","termid":"MONDO:0004992"}],"interesting_parent_ids":["MONDO:0005093","MONDO:0004992"],"is_obsolete":false,"name":"skin adenoid basal cell carcinoma","secondary_identifiers":["UMLS:C1304296","DOID:4294","ICDO:8098/3","MEDGEN:266272","SCTID:402525008"],"synonyms":[{"name":"adenoid basal cell carcinoma","type":"exact"},{"name":"skin adenoid basal cell carcinoma","type":"exact"}],"termid":"MONDO:0002951","xrefs":{"Monarch":{"xref_id":"0002951"}}}


id: PBO:0056399
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"MAPRE3 antisense RNA 1","termid":"PBO:0056399"}


id: GO:0106413
data:
  {"annotated_genes":["SJAG_00174","SJAG_03236","SJAG_03240","SJAG_01041"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[110013,89814,118815,105061],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0106414"},{"annotations":[110014],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0102262"},{"annotations":[110015],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0102263"},{"annotations":[105062],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0102264"},{"annotations":[118816],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0102266"},{"annotations":[118817],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0102267"},{"annotations":[66186],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0102265"}]},"cv_name":"molecular_function","definition":"Catalysis of the reaction: RNA-uracil + NAD(P)+ = RNA-dihydrouridine + NAD(P)H + H+.","definition_xrefs":["PMID:12581659","PMID:25073379"],"direct_ancestors":[{"relation_name":"is_a","term_name":"oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor","termid":"GO:0016628"}],"gene_count":4,"genes_by_uniquename":{"SJAG_00174":null,"SJAG_01041":null,"SJAG_03236":null,"SJAG_03240":null},"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":"RNA dihydrouridine synthase activity","references_by_uniquename":{"GO_REF:0000003":null,"GO_REF:0000107":null},"termid":"GO:0106413","terms_by_termid":{"GO:0102262":null,"GO:0102263":null,"GO:0102264":null,"GO:0102265":null,"GO:0102266":null,"GO:0102267":null,"GO:0106414":null}}


id: GO:0002096
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"A punctate, filamentous structure composed of Bcl10 that appears in the cytoplasm of T-cells shortly after T-cell receptor stimulation. Polkadots stands for Punctate Oligomeric Killing and Activating DOmains Transducing Signals.","definition_xrefs":["PMID:14724296","PMID:16495340"],"direct_ancestors":[{"relation_name":"is_a","term_name":"protein-containing complex","termid":"GO:0032991"},{"relation_name":"part_of","term_name":"cytoplasm","termid":"GO:0005737"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"part_of","termid":"GO:0005737"},{"rel_name":"is_a","termid":"GO:0005575"},{"rel_name":"is_a","termid":"GO:0032991"}],"interesting_parent_ids":["GO:0032991","GO:0005737","GO:0005575"],"is_obsolete":false,"name":"polkadots","termid":"GO:0002096"}


id: GO:2001035
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of tongue muscle cell differentiation.","definition_xrefs":["GOC:obol"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of skeletal muscle fiber differentiation","termid":"GO:1902809"},{"relation_name":"regulates","term_name":"tongue muscle cell differentiation","termid":"GO:0035981"}],"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 tongue muscle cell differentiation","termid":"GO:2001035"}


id: PBO:0043347
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"colipase","termid":"PBO:0043347"}


id: PBO:0065202
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"PRPF31 antisense RNA 1","termid":"PBO:0065202"}


id: GO:1900747
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents or reduces the frequency, rate or extent of vascular endothelial growth factor signaling pathway.","definition_xrefs":["GOC:TermGenie"],"direct_ancestors":[{"relation_name":"is_a","term_name":"negative regulation of signal transduction","termid":"GO:0009968"},{"relation_name":"is_a","term_name":"regulation of vascular endothelial growth factor signaling pathway","termid":"GO:1900746"},{"relation_name":"is_a","term_name":"negative regulation of cellular response to vascular endothelial growth factor stimulus","termid":"GO:1902548"},{"relation_name":"negatively_regulates","term_name":"vascular endothelial growth factor signaling pathway","termid":"GO:0038084"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"regulates","termid":"GO:0023052"},{"rel_name":"negatively_regulates","termid":"GO:0023052"}],"interesting_parent_ids":["GO:0008150","GO:0023052"],"is_obsolete":false,"name":"negative regulation of vascular endothelial growth factor signaling pathway","synonyms":[{"name":"down regulation of VEGF signaling","type":"exact"},{"name":"down regulation of VEGF-activated signaling pathway","type":"exact"},{"name":"down regulation of vascular endothelial growth factor signaling pathway","type":"exact"},{"name":"down regulation of vascular endothelial growth factor signalling pathway","type":"exact"},{"name":"down-regulation of VEGF signaling","type":"exact"},{"name":"down-regulation of VEGF-activated signaling pathway","type":"exact"},{"name":"down-regulation of vascular endothelial growth factor signaling pathway","type":"exact"},{"name":"down-regulation of vascular endothelial growth factor signalling pathway","type":"exact"},{"name":"downregulation of VEGF signaling","type":"exact"},{"name":"downregulation of VEGF-activated signaling pathway","type":"exact"},{"name":"downregulation of vascular endothelial growth factor signaling pathway","type":"exact"},{"name":"downregulation of vascular endothelial growth factor signalling pathway","type":"exact"},{"name":"inhibition of VEGF signaling","type":"exact"},{"name":"inhibition of VEGF-activated signaling pathway","type":"exact"},{"name":"inhibition of vascular endothelial growth factor signaling pathway","type":"narrow"},{"name":"inhibition of vascular endothelial growth factor signalling pathway","type":"exact"},{"name":"negative regulation of VEGF signaling","type":"exact"},{"name":"negative regulation of VEGF-activated signaling pathway","type":"exact"},{"name":"negative regulation of vascular endothelial growth factor signalling pathway","type":"exact"}],"termid":"GO:1900747"}


id: GO:0000026
data:
  {"annotated_genes":["SJAG_04906","SJAG_00747","SJAG_05327","SJAG_03878","SJAG_00334","SJAG_00598","SJAG_01264","SJAG_02519","SJAG_03082","SJAG_01021"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[74937,75165,75337,75903,77438,77984,78392,79711],"is_not":false,"summary":null,"term":"GO:0000026"},{"annotations":[62802],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0052926"},{"annotations":[62801],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0052918"},{"annotations":[77093],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0004377"}]},"cv_name":"molecular_function","definition":"Catalysis of the transfer of a mannose residue to an oligosaccharide, forming an alpha-(1->2) linkage.","definition_xrefs":["GOC:mcc","PMID:10521541"],"direct_ancestors":[{"relation_name":"is_a","term_name":"mannosyltransferase activity","termid":"GO:0000030"}],"gene_count":10,"genes_by_uniquename":{"SJAG_00334":null,"SJAG_00598":null,"SJAG_00747":null,"SJAG_01021":null,"SJAG_01264":null,"SJAG_02519":null,"SJAG_03082":null,"SJAG_03878":null,"SJAG_04906":null,"SJAG_05327":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0016757"},{"rel_name":"is_a","termid":"GO:0016740"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0003824"}],"interesting_parent_ids":["GO:0016740","GO:0003824","GO:0016757","GO:0003674"],"is_obsolete":false,"name":"alpha-1,2-mannosyltransferase activity","references_by_uniquename":{"GO_REF:0000003":null,"GO_REF:0000033":null},"secondary_identifiers":["Reactome:R-HSA-9035514","Reactome:R-HSA-4551297","Reactome:R-HSA-446215","Reactome:R-HSA-446216","Reactome:R-HSA-446187","Reactome:R-HSA-4720478"],"termid":"GO:0000026","terms_by_termid":{"GO:0000026":null,"GO:0004377":null,"GO:0052918":null,"GO:0052926":null}}


id: MONDO:0012734
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs.","definition_xrefs":["Orphanet:139466"],"direct_ancestors":[{"relation_name":"is_a","term_name":"46 XX gonadal dysgenesis","termid":"MONDO:0009299"}],"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":"SERKAL syndrome","secondary_identifiers":["NCIT:C123726","MESH:C567517","OMIM:611812","UMLS:C2678492","GARD:10302","SCTID:723720008","MEDGEN:394528"],"synonyms":[{"name":"46,XX SEX reversal with dysgenesis of kidneys, ADRENALS, and lungs","type":"related"},{"name":"46,XX Sex reversal with dysgenesis of kidneys Adrenals and lungs","type":"exact"},{"name":"SERKAL","type":"related"},{"name":"SERKAL syndrome","type":"exact"},{"name":"Sex reversion-kidneys, adrenal and lung dysgenesis syndrome","type":"exact"}],"termid":"MONDO:0012734","xrefs":{"Monarch":{"xref_id":"0012734"}}}


id: GO:0005685
data:
  {"annotated_genes":["SJAG_01301","SJAG_03983","SJAG_01870","SJAG_05009","SJAG_04214","SJAG_00058","SJAG_01440","SJAG_01654","SJAG_03469","SJAG_04163","SJAG_02304","SJAG_00147","SJAG_04911","SJAG_02843","SJAG_01015","SJAG_00474","SJAG_02279"],"annotation_feature_type":"gene","cv_annotations":{"cellular_component":[{"annotations":[70451,70864,73092,73525,74424,74505,76054,77069,77175,77463,79686,79919,94361,103072,107315,112757,113664],"is_not":false,"summary":null,"term":"GO:0005685"}]},"cv_name":"cellular_component","definition":"A ribonucleoprotein complex that contains small nuclear RNA U1, a heptameric ring of Sm proteins, as well as several proteins that are unique to the U1 snRNP, most of which remain associated with the U1 snRNA both while the U1 snRNP is free or assembled into a series of spliceosomal complexes.","definition_xrefs":["GOC:mah","GOC:krc","ISBN:0879695897"],"direct_ancestors":[{"relation_name":"is_a","term_name":"spliceosomal snRNP complex","termid":"GO:0097525"}],"gene_count":17,"genes_by_uniquename":{"SJAG_00058":null,"SJAG_00147":null,"SJAG_00474":null,"SJAG_01015":null,"SJAG_01301":null,"SJAG_01440":null,"SJAG_01654":null,"SJAG_01870":null,"SJAG_02279":null,"SJAG_02304":null,"SJAG_02843":null,"SJAG_03469":null,"SJAG_03983":null,"SJAG_04163":null,"SJAG_04214":null,"SJAG_04911":null,"SJAG_05009":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005575"},{"rel_name":"is_a","termid":"GO:0032991"},{"rel_name":"part_of","termid":"GO:0005634"}],"interesting_parent_ids":["GO:0005634","GO:0032991","GO:0005575"],"is_obsolete":false,"name":"U1 snRNP","references_by_uniquename":{"GO_REF:0000033":null,"GO_REF:0000107":null},"synonyms":[{"name":"snRNP U1","type":"exact"}],"termid":"GO:0005685","terms_by_termid":{"GO:0005685":null}}


id: PBO:0088132
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Vacuolar membrane protein of unknown function; is conserved in mammals; predicted to contain eleven transmembrane helices; interacts with Pdr5p, a protein involved in multidrug resistance","termid":"PBO:0088132"}


id: PBO:0044547
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"death associated protein 3 pseudogene 1","termid":"PBO:0044547"}


id: PBO:0064449
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"podocalyxin like","termid":"PBO:0064449"}


id: PBO:0036221
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-abnormal_arginase_activity","termid":"PBO:0036221"}


id: PBO:0069604
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U6 small nuclear 881, pseudogene","termid":"PBO:0069604"}


id: GO:0047766
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: O-carbamoyl-L-serine + H2O + H+ = CO2 + 2 NH4 + pyruvate.","definition_xrefs":["EC:4.3.1.13","RHEA:15445"],"direct_ancestors":[{"relation_name":"is_a","term_name":"ammonia-lyase activity","termid":"GO:0016841"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0016829"},{"rel_name":"is_a","termid":"GO:0003824"}],"interesting_parent_ids":["GO:0003674","GO:0016829","GO:0003824"],"is_obsolete":false,"name":"carbamoyl-serine ammonia-lyase activity","secondary_identifiers":["KEGG_REACTION:R00213","MetaCyc:CARBAMOYL-SERINE-AMMONIA-LYASE-RXN"],"synonyms":[{"name":"O-carbamoyl-L-serine ammonia-lyase (decarboxylating; pyruvate-forming)","type":"related"},{"name":"O-carbamoyl-L-serine ammonia-lyase (pyruvate-forming)","type":"related"},{"name":"O-carbamoyl-L-serine deaminase activity","type":"related"},{"name":"carbamoylserine deaminase activity","type":"related"}],"termid":"GO:0047766"}


id: PBO:0085486
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Processivity factor; required for the ubiquitination activity of the anaphase promoting complex (APC), mediates the activity of the APC by contributing to substrate recognition; involved in cyclin proteolysis; contains a conserved DOC1 homology domain","termid":"PBO:0085486"}


id: GO:0043473
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The accumulation of pigment in an organism, tissue or cell, either by increased deposition or by increased number of cells.","definition_xrefs":["GOC:jl"],"direct_ancestors":[{"relation_name":"is_a","term_name":"biological_process","termid":"GO:0008150"}],"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":"pigmentation","termid":"GO:0043473"}


id: SO:0001407
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"An attribute describing the nature of a proteinaceous polymer, where by the amino acid units are joined by peptide bonds.","definition_xrefs":["SO:ke"],"direct_ancestors":[{"relation_name":"is_a","term_name":"polymer_attribute","termid":"SO:0000443"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"peptidyl","termid":"SO:0001407"}


id: FYPO:0007277
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A phenotype in which a specific cellular process is normal (i.e. indistinguishable from wild type) in the meiotic cell cycle.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"normal cellular process","termid":"FYPO:0000627"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0000257"}],"interesting_parent_ids":["FYPO:0000257","FYPO:0000002"],"is_obsolete":false,"name":"normal cellular process during meiotic cell cycle","termid":"FYPO:0007277"}


id: PBO:0064550
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"POM121 transmembrane nucleoporin like 12","termid":"PBO:0064550"}


id: MONDO:1010549
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Diprosopus that occurs in sheep.","definition_xrefs":["MONDO:patterns/nonhuman_disease"],"direct_ancestors":[{"relation_name":"is_a","term_name":"diprosopus, non-human animal","termid":"MONDO:1010045"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"diprosopus, sheep","secondary_identifiers":["OMIA:000290-9940"],"termid":"MONDO:1010549","xrefs":{"Monarch":{"xref_id":"1010549"}}}


id: PBO:0068196
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, 5S ribosomal pseudogene 503","termid":"PBO:0068196"}


id: GO:0010080
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process involved in maintaining the size and shape of a floral meristem.","definition_xrefs":["GOC:tb"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of meristem growth","termid":"GO:0010075"},{"relation_name":"is_a","term_name":"regulation of reproductive process","termid":"GO:2000241"},{"relation_name":"regulates","term_name":"floral meristem growth","termid":"GO:0010451"}],"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 floral meristem growth","synonyms":[{"name":"regulation of floral meristem size","type":"exact"}],"termid":"GO:0010080"}


id: GO:0033839
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: UDP-glucose + a flavonol 3-O-beta-D-glucosyl-(1->2)-beta-D-glucoside = UDP + a flavonol 3-O-beta-D-glucosyl-(1->2)-beta-D-glucosyl-(1->2)-beta-D-glucoside.","definition_xrefs":["EC:2.4.1.240"],"direct_ancestors":[{"relation_name":"is_a","term_name":"glucosyltransferase activity","termid":"GO:0046527"}],"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:0016757"},{"rel_name":"is_a","termid":"GO:0016740"}],"interesting_parent_ids":["GO:0003824","GO:0016740","GO:0003674","GO:0016757"],"is_obsolete":false,"name":"flavonol-3-O-glycoside glucosyltransferase activity","secondary_identifiers":["MetaCyc:2.4.1.240-RXN","RHEA:23544"],"synonyms":[{"name":"UDP-glucose:flavonol-3-O-beta-D-glucosyl-(1->2)-beta-D-glucoside 2'''-O-beta-D-glucosyltransferase activity","type":"related"}],"termid":"GO:0033839"}


id: GO:0021800
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The migration of cells in the cerebral cortex in which cells move orthogonally to the direction of radial migration and do not use radial glial cell processes as substrates for migration.","definition_xrefs":["GO_REF:0000021","GOC:dph","GOC:jid","PMID:12626695","GOC:cls","GOC:dgh"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cerebral cortex cell migration","termid":"GO:0021795"}],"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":"cerebral cortex tangential migration","termid":"GO:0021800"}


id: GO:0086073
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The attachment of a bundle of His cell to a Purkinje myocyte via adhesion molecules that results in the cells being juxtaposed so that they can communicate.","definition_xrefs":["GOC:BHF","GOC:mtg_cardiac_conduct_nov11"],"direct_ancestors":[{"relation_name":"is_a","term_name":"heterotypic cell-cell adhesion","termid":"GO:0034113"},{"relation_name":"is_a","term_name":"cardiac muscle cell-cardiac muscle cell adhesion","termid":"GO:0086042"},{"relation_name":"part_of","term_name":"bundle of His cell to Purkinje myocyte communication","termid":"GO:0086069"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0007155"}],"interesting_parent_ids":["GO:0008150","GO:0007155"],"is_obsolete":false,"name":"bundle of His cell-Purkinje myocyte adhesion involved in cell communication","termid":"GO:0086073"}


id: GO:0106058
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that activates or increases the frequency, rate or extent of calcineurin-mediated signaling.","definition_xrefs":["PMID:25081204"],"direct_ancestors":[{"relation_name":"is_a","term_name":"positive regulation of calcium-mediated signaling","termid":"GO:0050850"},{"relation_name":"is_a","term_name":"regulation of calcineurin-mediated signaling","termid":"GO:0106056"},{"relation_name":"positively_regulates","term_name":"calcineurin-mediated signaling","termid":"GO:0097720"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"regulates","termid":"GO:0023052"},{"rel_name":"positively_regulates","termid":"GO:0023052"}],"interesting_parent_ids":["GO:0008150","GO:0023052"],"is_obsolete":false,"name":"positive regulation of calcineurin-mediated signaling","termid":"GO:0106058"}


id: MONDO:0009395
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.","definition_xrefs":["Orphanet:3416"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"obsolete primary bone dysplasia with increased bone density (obsolete MONDO:0019703)","termid":"MONDO:0019703"},{"relation_name":"is_a","term_name":"hyperostosis","termid":"MONDO:0002185"},{"relation_name":"is_a","term_name":"skeletal dysplasia","termid":"MONDO:0018230"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"hyperostosis corticalis generalisata","secondary_identifiers":["MEDGEN:98484","icd11.foundation:241514592","OMIM:239100","UMLS:C0432272","NCIT:C131812","SCTID:59763006","DOID:0080036","GARD:2833"],"synonyms":[{"name":"SOST-related sclerosing bone dysplasia","type":"related"},{"name":"VAN Buchem disease","type":"related"},{"name":"VBCH","type":"related"},{"name":"Van Buchem disease","type":"exact"},{"name":"endosteal hyperostosis","type":"exact"},{"name":"endosteal hyperostosis autosomal recessive","type":"related"},{"name":"endosteal hyperostosis, autosomal recessive","type":"related"},{"name":"hyperostosis corticalis generalisata","type":"exact"},{"name":"hyperphosphatasemia tarda","type":"exact"},{"name":"van Buchem disease","type":"exact"},{"name":"van Buchem disease type 1","type":"exact"}],"termid":"MONDO:0009395","xrefs":{"Monarch":{"xref_id":"0009395"}}}


id: GO:0072562
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"A phospholipid microvesicle that is derived from any of several cell types, such as platelets, blood cells, endothelial cells, or others, and contains membrane receptors as well as other proteins characteristic of the parental cell. Microparticles are heterogeneous in size, and are characterized as microvesicles free of nucleic acids.","definition_xrefs":["PMID:16373184","GOC:BHF","GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cellular anatomical structure","termid":"GO:0110165"},{"relation_name":"part_of","term_name":"extracellular space","termid":"GO:0005615"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005575"},{"rel_name":"part_of","termid":"GO:0005576"}],"interesting_parent_ids":["GO:0005576","GO:0005575"],"is_obsolete":false,"name":"blood microparticle","synonyms":[{"name":"cell membrane microparticle","type":"exact"}],"termid":"GO:0072562"}


id: FYPO:0005809
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 cells form astral microtubules that are shorter than normal.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"short cytoplasmic microtubules","termid":"FYPO:0002760"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"output_of","termid":"FYPO:0005447"},{"rel_name":"output_of","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"output_of","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0002399"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"output_of","termid":"FYPO:0000054"}],"interesting_parent_ids":["FYPO:0000054","FYPO:0002399","FYPO:0005447","FYPO:0001320","FYPO:0001985","FYPO:0000002"],"is_obsolete":false,"name":"short astral microtubules","synonyms":[{"name":"short astral microtubules during mitotic cell cycle","type":"related"},{"name":"short astral microtubules during vegetative growth","type":"exact"},{"name":"short cytoplasmic astral microtubules","type":"exact"}],"termid":"FYPO:0005809"}


id: PBO:0028589
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-intermittent_monopolar_cell_growth","termid":"PBO:0028589"}


id: MONDO:0019631
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A developmental ocular anomaly in which the primary vitreous body and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by cataract; microphthalmos (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.)","definition_xrefs":["MESH:D054514"],"direct_ancestors":[{"relation_name":"is_a","term_name":"vitreous disorder","termid":"MONDO:0004860"},{"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:0002320"},{"rel_name":"is_a","termid":"MONDO:0005328"}],"interesting_parent_ids":["MONDO:0002320","MONDO:0005328"],"is_obsolete":false,"name":"persistent hyperplastic primary vitreous","secondary_identifiers":["DOID:0060282","MEDGEN:120583","SCTID:314270008","icd11.foundation:1011137326","Orphanet:91495","GARD:16803","NCIT:C161554","OMIMPS:221900","UMLS:C0266568"],"synonyms":[{"name":"PFVS","type":"exact"},{"name":"PHPV","type":"exact"},{"name":"congenital retinal detachment","type":"exact"},{"name":"ncRNA disease","type":"exact"},{"name":"non-syndromic congenital retinal non-attachment","type":"exact"},{"name":"persistent fetal vasculature syndrome","type":"exact"},{"name":"persistent foetal vasculature syndrome","type":"exact"}],"termid":"MONDO:0019631","xrefs":{"Monarch":{"xref_id":"0019631"}}}


id: MONDO:0019872
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers.","definition_xrefs":["Orphanet:96071"],"direct_ancestors":[{"relation_name":"is_a","term_name":"partial duplication of the short arm of chromosome 3","termid":"MONDO:0016940"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"distal trisomy 3p","secondary_identifiers":["GARD:19305","MEDGEN:1637379","SCTID:764519007","UMLS:C4706938"],"synonyms":[{"name":"distal duplication 3p","type":"exact"},{"name":"distal trisomy type 3p","type":"exact"},{"name":"telomeric duplication 3p","type":"exact"},{"name":"trisomy 3pter","type":"exact"}],"termid":"MONDO:0019872","xrefs":{"Monarch":{"xref_id":"0019872"}}}


id: PBO:0060709
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"NADH:ubiquinone oxidoreductase subunit A5 pseudogene 6","termid":"PBO:0060709"}


id: PBO:0065100
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"PRKAR1B antisense RNA 1","termid":"PBO:0065100"}


id: PBO:0027982
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-normal_protein_import_into_nucleus","termid":"PBO:0027982"}


id: MONDO:0019024
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001)","definition_xrefs":["NCIT:C9348"],"direct_ancestors":[{"relation_name":"is_a","term_name":"immune system cancer","termid":"MONDO:0000621"},{"relation_name":"is_a","term_name":"sarcoma","termid":"MONDO:0005089"},{"relation_name":"is_a","term_name":"mastocytosis","termid":"MONDO:0007950"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0004992"},{"rel_name":"is_a","termid":"MONDO:0005046"},{"rel_name":"is_a","termid":"MONDO:0005570"}],"interesting_parent_ids":["MONDO:0005046","MONDO:0005570","MONDO:0004992"],"is_obsolete":false,"name":"mast cell sarcoma","secondary_identifiers":["icd11.foundation:1993363632","ONCOTREE:MCSL","DOID:355","MEDGEN:11322","SCTID:118615008","EFO:1000364","ICD9:202.6","UMLS:C0036221","GARD:18870","icd11.foundation:233404891","Orphanet:66661","MESH:D012515","ICDO:9740/3"],"synonyms":[{"name":"MCS","type":"exact"},{"name":"MCSL","type":"related"},{"name":"mast cell sarcoma","type":"exact"},{"name":"mast-cell sarcoma","type":"exact"},{"name":"sarcoma of mast cell","type":"exact"}],"termid":"MONDO:0019024","xrefs":{"Monarch":{"xref_id":"0019024"}}}


id: GO:0086028
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that mediates the transfer of information from a bundle of His cardiomyocyte to a Purkinje myocyte.","definition_xrefs":["GOC:BHF","GOC:mtg_cardiac_conduct_nov11"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cell-cell signaling involved in cardiac conduction","termid":"GO:0086019"},{"relation_name":"is_a","term_name":"bundle of His cell to Purkinje myocyte communication","termid":"GO:0086069"}],"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:0023052","GO:0008150"],"is_obsolete":false,"name":"bundle of His cell to Purkinje myocyte signaling","synonyms":[{"name":"bundle of His cardiac muscle cell to Purkinje myocyte signaling","type":"exact"},{"name":"bundle of His cardiac muscle cell to Purkinje myocyte signalling","type":"exact"}],"termid":"GO:0086028"}


id: PBO:0005452
data:
  {"annotation_feature_type":"gene","cv_name":"EC numbers","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"4.1.1.21","termid":"PBO:0005452"}


id: GO:0033529
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the formation of raffinose, the trisaccharide beta-D-fructofuranosyl alpha-D-galactopyranosyl-(1->6)-alpha-D-glucopyranoside.","definition_xrefs":["GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"raffinose family oligosaccharide biosynthetic process","termid":"GO:0010325"},{"relation_name":"is_a","term_name":"raffinose metabolic process","termid":"GO:0033530"}],"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:0008150","GO:0005975"],"is_obsolete":false,"name":"raffinose biosynthetic process","synonyms":[{"name":"raffinose anabolism","type":"exact"},{"name":"raffinose biosynthesis","type":"exact"},{"name":"raffinose formation","type":"exact"},{"name":"raffinose synthesis","type":"exact"}],"termid":"GO:0033529"}


id: PBO:0027667
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-increased_chromatin_silencing","termid":"PBO:0027667"}


id: MONDO:0016534
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"primary hypophysitis","termid":"MONDO:0019835"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005046"}],"interesting_parent_ids":["MONDO:0005046"],"is_obsolete":false,"name":"infundibulo-neurohypophysitis","secondary_identifiers":["MEDGEN:1683829","UMLS:C5190834","Orphanet:238305","GARD:20632"],"termid":"MONDO:0016534","xrefs":{"Monarch":{"xref_id":"0016534"}}}


id: PBO:0030067
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-decreased_cell_population_growth_on_gluconate_carbon_source","termid":"PBO:0030067"}


id: PBO:0081163
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"zinc finger translocation associated","termid":"PBO:0081163"}


id: MONDO:1010677
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Microtia that occurs in sheep.","definition_xrefs":["MONDO:patterns/nonhuman_disease"],"direct_ancestors":[{"relation_name":"is_a","term_name":"microtia, non-human animal","termid":"MONDO:1010091"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microtia, sheep","secondary_identifiers":["OMIA:001952-9940"],"termid":"MONDO:1010677","xrefs":{"Monarch":{"xref_id":"1010677"}}}


id: MONDO:0008296
data:
  {"annotated_genes":["SJAG_04109"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[86079],"is_not":false,"summary":null,"term":"MONDO:0008296"}]},"cv_name":"mondo","definition":"An instance of porphyria cutanea tarda that is caused by an inherited modification of the individual's genome.","definition_xrefs":["MONDO:patterns/hereditary"],"direct_ancestors":[{"relation_name":"is_a","term_name":"porphyria cutanea tarda","termid":"MONDO:0015104"},{"relation_name":"is_a","term_name":"UROD-related inherited porphyria","termid":"MONDO:0100498"}],"gene_count":1,"genes_by_uniquename":{"SJAG_04109":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0019142"},{"rel_name":"is_a","termid":"MONDO:0002515"},{"rel_name":"is_a","termid":"MONDO:0005066"},{"rel_name":"is_a","termid":"MONDO:0005093"},{"rel_name":"is_a","termid":"MONDO:0004335"}],"interesting_parent_ids":["MONDO:0005066","MONDO:0002515","MONDO:0005093","MONDO:0004335","MONDO:0019142"],"is_obsolete":false,"name":"familial porphyria cutanea tarda","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["EFO:0009043","MEDGEN:75669","icd11.foundation:1318287619","OMIM:176100","GARD:17750","Orphanet:443062","SCTID:59229005","UMLS:C0268323"],"synonyms":[{"name":"PCT","type":"related"},{"name":"PCT, 'familial' type","type":"related"},{"name":"PCT, type 2","type":"related"},{"name":"Urod deficiency","type":"related"},{"name":"hereditary porphyria cutanea tarda","type":"exact"},{"name":"porphyria cutanea tarda","type":"related"},{"name":"porphyria cutanea tarda type II","type":"exact"},{"name":"porphyria cutanea tarda, susceptibility to","type":"exact"},{"name":"porphyria cutanea tarda, type 2","type":"related"},{"name":"porphyria, Hepatocutaneous type","type":"related"},{"name":"porphyria, hepatoerythropoietic","type":"related"},{"name":"uroporphyrinogen decarboxylase deficiency","type":"related"}],"termid":"MONDO:0008296","terms_by_termid":{"MONDO:0008296":null},"xrefs":{"Monarch":{"xref_id":"0008296"}}}


id: GO:1904855
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Binding to a proteasome regulatory particle.","definition_xrefs":["PMID:16096059","GOC:TermGenie"],"direct_ancestors":[{"relation_name":"is_a","term_name":"protein-containing complex binding","termid":"GO:0044877"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0005488"}],"interesting_parent_ids":["GO:0003674","GO:0005488"],"is_obsolete":false,"name":"proteasome regulatory particle binding","synonyms":[{"name":"19S regulatory particle binding","type":"narrow"},{"name":"PA700 proteasome activator binding","type":"narrow"},{"name":"PA700-dependent proteasome activator binding","type":"exact"},{"name":"modulator complex binding","type":"related"}],"termid":"GO:1904855"}


id: PBO:0091758
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"vacuolar copper exporter Ctr6","termid":"PBO:0091758"}


id: PBO:0119737
data:
  {"annotation_feature_type":"gene","cv_name":"name_description","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"palmitoyl hydrolase inactive","termid":"PBO:0119737"}


id: MONDO:0006658
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"The thickening of the wall of the small arteries and arterioles. It is caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy. It results in lumen narrowing and tissue ischemia.","definition_xrefs":["NCIT:P378"],"direct_ancestors":[{"relation_name":"is_a","term_name":"coronary atherosclerosis","termid":"MONDO:0021661"}],"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":"arteriolosclerosis","secondary_identifiers":["UMLS:C0878486","DOID:5162","NCIT:C35543","MESH:D050379","ICD10CM:I70","MEDGEN:209223","EFO:1000819"],"synonyms":[{"name":"arteriolosclerosis (morphologic abnormality)","type":"exact"}],"termid":"MONDO:0006658","xrefs":{"Monarch":{"xref_id":"0006658"}}}


id: MONDO:0015615
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete rare genetic gastroenterological disease (obsolete MONDO:0015615)","secondary_identifiers":["Orphanet:165652"],"synonyms":[{"name":"rare genetic gastrointestinal system disease","type":"exact"}],"termid":"MONDO:0015615","xrefs":{"Monarch":{"xref_id":"0015615"}}}


id: PBO:0048662
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"glycerol kinase 4 pseudogene","termid":"PBO:0048662"}


id: PBO:0073125
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"SEC11 homolog C, signal peptidase complex subunit","termid":"PBO:0073125"}


id: MONDO:0004282
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete eccrine porocarcinoma (obsolete MONDO:0004282)","termid":"MONDO:0004282","xrefs":{"Monarch":{"xref_id":"0004282"}}}


id: MONDO:0009155
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"EEM syndrome is characterized by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).","definition_xrefs":["Orphanet:1897"],"direct_ancestors":[{"relation_name":"is_a","term_name":"congenital nervous system disorder","termid":"MONDO:0002320"},{"relation_name":"is_a","term_name":"dysostosis","termid":"MONDO:0018234"},{"relation_name":"is_a","term_name":"congenital limb malformation","termid":"MONDO:0019054"},{"relation_name":"is_a","term_name":"ectodermal dysplasia syndrome","termid":"MONDO:0019287"},{"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"},{"rel_name":"is_a","termid":"MONDO:0005497"},{"rel_name":"is_a","termid":"MONDO:0005093"},{"rel_name":"is_a","termid":"MONDO:0002320"}],"interesting_parent_ids":["MONDO:0005497","MONDO:0005328","MONDO:0002320","MONDO:0005093"],"is_obsolete":false,"name":"EEM syndrome","secondary_identifiers":["OMIM:225280","DOID:0111649","GARD:2078","MESH:C536190","SCTID:720856002","UMLS:C1857041","MEDGEN:341679"],"synonyms":[{"name":"EEM syndrome","type":"exact"},{"name":"EEMS","type":"related"},{"name":"ectodermal dysplasia, ectrodactyly, and macular dystrophy","type":"related"},{"name":"ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome","type":"related"},{"name":"ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome","type":"exact"}],"termid":"MONDO:0009155","xrefs":{"Monarch":{"xref_id":"0009155"}}}


id: PBO:0041985
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"CCDC28A antisense RNA 1","termid":"PBO:0041985"}


id: PBO:0071532
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein L34 pseudogene 35","termid":"PBO:0071532"}


id: MONDO:0017965
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete syndrome with 46,XX disorder of sex development (obsolete MONDO:0017965)","secondary_identifiers":["Orphanet:325109"],"synonyms":[{"name":"syndrome with 46,XX DSD","type":"exact"}],"termid":"MONDO:0017965","xrefs":{"Monarch":{"xref_id":"0017965"}}}


id: PBO:0049298
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"glutathione S-transferase mu 2","termid":"PBO:0049298"}


id: PBO:0068748
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U5E small nuclear 3, pseudogene","termid":"PBO:0068748"}


id: FYPO:0005327
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 repair of cyclobutane pyrimidine dimers by error-free translesion synthesis does not occur.","definition_xrefs":["PMID:20453833","PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal error-free translesion synthesis","termid":"FYPO:0005323"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000293"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0000298"},{"rel_name":"is_a","termid":"FYPO:0000002"}],"interesting_parent_ids":["FYPO:0001320","FYPO:0000298","FYPO:0000002","FYPO:0000293","FYPO:0001985","FYPO:0005447"],"is_obsolete":false,"name":"abolished error-free translesion synthesis of cyclobutane pyrimidine dimers","synonyms":[{"name":"abolished error-free translesion synthesis across TT-CPD","type":"exact"},{"name":"abolished error-free translesion synthesis of cyclobutane pyrimidine dimers during mitotic cell cycle","type":"related"},{"name":"abolished error-free translesion synthesis of cyclobutane pyrimidine dimers during vegetative growth","type":"exact"},{"name":"error-free translesion synthesis of cyclobutane pyrimidine dimers abolished","type":"related"}],"termid":"FYPO:0005327"}


id: PBO:0091067
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"2-oxoglutarate- and Fe(II)-dependent oxygenase Jmj1","termid":"PBO:0091067"}


id: PR:O13932
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A BET1 homolog that is encoded in the genome of Schizosaccharomyces pombe 972h-.","definition_xrefs":["PRO:DNx","OMA:SCHPO00418"],"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":"protein transport protein bet1 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAC23C4.13","secondary_identifiers":["UniProtKB:O13932"],"synonyms":[{"name":"Spom972h-BET1","type":"exact"}],"termid":"PR:O13932"}


id: MONDO:0015951
data:
  {"annotated_genes":["SJAG_02334","SJAG_04114","SJAG_02556","SJAG_01887","SJAG_04109","SJAG_01049","SJAG_02876","SJAG_05283","SJAG_03206","SJAG_04995","SJAG_04540","SJAG_03898","SJAG_01841","SJAG_03961","SJAG_01372","SJAG_02031","SJAG_02896","SJAG_02200","SJAG_04791","SJAG_05329","SJAG_00995","SJAG_04944"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[85679],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0008294"},{"annotations":[87349],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0008876"},{"annotations":[85824],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0009902"},{"annotations":[86079],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0008296"},{"annotations":[85778],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0030048"},{"annotations":[86230],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0007369"},{"annotations":[85825],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0013000"},{"annotations":[85517],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0008319"},{"annotations":[87191],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0016368"},{"annotations":[85427,85428],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0016369"},{"annotations":[87125],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0010909"},{"annotations":[86650],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0013829"},{"annotations":[86098],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0008297"},{"annotations":[86743],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0957577"},{"annotations":[87081],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0010420"},{"annotations":[87010],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0010210"},{"annotations":[86219],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0012531"},{"annotations":[87031,87030],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0010211"},{"annotations":[87039],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0010212"},{"annotations":[86998],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0010215"},{"annotations":[86949],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0010216"},{"annotations":[86986],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0010214"}]},"cv_name":"mondo","definition":"Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies.","direct_ancestors":[{"relation_name":"is_a","term_name":"hereditary skin disorder","termid":"MONDO:0100118"}],"gene_count":22,"genes_by_uniquename":{"SJAG_00995":null,"SJAG_01049":null,"SJAG_01372":null,"SJAG_01841":null,"SJAG_01887":null,"SJAG_02031":null,"SJAG_02200":null,"SJAG_02334":null,"SJAG_02556":null,"SJAG_02876":null,"SJAG_02896":null,"SJAG_03206":null,"SJAG_03898":null,"SJAG_03961":null,"SJAG_04109":null,"SJAG_04114":null,"SJAG_04540":null,"SJAG_04791":null,"SJAG_04944":null,"SJAG_04995":null,"SJAG_05283":null,"SJAG_05329":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005093"}],"interesting_parent_ids":["MONDO:0005093"],"is_obsolete":false,"name":"hereditary photodermatosis","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["UMLS:C5679594","Orphanet:183490","GARD:20277","MEDGEN:1842494"],"synonyms":[{"name":"genetic photosensitivity","type":"exact"},{"name":"genetic skin photosensitivity","type":"exact"},{"name":"photogenodermatosis","type":"broad"},{"name":"photogénodermatose","type":"broad"}],"termid":"MONDO:0015951","terms_by_termid":{"MONDO:0007369":null,"MONDO:0008294":null,"MONDO:0008296":null,"MONDO:0008297":null,"MONDO:0008319":null,"MONDO:0008876":null,"MONDO:0009902":null,"MONDO:0010210":null,"MONDO:0010211":null,"MONDO:0010212":null,"MONDO:0010214":null,"MONDO:0010215":null,"MONDO:0010216":null,"MONDO:0010420":null,"MONDO:0010909":null,"MONDO:0012531":null,"MONDO:0013000":null,"MONDO:0013829":null,"MONDO:0016368":null,"MONDO:0016369":null,"MONDO:0030048":null,"MONDO:0957577":null},"xrefs":{"Monarch":{"xref_id":"0015951"}}}


id: PBO:0028119
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-abolished_protein_localization_to_lateral_cortical_node,_with_protein_distributed_in_plasma_membrane_or_cortex","termid":"PBO:0028119"}


id: PBO:0085924
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Protein of unknown function; member of the seripauperin multigene family encoded mainly in subtelomeric regions; SWAT-GFP and mCherry fusion proteins localize to the vacuole; expression induced by low temperature and also by anaerobic conditions; induced during alcoholic fermentation","termid":"PBO:0085924"}


id: PBO:0057231
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 410","termid":"PBO:0057231"}


id: GO:1990581
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. The rupture of the lysosomal membrane and loss of contents as a result of osmotic change, G-protein-driven disintegration, or unspecified cause.","definition_xrefs":["PMID:9538255","PMID:24472"],"gene_count":0,"genotype_count":0,"name":"obsolete lysosome lysis (obsolete GO:1990581)","synonyms":[{"name":"lysosomal lysis","type":"exact"},{"name":"lysosome lysis","type":"exact"}],"termid":"GO:1990581"}


id: GO:0002262
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process of regulating the proliferation and elimination of myeloid cells such that the total number of myeloid cells within a whole or part of an organism is stable over time in the absence of an outside stimulus.","definition_xrefs":["CL:0000763","GOC:add"],"direct_ancestors":[{"relation_name":"is_a","term_name":"immune system process","termid":"GO:0002376"},{"relation_name":"is_a","term_name":"homeostasis of number of cells","termid":"GO:0048872"}],"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":"myeloid cell homeostasis","termid":"GO:0002262"}


id: GO:0009567
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Fertilization where one of the two sperm nuclei from the pollen tube fuses with the egg nucleus to form a 2n zygote, and the other fuses with the two polar nuclei to form the 3n primary endosperm nucleus and then develops into the endosperm. The ploidy level of the 2n zygote and 3n primary endosperm nucleus is determined by the ploidy level of the parents involved. An example of this component is found in Arabidopsis thaliana.","definition_xrefs":["GOC:tb","GOC:mtg_sensu"],"direct_ancestors":[{"relation_name":"is_a","term_name":"fertilization","termid":"GO:0009566"}],"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":"double fertilization forming a zygote and endosperm","synonyms":[{"name":"double fertilization","type":"exact"}],"termid":"GO:0009567"}


id: SO:0001232
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"A modified RNA base in which thymine is bound to the ribose ring.","definition_xrefs":["RSC:cb"],"direct_ancestors":[{"relation_name":"is_a","term_name":"modified_RNA_base_feature","termid":"SO:0000250"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribothymidine","termid":"SO:0001232"}


id: MONDO:0007575
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete erythrokeratodermia variabilis (obsolete MONDO:0007575)","termid":"MONDO:0007575","xrefs":{"Monarch":{"xref_id":"0007575"}}}


id: GO:0042766
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. The movement of nucleosomes along a DNA fragment.","definition_xrefs":["PMID:12006495"],"gene_count":0,"genotype_count":0,"name":"obsolete nucleosome mobilization (obsolete GO:0042766)","synonyms":[{"name":"nucleosome sliding","type":"exact"}],"termid":"GO:0042766"}


id: PR:000027733
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A myosin type-2 heavy chain 1 phosphorylated 1 in Schizosaccharomyces pombe. Example: UniProtKB:Q9USI6-1, Ser-1444, MOD:00046.","definition_xrefs":["PMID:15184401","PomBase:MAH"],"direct_ancestors":[{"relation_name":"is_a","term_name":"myosin type-2 heavy chain 1","termid":"PR:000027728"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"myosin type-2 heavy chain 1 phosphorylated 1 (Schizosaccharomyces pombe)","pombase_gene_id":"SPCC645.05c","synonyms":[{"name":"Spom-myo2/Phos:1","type":"exact"}],"termid":"PR:000027733"}


id: GO:0016581
data:
  {"annotated_genes":["SJAG_03982","SJAG_00934","SJAG_03844","SJAG_02778"],"annotation_feature_type":"gene","cv_annotations":{"cellular_component":[{"annotations":[108536,112493,113678,72037],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0070824"}]},"cv_name":"cellular_component","definition":"An approximately 2 MDa multi-subunit complex that exhibits ATP-dependent chromatin remodeling activity in addition to histone deacetylase (HDAC) activity, and has been shown to establish transcriptional repression of a number of target genes in vertebrates, invertebrates and fungi. Amongst its subunits, the NuRD complex contains histone deacetylases, histone binding proteins and Mi-2-like proteins.","definition_xrefs":["PMID:17289569","PMID:10589671","PMID:11743021"],"direct_ancestors":[{"relation_name":"is_a","term_name":"histone deacetylase complex","termid":"GO:0000118"},{"relation_name":"is_a","term_name":"transcription regulator complex","termid":"GO:0005667"},{"relation_name":"is_a","term_name":"CHD-type complex","termid":"GO:0090545"}],"gene_count":4,"genes_by_uniquename":{"SJAG_00934":null,"SJAG_02778":null,"SJAG_03844":null,"SJAG_03982":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"part_of","termid":"GO:0005654"},{"rel_name":"is_a","termid":"GO:0032991"},{"rel_name":"part_of","termid":"GO:0005694"},{"rel_name":"part_of","termid":"GO:0005634"},{"rel_name":"is_a","termid":"GO:0005575"}],"interesting_parent_ids":["GO:0005694","GO:0032991","GO:0005575","GO:0005634","GO:0005654"],"is_obsolete":false,"name":"NuRD complex","references_by_uniquename":{"GO_REF:0000033":null,"GO_REF:0000107":null},"synonyms":[{"name":"Mi-2 complex","type":"narrow"},{"name":"NRD complex","type":"exact"},{"name":"nucleosome remodeling and histone deacetylation complex","type":"exact"}],"termid":"GO:0016581","terms_by_termid":{"GO:0070824":null}}


id: GO:0010578
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. Any process that modulates the frequency, rate or extent of adenylate cyclase (AC) activity that is an integral part of a G protein-coupled receptor signaling pathway.","definition_xrefs":["GOC:tb","GOC:dph","GOC:signaling"],"gene_count":0,"genotype_count":0,"name":"obsolete regulation of adenylate cyclase activity involved in G protein-coupled receptor signaling pathway (obsolete GO:0010578)","synonyms":[{"name":"regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway","type":"exact"},{"name":"regulation of adenylate cyclase activity involved in G-protein signaling pathway","type":"exact"},{"name":"regulation of adenylate cyclase activity involved in G-protein signalling","type":"exact"}],"termid":"GO:0010578"}


id: MONDO:0008477
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.","definition_xrefs":["Orphanet:93314"],"direct_ancestors":[{"relation_name":"is_a","term_name":"spondylometaphyseal dysplasia","termid":"MONDO:0016763"},{"relation_name":"is_a","term_name":"TRPV4-related bone disorder","termid":"MONDO:0018240"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"spondylometaphyseal dysplasia, Kozlowski type","secondary_identifiers":["UMLS:C0265280","DOID:0111554","icd11.foundation:360868302","MESH:C535797","OMIM:184252","MEDGEN:82698","GARD:3047"],"synonyms":[{"name":"Dysmorphism arthrogryposis skeletal maturation advanced","type":"related"},{"name":"Jequier Kozlowski skeletal dysplasia","type":"related"},{"name":"Jequier-Kozlowski syndrome","type":"related"},{"name":"SMDK","type":"related"},{"name":"SmD Kozlowski type","type":"related"},{"name":"SmD, Kozlowski type","type":"related"},{"name":"skeletal dysplasia Jequier-Kozlowski type","type":"related"},{"name":"spondylometaphyseal dysplasia, Kozlowski type","type":"exact"}],"termid":"MONDO:0008477","xrefs":{"Monarch":{"xref_id":"0008477"}}}


id: PBO:0038471
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ABCA9 antisense RNA 1","termid":"PBO:0038471"}


id: PBO:0075971
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"StAR related lipid transfer domain containing 13","termid":"PBO:0075971"}


id: GO:0061004
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any developmental process that results in the creation of defined areas or spaces within the kidney to which cells respond and eventually are instructed to differentiate.","definition_xrefs":["GOC:mtg_kidney_jan10","GOC:dph"],"direct_ancestors":[{"relation_name":"is_a","term_name":"pattern specification process","termid":"GO:0007389"},{"relation_name":"part_of","term_name":"kidney development","termid":"GO:0001822"},{"relation_name":"part_of","term_name":"renal system pattern specification","termid":"GO:0072048"}],"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":"pattern specification involved in kidney development","synonyms":[{"name":"kidney pattern formation","type":"related"},{"name":"kidney pattern specification","type":"exact"},{"name":"pattern formation involved in kidney development","type":"related"}],"termid":"GO:0061004"}


id: MONDO:0019714
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy (obsolete MONDO:0019714)","secondary_identifiers":["Orphanet:93458"],"synonyms":[{"name":"isolated polydactyly, syndactyly and/or hyperphalangy","type":"related"},{"name":"nonsyndromic polydactyly, syndactyly and/or hyperphalangy","type":"exact"}],"termid":"MONDO:0019714","xrefs":{"Monarch":{"xref_id":"0019714"}}}


id: GO:1903544
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a butyrate stimulus.","definition_xrefs":["PMID:9734870","GOC:TermGenie","GO_REF:0000071","GOC:mr"],"direct_ancestors":[{"relation_name":"is_a","term_name":"response to fatty acid","termid":"GO:0070542"}],"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":"response to butyrate","termid":"GO:1903544"}


id: SO:0001838
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"An insertion the sequence of which cannot be mapped to the reference genome.","definition_xrefs":["NCBI:th"],"direct_ancestors":[{"relation_name":"is_a","term_name":"insertion","termid":"SO:0000667"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"novel_sequence_insertion","synonyms":[{"name":"novel sequence insertion","type":"exact"}],"termid":"SO:0001838"}


id: MONDO:1010015
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Hypertrophic cardiomyopathy that occurs in non-human animals.","definition_xrefs":["MONDO:patterns/nonhuman_disease"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cardiomyopathy, non-human animal","termid":"MONDO:1010010"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"hypertrophic cardiomyopathy, non-human animal","secondary_identifiers":["OMIA:000515"],"termid":"MONDO:1010015","xrefs":{"Monarch":{"xref_id":"1010015"}}}


id: SO:0000081
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","direct_ancestors":[{"relation_name":"is_a","term_name":"gene_attribute","termid":"SO:0000401"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"gene_array_member","synonyms":[{"name":"gene array member","type":"exact"}],"termid":"SO:0000081"}


id: MONDO:0011230
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms.","definition_xrefs":["NCIT:P378"],"direct_ancestors":[{"relation_name":"is_a","term_name":"skeletal system disorder","termid":"MONDO:0005172"},{"relation_name":"is_a","term_name":"hereditary disorder of connective tissue","termid":"MONDO:0023603"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ossification of the posterior longitudinal ligament of the spine","secondary_identifiers":["MESH:C537143","UMLS:C1865343","EFO:0005895","NCIT:C84975","MEDGEN:355447","NANDO:1200371","SCTID:90448008","DOID:0060887","OMIM:602475"],"synonyms":[{"name":"OPLL","type":"exact"},{"name":"ossification of Posterior longitudinal ligament","type":"exact"},{"name":"ossification of the POSTERIOR longitudinal ligament of spine","type":"related"}],"termid":"MONDO:0011230","xrefs":{"Monarch":{"xref_id":"0011230"}}}


id: PBO:0088978
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"kinesin-8 family plus-end directed microtubule motor Klp5","termid":"PBO:0088978"}


id: MONDO:0007971
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development.","definition_xrefs":["Orphanet:3034"],"direct_ancestors":[{"relation_name":"is_a","term_name":"skeletal dysplasia","termid":"MONDO:0018230"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"delayed membranous cranial ossification","secondary_identifiers":["SCTID:715524004","UMLS:C1835030","MESH:C563592","MEDGEN:320502","icd11.foundation:766852360","GARD:1727","OMIM:155980"],"synonyms":[{"name":"Gonzales-del Angel syndrome","type":"exact"},{"name":"membranous cranial ossification, delayed","type":"related"}],"termid":"MONDO:0007971","xrefs":{"Monarch":{"xref_id":"0007971"}}}


id: PBO:0017760
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"spore wall assembly protein Mug56 (predicted)","termid":"PBO:0017760"}


id: PBO:0029293
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-abnormal_protein_localization_to_nucleus_during_meiosis","termid":"PBO:0029293"}


id: PBO:0001873
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"transcription coactivator PC4","termid":"PBO:0001873"}


id: PBO:0087478
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Subunit of Ccr4-Not complex that mediates 3' to 5' mRNA deadenylation; exonuclease of the DEDD superfamily","termid":"PBO:0087478"}


id: PBO:0061866
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"osteomodulin","termid":"PBO:0061866"}


id: PBO:0082178
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ADP-ribosylation factor GTPase activating protein (ARF GAP); involved in ER-Golgi transport; required for prospore membrane formation; regulates phospholipase Spo14p; shares functional similarity with Glo3p; GCS1 has a paralog, SPS18, that arose from the whole genome duplication","termid":"PBO:0082178"}


id: PBO:0076997
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"THAP domain containing 11","termid":"PBO:0076997"}


id: GO:0032097
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that activates, maintains, or increases the rate of a response to a food stimulus.","definition_xrefs":["GOC:add"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of response to food","termid":"GO:0032095"},{"relation_name":"is_a","term_name":"positive regulation of response to nutrient levels","termid":"GO:0032109"},{"relation_name":"positively_regulates","term_name":"response to food","termid":"GO:0032094"}],"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 response to food","synonyms":[{"name":"activation of response to food","type":"narrow"},{"name":"stimulation of response to food","type":"narrow"},{"name":"up regulation of response to food","type":"exact"},{"name":"up-regulation of response to food","type":"exact"},{"name":"upregulation of response to food","type":"exact"}],"termid":"GO:0032097"}


id: FYECO:0000237
data:
  {"annotation_feature_type":"gene","cv_name":"fission_yeast_phenotype_condition","definition":"Cells were grown for more than 48 hours.","definition_xrefs":["PomBase:al"],"direct_ancestors":[{"relation_name":"is_a","term_name":"grouping growth timing","termid":"FYECO:0000122"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"growth >48 hrs","synonyms":[{"name":"growth >48 hours","type":"exact"}],"termid":"FYECO:0000237"}


id: GO:0010694
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that increases the frequency, rate or extent of alkaline phosphatase activity, the catalysis of the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum.","definition_xrefs":["GOC:tb","GOC:dph"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of alkaline phosphatase activity","termid":"GO:0010692"},{"relation_name":"is_a","term_name":"positive regulation of phosphatase activity","termid":"GO:0010922"}],"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 alkaline phosphatase activity","termid":"GO:0010694"}


id: PBO:0083865
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"F-BAR protein that regulates actin cytoskeleton organization; binds and bundles actin filaments, linking them to septins; required for cytokinesis, actin cable organization, and secretory vesicle trafficking; regulates actomyosin ring dynamics and septin localization; N-term. half controls cell size and actin cable levels, while the C-term. half controls actin cable organization, inhibiting Bnr1p-mediated actin nucleation; forms axial striations/pillars at the bud neck; phosphorylated by Dbf2p","termid":"PBO:0083865"}


id: PBO:0091011
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"NADH-dependent flavin oxidoreductase, implicated in cellular detoxification from family members","termid":"PBO:0091011"}


id: FYPO:0002740
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cellular process phenotype in which a cell proceeds normally through a specific mitotic cell cycle phase. A mitotic cell cycle phase is any of the distinct periods or stages into which the mitotic cell cycle is divided. Each phase is characterized by the occurrence of specific biochemical and morphological events.","definition_xrefs":["GO:0022403","PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"normal mitotic cell cycle","termid":"FYPO:0000411"},{"relation_name":"is_a","term_name":"normal cell cycle phase","termid":"FYPO:0003833"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"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:0000002"}],"interesting_parent_ids":["FYPO:0001312","FYPO:0000002","FYPO:0000257","FYPO:0001320"],"is_obsolete":false,"name":"normal mitotic cell cycle phase","termid":"FYPO:0002740"}


id: MONDO:0013666
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"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:0005328"},{"rel_name":"is_a","termid":"MONDO:0005497"}],"interesting_parent_ids":["MONDO:0005328","MONDO:0005497"],"is_obsolete":false,"name":"Stickler syndrome, type 5","secondary_identifiers":["GARD:18359","MEDGEN:481972","UMLS:C3280342","OMIM:614284"],"synonyms":[{"name":"COL9A2 autosomal recessive Stickler syndrome","type":"exact"},{"name":"STICKLER syndrome, type V","type":"related"},{"name":"STL5","type":"related"},{"name":"autosomal recessive Stickler syndrome caused by mutation in COL9A2","type":"exact"}],"termid":"MONDO:0013666","xrefs":{"Monarch":{"xref_id":"0013666"}}}


id: PBO:0086387
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Putative carboxymethylenebutenolidase; the authentic, non-tagged protein is detected in highly purified mitochondria in high-throughput studies; YDL086W is not an essential gene","termid":"PBO:0086387"}


id: GO:0010017
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The series of molecular signals initiated upon sensing by photoreceptor molecules of red light or far red light. Red light is electromagnetic radiation of wavelength of 580-700nm. Far red light is electromagnetic radiation of wavelength 700-800nm. An example of this response is seen at the beginning of many plant species developmental stages. These include germination, and the point when cotyledon expansion is triggered. In certain species these processes take place in response to absorption of red light by the pigment molecule phytochrome, but the signal can be reversed by exposure to far red light. During the initial phase the phytochrome molecule is only present in the red light absorbing form, but on absorption of red light it changes to a far red light absorbing form, triggering progress through development. An immediate short period of exposure to far red light entirely returns the pigment to its initial state and prevents triggering of the developmental process. A thirty minute break between red and subsequent far red light exposure renders the red light effect irreversible, and development then occurs regardless of whether far red light exposure subsequently occurs.","definition_xrefs":["GOC:mtg_far_red","GOC:lr","GOC:sm"],"direct_ancestors":[{"relation_name":"is_a","term_name":"signal transduction","termid":"GO:0007165"},{"relation_name":"is_a","term_name":"cellular response to red or far red light","termid":"GO:0071489"}],"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":"red or far-red light signaling pathway","synonyms":[{"name":"phytochrome signaling pathway","type":"broad"},{"name":"red or far red light signaling pathway","type":"exact"},{"name":"red or far-red light signal transduction","type":"exact"},{"name":"red or far-red light signalling pathway","type":"exact"},{"name":"red/far red light signaling pathway","type":"exact"}],"termid":"GO:0010017"}


id: SO:0002194
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"The pseudogene has arisen from a copy of the parent gene by duplication followed by accumulation of random mutation. The changes, compared to their functional homolog, include insertions, deletions, premature stop codons, frameshifts and a higher proportion of non-synonymous versus synonymous substitutions.","direct_ancestors":[{"relation_name":"is_a","term_name":"pseudogenic_rRNA","termid":"SO:0000777"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"unprocessed_pseudogenic_rRNA","synonyms":[{"name":"INSDC_feature:rRNA","type":"broad"},{"name":"INSDC_qualifier:unprocessed","type":"exact"},{"name":"unprocessed pseudogenic rRNA","type":"exact"}],"termid":"SO:0002194"}


id: GO:0045481
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: 6-endo-hydroxycineole + NAD+ = 6-oxocineole + H+ + NADH.","definition_xrefs":["EC:1.1.1.241","RHEA:11736"],"direct_ancestors":[{"relation_name":"is_a","term_name":"oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor","termid":"GO:0016616"}],"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:0016491","GO:0003674","GO:0003824"],"is_obsolete":false,"name":"6-endo-hydroxycineole dehydrogenase activity","secondary_identifiers":["MetaCyc:6-ENDO-HYDROXYCINEOLE-DEHYDROGENASE-RXN","KEGG_REACTION:R02994"],"synonyms":[{"name":"6-endo-hydroxycineole:NAD+ 6-oxidoreductase activity","type":"related"}],"termid":"GO:0045481"}


id: GO:0017008
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The linkage of the chromophore phycobiliviolin to phycoerythrocyanin.","definition_xrefs":["RESID:AA0258"],"direct_ancestors":[{"relation_name":"is_a","term_name":"protein-bilin linkage","termid":"GO:0017007"}],"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":"protein-phycobiliviolin linkage","termid":"GO:0017008"}


id: PBO:0011409
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-has_output_o_axis_of","termid":"PBO:0011409"}


id: GO:0036225
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of deprivation of vitamin B1 (also called thiamin and thiamine).","definition_xrefs":["GOC:al","Wikipedia:Thiamine"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cellular response to starvation","termid":"GO:0009267"}],"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":"cellular response to vitamin B1 starvation","synonyms":[{"name":"cellular response to thiamin starvation","type":"exact"},{"name":"cellular response to vitamin B1 deprivation","type":"exact"}],"termid":"GO:0036225"}


id: PBO:0074330
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"SMARCA5 antisense RNA 1","termid":"PBO:0074330"}


id: PBO:0057314
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 518a-2","termid":"PBO:0057314"}


id: GO:0004755
data:
  {"annotated_genes":["SJAG_01061"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[110079],"is_not":false,"summary":null,"term":"GO:0004755"}]},"cv_name":"molecular_function","definition":"Catalysis of the reaction: L-saccharopine + H2O + NADP+ = L-allysine + L-glutamate + H+ + NADPH.","definition_xrefs":["EC:1.5.1.10","RHEA:10020"],"direct_ancestors":[{"relation_name":"is_a","term_name":"saccharopine dehydrogenase activity","termid":"GO:0004753"}],"gene_count":1,"genes_by_uniquename":{"SJAG_01061":null},"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:0016491","GO:0003824"],"is_obsolete":false,"name":"saccharopine dehydrogenase (NADP+, L-glutamate-forming) activity","references_by_uniquename":{"GO_REF:0000107":null},"secondary_identifiers":["KEGG_REACTION:R02315","MetaCyc:RXN3O-127"],"synonyms":[{"name":"6-N-(L-1,3-dicarboxypropyl)-L-lysine:NADP+ oxidoreductase (L-glutamate-forming)","type":"related"},{"name":"N6-(L-1,3-dicarboxypropyl)-L-lysine:NADP+ oxidoreductase (L-glutamate-forming)","type":"related"},{"name":"aminoadipate semialdehyde-glutamate reductase activity","type":"related"},{"name":"aminoadipic semialdehyde-glutamate reductase activity","type":"related"},{"name":"aminoadipic semialdehyde-glutamic reductase activity","type":"related"},{"name":"epsilon-N-(L-glutaryl-2)-L-lysine:NAD+(P) oxidoreductase (L-2-aminoadipate-semialdehyde forming)","type":"related"},{"name":"saccharopine (nicotinamide adenine dinucleotide phosphate, glutamate-forming) dehydrogenase activity","type":"related"},{"name":"saccharopine reductase activity","type":"related"}],"termid":"GO:0004755","terms_by_termid":{"GO:0004755":null}}


id: FYPO:0001686
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A phenotype in which vegetative cell population growth is normal (i.e. indistinguishable from wild type) in a medium containing the tubulin poison carbendazim (mecarzole; MBC).","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"normal vegetative cell population growth","termid":"FYPO:0001357"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000257"},{"rel_name":"is_a","termid":"FYPO:0000003"},{"rel_name":"is_a","termid":"FYPO:0002057"},{"rel_name":"is_a","termid":"FYPO:0002058"},{"rel_name":"is_a","termid":"FYPO:0002060"},{"rel_name":"is_a","termid":"FYPO:0000139"}],"interesting_parent_ids":["FYPO:0002060","FYPO:0000257","FYPO:0002057","FYPO:0000003","FYPO:0002058","FYPO:0000139"],"is_obsolete":false,"name":"normal growth on carbendazim","synonyms":[{"name":"normal cell population growth in presence of carbendazim","type":"exact"},{"name":"normal cell population growth on carbendazim","type":"exact"},{"name":"normal cell population growth on mecarzole","type":"exact"},{"name":"normal cellular response to carbendazim","type":"related"},{"name":"normal growth on MBC","type":"exact"},{"name":"normal growth on methyl benzimidazole-2-yl-carbamate","type":"exact"},{"name":"normal growth on methylbenzylcarbamylate","type":"exact"},{"name":"normal vegetative cell population growth on carbendazim","type":"exact"}],"termid":"FYPO:0001686"}


id: GO:0051481
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that decreases the concentration of calcium ions in the cytosol.","definition_xrefs":["GOC:ai"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of biological quality","termid":"GO:0065008"}],"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 cytosolic calcium ion concentration","synonyms":[{"name":"cytoplasmic calcium ion concentration reduction","type":"broad"},{"name":"cytosolic calcium ion concentration reduction","type":"exact"},{"name":"reduction of calcium ion concentration in cytoplasm","type":"broad"},{"name":"reduction of calcium ion concentration in cytosol","type":"exact"},{"name":"reduction of cytoplasmic calcium ion concentration","type":"broad"},{"name":"reduction of cytosolic calcium ion concentration","type":"exact"}],"termid":"GO:0051481"}


id: GO:0044555
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. Any process that stops, prevents or reduces the frequency of heart contraction of another organism.","definition_xrefs":["GOC:ecd","GOC:jl","PMID:20923766"],"gene_count":0,"genotype_count":0,"name":"obsolete negative regulation of heart rate in another organism (obsolete GO:0044555)","synonyms":[{"name":"negative regulation of heart rate in other organism","type":"exact"}],"termid":"GO:0044555"}


id: PBO:0083817
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Essential subunit of RNA polymerase III transcription factor (TFIIIB); TFIIIB is involved in transcription of genes encoding tRNAs, 5S rRNA, U6 snRNA, and other small RNAs","termid":"PBO:0083817"}


id: PBO:0043582
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"collagen type XIV alpha 1 chain","termid":"PBO:0043582"}


id: PBO:0089424
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ER membrane Haemolysin-III family protein involved in zinc homeostasis Izh3","termid":"PBO:0089424"}


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":["UMLS:C1876176","MEDGEN:361812"],"synonyms":[{"name":"AUTS4","type":"exact"}],"termid":"MONDO:0800417","xrefs":{"Monarch":{"xref_id":"0800417"}}}


id: GO:0014858
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that activates or increases the frequency, rate or extent of skeletal muscle cell proliferation.","definition_xrefs":["CL:0000188","GOC:ef","GOC:mtg_muscle"],"direct_ancestors":[{"relation_name":"is_a","term_name":"positive regulation of cell population proliferation","termid":"GO:0008284"},{"relation_name":"is_a","term_name":"regulation of skeletal muscle cell proliferation","termid":"GO:0014857"},{"relation_name":"positively_regulates","term_name":"skeletal muscle cell proliferation","termid":"GO:0014856"}],"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 skeletal muscle cell proliferation","termid":"GO:0014858"}


id: PBO:0109387
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"testis expressed transcript, Y-linked 17B","termid":"PBO:0109387"}


id: GO:0031571
data:
  {"annotated_genes":["SJAG_02026","SJAG_00169"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[91666,110051],"is_not":false,"summary":null,"term":"GO:0031571"}]},"cv_name":"biological_process","definition":"A signal transduction process that contributes to a mitotic cell cycle G1/S transition DNA damage checkpoint.","definition_xrefs":["GOC:mtg_cell_cycle"],"direct_ancestors":[{"relation_name":"is_a","term_name":"mitotic DNA damage checkpoint signaling","termid":"GO:0044773"},{"relation_name":"is_a","term_name":"mitotic G1/S transition checkpoint signaling","termid":"GO:0044819"}],"gene_count":2,"genes_by_uniquename":{"SJAG_00169":null,"SJAG_02026":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"part_of","termid":"GO:0023052"},{"rel_name":"negatively_regulates","termid":"GO:0044772"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"negatively_regulates","termid":"GO:0007049"},{"rel_name":"part_of","termid":"GO:0007049"},{"rel_name":"regulates","termid":"GO:0007049"},{"rel_name":"regulates","termid":"GO:0044772"}],"interesting_parent_ids":["GO:0044772","GO:0008150","GO:0007049","GO:0023052"],"is_obsolete":false,"name":"mitotic G1 DNA damage checkpoint signaling","references_by_uniquename":{"GO_REF:0000107":null},"secondary_identifiers":["GO:0072431","GO:1902400","GO:0044783"],"synonyms":[{"name":"G1 DNA damage checkpoint","type":"related"},{"name":"G1/S DNA damage checkpoint","type":"related"},{"name":"intracellular signal transduction involved in G1 DNA damage checkpoint","type":"exact"},{"name":"intracellular signal transduction involved in G1/S DNA damage checkpoint","type":"exact"},{"name":"intracellular signal transduction pathway involved in G1 DNA damage checkpoint","type":"exact"},{"name":"intracellular signal transduction pathway involved in G1/S DNA damage checkpoint","type":"exact"},{"name":"intracellular signaling cascade involved in G1 DNA damage checkpoint","type":"exact"},{"name":"intracellular signaling cascade involved in G1/S DNA damage checkpoint","type":"exact"},{"name":"intracellular signaling chain involved in G1 DNA damage checkpoint","type":"exact"},{"name":"intracellular signaling chain involved in G1/S DNA damage checkpoint","type":"exact"},{"name":"intracellular signaling pathway involved in G1 DNA damage checkpoint","type":"exact"},{"name":"intracellular signaling pathway involved in G1/S DNA damage checkpoint","type":"exact"},{"name":"mitotic G1 DNA damage checkpoint","type":"exact"},{"name":"mitotic cell cycle G1/S transition DNA damage checkpoint","type":"exact"},{"name":"signal transduction involved in mitotic G1 DNA damage checkpoint","type":"related"},{"name":"signal transduction involved in mitotic cell cycle G1/S transition DNA damage checkpoint","type":"related"},{"name":"signal transduction via intracellular signaling cascade involved in G1 DNA damage checkpoint","type":"exact"},{"name":"signal transduction via intracellular signaling cascade involved in G1/S DNA damage checkpoint","type":"exact"},{"name":"signal transmission via intracellular cascade involved in G1 DNA damage checkpoint","type":"exact"}],"termid":"GO:0031571","terms_by_termid":{"GO:0031571":null}}


id: MONDO:0006459
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall's corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors.","definition_xrefs":["NCIT:C6887"],"direct_ancestors":[{"relation_name":"is_a","term_name":"thymoma type B","termid":"MONDO:0016974"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005046"},{"rel_name":"is_a","termid":"MONDO:0005570"}],"interesting_parent_ids":["MONDO:0005046","MONDO:0005570"],"is_obsolete":false,"name":"thymoma type B1","secondary_identifiers":["UMLS:C1266094","MEDGEN:224761","ICDO:8583/1","EFO:1000584","DOID:6917"],"synonyms":[{"name":"lymphocyte-predominant thymoma","type":"exact"},{"name":"lymphocyte-rich thymoma","type":"exact"},{"name":"organoid thymoma","type":"exact"},{"name":"predominantly cortical thymoma","type":"exact"},{"name":"thymoma type B1","type":"exact"},{"name":"thymoma, organoid","type":"exact"}],"termid":"MONDO:0006459","xrefs":{"Monarch":{"xref_id":"0006459"}}}


id: PBO:0039685
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"amyloid beta precursor protein binding family B member 2","termid":"PBO:0039685"}


id: GO:0005858
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"A dynein complex found in eukaryotic cilia and flagella; the motor domain heads interact with adjacent microtubules to generate a sliding force which is converted to a bending motion.","definition_xrefs":["GOC:krc","ISBN:0815316194","GOC:cilia","GOC:hla"],"direct_ancestors":[{"relation_name":"is_a","term_name":"dynein complex","termid":"GO:0030286"},{"relation_name":"part_of","term_name":"axoneme","termid":"GO:0005930"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"part_of","termid":"GO:0015630"},{"rel_name":"part_of","termid":"GO:0005737"},{"rel_name":"is_a","termid":"GO:0005575"},{"rel_name":"is_a","termid":"GO:0032991"}],"interesting_parent_ids":["GO:0005737","GO:0005575","GO:0032991","GO:0015630"],"is_obsolete":false,"name":"axonemal dynein complex","synonyms":[{"name":"axonemal dynein heavy chain","type":"narrow"},{"name":"axonemal dynein intermediate chain","type":"narrow"},{"name":"axonemal dynein intermediate light chain","type":"narrow"},{"name":"axonemal dynein light chain","type":"narrow"}],"termid":"GO:0005858"}


id: GO:0050107
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: acetyl-CoA + a monoterpenol = CoA + a monoterpenol acetate ester.","definition_xrefs":["MetaCyc:MONOTERPENOL-O-ACETYLTRANSFERASE-RXN","EC:2.3.1.69"],"direct_ancestors":[{"relation_name":"is_a","term_name":"O-acetyltransferase activity","termid":"GO:0016413"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0016740"},{"rel_name":"is_a","termid":"GO:0016746"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0003824"}],"interesting_parent_ids":["GO:0016740","GO:0003674","GO:0016746","GO:0003824"],"is_obsolete":false,"name":"monoterpenol O-acetyltransferase activity","synonyms":[{"name":"acetyl-CoA:monoterpenol O-acetyltransferase activity","type":"related"},{"name":"menthol transacetylase activity","type":"narrow"}],"termid":"GO:0050107"}


id: PBO:0047653
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"FKBP prolyl isomerase 5","termid":"PBO:0047653"}


id: PR:O74794
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- cyc3 gene.","definition_xrefs":["PRO:DNx","UniProtKB:O74794"],"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":"cytochrome c heme lyase (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPBC26H8.12","synonyms":[{"name":"CCHL (Schizosaccharomyces pombe 972h-)","type":"exact"},{"name":"Spom972h-cyc3","type":"exact"},{"name":"holocytochrome-c synthase (Schizosaccharomyces pombe 972h-)","type":"exact"}],"termid":"PR:O74794"}


id: PBO:0005509
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"dynactin complex subunit, dynamitin (predicted)","termid":"PBO:0005509"}


id: MONDO:0016045
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Tetragametic chimerism is a rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins.","definition_xrefs":["Orphanet:199310"],"direct_ancestors":[{"relation_name":"is_a","term_name":"sex chromosome disorder of sex development","termid":"MONDO:0017975"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"tetragametic chimerism","secondary_identifiers":["GARD:20332","MEDGEN:609542","UMLS:C0432480"],"synonyms":[{"name":"46,XX/46,XY chimerism","type":"exact"}],"termid":"MONDO:0016045","xrefs":{"Monarch":{"xref_id":"0016045"}}}


id: GO:0047785
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: 3'-phospho-5'-adenylyl sulfate + cortisol = adenosine 3',5'-diphosphate + cortisol 21-sulfate + H+.","definition_xrefs":["RHEA:11884","EC:2.8.2.18"],"direct_ancestors":[{"relation_name":"is_a","term_name":"sulfotransferase activity","termid":"GO:0008146"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0016782"},{"rel_name":"is_a","termid":"GO:0016740"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0016740","GO:0003674","GO:0016782","GO:0003824"],"is_obsolete":false,"name":"cortisol sulfotransferase activity","secondary_identifiers":["KEGG_REACTION:R02839","MetaCyc:CORTISOL-SULFOTRANSFERASE-RXN"],"synonyms":[{"name":"3'-phosphoadenylyl-sulfate:cortisol 21-sulfotransferase activity","type":"related"},{"name":"cortisol sulphotransferase activity","type":"exact"},{"name":"glucocorticoid sulfotransferase activity","type":"related"},{"name":"glucocorticosteroid sulfotransferase activity","type":"broad"}],"termid":"GO:0047785"}


id: MONDO:0018528
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features.","definition_xrefs":["Orphanet:424107"],"direct_ancestors":[{"relation_name":"is_a","term_name":"RYR1-related myopathy","termid":"MONDO:0100150"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005336"}],"interesting_parent_ids":["MONDO:0005336"],"is_obsolete":false,"name":"congenital myopathy with myasthenic-like onset","secondary_identifiers":["SCTID:763315005","GARD:21783","UMLS:C4706390","MEDGEN:1642781"],"synonyms":[{"name":"congenital myopathy with myasthenic-like onset","type":"exact"}],"termid":"MONDO:0018528","xrefs":{"Monarch":{"xref_id":"0018528"}}}


id: PBO:0080529
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"WASH complex subunit 2A","termid":"PBO:0080529"}


id: PBO:0041902
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"CBFA2/RUNX1 partner transcriptional co-repressor 2","termid":"PBO:0041902"}


id: MONDO:0004054
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"acute inflammation of lacrimal passage","termid":"MONDO:0004055"}],"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":"acute canaliculitis","secondary_identifiers":["SCTID:84399007","UMLS:C0339130","DOID:6969","ICD9:375.31","MEDGEN:572974"],"synonyms":[{"name":"acute canaliculitis, lacrimal","type":"exact"},{"name":"acute lacrimal canaliculitis","type":"exact"}],"termid":"MONDO:0004054","xrefs":{"Monarch":{"xref_id":"0004054"}}}


id: PBO:0071560
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein L35a pseudogene 26","termid":"PBO:0071560"}


id: PBO:0058210
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 4502","termid":"PBO:0058210"}


id: MONDO:0000333
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A congenital syphilis that is manifested between 0 and 2 years old.","definition_xrefs":["Wikipedia:Congenital_syphilis#Early"],"direct_ancestors":[{"relation_name":"is_a","term_name":"congenital syphilis","termid":"MONDO:0005714"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"early congenital syphilis","secondary_identifiers":["MEDGEN:546894","ICD9:090.2","SCTID:4359001","icd11.foundation:108348777","UMLS:C0275859","DOID:0050488"],"synonyms":[{"name":"Early congenital syphilis (less than 2 years)","type":"broad"}],"termid":"MONDO:0000333","xrefs":{"Monarch":{"xref_id":"0000333"}}}


id: GO:0030798
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: S-adenosyl-L-methionine + trans-aconitate = (E)-3-(methoxycarbonyl)pent-2-enedioate + S-adenosyl-L-homocysteine.","definition_xrefs":["RHEA:14969","EC:2.1.1.144"],"direct_ancestors":[{"relation_name":"is_a","term_name":"S-adenosylmethionine-dependent methyltransferase activity","termid":"GO:0008757"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0016741"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0016740"},{"rel_name":"is_a","termid":"GO:0003824"}],"interesting_parent_ids":["GO:0003674","GO:0003824","GO:0016740","GO:0016741"],"is_obsolete":false,"name":"trans-aconitate 2-methyltransferase activity","secondary_identifiers":["MetaCyc:RXN0-2441","KEGG_REACTION:R05763"],"synonyms":[{"name":"S-adenosyl-L-methionine:(E)-prop-1-ene-1,2,3-tricarboxylate 2'-O-methyltransferase activity","type":"related"}],"termid":"GO:0030798"}


id: GO:0021537
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process whose specific outcome is the progression of the telencephalon over time, from its formation to the mature structure. The telencephalon is the paired anteriolateral division of the prosencephalon plus the lamina terminalis from which the olfactory lobes, cerebral cortex, and subcortical nuclei are derived.","definition_xrefs":["GOC:cls","GOC:dgh","GOC:dph","GOC:jid","GO_REF:0000021","PMID:12626695"],"direct_ancestors":[{"relation_name":"is_a","term_name":"anatomical structure development","termid":"GO:0048856"},{"relation_name":"part_of","term_name":"forebrain development","termid":"GO:0030900"}],"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":"telencephalon development","synonyms":[{"name":"cerebrum development","type":"exact"}],"termid":"GO:0021537"}


id: MONDO:0005577
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete narcolepsy without cataplexy (obsolete MONDO:0005577)","termid":"MONDO:0005577","xrefs":{"Monarch":{"xref_id":"0005577"}}}


id: GO:0004363
data:
  {"annotated_genes":["SJAG_01351"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[70860],"is_not":false,"summary":null,"term":"GO:0004363"}]},"cv_name":"molecular_function","definition":"Catalysis of the reaction: L-gamma-glutamyl-L-cysteine + ATP + glycine = ADP + glutathione + 2 H+ + phosphate.","definition_xrefs":["EC:6.3.2.3","RHEA:13557"],"direct_ancestors":[{"relation_name":"is_a","term_name":"acid-amino acid ligase activity","termid":"GO:0016881"},{"relation_name":"is_a","term_name":"non-ribosomal peptide synthetase activity","termid":"GO:1904091"}],"gene_count":1,"genes_by_uniquename":{"SJAG_01351":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0016874"},{"rel_name":"is_a","termid":"GO:0003824"}],"interesting_parent_ids":["GO:0003824","GO:0003674","GO:0016874"],"is_obsolete":false,"name":"glutathione synthase activity","references_by_uniquename":{"GO_REF:0000033":null},"secondary_identifiers":["KEGG_REACTION:R00497","Reactome:R-HSA-174394","Reactome:R-HSA-5602901","MetaCyc:GLUTATHIONE-SYN-RXN"],"synonyms":[{"name":"GSH synthetase activity","type":"related"},{"name":"gamma-L-glutamyl-L-cysteine:glycine ligase (ADP-forming)","type":"related"},{"name":"glutathione synthetase activity","type":"related"}],"termid":"GO:0004363","terms_by_termid":{"GO:0004363":null}}


id: PBO:0083852
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Exosome non-catalytic core component; involved in 3'-5' RNA processing and degradation in both the nucleus and the cytoplasm; predicted to contain an S1 RNA binding domain; human homolog EXOSC1 partially complements yeast csl4 null mutant, and can complement inviability of strain in which expression of CSL4 is repressed","termid":"PBO:0083852"}


id: PBO:0041354
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"complement C4B (Chido blood group)","termid":"PBO:0041354"}


id: GO:0019343
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the formation of cysteine, via the intermediate cystathionine.","definition_xrefs":["GOC:go_curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cysteine biosynthetic process","termid":"GO:0019344"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0044281"},{"rel_name":"is_a","termid":"GO:0006790"},{"rel_name":"is_a","termid":"GO:0006520"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150","GO:0044281","GO:0006790","GO:0006520"],"is_obsolete":false,"name":"cysteine biosynthetic process via cystathionine","synonyms":[{"name":"cysteine anabolism via cystathionine","type":"exact"},{"name":"cysteine formation via cystathionine","type":"exact"},{"name":"cysteine synthesis via cystathionine","type":"exact"}],"termid":"GO:0019343"}


id: FYPO:0000447
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 any process of protein complex assembly at the cellular level is abnormal.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal cellular component assembly during vegetative growth","termid":"FYPO:0001354"},{"relation_name":"is_a","term_name":"abnormal protein complex organization during vegetative growth","termid":"FYPO:0007402"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0001320"}],"interesting_parent_ids":["FYPO:0001320","FYPO:0001985","FYPO:0005447","FYPO:0000002"],"is_obsolete":false,"name":"abnormal protein-containing complex assembly","synonyms":[{"name":"abnormal protein complex assembly","type":"narrow"},{"name":"abnormal protein complex assembly during mitotic cell cycle","type":"related"},{"name":"abnormal protein complex assembly during vegetative growth","type":"exact"}],"termid":"FYPO:0000447"}


id: GO:0071773
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a bone morphogenetic protein (BMP) stimulus.","definition_xrefs":["GOC:yaf","GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cellular response to growth factor stimulus","termid":"GO:0071363"},{"relation_name":"is_a","term_name":"response to BMP","termid":"GO:0071772"}],"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":"cellular response to BMP stimulus","synonyms":[{"name":"cellular response to bone morphogenetic protein stimulus","type":"exact"}],"termid":"GO:0071773"}


id: PBO:0067691
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, 5.8S ribosomal N3","termid":"PBO:0067691"}


id: PBO:0084915
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Mitotic spindle protein; interacts with components of the Dam1 (DASH) complex, its effector Sli15p, and microtubule-associated protein Bim1p; also localizes to nuclear microtubules and to the bud neck in a ring-shaped structure; inhibits dynein function","termid":"PBO:0084915"}


id: PBO:0079416
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"tubulin beta 8 class VIII pseudogene 10","termid":"PBO:0079416"}


id: GO:0043248
data:
  {"annotated_genes":["SJAG_00126","SJAG_00954","SJAG_04290","SJAG_04602","SJAG_02570","SJAG_01652","SJAG_04197","SJAG_04844"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[58340,59585,62653,104706],"is_not":false,"summary":null,"term":"GO:0043248"},{"annotations":[115237],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0080129"},{"annotations":[80384,99843,116127],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0070682"}]},"cv_name":"biological_process","definition":"The aggregation, arrangement and bonding together of a mature, active proteasome complex.","definition_xrefs":["PMID:10872471","GOC:go_curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"protein-containing complex assembly","termid":"GO:0065003"}],"gene_count":8,"genes_by_uniquename":{"SJAG_00126":null,"SJAG_00954":null,"SJAG_01652":null,"SJAG_02570":null,"SJAG_04197":null,"SJAG_04290":null,"SJAG_04602":null,"SJAG_04844":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0065003"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"part_of","termid":"GO:0044085"}],"interesting_parent_ids":["GO:0044085","GO:0065003","GO:0008150"],"is_obsolete":false,"name":"proteasome assembly","references_by_uniquename":{"GO_REF:0000002":null,"GO_REF:0000033":null,"GO_REF:0000107":null},"secondary_identifiers":["Reactome:R-HSA-9907900"],"synonyms":[{"name":"26S proteasome assembly","type":"narrow"},{"name":"proteasome complex assembly","type":"exact"},{"name":"proteasome maturation","type":"exact"}],"termid":"GO:0043248","terms_by_termid":{"GO:0043248":null,"GO:0070682":null,"GO:0080129":null}}


id: PBO:0011965
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"transcription factor, zf-fungal binuclear cluster type(predicted)","termid":"PBO:0011965"}


id: FYPO:0007304
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A spindle phenotype in which the mitotic spindle is shorter than normal during anaphase.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"short bipolar mitotic spindle","termid":"FYPO:0000732"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0002399"},{"rel_name":"output_of","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"output_of","termid":"FYPO:0000054"},{"rel_name":"is_a","termid":"FYPO:0000120"},{"rel_name":"output_of","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0001320"}],"interesting_parent_ids":["FYPO:0001985","FYPO:0000120","FYPO:0000002","FYPO:0002399","FYPO:0001320","FYPO:0000054","FYPO:0005447"],"is_obsolete":false,"name":"short bipolar mitotic spindle during anaphase","synonyms":[{"name":"decreased mitotic spindle length during anaphase","type":"exact"},{"name":"short mitotic spindle during anaphase","type":"exact"},{"name":"short mitotic spindle during anaphase during vegetative growth","type":"exact"},{"name":"short mitotic spindles during anaphase","type":"exact"},{"name":"short spindle during mitotic anaphase","type":"exact"}],"termid":"FYPO:0007304"}


id: PBO:0042257
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"chaperonin containing TCP1 subunit 3 pseudogene 1","termid":"PBO:0042257"}


id: PBO:0029835
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-viable_swollen_vegetative_cell_with_abnormal_cell_shape","termid":"PBO:0029835"}


id: GO:0071345
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus.","definition_xrefs":["GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"response to cytokine","termid":"GO:0034097"}],"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":"cellular response to cytokine stimulus","secondary_identifiers":["Reactome:R-HSA-9007892","Reactome:R-HSA-9008059"],"termid":"GO:0071345"}


id: PBO:0072077
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein S12 pseudogene 7","termid":"PBO:0072077"}


id: PBO:0004105
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"F0-ATPase subunit D (predicted)","termid":"PBO:0004105"}


id: PBO:0063570
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"peptidase E","termid":"PBO:0063570"}


id: FYECO:0000396
data:
  {"annotation_feature_type":"gene","cv_name":"fission_yeast_phenotype_condition","definition":"An experimental condition in which micafungin was added to the medium or assay buffer in excess compared to standard medium or assay buffers at sub lethal dose for the assayed cell density.","definition_xrefs":["PomBase:vw"],"direct_ancestors":[{"relation_name":"is_a","term_name":"+ micafungin","termid":"FYECO:0000395"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"+ micafungin SLD","termid":"FYECO:0000396"}


id: FYPO:0005528
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 the formation of chromatin knobs in subtelomeric regions is decreased. Chromatin knobs are highly condensed chromatin bodies formed from subtelomeric heterochromatin (observed on chromosomes 1 and 2).","definition_xrefs":["PomBase:mah","PMID:26205977"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal heterochromatin organization during vegetative growth","termid":"FYPO:0004543"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0000641"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0000002"}],"interesting_parent_ids":["FYPO:0001985","FYPO:0005447","FYPO:0000641","FYPO:0001320","FYPO:0000002"],"is_obsolete":false,"name":"decreased subtelomeric chromatin knob formation","synonyms":[{"name":"decreased frequency of knob-containing nuclei","type":"related"},{"name":"decreased subtelomeric chromatin condensation","type":"broad"},{"name":"decreased subtelomeric chromatin knob assembly","type":"exact"},{"name":"reduced subtelomeric chromatin knob formation","type":"exact"}],"termid":"FYPO:0005528"}


id: PBO:0085341
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Phosphoinositide PI4,5P(2) binding protein, forms a complex with Slm1p; acts downstream of Mss4p in a pathway regulating actin cytoskeleton organization in response to stress; TORC2 complex substrate and effector; SLM2 has a paralog, SLM1, that arose from the whole genome duplication","termid":"PBO:0085341"}


id: GO:1990566
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"An inward rectifier potassium channel complex expressed in cardiac muscle, specifically the sinoatrial node and atria, where it controls the heart rate, via regulation by G protein-coupled receptor signaling. In mammals it is composed of GIRK1 (or Kir3.1) and GIRK4 (or Kir3.4) subunits.","definition_xrefs":["GOC:ame","PMID:9765280"],"direct_ancestors":[{"relation_name":"is_a","term_name":"inward rectifier potassium channel complex","termid":"GO:1902937"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"part_of","termid":"GO:0005886"},{"rel_name":"is_a","termid":"GO:0005575"},{"rel_name":"is_a","termid":"GO:0032991"}],"interesting_parent_ids":["GO:0032991","GO:0005886","GO:0005575"],"is_obsolete":false,"name":"I(KACh) inward rectifier potassium channel complex","synonyms":[{"name":"GIRK1-GIRK4 G protein-coupled atrial inward rectifier potassium channel complex","type":"related"},{"name":"Kir3.1-Kir3.4 G protein-coupled atrial inward rectifier potassium channel complex","type":"related"},{"name":"muscarinic potassium channel complex","type":"related"}],"termid":"GO:1990566"}


id: SO:0001429
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"A binding site that, in the molecule, interacts selectively and non-covalently with DNA.","definition_xrefs":["SO:ke"],"direct_ancestors":[{"relation_name":"is_a","term_name":"nucleotide_binding_site","termid":"SO:0001655"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"DNA_binding_site","synonyms":[{"name":"DNA binding site","type":"exact"}],"termid":"SO:0001429"}


id: GO:1904386
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a L-phenylalanine derivative stimulus.","definition_xrefs":["GOC:TermGenie","PMID:12112407","GO_REF:0000071"],"direct_ancestors":[{"relation_name":"is_a","term_name":"response to nitrogen compound","termid":"GO:1901698"}],"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":"response to L-phenylalanine derivative","termid":"GO:1904386"}


id: GO:0036431
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: ATP + dCMP = ADP + dCDP.","definition_xrefs":["RHEA:25094"],"direct_ancestors":[{"relation_name":"is_a","term_name":"deoxynucleoside phosphate kinase activity, ATP as phosphate donor","termid":"GO:0047507"}],"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:0016740"},{"rel_name":"is_a","termid":"GO:0016301"}],"interesting_parent_ids":["GO:0003674","GO:0016301","GO:0016740","GO:0003824"],"is_obsolete":false,"name":"dCMP kinase activity","secondary_identifiers":["KEGG_REACTION:R01665","MetaCyc:RXN-7913"],"synonyms":[{"name":"ATP:dCMP phosphotransferase activity","type":"exact"}],"termid":"GO:0036431"}


id: PBO:0063970
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"piwi-interacting RNA cluster 4","termid":"PBO:0063970"}


id: GO:0015685
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"A process in which ferric-enterobactin, the iron-bound form of the siderophore enterobactin, is transported into the cell by specific cell surface receptors.","definition_xrefs":["GOC:pg","PMID:23192658"],"direct_ancestors":[{"relation_name":"is_a","term_name":"organic anion transport","termid":"GO:0015711"},{"relation_name":"is_a","term_name":"siderophore-dependent iron import into cell","termid":"GO:0033214"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0098771"},{"rel_name":"is_a","termid":"GO:0006810"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0051179"}],"interesting_parent_ids":["GO:0006810","GO:0008150","GO:0098771","GO:0051179"],"is_obsolete":false,"name":"ferric-enterobactin import into cell","synonyms":[{"name":"ferric-enterobactin transport","type":"broad"}],"termid":"GO:0015685"}


id: PBO:0088131
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Vacuolar membrane protein of unknown function; involved in vacuolar protein sorting; also detected in the mitochondria","termid":"PBO:0088131"}


id: MONDO:0008772
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Any amelogenesis imperfecta in which the cause of the disease is a mutation in the KLK4 gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"amelogenesis imperfecta type 2","termid":"MONDO:0015048"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"amelogenesis imperfecta type 2A1","secondary_identifiers":["MESH:C538242","MEDGEN:436039","DOID:0110057","GARD:9495","MESH:C567146","OMIM:204700","UMLS:C2673922"],"synonyms":[{"name":"AI2A1","type":"exact"},{"name":"KLK4 amelogenesis imperfecta","type":"exact"},{"name":"amelogenesis imperfecta caused by mutation in KLK4","type":"exact"},{"name":"amelogenesis imperfecta pigmented hypomaturation type","type":"related"},{"name":"amelogenesis imperfecta pigmented hypomaturation type 1","type":"exact"},{"name":"amelogenesis imperfecta type IIA1","type":"exact"},{"name":"amelogenesis imperfecta, hypomaturation type, IIA1","type":"related"},{"name":"amelogenesis imperfecta, pigmented hypomaturation type, 1","type":"related"},{"name":"amelogenesis imperfecta, type IIA1","type":"exact"}],"termid":"MONDO:0008772","xrefs":{"Monarch":{"xref_id":"0008772"}}}


id: MONDO:0015959
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete inherited syndrome with bone tumors as a major feature (obsolete MONDO:0015959)","secondary_identifiers":["Orphanet:183527"],"synonyms":[{"name":"genetic bone tumor","type":"related"}],"termid":"MONDO:0015959","xrefs":{"Monarch":{"xref_id":"0015959"}}}


id: MONDO:0031646
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":"Braddock-Carey syndrome","secondary_identifiers":["OMIMPS:619980"],"termid":"MONDO:0031646","xrefs":{"Monarch":{"xref_id":"0031646"}}}


id: MONDO:0043975
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)","definition_xrefs":["MESH:D020211"],"direct_ancestors":[{"relation_name":"is_a","term_name":"autonomic nervous system disorder","termid":"MONDO:0001292"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"autonomic dysreflexia","secondary_identifiers":["MEDGEN:66758","UMLS:C0238015","SCTID:129618003","icd11.foundation:1401282234"],"synonyms":[{"name":"Dysreflexia, autonomic","type":"related"},{"name":"Dysreflexia, spinal autonomic","type":"related"},{"name":"Dysreflexias, autonomic","type":"related"},{"name":"Dysreflexias, spinal autonomic","type":"related"},{"name":"autonomic Dysreflexia, spinal","type":"related"},{"name":"autonomic Dysreflexias","type":"related"},{"name":"autonomic Dysreflexias, spinal","type":"related"},{"name":"autonomic Hyperreflexias","type":"related"},{"name":"autonomic dysreflexia","type":"exact"},{"name":"autonomic hyperreflexia","type":"related"},{"name":"dysreflexia","type":"related"},{"name":"hyperreflexia, autonomic","type":"related"},{"name":"hyperreflexias, autonomic","type":"related"},{"name":"spinal autonomic Dysreflexia","type":"related"},{"name":"spinal autonomic Dysreflexias","type":"related"}],"termid":"MONDO:0043975","xrefs":{"Monarch":{"xref_id":"0043975"}}}


id: SO:0000679
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"A 5' splice site which does not have the sequence \\\"GT\\\".","definition_xrefs":["SO:ke"],"direct_ancestors":[{"relation_name":"is_a","term_name":"five_prime_cis_splice_site","termid":"SO:0000163"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"non_canonical_five_prime_splice_site","synonyms":[{"name":"non canonical 5' splice site","type":"exact"},{"name":"non canonical five prime splice site","type":"exact"},{"name":"non-canonical five prime splice site","type":"exact"}],"termid":"SO:0000679"}


id: GO:0120146
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Binding to sulfatide, also known as 3-O-sulfogalactosylceramide, SM4, or sulfated galactocerebroside. Sulfatide is a class of sulfoglycolipid, which are glycolipids that contain a sulfate group.","definition_xrefs":["PMID:29497057","PMID:23574804","PMID:21525289","GOC:krc","Wikipedia:Sulfatide","PMID:22619219","PMID:22977233","PMID:3549017"],"direct_ancestors":[{"relation_name":"is_a","term_name":"glycolipid binding","termid":"GO:0051861"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0005488"},{"rel_name":"is_a","termid":"GO:0008289"}],"interesting_parent_ids":["GO:0008289","GO:0003674","GO:0005488"],"is_obsolete":false,"name":"sulfatide binding","synonyms":[{"name":"3-O-sulfogalactosylceramide binding","type":"exact"},{"name":"SM4 binding","type":"exact"},{"name":"sulfated galactocerebroside binding","type":"exact"}],"termid":"GO:0120146"}


id: GO:0042313
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process resulting in the inhibition or termination of the activity of protein kinase C.","definition_xrefs":["GOC:bf"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of G protein-coupled receptor signaling pathway","termid":"GO:0008277"}],"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:0023052","GO:0008150"],"is_obsolete":false,"name":"protein kinase C deactivation","synonyms":[{"name":"PKC deactivation","type":"exact"}],"termid":"GO:0042313"}


id: GO:0016203
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The developmental process in which a skeletal muscle attaches to its target (such as bone or body wall).","definition_xrefs":["GOC:isa_complete","GOC:sart"],"direct_ancestors":[{"relation_name":"is_a","term_name":"multicellular organismal process","termid":"GO:0032501"},{"relation_name":"part_of","term_name":"skeletal muscle organ development","termid":"GO:0060538"}],"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":"muscle attachment","termid":"GO:0016203"}


id: GO:0051793
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the breakdown of a medium-chain fatty acid. A medium-chain fatty acid has an aliphatic tail containing 6 to 12 carbons.","definition_xrefs":["Wikipedia:Fatty_acid_metabolism"],"direct_ancestors":[{"relation_name":"is_a","term_name":"fatty acid catabolic process","termid":"GO:0009062"},{"relation_name":"is_a","term_name":"medium-chain fatty acid metabolic process","termid":"GO:0051791"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0044281"},{"rel_name":"is_a","termid":"GO:0006629"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0044281","GO:0006629","GO:0008150"],"is_obsolete":false,"name":"medium-chain fatty acid catabolic process","synonyms":[{"name":"medium chain fatty acid catabolic process","type":"exact"},{"name":"medium chain fatty acid catabolism","type":"exact"},{"name":"medium-chain fatty acid breakdown","type":"exact"},{"name":"medium-chain fatty acid catabolism","type":"exact"},{"name":"medium-chain fatty acid degradation","type":"exact"}],"termid":"GO:0051793"}


id: GO:0097119
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The clustering process in which postsynaptic density protein 95 (PSD-95) molecules are localized to distinct domains in the cell membrane. PSD-95 is mostly located in the post synaptic density of neurons, and is involved in anchoring synaptic proteins.","definition_xrefs":["PMID:10433269","GOC:BHF","GOC:sjp"],"direct_ancestors":[{"relation_name":"is_a","term_name":"protein localization to membrane","termid":"GO:0072657"},{"relation_name":"part_of","term_name":"postsynaptic membrane organization","termid":"GO:0001941"},{"relation_name":"part_of","term_name":"postsynaptic density organization","termid":"GO:0097106"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"part_of","termid":"GO:0061024"},{"rel_name":"is_a","termid":"GO:0051179"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0061024","GO:0008150","GO:0051179"],"is_obsolete":false,"name":"postsynaptic density protein 95 clustering","synonyms":[{"name":"Dlg4 clustering","type":"exact"},{"name":"PSD-95 clustering","type":"exact"},{"name":"post-synaptic density protein 95 clustering","type":"exact"}],"termid":"GO:0097119"}


id: PBO:0076424
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"TATA-box binding protein associated factor 11","termid":"PBO:0076424"}


id: MONDO:0019438
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ.","definition_xrefs":["Orphanet:85443"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"obsolete secondary glomerular disease (obsolete MONDO:0019724)","termid":"MONDO:0019724"},{"relation_name":"is_a","term_name":"nervous system disorder","termid":"MONDO:0005071"},{"relation_name":"is_a","term_name":"acquired metabolic disease","termid":"MONDO:0006504"},{"relation_name":"is_a","term_name":"non-familial hypertrophic cardiomyopathy","termid":"MONDO:0016330"},{"relation_name":"is_a","term_name":"non-familial restrictive cardiomyopathy","termid":"MONDO:0016345"},{"relation_name":"is_a","term_name":"amyloidosis","termid":"MONDO:0019065"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005066"},{"rel_name":"is_a","termid":"MONDO:0005267"},{"rel_name":"is_a","termid":"MONDO:0021179"}],"interesting_parent_ids":["MONDO:0005267","MONDO:0021179","MONDO:0005066"],"is_obsolete":false,"name":"AL amyloidosis","secondary_identifiers":["icd11.foundation:1061366491","MedDRA:10036673","icd11.foundation:113043090","MESH:C531616","DOID:0080933","GARD:5797","NANDO:1200211","MEDGEN:75674","UMLS:C0268381","NCIT:C158963"],"synonyms":[{"name":"Light chain amyloidosis","type":"related"},{"name":"Light-chain amyloidosis","type":"exact"},{"name":"amyloidosis AL","type":"related"},{"name":"amyloidosis primary systemic","type":"related"},{"name":"primary AL amyloidosis","type":"related"},{"name":"primary amyloidosis","type":"exact"},{"name":"primary systemic AL amyloidosis","type":"related"},{"name":"primary systemic amyloidosis","type":"related"},{"name":"systemic AL amyloidsis","type":"related"}],"termid":"MONDO:0019438","xrefs":{"Monarch":{"xref_id":"0019438"}}}


id: MONDO:0010933
data:
  {"annotated_genes":["SJAG_02463","SJAG_01941"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[85685,85686],"is_not":false,"summary":null,"term":"MONDO:0010933"}]},"cv_name":"mondo","definition":"An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22. Mutation in the FOXI1 gene has been found to be a rare cause of EVA. EVA may also be rarely caused by digenic inheritance of heterozygous mutations in the SLC26A4 and FOXI1 genes, or in the SLC26A4 and KCNJ10 genes.","definition_xrefs":["PMID:9500541","DOID:0110498","OMIM:600791"],"direct_ancestors":[{"relation_name":"is_a","term_name":"hearing loss, autosomal recessive","termid":"MONDO:0019588"}],"gene_count":2,"genes_by_uniquename":{"SJAG_01941":null,"SJAG_02463":null},"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":"autosomal recessive nonsyndromic hearing loss 4","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["UMLS:C3538946","GARD:22584","MEDGEN:761234","MESH:C566366"],"synonyms":[{"name":"DFNB4","type":"narrow"},{"name":"autosomal recessive deafness 4 with enlarged vestibular aqueduct","type":"narrow"},{"name":"autosomal recessive nonsyndromic deafness 4","type":"narrow"},{"name":"autosomal recessive nonsyndromic deafness type 4","type":"narrow"},{"name":"deafness, autosomal recessive 4, with enlarged vestibular aqueduct","type":"narrow"},{"name":"dilated vestibular aqueduct","type":"related"},{"name":"enlarged vestibular aqueduct","type":"exact"},{"name":"enlarged vestibular aqueduct, digenic","type":"exact"},{"name":"neurosensory nonsyndromic recessive deafness 4","type":"narrow"}],"termid":"MONDO:0010933","terms_by_termid":{"MONDO:0010933":null},"xrefs":{"Monarch":{"xref_id":"0010933"}}}


id: MONDO:0018493
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gasses such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat.","definition_xrefs":["Orphanet:423"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"syndromic disease","termid":"MONDO:0002254"},{"relation_name":"is_a","term_name":"muscular channelopathy","termid":"MONDO:0019119"},{"relation_name":"is_a","term_name":"hereditary neuromuscular disease","termid":"MONDO:0100546"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"malignant hyperthermia of anesthesia","secondary_identifiers":["MEDGEN:9867","GARD:6964","DOID:8545","MESH:D008305","SCTID:405501007","ICD9:995.86","UMLS:C0024591","HP:0002047","NCIT:C84869","MedDRA:10020844"],"synonyms":[{"name":"anaesthesia related hyperthermia","type":"exact"},{"name":"anesthesia related hyperthermia","type":"exact"},{"name":"hyperthermia of anaesthesia","type":"exact"},{"name":"hyperthermia of anesthesia","type":"exact"},{"name":"malignant hyperpyrexia","type":"exact"},{"name":"malignant hyperpyrexia due to anaesthesia","type":"exact"},{"name":"malignant hyperpyrexia due to anesthesia","type":"exact"},{"name":"malignant hyperthermia","type":"exact"},{"name":"malignant hyperthermia of anesthesia","type":"exact"},{"name":"malignant hyperthermia syndrome","type":"exact"}],"termid":"MONDO:0018493","xrefs":{"Monarch":{"xref_id":"0018493"}}}


id: PBO:0088438
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Schizosaccharomyces specific protein Tam13/Mug147, tandem fusion","termid":"PBO:0088438"}


id: GO:0002851
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that activates or increases the frequency, rate, or extent of peripheral T cell tolerance induction.","definition_xrefs":["GOC:add"],"direct_ancestors":[{"relation_name":"is_a","term_name":"positive regulation of peripheral tolerance induction","termid":"GO:0002660"},{"relation_name":"is_a","term_name":"positive regulation of T cell tolerance induction","termid":"GO:0002666"},{"relation_name":"is_a","term_name":"positive regulation of T cell mediated immunity","termid":"GO:0002711"},{"relation_name":"is_a","term_name":"regulation of peripheral T cell tolerance induction","termid":"GO:0002849"},{"relation_name":"positively_regulates","term_name":"peripheral T cell tolerance induction","termid":"GO:0002458"}],"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 peripheral T cell tolerance induction","synonyms":[{"name":"activation of peripheral T cell tolerance induction","type":"narrow"},{"name":"stimulation of peripheral T cell tolerance induction","type":"narrow"},{"name":"up regulation of peripheral T cell tolerance induction","type":"exact"},{"name":"up-regulation of peripheral T cell tolerance induction","type":"exact"},{"name":"upregulation of peripheral T cell tolerance induction","type":"exact"}],"termid":"GO:0002851"}


id: PBO:0047896
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"fragile site, aphidicolin type, common, fra(7)(p14.2)","termid":"PBO:0047896"}


id: GO:0006524
data:
  {"annotated_genes":["SJAG_04145"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[68965],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0042853"}]},"cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the breakdown of alanine, 2-aminopropanoic acid.","definition_xrefs":["GOC:go_curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"alanine metabolic process","termid":"GO:0006522"},{"relation_name":"is_a","term_name":"alpha-amino acid catabolic process","termid":"GO:1901606"}],"gene_count":1,"genes_by_uniquename":{"SJAG_04145":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0006520"},{"rel_name":"is_a","termid":"GO:0044281"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0006520","GO:0008150","GO:0044281"],"is_obsolete":false,"name":"alanine catabolic process","references_by_uniquename":{"GO_REF:0000041":null},"synonyms":[{"name":"alanine breakdown","type":"exact"},{"name":"alanine catabolism","type":"exact"},{"name":"alanine degradation","type":"exact"}],"termid":"GO:0006524","terms_by_termid":{"GO:0042853":null}}


id: PBO:0112844
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"asynchronous replication autosomal RNA 1-1","termid":"PBO:0112844"}


id: PBO:0069152
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U6 small nuclear 403, pseudogene","termid":"PBO:0069152"}


id: RO:0008503
data:
  {"annotation_feature_type":"gene","cv_name":"relationship","definition":"A sub-relation of parasite of in which a parasite steals resources from another organism, usually food or nest material","direct_ancestors":[{"relation_name":"is_a","term_name":"parasite_of","termid":"RO:0002444"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"kleptoparasite_of","termid":"RO:0008503"}


id: PBO:0087060
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Ribosomal 60S subunit protein L2A; homologous to mammalian ribosomal protein L2 and bacterial L2; RPL2A has a paralog, RPL2B, that arose from the whole genome duplication","termid":"PBO:0087060"}


id: GO:0042835
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Binding to a BRE RNA element (Bruno response element).","definition_xrefs":["PMID:10893231"],"direct_ancestors":[{"relation_name":"is_a","term_name":"RNA binding","termid":"GO:0003723"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005488"},{"rel_name":"is_a","termid":"GO:0003723"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0005488","GO:0003674","GO:0003723"],"is_obsolete":false,"name":"BRE binding","termid":"GO:0042835"}


id: GO:0050002
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: 5-aminopentanoate + [PrdC protein]-Se-L-selenocysteinyl-S-L-cysteine = [PrdC protein]-L-selenocysteine/L-cysteine + D-proline.","definition_xrefs":["EC:1.21.4.1"],"direct_ancestors":[{"relation_name":"is_a","term_name":"oxidoreductase activity, acting on X-H and Y-H to form an X-Y bond, with a disulfide as acceptor","termid":"GO:0050485"}],"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:0016491","GO:0003824","GO:0003674"],"is_obsolete":false,"name":"D-proline reductase activity","secondary_identifiers":["RHEA:12737","MetaCyc:1.21.4.1-RXN"],"synonyms":[{"name":"5-aminopentanoate:[PrdC protein] oxidoreductase (cyclizing) activity","type":"related"},{"name":"D-proline reductase (dithiol) activity","type":"related"}],"termid":"GO:0050002"}


id: MONDO:0010463
data:
  {"annotated_genes":["SJAG_03844"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[87254],"is_not":false,"summary":null,"term":"MONDO:0010463"}]},"cv_name":"mondo","definition":"A rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.","definition_xrefs":["Orphanet:163966"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"X-linked syndromic intellectual disability","termid":"MONDO:0020119"},{"relation_name":"is_a","term_name":"syndromic disease","termid":"MONDO:0002254"},{"relation_name":"is_a","term_name":"hereditary disease","termid":"MONDO:0003847"}],"gene_count":1,"genes_by_uniquename":{"SJAG_03844":null},"genotype_count":0,"is_obsolete":false,"name":"X-linked dominant chondrodysplasia, Chassaing-Lacombe type","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["DOID:0112106","MEDGEN:477107","OMIM:300863","SCTID:719837003","GARD:17007","UMLS:C3275476"],"synonyms":[{"name":"X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome","type":"exact"},{"name":"chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia","type":"related"},{"name":"chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, X-linked dominant","type":"exact"}],"termid":"MONDO:0010463","terms_by_termid":{"MONDO:0010463":null},"xrefs":{"Monarch":{"xref_id":"0010463"}}}


id: PBO:0038787
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"adenosine deaminase","termid":"PBO:0038787"}


id: MONDO:0004352
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"An ependymoma of the brain occurring in adults.","definition_xrefs":["NCIT:C9372"],"direct_ancestors":[{"relation_name":"is_a","term_name":"ependymal tumor of brain","termid":"MONDO:0004245"}],"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":"adult brain ependymoma","secondary_identifiers":["UMLS:C1332186","DOID:7750","MEDGEN:231033"],"synonyms":[{"name":"adult brain ependymoma","type":"exact"},{"name":"brain ependymoma","type":"broad"}],"termid":"MONDO:0004352","xrefs":{"Monarch":{"xref_id":"0004352"}}}


id: PBO:0001855
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase family or domain","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"octicosapeptide repeat","termid":"PBO:0001855"}


id: MONDO:0000982
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete Brown's tendon sheath syndrome (obsolete MONDO:0000982)","termid":"MONDO:0000982","xrefs":{"Monarch":{"xref_id":"0000982"}}}


id: MONDO:0004993
data:
  {"annotated_genes":["SJAG_01144","SJAG_01410","SJAG_03453","SJAG_04206","SJAG_01151","SJAG_04067","SJAG_03787","SJAG_02049","SJAG_04394","SJAG_03720","SJAG_02426","SJAG_00079","SJAG_00757","SJAG_00440","SJAG_02231","SJAG_01970","SJAG_03689","SJAG_04502","SJAG_03677","SJAG_02460"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[87529],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0014937"},{"annotations":[87001],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0007256"},{"annotations":[86557,86558,87678,87681,87680,86559,87679,86560,86561,87682],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0016419"},{"annotations":[86520],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0003789"},{"annotations":[87138,87139,87140],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0007763"},{"annotations":[86240],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0012004"},{"annotations":[86711],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0011014"},{"annotations":[87660,86217,87659],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0008566"}]},"cv_name":"mondo","definition":"A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas.","definition_xrefs":["NCIT:C2916"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cancer","termid":"MONDO:0004992"},{"relation_name":"is_a","term_name":"epithelial neoplasm","termid":"MONDO:0005626"}],"gene_count":20,"genes_by_uniquename":{"SJAG_00079":null,"SJAG_00440":null,"SJAG_00757":null,"SJAG_01144":null,"SJAG_01151":null,"SJAG_01410":null,"SJAG_01970":null,"SJAG_02049":null,"SJAG_02231":null,"SJAG_02426":null,"SJAG_02460":null,"SJAG_03453":null,"SJAG_03677":null,"SJAG_03689":null,"SJAG_03720":null,"SJAG_03787":null,"SJAG_04067":null,"SJAG_04206":null,"SJAG_04394":null,"SJAG_04502":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0004992"}],"interesting_parent_ids":["MONDO:0004992"],"is_obsolete":false,"name":"carcinoma","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["EFO:0000313","SCTID:722688002","DOID:305","UMLS:C0007097","ICDO:8011/3","MESH:D002277","ICDO:8010/3","MEDGEN:2867","CSP:2000-1867"],"synonyms":[{"name":"Other carcinoma","type":"exact"},{"name":"carcinoma","type":"exact"},{"name":"carcinoma, malignant","type":"exact"},{"name":"epithelial carcinoma","type":"exact"},{"name":"epithelioma","type":"broad"},{"name":"epithelioma malignant","type":"exact"},{"name":"malignant epithelial neoplasm","type":"exact"},{"name":"malignant epithelial tumor","type":"exact"},{"name":"malignant epithelial tumour","type":"exact"},{"name":"malignant epithelioma","type":"exact"}],"termid":"MONDO:0004993","terms_by_termid":{"MONDO:0003789":null,"MONDO:0007256":null,"MONDO:0007763":null,"MONDO:0008566":null,"MONDO:0011014":null,"MONDO:0012004":null,"MONDO:0014937":null,"MONDO:0016419":null},"xrefs":{"Monarch":{"xref_id":"0004993"}}}


id: GO:0022890
data:
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id: GO:1905298
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id: MONDO:0014473
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id: PBO:0017575
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id: PBO:0038777
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id: GO:0000467
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id: GO:2000235
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id: MONDO:0009811
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id: PBO:0045195
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id: GO:0004963
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id: GO:1901197
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id: PBO:0060554
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id: GO:0046035
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id: PBO:0076503
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id: PBO:0059566
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id: MOD:00891
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id: PBO:0065264
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"PRR23 family member E2, pseudogene","termid":"PBO:0065264"}


id: PBO:0047856
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"fragile site, aphidicolin type, common, fra(1)(q44)","termid":"PBO:0047856"}


id: PBO:0066109
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RAS guanyl releasing protein 1","termid":"PBO:0066109"}


id: PATO:0002444
data:
  {"annotation_feature_type":"gene","cv_name":"quality","definition":"A composition quality inhering in a bearer by virtue of the bearer's being composed of or possessing inorganic material.","definition_xrefs":["PATOC:WC"],"direct_ancestors":[{"relation_name":"is_a","term_name":"composition","termid":"PATO:0000025"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"mineralized","termid":"PATO:0002444"}


id: PBO:0011404
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-cell,_anatomy,_cellular_component,_biological_process_and_developmental_stage","termid":"PBO:0011404"}


id: PBO:0091964
data:
  {"annotation_feature_type":"gene","cv_name":"warning","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"was previously curated onto incorrect strand","termid":"PBO:0091964"}


id: PBO:0079653
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"UBE2V1 pseudogene 1","termid":"PBO:0079653"}


id: MONDO:0005186
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A psychologically and socially impaired state, with or without physiological changes, that develops as a result of using cocaine and which leads to compulsive behaviors to acquire the substance.","definition_xrefs":["NCIT:P378"],"direct_ancestors":[{"relation_name":"is_a","term_name":"drug dependence","termid":"MONDO:0005303"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"cocaine dependence","secondary_identifiers":["SCTID:31956009","icd11.foundation:1691013484","UMLS:C0600427","ICD9:304.2","NCIT:C34492","MEDGEN:154705","ICD9:304.20","DOID:9975","EFO:0002610"],"synonyms":[{"name":"cocaine addiction","type":"exact"}],"termid":"MONDO:0005186","xrefs":{"Monarch":{"xref_id":"0005186"}}}


id: PBO:0003035
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"pseudogene transporter","termid":"PBO:0003035"}


id: MONDO:0014991
data:
  {"annotated_genes":["SJAG_01776"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[87365],"is_not":false,"summary":null,"term":"MONDO:0014991"}]},"cv_name":"mondo","definition":"Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"Seckel syndrome","termid":"MONDO:0019342"},{"relation_name":"is_a","term_name":"primordial dwarfism and slender bone disorder","termid":"MONDO:0800063"}],"gene_count":1,"genes_by_uniquename":{"SJAG_01776":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0006025"}],"interesting_parent_ids":["MONDO:0006025"],"is_obsolete":false,"name":"Seckel syndrome 10","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["DOID:0070008","UMLS:C4310647","MEDGEN:934614","OMIM:617253","GARD:18484"],"synonyms":[{"name":"NSMCE2 Seckel syndrome","type":"exact"},{"name":"SCKL10","type":"exact"},{"name":"Seckel syndrome 10","type":"exact"},{"name":"Seckel syndrome caused by mutation in NSMCE2","type":"exact"},{"name":"Seckel syndrome type 10","type":"exact"}],"termid":"MONDO:0014991","terms_by_termid":{"MONDO:0014991":null},"xrefs":{"Monarch":{"xref_id":"0014991"}}}


id: PBO:0070649
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein L7 pseudogene 20","termid":"PBO:0070649"}


id: GO:0008682
data:
  {"annotated_genes":["SJAG_00459"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[74471],"is_not":false,"summary":null,"term":"GO:0008682"}]},"cv_name":"molecular_function","definition":"Catalysis of the reaction: a 6-methoxy-3-methyl-2-all-trans-polyprenyl-1,4-benzoquinol + donor-H2 + O2 = acceptor + a 3-demethylubiquinol + H2O.","definition_xrefs":["RHEA:50908"],"direct_ancestors":[{"relation_name":"is_a","term_name":"monooxygenase activity","termid":"GO:0004497"},{"relation_name":"is_a","term_name":"oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen","termid":"GO:0016705"}],"gene_count":1,"genes_by_uniquename":{"SJAG_00459":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0016491"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0003824","GO:0003674","GO:0016491"],"is_obsolete":false,"name":"3-demethoxyubiquinol 3-hydroxylase activity","references_by_uniquename":{"GO_REF:0000033":null},"secondary_identifiers":["EC:1.14.99.60","MetaCyc:RXN-18458"],"synonyms":[{"name":"2-octoprenyl-3-methyl-6-methoxy-1,4-benzoquinone hydroxylase activity","type":"narrow"},{"name":"demethoxy-ubiquinone hydroxylase","type":"related"},{"name":"demethoxyubiquinone monooxygenase","type":"related"}],"termid":"GO:0008682","terms_by_termid":{"GO:0008682":null}}


id: MONDO:0010311
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.","definition_xrefs":["Orphanet:98895"],"direct_ancestors":[{"relation_name":"is_a","term_name":"muscular dystrophy","termid":"MONDO:0020121"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005336"}],"interesting_parent_ids":["MONDO:0005336"],"is_obsolete":false,"name":"Becker muscular dystrophy","secondary_identifiers":["MedDRA:10059117","SCTID:387732009","icd11.foundation:690532643","OMIM:300376","MEDGEN:182959","MESH:C570377","DOID:9883","GARD:5900","NCIT:C84587","UMLS:C0917713","NANDO:1200489","NANDO:2200865"],"synonyms":[{"name":"BMD","type":"exact"},{"name":"Becker dystrophinopathy","type":"exact"},{"name":"Becker muscular dystrophy","type":"exact"},{"name":"Becker muscular dystrophy, X-linked recessive","type":"exact"},{"name":"Becker's muscular dystrophy","type":"related"},{"name":"benign congenital myopathy","type":"exact"},{"name":"benign pseudohypertrophic muscular dystrophy","type":"exact"},{"name":"muscular dystrophy pseudohypertrophic progressive, Becker type","type":"related"},{"name":"muscular dystrophy, Becker type","type":"related"},{"name":"muscular dystrophy, pseudohypertrophic progressive, Becker type","type":"related"}],"termid":"MONDO:0010311","xrefs":{"Monarch":{"xref_id":"0010311"}}}


id: GO:0005519
data:
  {"annotated_genes":["SJAG_04624"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[67712],"is_not":false,"summary":null,"term":"GO:0005519"}]},"cv_name":"molecular_function","definition":"Binding to a protein involved in modulating the reorganization of the cytoskeleton.","definition_xrefs":["PMID:15163540","GOC:go_curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cytoskeletal protein binding","termid":"GO:0008092"}],"gene_count":1,"genes_by_uniquename":{"SJAG_04624":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005515"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0005488"},{"rel_name":"is_a","termid":"GO:0008092"}],"interesting_parent_ids":["GO:0003674","GO:0005488","GO:0008092","GO:0005515"],"is_obsolete":false,"name":"cytoskeletal regulatory protein binding","references_by_uniquename":{"GO_REF:0000002":null},"termid":"GO:0005519","terms_by_termid":{"GO:0005519":null}}


id: GO:0046337
data:
  {"annotated_genes":["SJAG_04628","SJAG_01233","SJAG_03524","SJAG_04792","SJAG_02980","SJAG_01918","SJAG_02902","SJAG_04319"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[67485,93420,71431,75748,62213,104340,73925,79504],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0006646"}]},"cv_name":"biological_process","definition":"The chemical reactions and pathways involving phosphatidylethanolamine, any of a class of glycerophospholipids in which a phosphatidyl group is esterified to the hydroxyl group of ethanolamine. It is a major structural phospholipid in mammalian systems. It tends to be more abundant than phosphatidylcholine in the internal membranes of the cell and is an abundant component of prokaryotic membranes.","definition_xrefs":["GOC:curators","ISBN:0198506732"],"direct_ancestors":[{"relation_name":"is_a","term_name":"glycerophospholipid metabolic process","termid":"GO:0006650"}],"gene_count":8,"genes_by_uniquename":{"SJAG_01233":null,"SJAG_01918":null,"SJAG_02902":null,"SJAG_02980":null,"SJAG_03524":null,"SJAG_04319":null,"SJAG_04628":null,"SJAG_04792":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0006629"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0006629","GO:0008150"],"is_obsolete":false,"name":"phosphatidylethanolamine metabolic process","references_by_uniquename":{"GO_REF:0000033":null,"GO_REF:0000041":null,"GO_REF:0000107":null},"synonyms":[{"name":"phosphatidylethanolamine metabolism","type":"exact"}],"termid":"GO:0046337","terms_by_termid":{"GO:0006646":null}}


id: PR:O94639
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- zrt1 gene.","definition_xrefs":["PRO:DNx","UniProtKB:O94639"],"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":"zinc-regulated transporter 1 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPBC16D10.06","synonyms":[{"name":"Spom972h-zrt1","type":"exact"},{"name":"high-affinity zinc transport protein zrt1 (Schizosaccharomyces pombe 972h-)","type":"exact"}],"termid":"PR:O94639"}


id: GO:0060897
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The pattern specification process that results in the subdivision of an axis or axes of the neural plate in space to define an area or volume in which specific patterns of cell differentiation will take place or in which cells interpret a specific environment.","definition_xrefs":["GOC:tb","GOC:sdb_2009","GOC:dph"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regionalization","termid":"GO:0003002"},{"relation_name":"is_a","term_name":"neural plate pattern specification","termid":"GO:0060896"}],"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":"neural plate regionalization","termid":"GO:0060897"}


id: PBO:0002024
data:
  {"annotation_feature_type":"gene","cv_name":"genome_org","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"co-expressed with adjacent tandem gene","termid":"PBO:0002024"}


id: PBO:0081025
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"zinc finger CCCH-type containing 7A","termid":"PBO:0081025"}


id: MONDO:0030885
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"familial amyotrophic lateral sclerosis","termid":"MONDO:0005144"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005559"}],"interesting_parent_ids":["MONDO:0005559"],"is_obsolete":false,"name":"amyotrophic lateral sclerosis 26 with or without frontotemporal dementia","secondary_identifiers":["GARD:16425","MEDGEN:1771903","OMIM:619133","DOID:0081380","UMLS:C5436882"],"synonyms":[{"name":"ALS26","type":"exact"}],"termid":"MONDO:0030885","xrefs":{"Monarch":{"xref_id":"0030885"}}}


id: PBO:0063753
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"PHB1 pseudogene 18","termid":"PBO:0063753"}


id: GO:0033637
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. Any process in which an organism modulates a change in state or activity of a host cell or organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cold stimulus, a temperature stimulus below the optimal temperature for that organism. The host is defined as the larger of the organisms involved in a symbiotic interaction.","definition_xrefs":["GOC:pamgo_curators"],"gene_count":0,"genotype_count":0,"name":"obsolete modulation by symbiont of host response to cold (obsolete GO:0033637)","synonyms":[{"name":"freezing tolerance","type":"related"}],"termid":"GO:0033637"}


id: PBO:0066049
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RAP1 GTPase activating protein 2","termid":"PBO:0066049"}


id: GO:1900423
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. A positive regulation of transcription from RNA polymerase II promoter that results in positive regulation of mating type switching.","definition_xrefs":["GOC:TermGenie","PMID:8804308"],"gene_count":0,"genotype_count":0,"name":"obsolete positive regulation of mating type switching by positive regulation of transcription from RNA polymerase II promoter (obsolete GO:1900423)","synonyms":[{"name":"activation of mating type switching by positive regulation of transcription from RNA polymerase II promoter","type":"narrow"},{"name":"stimulation of mating type switching by positive regulation of transcription from RNA polymerase II promoter","type":"narrow"},{"name":"up regulation of mating type switching by positive regulation of transcription from RNA polymerase II promoter","type":"exact"},{"name":"up-regulation of mating type switching by positive regulation of transcription from RNA polymerase II promoter","type":"exact"},{"name":"upregulation of mating type switching by positive regulation of transcription from RNA polymerase II promoter","type":"exact"}],"termid":"GO:1900423"}


id: PBO:0000766
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase family or domain","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"KH domain","termid":"PBO:0000766"}


id: PR:Q9UTR5
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- rgf2 gene.","definition_xrefs":["PRO:DNx","UniProtKB:Q9UTR5"],"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":"rho1 guanine nucleotide exchange factor 2 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAC1006.06","synonyms":[{"name":"Spom972h-rgf2","type":"exact"}],"termid":"PR:Q9UTR5"}


id: GO:0140208
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any apoptotic process that occurs as a result of mitochondrial fragmentation.","definition_xrefs":["PMID:18940801"],"direct_ancestors":[{"relation_name":"is_a","term_name":"apoptotic process","termid":"GO:0006915"}],"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":"apoptotic process in response to mitochondrial fragmentation","synonyms":[{"name":"apoptosis in response to mitochondrial fragmentation","type":"exact"}],"termid":"GO:0140208"}


id: MONDO:0005071
data:
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id: PBO:0089382
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Rab GAP Gyp51","termid":"PBO:0089382"}


id: GO:0010376
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process that gives rise to the stomatal complex. This process pertains to the initial formation of a structure from unspecified parts. The stomatal complex is the stomatal guard cells and their associated epidermal cells.","definition_xrefs":["PMID:17259259"],"direct_ancestors":[{"relation_name":"is_a","term_name":"anatomical structure formation involved in morphogenesis","termid":"GO:0048646"},{"relation_name":"part_of","term_name":"stomatal complex morphogenesis","termid":"GO:0010103"}],"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":"stomatal complex formation","termid":"GO:0010376"}


id: MONDO:0011995
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.","definition_xrefs":["Orphanet:314993"],"direct_ancestors":[{"relation_name":"is_a","term_name":"disorder of development or morphogenesis","termid":"MONDO:0021147"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"cataract - congenital heart disease - neural tube defect syndrome","secondary_identifiers":["MEDGEN:330832","MESH:C564271","OMIM:608227","GARD:17440","UMLS:C1842363"],"synonyms":[{"name":"craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developintellectual disability","type":"related"},{"name":"craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation","type":"related"}],"termid":"MONDO:0011995","xrefs":{"Monarch":{"xref_id":"0011995"}}}


id: GO:1900187
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of cell adhesion involved in single-species biofilm formation.","definition_xrefs":["GOC:di","GOC:TermGenie"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of cell-substrate adhesion","termid":"GO:0010810"},{"relation_name":"regulates","term_name":"cell adhesion involved in single-species biofilm formation","termid":"GO:0043709"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"regulates","termid":"GO:0007155"}],"interesting_parent_ids":["GO:0008150","GO:0007155"],"is_obsolete":false,"name":"regulation of cell adhesion involved in single-species biofilm formation","synonyms":[{"name":"regulation of cell adhesion during single-species biofilm formation","type":"related"}],"termid":"GO:1900187"}


id: GO:0010867
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that increases the rate, frequency, or extent of triglyceride biosynthesis. Triglyceride biosynthesis is the collection of chemical reactions and pathways resulting in the formation of triglyceride, any triester of glycerol.","definition_xrefs":["GOC:BHF","GOC:tb"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of triglyceride biosynthetic process","termid":"GO:0010866"},{"relation_name":"is_a","term_name":"positive regulation of lipid biosynthetic process","termid":"GO:0046889"},{"relation_name":"is_a","term_name":"positive regulation of triglyceride metabolic process","termid":"GO:0090208"},{"relation_name":"positively_regulates","term_name":"triglyceride biosynthetic process","termid":"GO:0019432"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"regulates","termid":"GO:0006629"},{"rel_name":"positively_regulates","termid":"GO:0006629"}],"interesting_parent_ids":["GO:0006629","GO:0008150"],"is_obsolete":false,"name":"positive regulation of triglyceride biosynthetic process","synonyms":[{"name":"positive regulation of triacylglycerol biosynthetic process","type":"exact"}],"termid":"GO:0010867"}


id: PBO:0017531
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"cytoplasmic tryptophan-tRNA ligase Wrs1 (predicted)","termid":"PBO:0017531"}


id: MONDO:0007071
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"chronic primary adrenal insufficiency","termid":"MONDO:0015129"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"adrenocortical hypofunction, chronic primary congenital","secondary_identifiers":["MESH:C562711","MEDGEN:78784","GARD:15033","ICD9:255.41","OMIM:103230","SCTID:12427005","UMLS:C0271740"],"synonyms":[{"name":"Addison disease, congenital","type":"related"},{"name":"adrenocortical hypofunction, chronic primary congenital","type":"exact"}],"termid":"MONDO:0007071","xrefs":{"Monarch":{"xref_id":"0007071"}}}


id: MONDO:0019824
data:
  {"annotated_genes":["SJAG_00321","SJAG_02829","SJAG_04398","SJAG_03418","SJAG_00301","SJAG_03698","SJAG_04110","SJAG_03597"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[86683],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0012794"},{"annotations":[87225],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0008980"},{"annotations":[87311],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0032787"},{"annotations":[86254,86255],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0026763"},{"annotations":[87352],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0030886"},{"annotations":[85860],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0009514"},{"annotations":[85570],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0010961"},{"annotations":[87058],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0014497"}]},"cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"pituitary deficiency","termid":"MONDO:0015127"},{"relation_name":"is_a","term_name":"hereditary endocrine growth disease","termid":"MONDO:0015514"}],"gene_count":8,"genes_by_uniquename":{"SJAG_00301":null,"SJAG_00321":null,"SJAG_02829":null,"SJAG_03418":null,"SJAG_03597":null,"SJAG_03698":null,"SJAG_04110":null,"SJAG_04398":null},"genotype_count":0,"is_obsolete":false,"name":"non-acquired pituitary hormone deficiency","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["GARD:19272","UMLS:C5681572","ICD10CM:E23.0","MEDGEN:1842784","Orphanet:95488"],"termid":"MONDO:0019824","terms_by_termid":{"MONDO:0008980":null,"MONDO:0009514":null,"MONDO:0010961":null,"MONDO:0012794":null,"MONDO:0014497":null,"MONDO:0026763":null,"MONDO:0030886":null,"MONDO:0032787":null},"xrefs":{"Monarch":{"xref_id":"0019824"}}}


id: GO:0006868
data:
  {"annotated_genes":["SJAG_03400"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[63610],"is_not":false,"summary":null,"term":"GO:0006868"}]},"cv_name":"biological_process","definition":"The directed movement of glutamine, 2-amino-4-carbamoylbutanoic acid, 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":"neutral amino acid transport","termid":"GO:0015804"},{"relation_name":"is_a","term_name":"carboxylic acid transport","termid":"GO:0046942"},{"relation_name":"is_a","term_name":"nitrogen compound transport","termid":"GO:0071705"}],"gene_count":1,"genes_by_uniquename":{"SJAG_03400":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:0008150","GO:0006810","GO:0051179"],"is_obsolete":false,"name":"glutamine transport","references_by_uniquename":{"GO_REF:0000108":null},"secondary_identifiers":["GO:0015815"],"synonyms":[{"name":"L-glutamine transport","type":"narrow"}],"termid":"GO:0006868","terms_by_termid":{"GO:0006868":null}}


id: GO:0072629
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The appearance of interleukin-28B due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels.","definition_xrefs":["GOC:BHF","GOC:mah","PMID:15546383"],"direct_ancestors":[{"relation_name":"is_a","term_name":"type III interferon production","termid":"GO:0034343"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0010467"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150","GO:0010467"],"is_obsolete":false,"name":"interleukin-28B production","secondary_identifiers":["GO:0072630"],"synonyms":[{"name":"IL-28B production","type":"exact"},{"name":"IL28B production","type":"exact"},{"name":"interferon lambda 3 production","type":"exact"},{"name":"interleukin-28B secretion","type":"narrow"}],"termid":"GO:0072629"}


id: PBO:0055263
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 2690","termid":"PBO:0055263"}


id: PBO:0018011
data:
  {"annotation_feature_type":"gene","cv_name":"misc","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"the aconitase+bL21 domain localize to mitochondria and the nucleus, the sole aconitase domain localizes to mitochondria","termid":"PBO:0018011"}


id: PBO:0042342
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"CD79b molecule","termid":"PBO:0042342"}


id: GO:0030377
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Combining with the urokinase plasminogen activator to initiate a change in cell activity.","definition_xrefs":["PMID:16456079","GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"signaling receptor activity","termid":"GO:0038023"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0038023"}],"interesting_parent_ids":["GO:0038023","GO:0003674"],"is_obsolete":false,"name":"urokinase plasminogen activator receptor activity","secondary_identifiers":["Wikipedia:Urokinase_receptor"],"synonyms":[{"name":"U-plasminogen activator receptor activity","type":"exact"},{"name":"uPAR","type":"exact"},{"name":"urokinase plasminogen activator receptor","type":"exact"}],"termid":"GO:0030377"}


id: PBO:0080990
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"zinc finger and BTB domain containing 21","termid":"PBO:0080990"}


id: MONDO:0012955
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"lung cancer","termid":"MONDO:0008903"},{"relation_name":"is_a","term_name":"hereditary neoplastic syndrome","termid":"MONDO:0015356"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"lung cancer susceptibility 4","secondary_identifiers":["OMIM:612593","MEDGEN:390808","UMLS:C2675479"],"synonyms":[{"name":"LNCR4","type":"exact"},{"name":"lung cancer susceptibility 4","type":"exact"}],"termid":"MONDO:0012955","xrefs":{"Monarch":{"xref_id":"0012955"}}}


id: GO:0140288
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"A SWI/SNF subcomplex that incorporates two mutually exclusive paralogs, GLTSCR1 (glioma tumor suppressor candidate region gene 1) or GLTSCR1L (GLTSCR1-like), BRD9 (bromodomain-containing 9) and the BAF subunits BAF155, BAF60, SS18, BAF53a, and BRG1/BRM.","definition_xrefs":["PMID:29374058"],"direct_ancestors":[{"relation_name":"is_a","term_name":"SWI/SNF superfamily-type complex","termid":"GO:0070603"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"part_of","termid":"GO:0005634"},{"rel_name":"is_a","termid":"GO:0032991"},{"rel_name":"is_a","termid":"GO:0005575"},{"rel_name":"part_of","termid":"GO:0005694"}],"interesting_parent_ids":["GO:0005634","GO:0005575","GO:0005694","GO:0032991"],"is_obsolete":false,"name":"GBAF complex","termid":"GO:0140288"}


id: PBO:0028523
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-normal_histone_acetylation","termid":"PBO:0028523"}


id: PBO:0068770
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U6 small nuclear 7","termid":"PBO:0068770"}


id: MONDO:0008321
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":"pruritus, hereditary localized","secondary_identifiers":["UMLS:C1867499","MEDGEN:356792","MESH:C566754","OMIM:177100"],"synonyms":[{"name":"pruritus, hereditary localized","type":"exact"}],"termid":"MONDO:0008321","xrefs":{"Monarch":{"xref_id":"0008321"}}}


id: MONDO:0018910
data:
  {"annotated_genes":["SJAG_03960","SJAG_00115"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[87435],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0011683"},{"annotations":[85508],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0014070"}]},"cv_name":"mondo","definition":"Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7.","definition_xrefs":["Orphanet:55"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"autosomal recessive disease","termid":"MONDO:0006025"},{"relation_name":"is_a","term_name":"disorder of melanin metabolism","termid":"MONDO:0018134"},{"relation_name":"is_a","term_name":"hypopigmentation of the skin","termid":"MONDO:0019290"},{"relation_name":"is_a","term_name":"hereditary skin disorder","termid":"MONDO:0100118"}],"gene_count":2,"genes_by_uniquename":{"SJAG_00115":null,"SJAG_03960":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005093"},{"rel_name":"is_a","termid":"MONDO:0005066"}],"interesting_parent_ids":["MONDO:0005066","MONDO:0005093"],"is_obsolete":false,"name":"oculocutaneous albinism","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["NCIT:C84941","OMIMPS:203100","UMLS:C0078918","GARD:10958","DOID:0050632","SCTID:63844009","MESH:D016115","NANDO:1200641","NANDO:2200986","NORD:1522","NANDO:1200637","ICD9:270.2","MEDGEN:36250","icd11.foundation:1189424097"],"synonyms":[{"name":"OCA","type":"exact"},{"name":"albinism, oculocutaneous","type":"related"},{"name":"non-syndromic oculocutaneous albinism","type":"exact"},{"name":"nonsyndromic oculocutaneous albinism","type":"exact"}],"termid":"MONDO:0018910","terms_by_termid":{"MONDO:0011683":null,"MONDO:0014070":null},"xrefs":{"Monarch":{"xref_id":"0018910"}}}


id: PBO:0000578
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase family or domain","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"pumilio family","termid":"PBO:0000578"}


id: PBO:0049693
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"HAO2 intronic transcript 1","termid":"PBO:0049693"}


id: GO:0051264
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: mono-olein + mono-olein = diolein + glycerol. Mono-olein, also known as mono-oleoylglycerol, is the monoglyceride formed from oleic acid, 9-octodecenoic acid; diolein is also known as dioleoylglycerol.","definition_xrefs":["GOC:ai","PMID:15364929"],"direct_ancestors":[{"relation_name":"is_a","term_name":"acylglycerol O-acyltransferase activity","termid":"GO:0016411"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0016740"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0016746"}],"interesting_parent_ids":["GO:0016746","GO:0016740","GO:0003674","GO:0003824"],"is_obsolete":false,"name":"mono-olein transacylation activity","synonyms":[{"name":"MOG transacylation","type":"exact"},{"name":"acyl-CoA-independent mono-olein transacylation","type":"exact"},{"name":"mono-oleoylglycerol O-acyltransferase activity","type":"exact"},{"name":"mono-oleoylglycerol transacylase activity","type":"exact"},{"name":"monoolein transacylation","type":"exact"},{"name":"monooleoylglycerol O-acyltransferase activity","type":"exact"},{"name":"monooleoylglycerol transacylase activity","type":"exact"}],"termid":"GO:0051264"}


id: PBO:0049390
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"GTP binding protein 3, mitochondrial","termid":"PBO:0049390"}


id: FYPO:0002241
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cell morphology phenotype observed in the vegetative growth phase of the life cycle in which a cell is shaped in the form of a spheroid, has one or more septa, and has a normal volume.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"normal volume spheroid vegetative cell","termid":"FYPO:0000946"},{"relation_name":"is_a","term_name":"septated spheroid vegetative cell","termid":"FYPO:0005149"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"has_part","termid":"FYPO:0000005"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0000005"},{"rel_name":"has_part","termid":"FYPO:0000257"},{"rel_name":"has_part","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0001312"},{"rel_name":"is_a","termid":"FYPO:0000257"},{"rel_name":"has_part","termid":"FYPO:0001320"}],"interesting_parent_ids":["FYPO:0000005","FYPO:0000002","FYPO:0001312","FYPO:0001320","FYPO:0000257","FYPO:0001985"],"is_obsolete":false,"name":"normal volume septated spheroid vegetative cell","synonyms":[{"name":"normal volume septated rounded vegetative cell","type":"exact"}],"termid":"FYPO:0002241"}


id: PBO:0004233
data:
  {"annotation_feature_type":"gene","cv_name":"disease_associated","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"hypercalciuric nephrolithiasis","termid":"PBO:0004233"}


id: PBO:0044316
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"cytochrome b-245 beta chain","termid":"PBO:0044316"}


id: MONDO:0006204
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete extramammary Paget disease (obsolete MONDO:0006204)","termid":"MONDO:0006204","xrefs":{"Monarch":{"xref_id":"0006204"}}}


id: GO:0031533
data:
  {"annotated_genes":["SJAG_01724","SJAG_04488"],"annotation_feature_type":"gene","cv_annotations":{"cellular_component":[{"annotations":[64010,69055],"is_not":false,"summary":null,"term":"GO:0031533"}]},"cv_name":"cellular_component","definition":"A protein complex that consists of an RNA 5' triphosphatase and a guanyl transferase (Cet1p and Ceg1p in S. cerevisiae; Pct1 and Ceg1 in S. pombe) and is involved in mRNA capping.","definition_xrefs":["GOC:vw","PMID:10347220","PMID:12455993","PMID:9345280"],"direct_ancestors":[{"relation_name":"is_a","term_name":"nuclear protein-containing complex","termid":"GO:0140513"}],"gene_count":2,"genes_by_uniquename":{"SJAG_01724":null,"SJAG_04488":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"part_of","termid":"GO:0005634"},{"rel_name":"is_a","termid":"GO:0032991"},{"rel_name":"is_a","termid":"GO:0005575"}],"interesting_parent_ids":["GO:0032991","GO:0005575","GO:0005634"],"is_obsolete":false,"name":"mRNA capping enzyme complex","references_by_uniquename":{"GO_REF:0000002":null,"GO_REF:0000104":null},"termid":"GO:0031533","terms_by_termid":{"GO:0031533":null}}


id: FYPO:0001748
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 the import of nickel ions into a cell occurs to a lower extent than normal.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal nickel import","termid":"FYPO:0001747"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0000138"},{"rel_name":"is_a","termid":"FYPO:0001985"}],"interesting_parent_ids":["FYPO:0000002","FYPO:0001985","FYPO:0000138","FYPO:0001320","FYPO:0005447"],"is_obsolete":false,"name":"decreased nickel import","synonyms":[{"name":"decreased cellular nickel import","type":"exact"},{"name":"decreased nickel cation import","type":"exact"},{"name":"decreased nickel import across plasma membrane","type":"exact"},{"name":"decreased nickel import during mitotic cell cycle","type":"related"},{"name":"decreased nickel import during vegetative growth","type":"exact"},{"name":"decreased nickel import into cell","type":"exact"},{"name":"decreased nickel ion import","type":"exact"},{"name":"reduced nickel import","type":"exact"}],"termid":"FYPO:0001748"}


id: MONDO:0002949
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A histologic variant of basal cell carcinoma of the skin characterized by the presence of strands and nests of malignant cells that are embedded in a dense fibrotic stroma.","definition_xrefs":["NCIT:P378"],"direct_ancestors":[{"relation_name":"is_a","term_name":"skin basal cell carcinoma","termid":"MONDO:0005341"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005093"},{"rel_name":"is_a","termid":"MONDO:0004992"}],"interesting_parent_ids":["MONDO:0005093","MONDO:0004992"],"is_obsolete":false,"name":"morpheaform basal cell carcinoma","secondary_identifiers":["UMLS:C0555191","DOID:4292","MEDGEN:107825","NCIT:C27182","SCTID:403913006"],"synonyms":[{"name":"basal cell carcinoma sclerosing type","type":"exact"},{"name":"basal cell carcinoma, morphea","type":"exact"},{"name":"cicatricial basal-cell carcinoma","type":"exact"},{"name":"morphea-type (sclerosing) basal cell carcinoma","type":"exact"},{"name":"morphea-type basal cell carcinoma","type":"exact"},{"name":"morpheaform basal cell carcinoma","type":"exact"},{"name":"sclerosing type basal cell carcinoma","type":"exact"},{"name":"skin morphea-type (sclerosing) basal cell carcinoma","type":"exact"}],"termid":"MONDO:0002949","xrefs":{"Monarch":{"xref_id":"0002949"}}}


id: MONDO:0002414
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A hemangioma arising from the stomach.","definition_xrefs":["NCIT:C5481"],"direct_ancestors":[{"relation_name":"is_a","term_name":"intra-abdominal hemangioma","termid":"MONDO:0002337"},{"relation_name":"is_a","term_name":"benign neoplasm of stomach","termid":"MONDO:0021449"}],"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":"gastric hemangioma","secondary_identifiers":["UMLS:C1333770","DOID:275","MEDGEN:234297"],"synonyms":[{"name":"angioma of stomach","type":"exact"},{"name":"angioma of the stomach","type":"exact"},{"name":"gastric angioma","type":"exact"},{"name":"gastric hemangioma","type":"exact"},{"name":"hemangioma of stomach","type":"exact"},{"name":"hemangioma of the stomach","type":"exact"},{"name":"stomach hemangioma","type":"exact"}],"termid":"MONDO:0002414","xrefs":{"Monarch":{"xref_id":"0002414"}}}


id: PBO:0003728
data:
  {"annotation_feature_type":"gene","cv_name":"DNA_binding_specificity","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"binds SRE 5'-[A/T]TCAC[A/C]CAT-3'","termid":"PBO:0003728"}


id: MONDO:0017458
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete postaxial polydactyly of toes (obsolete MONDO:0017458)","secondary_identifiers":["SCTID:205133005","Orphanet:295008"],"synonyms":[{"name":"postaxial polydactyly of foot","type":"exact"}],"termid":"MONDO:0017458","xrefs":{"Monarch":{"xref_id":"0017458"}}}


id: GO:0034720
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. The modification of histone H3 by the removal of a methyl group from lysine at position 4 of the histone.","definition_xrefs":["GOC:mah"],"gene_count":0,"genotype_count":0,"name":"obsolete histone H3-K4 demethylation (obsolete GO:0034720)","synonyms":[{"name":"H3K4 demethylation (me1 me2 and me3)","type":"related"}],"termid":"GO:0034720"}


id: MONDO:0013152
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"inherited disease susceptibility","termid":"MONDO:0020573"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"systemic lupus erythematosus, susceptibility to, 14","secondary_identifiers":["MEDGEN:413921","UMLS:C2751054","OMIM:613145"],"synonyms":[{"name":"SLEB14","type":"exact"},{"name":"systemic lupus erythematosus, susceptibility to, 14","type":"exact"}],"termid":"MONDO:0013152","xrefs":{"Monarch":{"xref_id":"0013152"}}}


id: PBO:0043630
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"COPI coat complex subunit beta 2","termid":"PBO:0043630"}


id: FYPO:0000967
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 acetylation of lysine at position 14 of histone H3 in centromere outer repeat regions occurs to a lower extent than normal.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal histone H3-K14 acetylation at centromere outer repeat during vegetative growth","termid":"FYPO:0000965"},{"relation_name":"is_a","term_name":"decreased histone H3-K14 acetylation during vegetative growth","termid":"FYPO:0001458"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0002274"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0002494"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0005447"}],"interesting_parent_ids":["FYPO:0002494","FYPO:0002274","FYPO:0005447","FYPO:0000002","FYPO:0001985","FYPO:0001320"],"is_obsolete":false,"name":"decreased histone H3-K14 acetylation at centromere outer repeat during vegetative growth","synonyms":[{"name":"decreased histone H3-K14 acetylation at centromere otr during vegetative growth","type":"exact"},{"name":"decreased histone H3-K14 acetylation at centromere outer repeat during mitotic cell cycle","type":"related"},{"name":"decreased histone H3-K14 acetylation at centromeric outer repeat region during vegetative growth","type":"exact"},{"name":"decreased histone H3-K14 acetylation at pericentric region during vegetative growth","type":"related"},{"name":"decreased histone H3-K14 acetylation at pericentromeric region during vegetative growth","type":"related"},{"name":"decreased histone H3K14 acetylation at centromere outer repeat during vegetative growth","type":"exact"},{"name":"reduced histone H3-K14 acetylation at centromere outer repeat during vegetative growth","type":"exact"}],"termid":"FYPO:0000967"}


id: MONDO:0004745
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Persistent and usually painful erection that lasts for at least four hours in the absence of physical or psychological stimulation, which can be caused by hematologic disorders, including sickle cell disease and leukemia, spinal cord injuries, and medications.","definition_xrefs":["NCIT:P378"],"direct_ancestors":[{"relation_name":"is_a","term_name":"peripheral vascular disease","termid":"MONDO:0005294"},{"relation_name":"is_a","term_name":"erectile dysfunction","termid":"MONDO:0005362"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"priapism","secondary_identifiers":["SCTID:6273006","DOID:9286","GARD:19933","icd11.foundation:1983776037","MEDGEN:19462","UMLS:C0033117","ICD10CM:N48.3","ICD9:607.3","MESH:D011317","Orphanet:140949"],"synonyms":[{"name":"low-flow priapism","type":"narrow"},{"name":"mentulagra","type":"exact"}],"termid":"MONDO:0004745","xrefs":{"Monarch":{"xref_id":"0004745"}}}


id: PBO:0058645
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 6774","termid":"PBO:0058645"}


id: MONDO:0022900
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"OBSOLETE. Congenital hypothyroidism in which fetal deficiency was severe because of complete absence (athyreosis) of the gland. Physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue (macroglossia)","definition_xrefs":["Wikipedia:Congenital_hypothyroidism"],"gene_count":0,"genotype_count":0,"name":"obsolete athyreotic congenital hypothyroidism (obsolete MONDO:0022900)","secondary_identifiers":["GARD:1610"],"synonyms":[{"name":"cretinism athyreotic","type":"related"}],"termid":"MONDO:0022900","xrefs":{"Monarch":{"xref_id":"0022900"}}}


id: GO:0014740
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents, or reduces the frequency, rate, or extent of muscle hyperplasia.","definition_xrefs":["GOC:mtg_muscle"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of muscle hyperplasia","termid":"GO:0014738"},{"relation_name":"is_a","term_name":"negative regulation of muscle adaptation","termid":"GO:0014745"},{"relation_name":"negatively_regulates","term_name":"muscle hyperplasia","termid":"GO:0014900"}],"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 muscle hyperplasia","termid":"GO:0014740"}


id: PBO:0078962
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"tRNA-Ser (anticodon AGA) 2-5","termid":"PBO:0078962"}


id: PBO:0013834
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Mst2 histone acetytransferase acytyltransferase complex subunit","termid":"PBO:0013834"}


id: PBO:0047509
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"FERM domain containing kindlin 1","termid":"PBO:0047509"}


id: SO:0002295
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"A TF_binding_site that is involved in regulation of expression.","definition_xrefs":["PMID:32665585","Bacterial_regulation_working_group:CMA"],"direct_ancestors":[{"relation_name":"is_a","term_name":"TF_binding_site","termid":"SO:0000235"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"transcription_factor_regulatory_site","synonyms":[{"name":"TFRS","type":"exact"},{"name":"transcription factor regulatory site","type":"exact"}],"termid":"SO:0002295"}


id: FYPO:0005057
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cellular process phenotype in which meiotic DNA double-strand break clipping does not occur. Meiotic DNA double-strand break clipping is the process by which SPO11/Rec12-oligonucleotide complexes are removed from 5' DNA double-strand breaks induced during meiosis.","definition_xrefs":["GO:1990898","PMID:26130711","PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal meiotic recombination","termid":"FYPO:0000008"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0000293"},{"rel_name":"is_a","termid":"FYPO:0000631"},{"rel_name":"is_a","termid":"FYPO:0001985"}],"interesting_parent_ids":["FYPO:0000631","FYPO:0000293","FYPO:0005447","FYPO:0001985","FYPO:0000002"],"is_obsolete":false,"name":"abolished meiotic DNA double-strand break clipping","synonyms":[{"name":"meiotic DNA double-strand break clipping abolished","type":"exact"}],"termid":"FYPO:0005057"}


id: PBO:0068856
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U6 small nuclear 95, pseudogene","termid":"PBO:0068856"}


id: PBO:0040369
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ATP synthase peripheral stalk-membrane subunit b pseudogene 6","termid":"PBO:0040369"}


id: MONDO:0016630
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery.","definition_xrefs":["Orphanet:248340"],"direct_ancestors":[{"relation_name":"is_a","term_name":"inherited thrombocytopenia","termid":"MONDO:0100241"}],"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":"isolated delta-storage pool disease","secondary_identifiers":["GARD:20674","icd11.foundation:2133567182"],"synonyms":[{"name":"isolated delta-SPD","type":"exact"},{"name":"isolated dense-SPD","type":"exact"},{"name":"isolated dense-storage pool disease","type":"exact"}],"termid":"MONDO:0016630","xrefs":{"Monarch":{"xref_id":"0016630"}}}


id: PBO:0029699
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-inviable_septated_mononucleate_vegetative_cell","termid":"PBO:0029699"}


id: GO:0008119
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: S-adenosyl-L-methionine + a thiopurine = S-adenosyl-L-homocysteine + a thiopurine S-methylether.","definition_xrefs":["EC:2.1.1.67"],"direct_ancestors":[{"relation_name":"is_a","term_name":"S-methyltransferase activity","termid":"GO:0008172"},{"relation_name":"is_a","term_name":"S-adenosylmethionine-dependent methyltransferase activity","termid":"GO:0008757"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0016741"},{"rel_name":"is_a","termid":"GO:0016740"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0003824"}],"interesting_parent_ids":["GO:0003824","GO:0016741","GO:0016740","GO:0003674"],"is_obsolete":false,"name":"thiopurine S-methyltransferase activity","secondary_identifiers":["Reactome:R-HSA-158609","Reactome:R-HSA-5603379","MetaCyc:THIOPURINE-S-METHYLTRANSFERASE-RXN","Reactome:R-HSA-9748979","Reactome:R-HSA-9748983"],"synonyms":[{"name":"6-thiopurine transmethylase activity","type":"related"},{"name":"S-adenosyl-L-methionine:thiopurine S-methyltransferase activity","type":"related"},{"name":"TPMT","type":"related"},{"name":"mercaptopurine methyltransferase activity","type":"related"},{"name":"thiopurine methyltransferase activity","type":"related"}],"termid":"GO:0008119"}


id: PBO:0048515
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"GDP dissociation inhibitor 2 pseudogene 2","termid":"PBO:0048515"}


id: PBO:0046872
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"FAM3 metabolism regulating signaling molecule C","termid":"PBO:0046872"}


id: PBO:0031736
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-increased_mitotic_recombination","termid":"PBO:0031736"}


id: FYPO:0004992
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cell phenotype in which the amount of protein measured in a cell during interphase of the meiotic cell cycle is lower than normal. Total protein or a specific protein may be affected.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"decreased protein level during meiotic cell cycle","termid":"FYPO:0004991"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"output_of","termid":"FYPO:0001985"},{"rel_name":"output_of","termid":"FYPO:0005447"},{"rel_name":"output_of","termid":"FYPO:0006551"},{"rel_name":"is_a","termid":"FYPO:0001985"}],"interesting_parent_ids":["FYPO:0000002","FYPO:0006551","FYPO:0001985","FYPO:0005447"],"is_obsolete":false,"name":"decreased protein level during meiotic interphase","synonyms":[{"name":"decreased protein accumulation during meiotic interphase","type":"related"},{"name":"decreased protein level during interphase of meiotic cell cycle","type":"exact"},{"name":"reduced protein level during meiotic interphase","type":"exact"}],"termid":"FYPO:0004992"}


id: GO:0009935
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. The directed movement of nutrients into a cell or organelle.","definition_xrefs":["GOC:sm"],"gene_count":0,"genotype_count":0,"name":"obsolete nutrient import (obsolete GO:0009935)","synonyms":[{"name":"nutrient import","type":"exact"},{"name":"nutrient uptake","type":"exact"}],"termid":"GO:0009935"}


id: PR:Q9UT72
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- rfp2 gene.","definition_xrefs":["PRO:DNx","UniProtKB:Q9UT72"],"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":"E3 ubiquitin-protein ligase complex slx8-rfp subunit rfp2 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAC343.18","synonyms":[{"name":"RING finger protein 2 (Schizosaccharomyces pombe 972h-)","type":"exact"},{"name":"Spom972h-rfp2","type":"exact"}],"termid":"PR:Q9UT72"}


id: MONDO:0009763
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Hypoventilation syndrome in very obese persons with excessive adipose tissue around the abdomen and diaphragm is characterized by diminished to absent ventilatory chemoresponsiveness; chronic hypoxia; hypercapnia; polycythemia; and long periods of sleep during day and night (hypersomnolence). It is a condition often related to obstructive sleep apnea but can occur separately.","definition_xrefs":["MESH:D010845"],"direct_ancestors":[{"relation_name":"is_a","term_name":"hereditary disease","termid":"MONDO:0003847"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"obesity-hypoventilation syndrome","secondary_identifiers":["SCTID:190966007","UMLS:C0031880","OMIM:257500","MEDGEN:18472","NANDO:1200752","ICD9:786.09","EFO:1001382"],"synonyms":[{"name":"Pickwickian syndrome","type":"related"},{"name":"obesity-hypoventilation syndrome","type":"exact"}],"termid":"MONDO:0009763","xrefs":{"Monarch":{"xref_id":"0009763"}}}


id: GO:0005601
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"A heterodimeric protein complex that catalyzes the cleavage of complement components C3 and C5, and acts in the classical pathway of complement activation; consists of one monomer of C2a and one monomer of C4b; C2a is the catalytic subunit, but cannot catalyze cleavage alone.","definition_xrefs":["GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"catalytic complex","termid":"GO:1902494"},{"relation_name":"part_of","term_name":"extracellular space","termid":"GO:0005615"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0032991"},{"rel_name":"is_a","termid":"GO:0005575"},{"rel_name":"part_of","termid":"GO:0005576"}],"interesting_parent_ids":["GO:0005575","GO:0005576","GO:0032991"],"is_obsolete":false,"name":"classical-complement-pathway C3/C5 convertase complex","termid":"GO:0005601"}


id: PBO:0064039
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"piwi-interacting RNA cluster 73","termid":"PBO:0064039"}


id: PBO:0030150
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-resistance_to_diethyl_maleate","termid":"PBO:0030150"}


id: GO:0034228
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Enables the transfer of ethanolamine from one side of a membrane to the other. Ethanolamine (2-aminoethanol, monoethanolamine) is an amino alcohol that occurs widely in living organisms as a constituent of certain types of phospholipids, such as phosphatidylethanolamine.","definition_xrefs":["GOC:rn","PMID:3514579"],"direct_ancestors":[{"relation_name":"is_a","term_name":"amine transmembrane transporter activity","termid":"GO:0005275"},{"relation_name":"is_a","term_name":"organic cation transmembrane transporter activity","termid":"GO:0015101"},{"relation_name":"is_a","term_name":"alcohol transmembrane transporter activity","termid":"GO:0015665"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0022857"},{"rel_name":"is_a","termid":"GO:0005215"}],"interesting_parent_ids":["GO:0022857","GO:0003674","GO:0005215"],"is_obsolete":false,"name":"ethanolamine transmembrane transporter activity","secondary_identifiers":["MetaCyc:TRANS-RXN0-476"],"synonyms":[{"name":"2-aminoethanol transmembrane transporter activity","type":"exact"},{"name":"ethanolamine permease activity","type":"exact"},{"name":"monoethanolamine transmembrane transporter activity","type":"exact"}],"termid":"GO:0034228"}


id: PBO:0044606
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"DDB1 and CUL4 associated factor 12","termid":"PBO:0044606"}


id: GO:1903406
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of sodium:potassium-exchanging ATPase activity.","definition_xrefs":["GOC:mr","GOC:TermGenie","GO_REF:0000059","PMID:8160880"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of ATP-dependent activity","termid":"GO:0043462"},{"relation_name":"is_a","term_name":"regulation of potassium ion transmembrane transporter activity","termid":"GO:1901016"},{"relation_name":"is_a","term_name":"regulation of sodium ion transmembrane transporter activity","termid":"GO:2000649"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"regulates","termid":"GO:0006810"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"regulates","termid":"GO:0055085"}],"interesting_parent_ids":["GO:0008150","GO:0055085","GO:0006810"],"is_obsolete":false,"name":"regulation of P-type sodium:potassium-exchanging transporter activity","synonyms":[{"name":"regulation of (Na+ + K+)-ATPase activity","type":"exact"},{"name":"regulation of (Na+ + K+)-activated ATPase activity","type":"exact"},{"name":"regulation of ATP phosphohydrolase (Na+/K+-exchanging)","type":"exact"},{"name":"regulation of Na(+)/K(+)-ATPase activity","type":"exact"},{"name":"regulation of Na(+)/K(+)-exchanging ATPase activity","type":"exact"},{"name":"regulation of Na+,K+ pump","type":"related"},{"name":"regulation of Na+,K+-ATPase activity","type":"exact"},{"name":"regulation of Na+/K+-ATPase activity","type":"exact"},{"name":"regulation of Na+/K+-exchanging ATPase activity","type":"exact"},{"name":"regulation of Na,K-activated ATPase activity","type":"exact"},{"name":"regulation of Na,K-pump","type":"related"},{"name":"regulation of sodium pump","type":"broad"},{"name":"regulation of sodium/potassium-exchanging ATPase activity","type":"exact"},{"name":"regulation of sodium/potassium-transporting ATPase activity","type":"exact"},{"name":"regulation of sodium:potassium exchanging ATPase activity","type":"exact"},{"name":"regulation of sodium:potassium-exchanging ATPase activity","type":"exact"}],"termid":"GO:1903406"}


id: PBO:0029656
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-normal_premeiotic_DNA_replication","termid":"PBO:0029656"}


id: GO:0045954
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that activates or increases the frequency, rate or extent of natural killer cell mediated cytotoxicity.","definition_xrefs":["ISBN:0781735149","GOC:add"],"direct_ancestors":[{"relation_name":"is_a","term_name":"positive regulation of leukocyte mediated cytotoxicity","termid":"GO:0001912"},{"relation_name":"is_a","term_name":"positive regulation of natural killer cell mediated immunity","termid":"GO:0002717"},{"relation_name":"is_a","term_name":"regulation of natural killer cell mediated cytotoxicity","termid":"GO:0042269"},{"relation_name":"positively_regulates","term_name":"natural killer cell mediated cytotoxicity","termid":"GO:0042267"}],"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 natural killer cell mediated cytotoxicity","synonyms":[{"name":"activation of natural killer cell mediated cytotoxicity","type":"narrow"},{"name":"positive regulation of NK cell mediated cell death","type":"exact"},{"name":"positive regulation of NK cell mediated cell killing","type":"exact"},{"name":"positive regulation of NK cell mediated cytolysis","type":"related"},{"name":"positive regulation of NK cell mediated cytotoxicity","type":"exact"},{"name":"positive regulation of natural killer cell mediated cell death","type":"exact"},{"name":"positive regulation of natural killer cell mediated cell killing","type":"exact"},{"name":"positive regulation of natural killer cell mediated cytolysis","type":"related"},{"name":"stimulation of natural killer cell mediated cytotoxicity","type":"narrow"},{"name":"up regulation of natural killer cell mediated cytotoxicity","type":"exact"},{"name":"up-regulation of natural killer cell mediated cytotoxicity","type":"exact"},{"name":"upregulation of natural killer cell mediated cytotoxicity","type":"exact"}],"termid":"GO:0045954"}


id: PBO:0088966
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"CENP-L ortholog Fta1","termid":"PBO:0088966"}


id: SO:0000179
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"The start of the clone insert.","definition_xrefs":["SO:ke"],"direct_ancestors":[{"relation_name":"is_a","term_name":"junction","termid":"SO:0000699"},{"relation_name":"part_of","term_name":"clone_insert","termid":"SO:0000753"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"clone_insert_start","synonyms":[{"name":"clone insert start","type":"exact"}],"termid":"SO:0000179"}


id: GO:0033013
data:
  {"annotated_genes":["SJAG_01155","SJAG_01372","SJAG_00097","SJAG_05283","SJAG_00366","SJAG_03173","SJAG_02876","SJAG_00699","SJAG_03862","SJAG_04515","SJAG_04109","SJAG_02896","SJAG_01192","SJAG_00626","SJAG_04984","SJAG_04944","SJAG_01786","SJAG_03961","SJAG_01841","SJAG_04397"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[78723,80413],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0006784"},{"annotations":[105565,101454,112262,98582,100605,74719,114263],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0006783"},{"annotations":[106975],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0042167"},{"annotations":[60294,63182,57244,64868,59216,80283,67811,63044],"is_not":false,"rel_names":["part_of","is_a"],"summary":null,"term":"GO:0006782"},{"annotations":[77161,71779],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0019354"},{"annotations":[75150],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0006780"}]},"cv_name":"biological_process","definition":"The chemical reactions and pathways involving tetrapyrroles, natural pigments containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next.","definition_xrefs":["GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"metabolic process","termid":"GO:0008152"}],"gene_count":20,"genes_by_uniquename":{"SJAG_00097":null,"SJAG_00366":null,"SJAG_00626":null,"SJAG_00699":null,"SJAG_01155":null,"SJAG_01192":null,"SJAG_01372":null,"SJAG_01786":null,"SJAG_01841":null,"SJAG_02876":null,"SJAG_02896":null,"SJAG_03173":null,"SJAG_03862":null,"SJAG_03961":null,"SJAG_04109":null,"SJAG_04397":null,"SJAG_04515":null,"SJAG_04944":null,"SJAG_04984":null,"SJAG_05283":null},"genotype_count":0,"in_subsets":["bp_goslim_japonicus"],"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"tetrapyrrole metabolic process","references_by_uniquename":{"GO_REF:0000033":null,"GO_REF:0000041":null,"GO_REF:0000107":null},"synonyms":[{"name":"tetrapyrrole metabolism","type":"exact"}],"termid":"GO:0033013","terms_by_termid":{"GO:0006780":null,"GO:0006782":null,"GO:0006783":null,"GO:0006784":null,"GO:0019354":null,"GO:0042167":null}}


id: PBO:0084147
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"High-affinity leucine permease; functions as a branched-chain amino acid permease involved in uptake of leucine, isoleucine and valine; contains 12 predicted transmembrane domains; BAP2 has a paralog, BAP3, that arose from the whole genome duplication","termid":"PBO:0084147"}


id: GO:1903763
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Any gap junction channel activity that is involved in cell communication by electrical coupling.","definition_xrefs":["GOC:BHF","PMID:24587307","GO_REF:0000061","GOC:mtg_cardiac_conduct_nov11","GOC:rl","GOC:TermGenie"],"direct_ancestors":[{"relation_name":"is_a","term_name":"gap junction channel activity","termid":"GO:0005243"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0022857"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0005215"}],"interesting_parent_ids":["GO:0005215","GO:0022857","GO:0003674"],"is_obsolete":false,"name":"gap junction channel activity involved in cell communication by electrical coupling","synonyms":[{"name":"connexin involved in cell communication by electrical coupling","type":"related"},{"name":"innexin channel activity involved in cell communication by electrical coupling","type":"exact"},{"name":"innexin involved in cell communication by electrical coupling","type":"narrow"}],"termid":"GO:1903763"}


id: MONDO:1011521
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Hemophilia A that occurs in dog.","definition_xrefs":["MONDO:patterns/nonhuman_disease"],"direct_ancestors":[{"relation_name":"is_a","term_name":"hemophilia A, non-human animal","termid":"MONDO:1011408"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"hemophilia A, dog","secondary_identifiers":["OMIA:000437-9615"],"termid":"MONDO:1011521","xrefs":{"Monarch":{"xref_id":"1011521"}}}


id: PBO:0060086
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  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"MT-ND5 pseudogene 33","termid":"PBO:0060086"}


id: MONDO:0001050
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes.","definition_xrefs":["DOID:10516"],"direct_ancestors":[{"relation_name":"is_a","term_name":"otitis externa","termid":"MONDO:0004795"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"malignant otitis externa","secondary_identifiers":["SCTID:94146005","ICD10CM:H60.2","ICD9:380.14","UMLS:C0155395","icd11.foundation:984580942","MEDGEN:509950"],"termid":"MONDO:0001050","xrefs":{"Monarch":{"xref_id":"0001050"}}}


id: MONDO:0005039
data:
  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disorder","type":"exact"}],"termid":"MONDO:0005039","terms_by_termid":{"MONDO:0008840":null,"MONDO:0008980":null,"MONDO:0009050":null,"MONDO:0009258":null,"MONDO:0009461":null,"MONDO:0009514":null,"MONDO:0009916":null,"MONDO:0010350":null,"MONDO:0010767":null,"MONDO:0010814":null,"MONDO:0010961":null,"MONDO:0011503":null,"MONDO:0011720":null,"MONDO:0011962":null,"MONDO:0012794":null,"MONDO:0013310":null,"MONDO:0013689":null,"MONDO:0013722":null,"MONDO:0013872":null,"MONDO:0013901":null,"MONDO:0013972":null,"MONDO:0014126":null,"MONDO:0014321":null,"MONDO:0014497":null,"MONDO:0014686":null,"MONDO:0014843":null,"MONDO:0014961":null,"MONDO:0020837":null,"MONDO:0021573":null,"MONDO:0024773":null,"MONDO:0030507":null,"MONDO:0030515":null,"MONDO:0030733":null,"MONDO:0030736":null,"MONDO:0030787":null,"MONDO:0030869":null,"MONDO:0030870":null,"MONDO:0030925":null,"MONDO:0032747":null,"MONDO:0054725":null,"MONDO:0054726":null,"MONDO:0054732":null,"MONDO:0054850":null,"MONDO:0054862":null,"MONDO:0859330":null,"MONDO:0859521":null,"MONDO:0957961":null,"MONDO:0958035":null,"MONDO:8000015":null},"xrefs":{"Monarch":{"xref_id":"0005039"}}}


id: GO:0030757
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: 3',4',5,7-tetrahydroxy-3-methoxyflavone + S-adenosyl-L-methionine(1+) = 3',4',5-trihydroxy-3,7-dimethoxyflavone + S-adenosyl-L-homocysteine.","definition_xrefs":["RHEA:16181","EC:2.1.1.82"],"direct_ancestors":[{"relation_name":"is_a","term_name":"S-adenosylmethionine-dependent methyltransferase activity","termid":"GO:0008757"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0016741"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0016740"}],"interesting_parent_ids":["GO:0016740","GO:0003824","GO:0016741","GO:0003674"],"is_obsolete":false,"name":"3-methylquercitin 7-O-methyltransferase activity","secondary_identifiers":["MetaCyc:2.1.1.82-RXN","KEGG_REACTION:R05323"],"synonyms":[{"name":"3-methylquercetin 7-O-methyltransferase activity","type":"related"},{"name":"7-OMT activity","type":"related"},{"name":"S-adenosyl-L-methionine:3',4',5,7-tetrahydroxy-3-methoxyflavone 7-O-methyltransferase activity","type":"related"},{"name":"S-adenosyl-L-methionine:5,7,3',4'-tetrahydroxy-3-methoxyflavone 7-O-methyltransferase activity","type":"related"},{"name":"flavonol 7-O-methyltransferase activity","type":"related"},{"name":"flavonol 7-methyltransferase activity","type":"related"}],"termid":"GO:0030757"}


id: MONDO:0016469
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Ehlers-Danlos, vascular-like type is an adult-onset form of Ehlers-Danlos syndrome characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries.","definition_xrefs":["Orphanet:230845"],"direct_ancestors":[{"relation_name":"is_a","term_name":"vascular disorder","termid":"MONDO:0005385"},{"relation_name":"is_a","term_name":"Ehlers-Danlos syndrome","termid":"MONDO:0020066"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Ehlers-Danlos syndrome, vascular-like type","secondary_identifiers":["icd11.foundation:240424885","SCTID:720862007"],"synonyms":[{"name":"EDS, vascular-like type","type":"exact"}],"termid":"MONDO:0016469","xrefs":{"Monarch":{"xref_id":"0016469"}}}


id: PBO:0063907
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"phosphoinositide-3-kinase adaptor protein 1","termid":"PBO:0063907"}


id: PBO:0067462
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, 7SL, cytoplasmic 587, pseudogene","termid":"PBO:0067462"}


id: GO:0003774
data:
  {"annotated_genes":["SJAG_02431","SJAG_03011","SJAG_00930","SJAG_02336","SJAG_00773","SJAG_00938","SJAG_04745","SJAG_00332","SJAG_00031","SJAG_01546","SJAG_02286","SJAG_02848","SJAG_02384","SJAG_00042","SJAG_03703","SJAG_01613","SJAG_01297","SJAG_00851","SJAG_04001"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[105027],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0061791"},{"annotations":[103134,100328],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1990606"},{"annotations":[71330,74774,77019,70382,79987],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0000146"},{"annotations":[61488],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0003777"},{"annotations":[97133,66493,95144,99597],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0008569"},{"annotations":[108649,79260,103915,76132,76302,78199,104115],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0008574"}]},"cv_name":"molecular_function","definition":"Generation of force resulting in movement, for example along a microfilament or microtubule, or in torque resulting in membrane scission or rotation of a flagellum. The energy required is obtained either from the hydrolysis of a nucleoside triphosphate or by an electrochemical proton gradient (proton-motive force).","definition_xrefs":["PMID:11242086","GOC:mah","PMID:29716949","GOC:vw"],"direct_ancestors":[{"relation_name":"is_a","term_name":"molecular_function","termid":"GO:0003674"}],"gene_count":19,"genes_by_uniquename":{"SJAG_00031":null,"SJAG_00042":null,"SJAG_00332":null,"SJAG_00773":null,"SJAG_00851":null,"SJAG_00930":null,"SJAG_00938":null,"SJAG_01297":null,"SJAG_01546":null,"SJAG_01613":null,"SJAG_02286":null,"SJAG_02336":null,"SJAG_02384":null,"SJAG_02431":null,"SJAG_02848":null,"SJAG_03011":null,"SJAG_03703":null,"SJAG_04001":null,"SJAG_04745":null},"genotype_count":0,"in_subsets":["mf_goslim_japonicus"],"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0003674"],"is_obsolete":false,"name":"cytoskeletal motor activity","references_by_uniquename":{"GO_REF:0000002":null,"GO_REF:0000033":null,"GO_REF:0000107":null},"secondary_identifiers":["Reactome:R-HSA-1861595"],"synonyms":[{"name":"motor activity","type":"broad"}],"termid":"GO:0003774","terms_by_termid":{"GO:0000146":null,"GO:0003777":null,"GO:0008569":null,"GO:0008574":null,"GO:0061791":null,"GO:1990606":null}}


id: PBO:0083746
data:
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id: PBO:0059490
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  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"MSS51 mitochondrial translational activator","termid":"PBO:0059490"}


id: GO:0072066
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  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process whose specific outcome is the progression of the prebend segment over time, from its formation to the mature structure. The prebend segment is a part of the descending thin limb that lies before the bend and exhibits permeabilities characteristic of the ascending limb, especially negligible water permeability.","definition_xrefs":["GOC:mtg_kidney_jan10"],"direct_ancestors":[{"relation_name":"is_a","term_name":"tube development","termid":"GO:0035295"},{"relation_name":"part_of","term_name":"descending thin limb development","termid":"GO:0072022"}],"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":"prebend segment development","termid":"GO:0072066"}


id: GO:0045430
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  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: a chalcone = a flavanone.","definition_xrefs":["EC:5.5.1.6"],"direct_ancestors":[{"relation_name":"is_a","term_name":"intramolecular lyase activity","termid":"GO:0016872"}],"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:0016853"}],"interesting_parent_ids":["GO:0003674","GO:0016853","GO:0003824"],"is_obsolete":false,"name":"chalcone isomerase activity","secondary_identifiers":["MetaCyc:CHALCONE-ISOMERASE-RXN"],"synonyms":[{"name":"chalcone--flavonone isomerase activity","type":"related"},{"name":"chalcone-flavanone isomerase activity","type":"exact"},{"name":"flavanone lyase (decyclizing)","type":"related"}],"termid":"GO:0045430"}


id: GO:2000570
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  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that activates or increases the frequency, rate or extent of T-helper 2 cell activation.","definition_xrefs":["GOC:obol"],"direct_ancestors":[{"relation_name":"is_a","term_name":"positive regulation of CD4-positive, alpha-beta T cell activation","termid":"GO:2000516"},{"relation_name":"is_a","term_name":"regulation of T-helper 2 cell activation","termid":"GO:2000569"},{"relation_name":"positively_regulates","term_name":"T-helper 2 cell activation","termid":"GO:0035712"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"positively_regulates","termid":"GO:0007155"},{"rel_name":"regulates","termid":"GO:0007155"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150","GO:0007155"],"is_obsolete":false,"name":"positive regulation of T-helper 2 cell activation","synonyms":[{"name":"positive regulation of Th2 cell activation","type":"exact"}],"termid":"GO:2000570"}


id: PBO:0013445
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"exocyst complex subunit Sec10","termid":"PBO:0013445"}


id: MONDO:1010459
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Hypertrophic cardiomyopathy that occurs in domestic cat.","definition_xrefs":["MONDO:patterns/nonhuman_disease"],"direct_ancestors":[{"relation_name":"is_a","term_name":"hypertrophic cardiomyopathy, non-human animal","termid":"MONDO:1010015"},{"relation_name":"is_a","term_name":"cardiomyopathy, domestic cat","termid":"MONDO:1010442"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"hypertrophic cardiomyopathy, domestic cat","secondary_identifiers":["OMIA:000515-9685"],"termid":"MONDO:1010459","xrefs":{"Monarch":{"xref_id":"1010459"}}}


id: MONDO:0021108
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord.","definition_xrefs":["NCIT:C26828"],"direct_ancestors":[{"relation_name":"is_a","term_name":"encephalomyelitis","termid":"MONDO:0005156"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"meningitis","secondary_identifiers":["ICD9:322.9","MEDGEN:6298","MESH:D008581","SCTID:7180009","UMLS:C0025289"],"synonyms":[{"name":"inflammation of meninx","type":"exact"},{"name":"meningitis","type":"exact"},{"name":"meningitis (disease)","type":"exact"},{"name":"meninx inflammation","type":"exact"}],"termid":"MONDO:0021108","xrefs":{"Monarch":{"xref_id":"0021108"}}}


id: GO:0035725
data:
  {"annotated_genes":["SJAG_04616","SJAG_04167","SJAG_01541","SJAG_04028"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[61354,67630,89672],"is_not":false,"summary":null,"term":"GO:0035725"},{"annotations":[67278],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0036376"}]},"cv_name":"biological_process","definition":"A process in which a sodium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore.","definition_xrefs":["GOC:vw"],"direct_ancestors":[{"relation_name":"is_a","term_name":"sodium ion transport","termid":"GO:0006814"},{"relation_name":"is_a","term_name":"monoatomic cation transmembrane transport","termid":"GO:0098655"},{"relation_name":"is_a","term_name":"inorganic cation transmembrane transport","termid":"GO:0098662"}],"gene_count":4,"genes_by_uniquename":{"SJAG_01541":null,"SJAG_04028":null,"SJAG_04167":null,"SJAG_04616":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0006810"},{"rel_name":"is_a","termid":"GO:0055085"},{"rel_name":"is_a","termid":"GO:0051179"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0006810","GO:0008150","GO:0055085","GO:0051179"],"is_obsolete":false,"name":"sodium ion transmembrane transport","references_by_uniquename":{"GO_REF:0000002":null,"GO_REF:0000107":null,"GO_REF:0000108":null},"synonyms":[{"name":"sodium ion membrane transport","type":"exact"}],"termid":"GO:0035725","terms_by_termid":{"GO:0035725":null,"GO:0036376":null}}


id: MONDO:0003891
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A signet ring cell carcinoma that involves the urinary bladder.","definition_xrefs":["MONDO:patterns/location"],"direct_ancestors":[{"relation_name":"is_a","term_name":"bladder adenocarcinoma","termid":"MONDO:0002751"},{"relation_name":"is_a","term_name":"signet ring cell carcinoma","termid":"MONDO:0005092"}],"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":"bladder signet ring cell adenocarcinoma","secondary_identifiers":["DOID:6481","MEDGEN:231949","NCIT:C6163","UMLS:C1332563"],"synonyms":[{"name":"bladder signet ring cell adenocarcinoma","type":"exact"},{"name":"signet Ring cell adenocarcinoma of bladder","type":"related"},{"name":"signet Ring cell adenocarcinoma of the bladder","type":"related"},{"name":"signet Ring cell adenocarcinoma of the urinary bladder","type":"related"},{"name":"signet Ring cell adenocarcinoma of urinary bladder","type":"related"},{"name":"signet ring cell adenocarcinoma of bladder","type":"related"},{"name":"urinary bladder signet Ring adenocarcinoma","type":"exact"},{"name":"urinary bladder signet ring cell carcinoma","type":"exact"}],"termid":"MONDO:0003891","xrefs":{"Monarch":{"xref_id":"0003891"}}}


id: GO:0018263
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. The formation of an isopeptide cross-link between peptidyl-asparagine and peptidyl-cysteine to produce N-(L-isoaspartyl)-L-cysteine.","definition_xrefs":["RESID:AA0216"],"gene_count":0,"genotype_count":0,"name":"obsolete isopeptide cross-linking via N-(L-isoaspartyl)-L-cysteine (obsolete GO:0018263)","termid":"GO:0018263"}


id: MONDO:0009362
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.","definition_xrefs":["Orphanet:3035"],"direct_ancestors":[{"relation_name":"is_a","term_name":"syndromic disease","termid":"MONDO:0002254"},{"relation_name":"is_a","term_name":"respiratory system disorder","termid":"MONDO:0005087"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"growth delay-hydrocephaly-lung hypoplasia syndrome","secondary_identifiers":["GARD:2427","MESH:C535406","SCTID:716198008","UMLS:C1856052","OMIM:236640","MEDGEN:344639"],"synonyms":[{"name":"game Friedman Paradice syndrome","type":"related"},{"name":"game-Friedman-Paradice syndrome","type":"exact"},{"name":"hydrocephalus with associated malformations","type":"related"},{"name":"retarded growth, hydrocephalus, micrognathia, intestinal malrotation, omphalocele, short lower limbs and foot deformities","type":"related"}],"termid":"MONDO:0009362","xrefs":{"Monarch":{"xref_id":"0009362"}}}


id: GO:0016137
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways involving glycosides, compounds in which a glycosyl group is substituted into a hydroxyl, thiol or selenol group in another compound.","definition_xrefs":["ISBN:0198547684"],"direct_ancestors":[{"relation_name":"is_a","term_name":"glycosyl compound metabolic process","termid":"GO:1901657"}],"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":"glycoside metabolic process","secondary_identifiers":["GO:0016140"],"synonyms":[{"name":"O-glycoside metabolic process","type":"exact"},{"name":"O-glycoside metabolism","type":"exact"},{"name":"glycoside metabolism","type":"exact"}],"termid":"GO:0016137"}


