# terms

id: MONDO:0006123
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on tumor location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis.","definition_xrefs":["NCIT:P378"],"direct_ancestors":[{"relation_name":"is_a","term_name":"benign neoplasm of heart","termid":"MONDO:0021450"},{"relation_name":"is_a","term_name":"rhabdomyoma","termid":"MONDO:0036688"}],"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":"cardiac rhabdomyoma","secondary_identifiers":["HP:0009729","MEDGEN:232027","EFO:1000150","UMLS:C1332852","NCIT:C6739"],"synonyms":[{"name":"cardiac rhabdomyoma","type":"exact"},{"name":"cardiac rhabdomyoma (disease)","type":"exact"},{"name":"heart rhabdomyoma","type":"exact"},{"name":"rhabdomyoma of heart","type":"exact"},{"name":"rhabdomyoma of the heart","type":"exact"}],"termid":"MONDO:0006123","xrefs":{"Monarch":{"xref_id":"0006123"}}}


id: GO:0043454
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the breakdown of an alkyne, any acyclic branched or unbranched hydrocarbon (compound composed only of carbon and hydrogen) having a carbon-carbon triple bond and the general formula CnH2n-2.","definition_xrefs":["GOC:krc","GOC:jl","Wikipedia:Alkyne"],"direct_ancestors":[{"relation_name":"is_a","term_name":"alkyne metabolic process","termid":"GO:0043452"},{"relation_name":"is_a","term_name":"acetylenic compound catabolic process","termid":"GO:0120248"},{"relation_name":"is_a","term_name":"hydrocarbon catabolic process","termid":"GO:0120253"}],"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":"alkyne catabolic process","synonyms":[{"name":"alkyne breakdown","type":"exact"},{"name":"alkyne catabolism","type":"exact"},{"name":"alkyne degradation","type":"exact"}],"termid":"GO:0043454"}


id: MONDO:0800339
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"myotonic syndrome","termid":"MONDO:0016120"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"laryngospasm, severe neonatal episodic","secondary_identifiers":["MEDGEN:460867","UMLS:C3149517"],"synonyms":[{"name":"SNEL","type":"exact"}],"termid":"MONDO:0800339","xrefs":{"Monarch":{"xref_id":"0800339"}}}


id: MONDO:0043103
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition.","definition_xrefs":["NCIT:C121747"],"direct_ancestors":[{"relation_name":"is_a","term_name":"congenital hypothyroidism","termid":"MONDO:0018612"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"hypothyroidism due to iodide transport defect","secondary_identifiers":["UMLS:C0271826","GARD:2938","MEDGEN:124412","SCTID:22558005"],"synonyms":[{"name":"hypothyroidism due to iodide concentration defect","type":"related"},{"name":"hypothyroidism due to iodide transport defect","type":"exact"},{"name":"iodide Transport defect","type":"exact"},{"name":"iodide transport defect","type":"exact"},{"name":"iodide transport failure","type":"related"},{"name":"iodine accumulation defect","type":"related"},{"name":"iodine transport defect","type":"related"}],"termid":"MONDO:0043103","xrefs":{"Monarch":{"xref_id":"0043103"}}}


id: GO:0010270
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The aggregation, arrangement and bonding together of a set of components to form the oxygen evolving complex (OEC) of photosystem II on a thylakoid membrane. The OEC protects the calcium-4 manganese-5 oxide cluster which is bound to the D1 and CP43 proteins. The exact protein composition of the OEC varies between cyanobacteria and plants, and in plants consists of three extrinsic nuclear-encoded polypeptides: PsbO, PsbP and PsbQ.","definition_xrefs":["PMID:16282331","GOC:aa"],"direct_ancestors":[{"relation_name":"is_a","term_name":"photosystem II assembly","termid":"GO:0010207"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0065003"},{"rel_name":"part_of","termid":"GO:0006091"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"part_of","termid":"GO:0044085"}],"interesting_parent_ids":["GO:0006091","GO:0008150","GO:0044085","GO:0065003"],"is_obsolete":false,"name":"photosystem II oxygen evolving complex assembly","synonyms":[{"name":"OEC (PSII) ASSEMBLY","type":"exact"}],"termid":"GO:0010270"}


id: PBO:0065426
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"proteasome subunit beta 11","termid":"PBO:0065426"}


id: PBO:0089864
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"gamma tubulin complex GCP5 subunit Mod21","termid":"PBO:0089864"}


id: MONDO:0012594
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"complement deficiency","termid":"MONDO:0003832"}],"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":"complement factor I deficiency","secondary_identifiers":["GARD:17098","OMIM:610984","NANDO:2200790","Orphanet:200418","DOID:0050419","MESH:C572568","MEDGEN:483045","NANDO:2200798","UMLS:C3463916"],"synonyms":[{"name":"C3 inactivator deficiency","type":"exact"},{"name":"CFID","type":"related"},{"name":"complement Factor 1 deficiency","type":"related"},{"name":"complement component 3 inactivator deficiency","type":"exact"},{"name":"complement factor I deficiency","type":"exact"},{"name":"immunodeficiency with factor I anomaly","type":"related"}],"termid":"MONDO:0012594","xrefs":{"Monarch":{"xref_id":"0012594"}}}


id: FYPO:0007284
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 localization of a protein to the non-growing cell tip is normal (i.e. indistinguishable from wild type).","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"normal protein localization to cell tip during vegetative growth","termid":"FYPO:0001587"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0000257"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0001312"},{"rel_name":"is_a","termid":"FYPO:0000138"}],"interesting_parent_ids":["FYPO:0000257","FYPO:0000002","FYPO:0000138","FYPO:0001320","FYPO:0001312"],"is_obsolete":false,"name":"normal protein localization to non-growing cell tip","synonyms":[{"name":"normal protein localisation to non-growing cell tip","type":"exact"},{"name":"normal protein localization to non-growing cell end","type":"exact"},{"name":"normal protein localization to non-growing cell tip during mitotic cell cycle","type":"related"},{"name":"normal protein localization to non-growing cell tip during vegetative growth","type":"exact"}],"termid":"FYPO:0007284"}


id: GO:0033844
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the elimination of sulfate from the D-galactose 6-sulfate residues of porphyran, producing 3,6-anhydrogalactose residues.","definition_xrefs":["EC:2.5.1.5"],"direct_ancestors":[{"relation_name":"is_a","term_name":"transferase activity, transferring alkyl or aryl (other than methyl) groups","termid":"GO:0016765"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0016765"},{"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:0003824","GO:0016740","GO:0016765","GO:0003674"],"is_obsolete":false,"name":"galactose-6-sulfurylase activity","secondary_identifiers":["MetaCyc:2.5.1.5-RXN"],"synonyms":[{"name":"D-galactose-6-sulfate:alkyltransferase (cyclizing) activity","type":"related"},{"name":"galactose 6-sulfatase activity","type":"related"},{"name":"galactose-6-sulfatase activity","type":"related"},{"name":"porphyran sulfatase activity","type":"related"}],"termid":"GO:0033844"}


id: PBO:0045698
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"dynein light chain Tctex-type 3 pseudogene 2","termid":"PBO:0045698"}


id: PBO:0039801
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"apoptosis resistant E3 ubiquitin protein ligase 1","termid":"PBO:0039801"}


id: MONDO:0007422
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"integumentary system disorder","termid":"MONDO:0002051"},{"relation_name":"is_a","term_name":"hereditary disease","termid":"MONDO:0003847"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"keratoderma hereditarium mutilans","secondary_identifiers":["OMIM:124500","SCTID:24559001","ICD9:757.39","MEDGEN:78579","Orphanet:494","DOID:0111339","GARD:3092","MESH:C536457","UMLS:C0265964"],"synonyms":[{"name":"KHM","type":"related"},{"name":"PPK mutilans and deafness","type":"exact"},{"name":"VOWNKL","type":"related"},{"name":"Vohwinkel syndrome","type":"exact"},{"name":"deafness, congenital, with KERATOPACHYDERMIA and constrictions of fingers and toes","type":"related"},{"name":"keratoderma hereditarium mutilans","type":"exact"},{"name":"mutilating keratoderma","type":"related"},{"name":"mutilating keratoderma of Vohwinkel","type":"exact"},{"name":"mutilating keratoderma plus deafness","type":"exact"}],"termid":"MONDO:0007422","xrefs":{"Monarch":{"xref_id":"0007422"}}}


id: PBO:0078025
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"T cell receptor alpha joining 15","termid":"PBO:0078025"}


id: GO:0004826
data:
  {"annotated_genes":["SJAG_03626","SJAG_02206","SJAG_02615"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[77934,79044,79248],"is_not":false,"summary":null,"term":"GO:0004826"}]},"cv_name":"molecular_function","definition":"Catalysis of the reaction: ATP + L-phenylalanine + tRNA(Phe) = AMP + diphosphate + L-phenylalanyl-tRNA(Phe).","definition_xrefs":["EC:6.1.1.20"],"direct_ancestors":[{"relation_name":"is_a","term_name":"aminoacyl-tRNA ligase activity","termid":"GO:0004812"}],"gene_count":3,"genes_by_uniquename":{"SJAG_02206":null,"SJAG_02615":null,"SJAG_03626":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:0140098"},{"rel_name":"is_a","termid":"GO:0140101"},{"rel_name":"is_a","termid":"GO:0003824"}],"interesting_parent_ids":["GO:0140098","GO:0016874","GO:0003674","GO:0003824","GO:0140101"],"is_obsolete":false,"name":"phenylalanine-tRNA ligase activity","references_by_uniquename":{"GO_REF:0000033":null},"secondary_identifiers":["Reactome:R-HSA-379848","Reactome:R-HSA-380203","MetaCyc:PHENYLALANINE--TRNA-LIGASE-RXN","RHEA:19413"],"synonyms":[{"name":"L-phenylalanine:tRNAPhe ligase (AMP-forming) activity","type":"related"},{"name":"L-phenylalanyl-tRNA synthetase activity","type":"related"},{"name":"phenylalanine translase activity","type":"related"},{"name":"phenylalanine-tRNA synthetase activity","type":"related"},{"name":"phenylalanyl-tRNA ligase activity","type":"related"},{"name":"phenylalanyl-tRNA synthetase activity","type":"exact"},{"name":"phenylalanyl-transfer RNA ligase activity","type":"related"},{"name":"phenylalanyl-transfer RNA synthetase activity","type":"related"},{"name":"phenylalanyl-transfer ribonucleate synthetase activity","type":"related"}],"termid":"GO:0004826","terms_by_termid":{"GO:0004826":null}}


id: PBO:0116782
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"WDR81 antisense RNA 1","termid":"PBO:0116782"}


id: PBO:0050785
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"5-hydroxytryptamine receptor 2B","termid":"PBO:0050785"}


id: FYPO:0005552
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 localization of a protein to the cleavage furrow rim is decreased. The rim is the part of the cleavage furrow closest to the contractile ring.","definition_xrefs":["PomBase:mah","PMID:27082518"],"direct_ancestors":[{"relation_name":"is_a","term_name":"decreased protein localization to cleavage furrow","termid":"FYPO:0005551"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"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"},{"rel_name":"is_a","termid":"FYPO:0005447"}],"interesting_parent_ids":["FYPO:0000138","FYPO:0001985","FYPO:0005447","FYPO:0001320","FYPO:0000002"],"is_obsolete":false,"name":"decreased protein localization to cleavage furrow rim","synonyms":[{"name":"decreased protein localisation to cleavage furrow rim","type":"exact"},{"name":"decreased protein localization to cleavage furrow rim during mitotic cell cycle","type":"related"},{"name":"decreased protein localization to cleavage furrow rim during vegetative growth","type":"exact"},{"name":"reduced protein localization to cleavage furrow rim","type":"exact"}],"termid":"FYPO:0005552"}


id: GO:0052129
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The directed movement of a motile cell or organism towards a lower level of a physical stimulus involved in energy generation, such as light, oxygen, and oxidizable substrates.","definition_xrefs":["GOC:mtg_pamgo_17jul06"],"direct_ancestors":[{"relation_name":"is_a","term_name":"energy taxis","termid":"GO:0009453"}],"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 energy taxis","termid":"GO:0052129"}


id: PBO:0085619
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Protein involved in early stages of meiotic recombination; required for chromosome synapsis; forms a complex with Rec104p and Spo11p necessary during the initiation of recombination","termid":"PBO:0085619"}


id: GO:2000977
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of forebrain neuron differentiation.","definition_xrefs":["GOC:obol"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of neuron differentiation","termid":"GO:0045664"},{"relation_name":"regulates","term_name":"forebrain neuron differentiation","termid":"GO:0021879"}],"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 forebrain neuron differentiation","termid":"GO:2000977"}


id: PBO:0026796
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-normal_proteasome_localization_to_nuclear_periphery","termid":"PBO:0026796"}


id: PBO:0048894
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"golgin A6 family like 14, pseudogene","termid":"PBO:0048894"}


id: MONDO:0011931
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"ovarian cancer","termid":"MONDO:0008170"},{"relation_name":"is_a","term_name":"hereditary neoplastic syndrome","termid":"MONDO:0015356"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ovarian cancer, susceptibility to, 1","secondary_identifiers":["MEDGEN:390836","UMLS:C2675601","OMIM:607893"],"synonyms":[{"name":"OVCAS1","type":"exact"},{"name":"ovarian cancer, susceptibility to","type":"exact"},{"name":"ovarian cancer, susceptibility to, 1","type":"exact"}],"termid":"MONDO:0011931","xrefs":{"Monarch":{"xref_id":"0011931"}}}


id: PBO:0113510
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Type I membrane protein involved in autophagy and the Cvt pathway; targeted to vacuole via AP-3 pathway","termid":"PBO:0113510"}


id: GO:0034153
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that activates or increases the frequency, rate, or extent of toll-like receptor 6 signaling pathway.","definition_xrefs":["PMID:17328678","PMID:16551253","GOC:add"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of toll-like receptor 6 signaling pathway","termid":"GO:0034151"},{"relation_name":"is_a","term_name":"positive regulation of pattern recognition receptor signaling pathway","termid":"GO:0062208"},{"relation_name":"positively_regulates","term_name":"toll-like receptor 6 signaling pathway","termid":"GO:0034150"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"positively_regulates","termid":"GO:0023052"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"regulates","termid":"GO:0023052"}],"interesting_parent_ids":["GO:0008150","GO:0023052"],"is_obsolete":false,"name":"positive regulation of toll-like receptor 6 signaling pathway","synonyms":[{"name":"positive regulation of TLR6 signaling pathway","type":"exact"},{"name":"positive regulation of toll-like receptor 6 signalling pathway","type":"exact"}],"termid":"GO:0034153"}


id: PBO:0083370
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Dubious open reading frame; unlikely to encode a functional protein, based on available experimental and comparative sequence data; overlaps verified ORF ALG3","termid":"PBO:0083370"}


id: PBO:0004369
data:
  {"annotation_feature_type":"gene","cv_name":"warning","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"previously annotated as csn6 in error","termid":"PBO:0004369"}


id: GO:0042821
data:
  {"annotated_genes":["SJAG_01543"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[114783],"is_not":false,"summary":null,"term":"GO:0042821"}]},"cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the formation of 3-hydroxy-5-(hydroxymethyl)-2-methyl-4-pyridinecarboxaldehyde, one of the vitamin B6 compounds.","definition_xrefs":["PMID:21767669","GOC:jl"],"direct_ancestors":[{"relation_name":"is_a","term_name":"pyridoxal metabolic process","termid":"GO:0042817"},{"relation_name":"is_a","term_name":"vitamin B6 biosynthetic process","termid":"GO:0042819"},{"relation_name":"is_a","term_name":"aldehyde biosynthetic process","termid":"GO:0046184"}],"gene_count":1,"genes_by_uniquename":{"SJAG_01543":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0006766"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0044281"}],"interesting_parent_ids":["GO:0008150","GO:0006766","GO:0044281"],"is_obsolete":false,"name":"pyridoxal biosynthetic process","references_by_uniquename":{"GO_REF:0000107":null},"synonyms":[{"name":"pyridoxal anabolism","type":"exact"},{"name":"pyridoxal biosynthesis","type":"exact"},{"name":"pyridoxal formation","type":"exact"},{"name":"pyridoxal synthesis","type":"exact"}],"termid":"GO:0042821","terms_by_termid":{"GO:0042821":null}}


id: PATO:0001706
data:
  {"annotation_feature_type":"gene","cv_name":"quality","definition":"A behavioral quality inhering in a bearer by virtue of the bearer's disposition to lack activity.","definition_xrefs":["PATOC:GVG"],"direct_ancestors":[{"relation_name":"is_a","term_name":"behavioural activity","termid":"PATO:0002265"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"behavioural inactive","termid":"PATO:0001706"}


id: PBO:0043852
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"cellular retinoic acid binding protein 1","termid":"PBO:0043852"}


id: PBO:0090902
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"NuA4 histone acetyltransferase complex subunit Eaf7","termid":"PBO:0090902"}


id: FYPO:0000913
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A sporulation phenotype that results in the formation of an ascus that contains spores of non-uniform size and DNA content.","definition_xrefs":["PomBase:vw","PomBase:mah","PMID:20298435"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal sporulation","termid":"FYPO:0000121"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0000121"},{"rel_name":"is_a","termid":"FYPO:0000631"},{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0001985"}],"interesting_parent_ids":["FYPO:0000002","FYPO:0000631","FYPO:0005447","FYPO:0001985","FYPO:0000121"],"is_obsolete":false,"name":"abnormal sporulation resulting in formation of ascus containing non-uniform spores","synonyms":[{"name":"abnormal ascospore formation resulting in formation ascus containing non-uniform spores","type":"exact"},{"name":"abnormal sporulation resulting in formation of asci containing non-uniform spores","type":"related"}],"termid":"FYPO:0000913"}


id: GO:0006187
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the formation of dGTP, deoxyguanosine triphosphate (2'-deoxyguanosine 5'-triphosphate) from other compounds, including gGDP, deoxyguanosine diphosphate.","definition_xrefs":["ISBN:0198506732"],"direct_ancestors":[{"relation_name":"is_a","term_name":"dGDP metabolic process","termid":"GO:0046066"},{"relation_name":"is_a","term_name":"dGTP biosynthetic process","termid":"GO:0046071"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0055086"},{"rel_name":"is_a","termid":"GO:0044281"}],"interesting_parent_ids":["GO:0055086","GO:0044281","GO:0008150"],"is_obsolete":false,"name":"dGTP biosynthetic process from dGDP","synonyms":[{"name":"dGTP anabolism from dGDP","type":"exact"},{"name":"dGTP formation from dGDP","type":"exact"},{"name":"dGTP synthesis from dGDP","type":"exact"}],"termid":"GO:0006187"}


id: GO:1901011
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. The chemical reactions and pathways resulting in the breakdown of (S)-reticuline.","definition_xrefs":["GOC:TermGenie","GOC:yaf"],"gene_count":0,"genotype_count":0,"name":"obsolete (S)-reticuline catabolic process (obsolete GO:1901011)","synonyms":[{"name":"(S)-reticuline breakdown","type":"exact"},{"name":"(S)-reticuline catabolism","type":"exact"},{"name":"(S)-reticuline degradation","type":"exact"}],"termid":"GO:1901011"}


id: PBO:0000719
data:
  {"annotation_feature_type":"gene","cv_name":"disease_associated","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"amyotrophic lateral sclerosis","termid":"PBO:0000719"}


id: MONDO:0010662
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A syndrome characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition.","definition_xrefs":["Orphanet:2824"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"multiple congenital anomalies/dysmorphic syndrome-intellectual disability","termid":"MONDO:0015159"},{"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"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"paraplegia-intellectual disability-hyperkeratosis syndrome","secondary_identifiers":["MESH:C537058","OMIM:309560","GARD:2344","UMLS:C2745996","MEDGEN:411554"],"synonyms":[{"name":"Fitzsimmons-McLachlan-Gilbert syndrome","type":"exact"},{"name":"intellectual disability with spastic paraplegia and palmoplantar hyperkeratosis","type":"related"},{"name":"mental retardation with spastic paraplegia and palmoplantar hyperkeratosis","type":"related"}],"termid":"MONDO:0010662","xrefs":{"Monarch":{"xref_id":"0010662"}}}


id: PBO:0017558
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"mitochondrial anion transmembrane transporter (predicted)","termid":"PBO:0017558"}


id: MONDO:0030074
data:
  {"annotated_genes":["SJAG_00321"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[85738],"is_not":false,"summary":null,"term":"MONDO:0030074"}]},"cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"hereditary disease","termid":"MONDO:0003847"}],"gene_count":1,"genes_by_uniquename":{"SJAG_00321":null},"genotype_count":0,"is_obsolete":false,"name":"spondylometaphyseal dysplasia with corneal dystrophy","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["DOID:0112303","UMLS:C5394555","GARD:18016","MEDGEN:1714019","OMIM:618961","Orphanet:589435"],"synonyms":[{"name":"SMDCD","type":"exact"},{"name":"SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY","type":"exact"},{"name":"spondylometaphyseal dysplasia with corneal dystrophy","type":"exact"}],"termid":"MONDO:0030074","terms_by_termid":{"MONDO:0030074":null},"xrefs":{"Monarch":{"xref_id":"0030074"}}}


id: SO:0000996
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"A region of the genome that has been predicted to be a gene but has not been confirmed by laboratory experiments.","direct_ancestors":[{"relation_name":"has_quality","term_name":"predicted","termid":"SO:0000732"},{"relation_name":"is_a","term_name":"gene","termid":"SO:0000704"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"predicted_gene","synonyms":[{"name":"predicted gene","type":"exact"}],"termid":"SO:0000996"}


id: MONDO:0007162
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":"asymmetric short stature syndrome","secondary_identifiers":["MESH:C566248","MEDGEN:354753","OMIM:108450","UMLS:C1862458"],"synonyms":[{"name":"asymmetric short stature syndrome","type":"exact"}],"termid":"MONDO:0007162","xrefs":{"Monarch":{"xref_id":"0007162"}}}


id: PBO:0000736
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase family or domain","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"coronin family","termid":"PBO:0000736"}


id: PBO:0065864
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RAB21, member RAS oncogene family","termid":"PBO:0065864"}


id: GO:2001213
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents or reduces the frequency, rate or extent of vasculogenesis.","definition_xrefs":["GOC:obol"],"direct_ancestors":[{"relation_name":"is_a","term_name":"negative regulation of cell differentiation","termid":"GO:0045596"},{"relation_name":"is_a","term_name":"regulation of vasculogenesis","termid":"GO:2001212"},{"relation_name":"negatively_regulates","term_name":"vasculogenesis","termid":"GO:0001570"}],"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 vasculogenesis","synonyms":[{"name":"negative regulation of vascular morphogenesis","type":"exact"}],"termid":"GO:2001213"}


id: PR:O94673
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- SPBC776.05 gene.","definition_xrefs":["UniProtKB:O94673","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":"uncharacterized membrane protein C776.05 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPBC776.05","synonyms":[{"name":"Spom972h-SPBC776.05","type":"exact"}],"termid":"PR:O94673"}


id: SOFP:owner
data:
  {"annotation_feature_type":"gene","cv_name":"feature_property","direct_ancestors":[{"relation_name":"is_a","term_name":"feature_property","termid":"SOFP:feature_property"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"owner","termid":"SOFP:owner"}


id: PATO:0001810
data:
  {"annotation_feature_type":"gene","cv_name":"quality","definition":"A grooved texture quality inhering in a bearer by virtue of the bearer's being marked by one or more creases in a normally smooth surface.","direct_ancestors":[{"relation_name":"is_a","term_name":"grooved","termid":"PATO:0002255"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"wrinkled","termid":"PATO:0001810"}


id: PBO:0048460
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"glucagon receptor","termid":"PBO:0048460"}


id: PBO:0085139
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Nucleolar protein required for rRNA synthesis and ribosomal assembly; required for the synthesis of 18S rRNA and for the assembly of 40S ribosomal subunit; essential gene","termid":"PBO:0085139"}


id: PBO:0085179
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"One of several homologs of bacterial chaperone DnaJ; located in the ER lumen where it cooperates with Kar2p to mediate maturation of proteins","termid":"PBO:0085179"}


id: FYPO:0004948
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 heterochromatin is assembled over a larger portion of the centromeric region of the chromosome than normal.","definition_xrefs":["PMID:17948055","PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"increased spatial extent of heterochromatin assembly","termid":"FYPO:0007953"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0000641"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0000002"}],"interesting_parent_ids":["FYPO:0001985","FYPO:0005447","FYPO:0000002","FYPO:0001320","FYPO:0000641"],"is_obsolete":false,"name":"increased spatial extent of centromeric heterochromatin assembly","synonyms":[{"name":"increased spatial extent of centromeric heterochromatin assembly during mitotic cell cycle","type":"related"},{"name":"increased spatial extent of centromeric heterochromatin assembly during vegetative growth","type":"exact"},{"name":"increased spatial extent of centromeric heterochromatin formation","type":"exact"}],"termid":"FYPO:0004948"}


id: GO:0070397
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways involving wall teichoic acid, which is a major component of the cell wall of Gram-positive bacteria and typically consists of a polymer of glycerol-phosphate or ribitol-phosphate to which are attached glycosyl and D-alanyl ester residues and which is covalently linked to peptidoglycan.","definition_xrefs":["GOC:add","PMID:16020688","PMID:14665680"],"direct_ancestors":[{"relation_name":"is_a","term_name":"teichoic acid metabolic process","termid":"GO:0046374"}],"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":"wall teichoic acid metabolic process","synonyms":[{"name":"WTA metabolic process","type":"exact"},{"name":"wall teichoic acid metabolism","type":"exact"}],"termid":"GO:0070397"}


id: PBO:0043613
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"COMM domain containing 4 pseudogene 1","termid":"PBO:0043613"}


id: PBO:0058699
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 6827","termid":"PBO:0058699"}


id: PBO:0027646
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_BE49385A","termid":"PBO:0027646"}


id: MONDO:0015084
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established.","definition_xrefs":["Orphanet:100974"],"direct_ancestors":[{"relation_name":"is_a","term_name":"syndromic disease","termid":"MONDO:0002254"},{"relation_name":"is_a","term_name":"hereditary disease","termid":"MONDO:0003847"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"FRAXF syndrome","secondary_identifiers":["UMLS:C4274329","GARD:19769","MEDGEN:897295","SCTID:716708005"],"termid":"MONDO:0015084","xrefs":{"Monarch":{"xref_id":"0015084"}}}


id: PBO:0063358
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Purkinje cell protein 4","termid":"PBO:0063358"}


id: PR:O42962
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- cog5 gene.","definition_xrefs":["PRO:DNx","UniProtKB:O42962"],"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":"conserved oligomeric Golgi complex subunit 5 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPBC19G7.14c","synonyms":[{"name":"COG complex subunit 5 (Schizosaccharomyces pombe 972h-)","type":"exact"},{"name":"Spom972h-cog5","type":"exact"}],"termid":"PR:O42962"}


id: MONDO:0003203
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete pituitary carcinoma (obsolete MONDO:0003203)","termid":"MONDO:0003203","xrefs":{"Monarch":{"xref_id":"0003203"}}}


id: GO:0019422
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process in which sulfur compounds with an intermediate oxidation state serve as both electron donors and electron acceptors in an energy-generating redox process. The reaction takes place anaerobically, in light and in the absence of CO2.","definition_xrefs":["MetaCyc:P203-PWY"],"direct_ancestors":[{"relation_name":"is_a","term_name":"sulfur compound metabolic process","termid":"GO:0006790"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0006790"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150","GO:0006790"],"is_obsolete":false,"name":"disproportionation of elemental sulfur","synonyms":[{"name":"disproportionation of elemental sulphur","type":"exact"}],"termid":"GO:0019422"}


id: GO:0046891
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. The carbamoylation of peptidyl-cysteine to form peptidyl-S-carbamoyl-L-cysteine.","definition_xrefs":["RESID:AA0332"],"gene_count":0,"genotype_count":0,"name":"obsolete peptidyl-cysteine S-carbamoylation (obsolete GO:0046891)","termid":"GO:0046891"}


id: MONDO:0020590
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Infection due to organisms from the genus Mycobacteria.","definition_xrefs":["NCIT:C26831"],"direct_ancestors":[{"relation_name":"is_a","term_name":"bacterial infectious disease","termid":"MONDO:0005113"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"mycobacterial infectious disease","secondary_identifiers":["MESH:D009164","MEDGEN:6479","UMLS:C0026918","SCTID:88415009"],"synonyms":[{"name":"mycobacterial infection","type":"exact"},{"name":"mycobacteriosis","type":"exact"},{"name":"mycobacterium infection","type":"exact"}],"termid":"MONDO:0020590","xrefs":{"Monarch":{"xref_id":"0020590"}}}


id: MONDO:0100052
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"OBSOLETE. Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days, with improvement upon therapy with acetazolamide.","definition_xrefs":["PMID:23677664"],"gene_count":0,"genotype_count":0,"name":"obsolete acetazolamide-responsive hereditary episodic ataxia (obsolete MONDO:0100052)","termid":"MONDO:0100052","xrefs":{"Monarch":{"xref_id":"0100052"}}}


id: PBO:0083668
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Endoplasmic reticulum protein; may contribute to maintenance of ER and nuclear morphology; null mutant shows discontinuity in nuclear envelope, clustering of nuclear pores, and lacks cortical ER","termid":"PBO:0083668"}


id: PATO:0002302
data:
  {"annotation_feature_type":"gene","cv_name":"quality","definition":"A quality of a process that has a value that is decreased compared to normal or average.","definition_xrefs":["PATOC:GVG"],"direct_ancestors":[{"relation_name":"decreased_in_magnitude_relative_to","term_name":"normal","termid":"PATO:0000461"},{"relation_name":"is_a","term_name":"process quality","termid":"PATO:0001236"},{"relation_name":"is_a","term_name":"decreased quality","termid":"PATO:0002301"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"decreased process quality","termid":"PATO:0002302"}


id: PBO:0089672
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"U3 snoRNP-associated protein Rrp5","termid":"PBO:0089672"}


id: MONDO:0006398
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A multinodular intermediate fibroblastic neoplasm arising from the retroperitoneum. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells.","definition_xrefs":["NCIT:C39741"],"direct_ancestors":[{"relation_name":"is_a","term_name":"inflammatory myofibroblastic tumor","termid":"MONDO:0015798"},{"relation_name":"is_a","term_name":"retroperitoneal neoplasm","termid":"MONDO:0024645"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"retroperitoneal inflammatory myofibroblastic tumor","secondary_identifiers":["MEDGEN:271681","UMLS:C1514921","EFO:1000510"],"synonyms":[{"name":"retroperitoneal inflammatory myofibroblastic tumor","type":"exact"},{"name":"retroperitoneal space inflammatory myofibroblastic tumor","type":"exact"},{"name":"retroperitoneal space inflammatory myofibroblastic tumour","type":"exact"}],"termid":"MONDO:0006398","xrefs":{"Monarch":{"xref_id":"0006398"}}}


id: FYPO:0001427
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A regulation phenotype observed in the vegetative growth phase of the life cycle in which negative regulation of the initiation of mitotic DNA replication is abnormal, resulting in a single round of rereplication of the entire genome, which takes place more slowly than normal replication.","definition_xrefs":["PomBase:mah","PMID:10388806"],"direct_ancestors":[{"relation_name":"has_output","term_name":"DNA content increased during vegetative growth","termid":"FYPO:0000158"},{"relation_name":"is_a","term_name":"abnormal negative regulation of mitotic DNA replication initiation","termid":"FYPO:0000216"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0000631"}],"interesting_parent_ids":["FYPO:0001320","FYPO:0005447","FYPO:0000631","FYPO:0001985","FYPO:0000002"],"is_obsolete":false,"name":"abnormal negative regulation of mitotic DNA replication initiation resulting in slow rereplication","synonyms":[{"name":"abnormal negative regulation of DNA replication initiation during vegetative growth, resulting in slow rereplication","type":"exact"},{"name":"abnormal negative regulation of DNA replication initiation resulting in slow rereplication during mitotic cell cycle","type":"related"},{"name":"abnormal negative regulation of mitotic DNA replication initiation resulting in slow re-replication","type":"exact"},{"name":"slow mitotic DNA re-replication","type":"related"},{"name":"slow mitotic DNA rereplication","type":"related"}],"termid":"FYPO:0001427"}


id: GO:0006600
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways involving creatine (N-(aminoiminomethyl)-N-methylglycine), a compound synthesized from the amino acids arginine, glycine, and methionine that occurs in muscle.","definition_xrefs":["ISBN:0192801023","GOC:jl"],"direct_ancestors":[{"relation_name":"is_a","term_name":"modified amino acid metabolic process","termid":"GO:0006575"},{"relation_name":"is_a","term_name":"monocarboxylic acid metabolic process","termid":"GO:0032787"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0044281"}],"interesting_parent_ids":["GO:0008150","GO:0044281"],"is_obsolete":false,"name":"creatine metabolic process","secondary_identifiers":["Reactome:R-HSA-71288"],"synonyms":[{"name":"creatine metabolism","type":"exact"}],"termid":"GO:0006600"}


id: PBO:0044528
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"dishevelled binding antagonist of beta catenin 2","termid":"PBO:0044528"}


id: PBO:0058852
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 8081","termid":"PBO:0058852"}


id: GO:2000957
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of cyclodextrin catabolic process.","definition_xrefs":["GOC:mengo_curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of carbohydrate catabolic process","termid":"GO:0043470"},{"relation_name":"is_a","term_name":"regulation of cyclodextrin metabolic process","termid":"GO:2000954"},{"relation_name":"regulates","term_name":"cyclodextrin catabolic process","termid":"GO:2000901"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"regulates","termid":"GO:0005975"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0005975","GO:0008150"],"is_obsolete":false,"name":"regulation of cyclodextrin catabolic process","synonyms":[{"name":"regulation of cyclodextrin catabolism","type":"exact"}],"termid":"GO:2000957"}


id: GO:0018744
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: limonene-1,2-epoxide + H2O = limonene-1,2-diol. Other substrates include alicyclic and 1-methyl-substituted epoxides, such as 1-methylcyclohexene oxide, indene oxide and cyclohexene oxide.","definition_xrefs":["EC:3.3.2.8"],"direct_ancestors":[{"relation_name":"is_a","term_name":"epoxide hydrolase activity","termid":"GO:0004301"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0016787"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0003824"}],"interesting_parent_ids":["GO:0003674","GO:0003824","GO:0016787"],"is_obsolete":false,"name":"limonene-1,2-epoxide hydrolase activity","secondary_identifiers":["UM-BBD_reactionID:r0734","MetaCyc:3.3.2.8-RXN","RHEA:10700"],"synonyms":[{"name":"limonene oxide hydrolase activity","type":"related"}],"termid":"GO:0018744"}


id: PBO:0065085
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"protein kinase AMP-activated catalytic subunit alpha 2","termid":"PBO:0065085"}


id: GO:0008016
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process in which the heart decreases in volume in a characteristic way to propel blood through the body.","definition_xrefs":["GOC:go_curators","GOC:tb","GOC:dph"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of blood circulation","termid":"GO:1903522"},{"relation_name":"regulates","term_name":"heart contraction","termid":"GO:0060047"}],"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 heart contraction","synonyms":[{"name":"regulation of cardiac contraction","type":"exact"}],"termid":"GO:0008016"}


id: PBO:0027592
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_tyrosine_phosphorylation_during_vegetative_growth","termid":"PBO:0027592"}


id: RO:0008504
data:
  {"annotation_feature_type":"gene","cv_name":"relationship","definition":"inverse of kleptoparasite of","direct_ancestors":[{"relation_name":"is_a","term_name":"parasitized_by","termid":"RO:0002445"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"kleptoparasitized_by","termid":"RO:0008504"}


id: GO:0002881
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents, or reduces the frequency, rate, or extent of a chronic inflammatory response to a non-antigenic stimulus.","definition_xrefs":["GOC:add"],"direct_ancestors":[{"relation_name":"is_a","term_name":"negative regulation of chronic inflammatory response","termid":"GO:0002677"},{"relation_name":"is_a","term_name":"regulation of chronic inflammatory response to non-antigenic stimulus","termid":"GO:0002880"},{"relation_name":"negatively_regulates","term_name":"chronic inflammatory response to non-antigenic stimulus","termid":"GO:0002545"}],"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 chronic inflammatory response to non-antigenic stimulus","synonyms":[{"name":"down regulation of chronic inflammatory response to non-antigenic stimulus","type":"exact"},{"name":"down-regulation of chronic inflammatory response to non-antigenic stimulus","type":"exact"},{"name":"downregulation of chronic inflammatory response to non-antigenic stimulus","type":"exact"},{"name":"inhibition of chronic inflammatory response to non-antigenic stimulus","type":"narrow"}],"termid":"GO:0002881"}


id: MONDO:0010155
data:
  {"annotated_genes":["SJAG_04323"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[85373],"is_not":false,"summary":null,"term":"MONDO:0010155"}]},"cv_name":"mondo","direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"obsolete autosomal ichthyosis syndrome (obsolete MONDO:0017270)","termid":"MONDO:0017270"},{"relation_name":"is_a","term_name":"neutral lipid storage disease","termid":"MONDO:0015611"}],"gene_count":1,"genes_by_uniquename":{"SJAG_04323":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005066"},{"rel_name":"is_a","termid":"MONDO:0002525"},{"rel_name":"is_a","termid":"MONDO:0002561"}],"interesting_parent_ids":["MONDO:0002525","MONDO:0005066","MONDO:0002561"],"is_obsolete":false,"name":"Dorfman-Chanarin disease","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["Orphanet:98907","MEDGEN:82780","NANDO:1200623","GARD:3979","SCTID:19604005","NANDO:2200997","OMIM:275630","icd11.foundation:690728790","UMLS:C0268238","NANDO:1200622"],"synonyms":[{"name":"CDS","type":"related"},{"name":"Chanarin-Dorfman Syndrome","type":"exact"},{"name":"Chanarin-Dorfman disease","type":"related"},{"name":"Chanarin-Dorfman syndrome","type":"exact"},{"name":"DCs","type":"related"},{"name":"Dorfman Chanarin syndrome","type":"related"},{"name":"Dorfman-Chanarin syndrome","type":"related"},{"name":"NLSDI","type":"exact"},{"name":"disorder of cornification 12 (neutral lipid storage type)","type":"related"},{"name":"ichthyosiform erythroderma with leukocyte vacuolation","type":"related"},{"name":"ichthyotic neutral Lipid storage disease","type":"related"},{"name":"neutral Lipid storage disease with ichthyosis","type":"related"},{"name":"neutral lipid storage disease with ichthyosis","type":"exact"},{"name":"neutral lipid storage disease with ichthyotic","type":"related"},{"name":"triglyceride storage disease with impaired long-chain fatty acid oxidation","type":"related"}],"termid":"MONDO:0010155","terms_by_termid":{"MONDO:0010155":null},"xrefs":{"Monarch":{"xref_id":"0010155"}}}


id: PBO:0082253
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Alpha subunit of translation initiation factor eIF2B; guanine-nucleotide exchange factor for eIF2; activity regulated by phosphorylated eIF2; positive regulator of GCN4 expression; mutations in human ortholog EIF2B2 cause fatal brain disease childhood ataxia with central nervous system hypomyelination (CACH); human ortholog EIF2B1 can complement yeast null mutant","termid":"PBO:0082253"}


id: PATO:0001180
data:
  {"annotation_feature_type":"gene","cv_name":"quality","gene_count":0,"genotype_count":0,"name":"OBSOLETE PATO:0001180 relative response (obsolete PATO:0001180)","termid":"PATO:0001180"}


id: GO:0033167
data:
  {"annotated_genes":["SJAG_02594","SJAG_02621","SJAG_04061"],"annotation_feature_type":"gene","cv_annotations":{"cellular_component":[{"annotations":[63036,89128,118478],"is_not":false,"summary":null,"term":"GO:0033167"}]},"cv_name":"cellular_component","definition":"A ribonucleoprotein complex that contains members of the Argonaute family of proteins, additional protein subunits, and duplex siRNA; required for heterochromatin assembly and siRNA generation. Possibly involved in the conversion of ds siRNA to ss siRNA.","definition_xrefs":["GOC:vw","PMID:17310250"],"direct_ancestors":[{"relation_name":"is_a","term_name":"RNAi effector complex","termid":"GO:0031332"},{"relation_name":"is_a","term_name":"nuclear protein-containing complex","termid":"GO:0140513"}],"gene_count":3,"genes_by_uniquename":{"SJAG_02594":null,"SJAG_02621":null,"SJAG_04061":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0032991"},{"rel_name":"part_of","termid":"GO:0005634"},{"rel_name":"is_a","termid":"GO:0005575"}],"interesting_parent_ids":["GO:0005634","GO:0032991","GO:0005575"],"is_obsolete":false,"name":"ARC complex","references_by_uniquename":{"GO_REF:0000002":null,"GO_REF:0000107":null},"synonyms":[{"name":"argonaute siRNA chaperone complex","type":"exact"}],"termid":"GO:0033167","terms_by_termid":{"GO:0033167":null}}


id: SO:0001706
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"A kind of histone modification site, whereby the 4th residue (a lysine), from the start of the H3 protein is tri-methylated.","direct_ancestors":[{"relation_name":"is_a","term_name":"H3K4_methylation_site","termid":"SO:0001734"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"SO:0000839"}],"interesting_parent_ids":["SO:0000839"],"is_obsolete":false,"name":"H3K4_trimethylation","synonyms":[{"name":"H3K4 tri-methylation","type":"exact"},{"name":"H3K4me3","type":"related"}],"termid":"SO:0001706"}


id: PBO:0018118
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"TOG/XMAP14 microtubule-associated protein Dis1","termid":"PBO:0018118"}


id: PBO:0088692
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"importin alpha family nuclear import signal receptor adaptor Imp1","termid":"PBO:0088692"}


id: PBO:0116817
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"focally amplified lncRNA regulator of ECM1","termid":"PBO:0116817"}


id: MONDO:0000280
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete Brazilian hemorrhagic fever (obsolete MONDO:0000280)","termid":"MONDO:0000280","xrefs":{"Monarch":{"xref_id":"0000280"}}}


id: PBO:0029202
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-sensitive_to_micafungin","termid":"PBO:0029202"}


id: GO:0008893
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: guanosine 3',5'-bis(diphosphate) + H2O = diphosphate + GDP + H+.","definition_xrefs":["RHEA:14253"],"direct_ancestors":[{"relation_name":"is_a","term_name":"diphosphoric monoester hydrolase activity","termid":"GO:0016794"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0016787"},{"rel_name":"is_a","termid":"GO:0016788"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0016787","GO:0016788","GO:0003824","GO:0003674"],"is_obsolete":false,"name":"guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity","secondary_identifiers":["EC:3.1.7.2","MetaCyc:PPGPPSYN-RXN"],"synonyms":[{"name":"(ppGpp)ase activity","type":"related"},{"name":"PpGpp phosphohydrolase activity","type":"related"},{"name":"PpGpp-3'-pyrophosphohydrolase activity","type":"related"},{"name":"guanosine-3',5'-bis(diphosphate) 3'-diphosphohydrolase activity","type":"exact"},{"name":"guanosine-3',5'-bis(diphosphate) 3'-pyrophosphatase activity","type":"related"},{"name":"guanosine-3',5'-bis(diphosphate) 3'-pyrophosphohydrolase activity","type":"exact"},{"name":"penta-phosphate guanosine-3'-diphosphohydrolase activity","type":"related"},{"name":"penta-phosphate guanosine-3'-pyrophosphohydrolase activity","type":"related"}],"termid":"GO:0008893"}


id: GO:0042453
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways involving deoxyguanosine, a nucleoside consisting of the base guanine and the sugar deoxyribose.","definition_xrefs":["GOC:jl"],"direct_ancestors":[{"relation_name":"is_a","term_name":"purine deoxyribonucleoside metabolic process","termid":"GO:0046122"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0044281"},{"rel_name":"is_a","termid":"GO:0055086"}],"interesting_parent_ids":["GO:0008150","GO:0044281","GO:0055086"],"is_obsolete":false,"name":"deoxyguanosine metabolic process","synonyms":[{"name":"deoxyguanosine metabolism","type":"exact"}],"termid":"GO:0042453"}


id: GO:2000941
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that activates or increases the frequency, rate or extent of plant-type cell wall cellulose catabolic process.","definition_xrefs":["GOC:mengo_curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of plant-type cell wall cellulose catabolic process","termid":"GO:2000939"},{"relation_name":"is_a","term_name":"positive regulation of cell wall polysaccharide catabolic process","termid":"GO:2000968"},{"relation_name":"positively_regulates","term_name":"plant-type cell wall cellulose catabolic process","termid":"GO:0044348"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"regulates","termid":"GO:0005975"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"positively_regulates","termid":"GO:0005975"}],"interesting_parent_ids":["GO:0005975","GO:0008150"],"is_obsolete":false,"name":"positive regulation of plant-type cell wall cellulose catabolic process","synonyms":[{"name":"positive regulation of plant-type cell wall polysaccharide breakdown","type":"exact"}],"termid":"GO:2000941"}


id: GO:0001573
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways involving ceramide oligosaccharides carrying in addition to other sugar residues, one or more sialic acid residues.","definition_xrefs":["ISBN:0198506732"],"direct_ancestors":[{"relation_name":"is_a","term_name":"ceramide metabolic process","termid":"GO:0006672"},{"relation_name":"is_a","term_name":"glycosphingolipid metabolic process","termid":"GO:0006687"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0006629"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150","GO:0006629"],"is_obsolete":false,"name":"ganglioside metabolic process","synonyms":[{"name":"ganglioside metabolism","type":"exact"}],"termid":"GO:0001573"}


id: PBO:0030086
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-normal_growth_on_glutathione","termid":"PBO:0030086"}


id: GO:1902872
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of horizontal cell localization.","definition_xrefs":["PMID:16872597","GOC:mr","GO_REF:0000058","GOC:TermGenie"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of localization","termid":"GO:0032879"},{"relation_name":"is_a","term_name":"regulation of cellular process","termid":"GO:0050794"},{"relation_name":"regulates","term_name":"horizontal cell localization","termid":"GO:0035852"}],"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 horizontal cell localization","synonyms":[{"name":"regulation of horizontal cell localisation","type":"exact"},{"name":"regulation of horizontal cell positioning","type":"exact"},{"name":"regulation of laminar positioning of retinal horizontal cell","type":"exact"},{"name":"regulation of retinal horizontal cell positioning","type":"exact"}],"termid":"GO:1902872"}


id: MONDO:0000902
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and \\\"autistic-like\\\" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.","definition_xrefs":["Orphanet:1496"],"direct_ancestors":[{"relation_name":"is_a","term_name":"inherited neurodegenerative disorder","termid":"MONDO:0024237"}],"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":"agenesis of the corpus callosum with peripheral neuropathy","secondary_identifiers":["MEDGEN:162893","UMLS:C0795950","MESH:C536446","OMIM:218000","SCTID:702439002","DOID:0060600","GARD:1537","DOID:0090003"],"synonyms":[{"name":"ACCPN","type":"related"},{"name":"Andermann syndrome","type":"exact"},{"name":"Charlevoix disease","type":"exact"},{"name":"HMSN/ACC","type":"related"},{"name":"agenesis of corpus callosum with neuronopathy","type":"related"},{"name":"agenesis of corpus callosum with peripheral neuropathy","type":"related"},{"name":"agenesis of corpus callosum with polyneuropathy","type":"related"},{"name":"agenesis of the corpus callosum with peripheral neuropathy","type":"exact"},{"name":"corpus callosum agenesis neuronopathy","type":"related"},{"name":"corpus callosum agenesis-neuronopathy syndrome","type":"exact"},{"name":"corpus callosum, agenesis of, with neuronopathy","type":"related"},{"name":"hereditary motor and sensory neuropathy with agenesis of the corpus callosum","type":"exact"},{"name":"peripheral neuropathy associated with agenesis of the corpus callosum","type":"exact"},{"name":"polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum","type":"related"}],"termid":"MONDO:0000902","xrefs":{"Monarch":{"xref_id":"0000902"}}}


id: GO:0102123
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"OBSOLETE. Catalysis of the reaction: gibberellin A4 + O2 + H+ + NAD(P)H = 16alpha,17-epoxy gibberellin A4 + H2O + NAD(P).","definition_xrefs":["GOC:pz"],"gene_count":0,"genotype_count":0,"name":"obsolete gibberellin A4 16alpha,17 epoxidase activity (obsolete GO:0102123)","termid":"GO:0102123"}


id: PBO:0085781
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Protein of the mitochondrial outer surface; links the Arp2/3 complex with the mitochondria during anterograde mitochondrial movement; also binds to and promotes degradation of mRNAs for select nuclear-encoded mitochondrial proteins; translationally represses oxidative stress-linked genes; regulates CoQ biosynthesis","termid":"PBO:0085781"}


id: MONDO:0010578
data:
  {"annotated_genes":["SJAG_02524"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[85434],"is_not":false,"summary":null,"term":"MONDO:0010578"}]},"cv_name":"mondo","definition":"An X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.","definition_xrefs":["Orphanet:52368"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"mitochondrial protein import disorder","termid":"MONDO:0016802"},{"relation_name":"excluded_subClassOf","term_name":"X-linked syndromic intellectual disability","termid":"MONDO:0020119"},{"relation_name":"is_a","term_name":"inherited neurodegenerative disorder","termid":"MONDO:0024237"}],"gene_count":1,"genes_by_uniquename":{"SJAG_02524":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005559"}],"interesting_parent_ids":["MONDO:0005559"],"is_obsolete":false,"name":"deafness dystonia syndrome","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["SCTID:702423009","MEDGEN:162903","UMLS:C0796074","GARD:8331","DOID:0050757","ICD9:759.89","OMIM:304700","MESH:C535808"],"synonyms":[{"name":"DDON syndrome","type":"exact"},{"name":"DDP","type":"related"},{"name":"MOHR-Tranebjaerg syndrome","type":"related"},{"name":"MTS","type":"related"},{"name":"Mohr-Tranebjaerg syndrome","type":"exact"},{"name":"Mohr-Tranebjaerg syndrome, X-linked recessive","type":"exact"},{"name":"deafness - dystonia - optic neuronopathy syndrome","type":"related"},{"name":"deafness dystonia optic atrophy syndrome","type":"exact"},{"name":"deafness dystonia optic neuronopathy syndrome","type":"exact"},{"name":"deafness dystonia optic neuronopathy syndrome (DDON)","type":"exact"},{"name":"deafness dystonia syndrome","type":"exact"},{"name":"deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency","type":"related"},{"name":"deafness-Dystonia-optic atrophy syndrome","type":"related"},{"name":"deafness-dystonia-optic neuronopathy (DDON) syndrome","type":"related"},{"name":"deafness-dystonia-optic neuronopathy syndrome","type":"exact"},{"name":"dystonia deafness syndrome","type":"exact"},{"name":"dystonia-deafness syndrome","type":"related"}],"termid":"MONDO:0010578","terms_by_termid":{"MONDO:0010578":null},"xrefs":{"Monarch":{"xref_id":"0010578"}}}


id: PBO:0051994
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"junctional adhesion molecule 2","termid":"PBO:0051994"}


id: GO:0017199
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. The acetylation of the N-terminal threonine of proteins to form the derivative N-acetyl-L-threonine; catalyzed by peptide alpha-N-acetyltransferase.","definition_xrefs":["RESID:AA0052"],"gene_count":0,"genotype_count":0,"name":"obsolete N-terminal peptidyl-threonine acetylation (obsolete GO:0017199)","termid":"GO:0017199"}


id: MOD:00716
data:
  {"annotation_feature_type":"gene","cv_name":"PSI-MOD","definition":"A protein modification that effectively converts an L-methionine residue to a methylated methionine, such as N-methyl-L-methionine.","definition_xrefs":["PubMed:18688235"],"direct_ancestors":[{"relation_name":"is_a","term_name":"methylated residue","termid":"MOD:00427"},{"relation_name":"is_a","term_name":"modified L-methionine residue","termid":"MOD:00913"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MOD:00427"}],"interesting_parent_ids":["MOD:00427"],"is_obsolete":false,"name":"methylated methionine","synonyms":[{"name":"MeMet","type":"exact"}],"termid":"MOD:00716"}


id: PBO:0029250
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-abolished_actin_filament_polymerization","termid":"PBO:0029250"}


id: GO:0051580
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of the directed movement of a neurotransmitter into a neuron or glial cell.","definition_xrefs":["GOC:ai"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of neurotransmitter transport","termid":"GO:0051588"},{"relation_name":"regulates","term_name":"neurotransmitter uptake","termid":"GO:0001504"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"regulates","termid":"GO:0006810"}],"interesting_parent_ids":["GO:0008150","GO:0006810"],"is_obsolete":false,"name":"regulation of neurotransmitter uptake","synonyms":[{"name":"regulation of neurotransmitter import","type":"exact"},{"name":"regulation of neurotransmitter reuptake","type":"exact"}],"termid":"GO:0051580"}


id: MONDO:0014353
data:
  {"annotated_genes":["SJAG_00978","SJAG_03723"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[86771,86772],"is_not":false,"summary":null,"term":"MONDO:0014353"}]},"cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"disorder of multiple glycosylation","termid":"MONDO:0017749"},{"relation_name":"is_a","term_name":"immunodeficiency disease","termid":"MONDO:0021094"}],"gene_count":2,"genes_by_uniquename":{"SJAG_00978":null,"SJAG_03723":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005066"},{"rel_name":"is_a","termid":"MONDO:0005046"},{"rel_name":"is_a","termid":"MONDO:0024322"}],"interesting_parent_ids":["MONDO:0005066","MONDO:0005046","MONDO:0024322"],"is_obsolete":false,"name":"immunodeficiency 23","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["OMIM:216920","OMIM:615816","DOID:0111953","MESH:C565684","Orphanet:443811","MEDGEN:862808","UMLS:C4014371","GARD:4331"],"synonyms":[{"name":"CID due to PGM3 deficiency","type":"exact"},{"name":"IMD23","type":"exact"},{"name":"PGM3-CDG","type":"exact"},{"name":"PGM3-EXACT congenital disorder of glycosylation","type":"exact"},{"name":"combined immunodeficiency due to PGM3 deficiency","type":"exact"},{"name":"combined inflammatory and immunologic defect","type":"exact"},{"name":"immunodeficiency 23","type":"exact"},{"name":"immunodeficiency type 23","type":"exact"},{"name":"immunodeficiency with hyper IgE and cognitive impairment","type":"exact"},{"name":"immunodeficiency-vasculitis-myoclonus syndrome","type":"exact"},{"name":"phosphoglucomutase 3 deficiency","type":"exact"},{"name":"phosphoglucomutase deficiency type 3","type":"exact"}],"termid":"MONDO:0014353","terms_by_termid":{"MONDO:0014353":null},"xrefs":{"Monarch":{"xref_id":"0014353"}}}


id: PBO:0063132
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"PARP1 binding protein","termid":"PBO:0063132"}


id: MONDO:1010541
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Meckel diverticulum that occurs in horse.","definition_xrefs":["MONDO:patterns/nonhuman_disease"],"direct_ancestors":[{"relation_name":"is_a","term_name":"Meckel diverticulum, non-human animal","termid":"MONDO:1010041"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Meckel diverticulum, horse","secondary_identifiers":["OMIA:001217-9796"],"termid":"MONDO:1010541","xrefs":{"Monarch":{"xref_id":"1010541"}}}


id: MOD:00660
data:
  {"annotation_feature_type":"gene","cv_name":"PSI-MOD","definition":"A protein modification that effectively converts an L-cysteine residue to a methylated cysteine, either S-methylcysteine, or cysteine methyl ester.","definition_xrefs":["PubMed:18688235"],"direct_ancestors":[{"relation_name":"is_a","term_name":"methylated residue","termid":"MOD:00427"},{"relation_name":"is_a","term_name":"modified L-cysteine residue","termid":"MOD:00905"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MOD:00905"},{"rel_name":"is_a","termid":"MOD:00427"}],"interesting_parent_ids":["MOD:00427","MOD:00905"],"is_obsolete":false,"name":"methylated cysteine","synonyms":[{"name":"MeCys","type":"exact"}],"termid":"MOD:00660"}


id: PBO:0069376
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U6 small nuclear 636, pseudogene","termid":"PBO:0069376"}


id: PBO:0072397
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein S27 pseudogene 2","termid":"PBO:0072397"}


id: PBO:0088732
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"actin cortical patch component Lsb5","termid":"PBO:0088732"}


id: GO:0046178
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the formation of D-gluconate, the anion of D-gluconic acid, the aldonic acid derived from glucose.","definition_xrefs":["ISBN:0198506732"],"direct_ancestors":[{"relation_name":"is_a","term_name":"carbohydrate biosynthetic process","termid":"GO:0016051"},{"relation_name":"is_a","term_name":"D-gluconate metabolic process","termid":"GO:0019521"},{"relation_name":"is_a","term_name":"aldonic acid biosynthetic process","termid":"GO:0046175"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0044281"},{"rel_name":"is_a","termid":"GO:0005975"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0005975","GO:0008150","GO:0044281"],"is_obsolete":false,"name":"D-gluconate biosynthetic process","synonyms":[{"name":"D-gluconate anabolism","type":"exact"},{"name":"D-gluconate biosynthesis","type":"exact"},{"name":"D-gluconate formation","type":"exact"},{"name":"D-gluconate synthesis","type":"exact"}],"termid":"GO:0046178"}


id: GO:0140161
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: monocarboxylate(out) + Na+(out) = monocarboxylate(in) + Na+(in).","definition_xrefs":["GOC:ln","PMID:15322102"],"direct_ancestors":[{"relation_name":"is_a","term_name":"organic acid:sodium symporter activity","termid":"GO:0005343"},{"relation_name":"is_a","term_name":"secondary active monocarboxylate transmembrane transporter activity","termid":"GO:0015355"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005215"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0022857"}],"interesting_parent_ids":["GO:0003674","GO:0005215","GO:0022857"],"is_obsolete":false,"name":"monocarboxylate:sodium symporter activity","termid":"GO:0140161"}


id: PR:Q9USR6
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"An N-acetyltransferase 9 that is encoded in the genome of Schizosaccharomyces pombe 972h-.","definition_xrefs":["PANTHER:PTHR13256:SF10","PRO:DNx","OMA:SCHPO02576"],"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":"N-acetyltransferase 9-like protein (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPBC577.03c","secondary_identifiers":["UniProtKB:Q9USR6"],"synonyms":[{"name":"Spom972h-NAT9","type":"exact"}],"termid":"PR:Q9USR6"}


id: PBO:0068911
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U6 small nuclear 154, pseudogene","termid":"PBO:0068911"}


id: PBO:0048357
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"glyceraldehyde 3 phosphate dehydrogenase pseudogene 68","termid":"PBO:0048357"}


id: MONDO:0016189
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"qualitative or quantitative defects of myofibrillar proteins","termid":"MONDO:0016186"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"qualitative or quantitative defects of filamin C","secondary_identifiers":["GARD:20428","MEDGEN:1843024","UMLS:C5680841","Orphanet:209047"],"synonyms":[{"name":"qualitative or quantitative defects of filamin type C","type":"exact"}],"termid":"MONDO:0016189","xrefs":{"Monarch":{"xref_id":"0016189"}}}


id: MONDO:0031697
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete genetic intractable diarrhea of infancy (obsolete MONDO:0031697)","secondary_identifiers":["Orphanet:363300"],"termid":"MONDO:0031697","xrefs":{"Monarch":{"xref_id":"0031697"}}}


id: PBO:0034105
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-in_synology_relationship_with","termid":"PBO:0034105"}


id: GO:0072289
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The developmental process pertaining to the initial formation of a metanephric nephron tubule from unspecified parts. A metanephric nephron tubule is an epithelial tube that is part of a nephron in the metanephros.","definition_xrefs":["GOC:mtg_kidney_jan10"],"direct_ancestors":[{"relation_name":"is_a","term_name":"nephron tubule formation","termid":"GO:0072079"},{"relation_name":"is_a","term_name":"metanephric tubule formation","termid":"GO:0072174"},{"relation_name":"part_of","term_name":"metanephric nephron tubule morphogenesis","termid":"GO:0072282"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"metanephric nephron tubule formation","termid":"GO:0072289"}


id: GO:0075092
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. Any process in which the host organism stops, prevents, or reduces the frequency, rate or extent of the symbiont signal transduction mediated by G-protein alpha subunit. 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 negative regulation by host of symbiont signal transduction mediated by G-protein alpha subunit (obsolete GO:0075092)","termid":"GO:0075092"}


id: GO:0071793
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the formation of bacillithiol, the alpha-anomeric glycoside of L-cysteinyl-D-glucosamine with L-malic acid. Bacillithiol, produced widely in the Firmicutes and sporadically in other bacterial lineages, is a low-molecular-weight thiol analogous to mycothiol in the Actinomycetes and glutathione in many species.","definition_xrefs":["PMID:20308541","GOC:dh"],"direct_ancestors":[{"relation_name":"is_a","term_name":"glycoside biosynthetic process","termid":"GO:0016138"},{"relation_name":"is_a","term_name":"sulfur compound biosynthetic process","termid":"GO:0044272"},{"relation_name":"is_a","term_name":"carboxylic acid biosynthetic process","termid":"GO:0046394"},{"relation_name":"is_a","term_name":"bacillithiol metabolic process","termid":"GO:0071792"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0006790"},{"rel_name":"is_a","termid":"GO:0044281"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0044281","GO:0006790","GO:0008150"],"is_obsolete":false,"name":"bacillithiol biosynthetic process","synonyms":[{"name":"bacillithiol anabolism","type":"exact"},{"name":"bacillithiol biosynthesis","type":"exact"},{"name":"bacillithiol formation","type":"exact"},{"name":"bacillithiol synthesis","type":"exact"}],"termid":"GO:0071793"}


id: GO:0061092
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that increases the frequency, rate or extent of the translocation, or flipping, of phospholipid molecules from one monolayer of a membrane bilayer to the opposite monolayer.","definition_xrefs":["GOC:jh","PMID:19966303","GOC:dph","GOC:tb"],"direct_ancestors":[{"relation_name":"is_a","term_name":"positive regulation of cellular component organization","termid":"GO:0051130"},{"relation_name":"is_a","term_name":"regulation of phospholipid translocation","termid":"GO:0061091"},{"relation_name":"is_a","term_name":"positive regulation of phospholipid transport","termid":"GO:2001140"},{"relation_name":"positively_regulates","term_name":"phospholipid translocation","termid":"GO:0045332"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"positively_regulates","termid":"GO:0006810"},{"rel_name":"regulates","termid":"GO:0006810"},{"rel_name":"regulates","termid":"GO:0061024"},{"rel_name":"positively_regulates","termid":"GO:0061024"},{"rel_name":"is_a","termid":"GO:0061024"}],"interesting_parent_ids":["GO:0006810","GO:0008150","GO:0061024"],"is_obsolete":false,"name":"positive regulation of phospholipid translocation","termid":"GO:0061092"}


id: PR:000050513
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A meiotic recombination protein rec8 (Schizosaccharomyces pombe) that has been phosphorylated at the position equivalent to Ser-412 of the amino acid sequence represented by UniProtKB:P36626. Example: UniProtKB:P36626, Ser-412, MOD:00046.","definition_xrefs":["PMID:33888556","PRO:DAN","PomBase:VW"],"direct_ancestors":[{"relation_name":"is_a","term_name":"meiotic recombination protein rec8 (Schizosaccharomyces pombe)","termid":"PR:000050510"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"rec8/Phos(S412)","pombase_gene_id":"SPBC29A10.14","synonyms":[{"name":"PomBase_original_PRO_term_name: meiotic recombination protein rec8 phosphorylated 3 (Schizosaccharomyces pombe)","type":"exact"},{"name":"Spom-rec8/Phos:3","type":"exact"},{"name":"UniProtKB:P36626, Ser-412, MOD:00046","type":"narrow"},{"name":"rec8/Phos(S412)","type":"exact"}],"termid":"PR:000050513"}


id: GO:0072749
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 cytochalasin B stimulus.","definition_xrefs":["GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"response to cytochalasin B","termid":"GO:1901328"},{"relation_name":"is_a","term_name":"cellular response to nitrogen compound","termid":"GO:1901699"},{"relation_name":"is_a","term_name":"cellular response to oxygen-containing compound","termid":"GO:1901701"}],"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 cytochalasin B","termid":"GO:0072749"}


id: GO:1901926
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways involving cadinene.","definition_xrefs":["PMID:22867794","GOC:TermGenie"],"direct_ancestors":[{"relation_name":"is_a","term_name":"sesquiterpene metabolic process","termid":"GO:0051761"}],"gene_count":0,"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":"cadinene metabolic process","synonyms":[{"name":"cadinene metabolism","type":"exact"}],"termid":"GO:1901926"}


id: MONDO:0030785
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"autosomal recessive non-syndromic intellectual disability","termid":"MONDO:0019502"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0006025"},{"rel_name":"is_a","termid":"MONDO:0037792"},{"rel_name":"is_a","termid":"MONDO:0005066"}],"interesting_parent_ids":["MONDO:0005066","MONDO:0006025","MONDO:0037792"],"is_obsolete":false,"name":"intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly","secondary_identifiers":["MEDGEN:1808159","UMLS:C5676961","DOID:0081234","OMIM:619827"],"synonyms":[{"name":"MRT75","type":"exact"},{"name":"intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly","type":"exact"}],"termid":"MONDO:0030785","xrefs":{"Monarch":{"xref_id":"0030785"}}}


id: PBO:0090558
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"EKC/KEOPS complex N(6)-L-threonylcarbamoyladenine synthase subunit","termid":"PBO:0090558"}


id: GO:0052648
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways involving ribitol phosphates, any phosphorylated form of ribitol, the pentitol derived formally by reduction of the -CHO group of either D- or L-ribose.","definition_xrefs":["ISBN:0198506732"],"direct_ancestors":[{"relation_name":"is_a","term_name":"pentitol phosphate metabolic process","termid":"GO:0052647"}],"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":"ribitol phosphate metabolic process","synonyms":[{"name":"ribitol phosphate metabolism","type":"exact"}],"termid":"GO:0052648"}


id: MONDO:0018852
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.","definition_xrefs":["Orphanet:49382"],"direct_ancestors":[{"relation_name":"is_a","term_name":"color vision disorder","termid":"MONDO:0001703"},{"relation_name":"is_a","term_name":"retinal disorder","termid":"MONDO:0005283"}],"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":"achromatopsia","secondary_identifiers":["SCTID:102450007","MEDGEN:57751","GARD:15015","ICD9:368.54","MedDRA:10000454","NCIT:C84528","ICD10CM:H53.51","UMLS:C0152200","DOID:13911"],"synonyms":[{"name":"ACHM","type":"exact"},{"name":"Pingelapese blindness","type":"exact"},{"name":"Rod monochromacy","type":"exact"},{"name":"Rod monochromatism","type":"exact"},{"name":"achromatopsia","type":"exact"},{"name":"complete or incomplete color blindness","type":"exact"},{"name":"complete or incomplete colour blindness","type":"exact"},{"name":"monochromatism","type":"exact"},{"name":"total color blindness","type":"exact"},{"name":"total colour blindness","type":"exact"}],"termid":"MONDO:0018852","xrefs":{"Monarch":{"xref_id":"0018852"}}}


id: FYPO:0005043
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A gene expression phenotype observed in the vegetative growth phase of the life cycle in which regulation of translation in response to ultraviolet light is abnormal.","definition_xrefs":["PomBase:mah","PMID:17369398"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cellular response phenotype during vegetative growth","termid":"FYPO:0001342"},{"relation_name":"is_a","term_name":"abnormal cellular process during vegetative growth","termid":"FYPO:0001362"},{"relation_name":"is_a","term_name":"translation regulation phenotype during vegetative growth","termid":"FYPO:0005044"},{"relation_name":"is_a","term_name":"abnormal gene expression","termid":"FYPO:0006551"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0006551"},{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0000298"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0001320"}],"interesting_parent_ids":["FYPO:0001985","FYPO:0006551","FYPO:0005447","FYPO:0000298","FYPO:0000002","FYPO:0001320"],"is_obsolete":false,"name":"abnormal regulation of translation in response to UV","synonyms":[{"name":"abnormal regulation of translation in response to UV during mitotic cell cycle","type":"related"},{"name":"abnormal regulation of translation in response to UV during vegetative growth","type":"exact"},{"name":"abnormal regulation of translation in response to ultraviolet light","type":"exact"}],"termid":"FYPO:0005043"}


id: PBO:0072825
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"SAMM50 sorting and assembly machinery component pseudogene 1","termid":"PBO:0072825"}


id: PBO:0068874
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U6 small nuclear 114, pseudogene","termid":"PBO:0068874"}


id: GO:0010086
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process in which the anatomical structures of the embryonic root are generated and organized.","definition_xrefs":["GOC:tb"],"direct_ancestors":[{"relation_name":"is_a","term_name":"root morphogenesis","termid":"GO:0010015"},{"relation_name":"is_a","term_name":"embryonic morphogenesis","termid":"GO:0048598"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"embryonic root morphogenesis","termid":"GO:0010086"}


id: PBO:0047702
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"formin 1","termid":"PBO:0047702"}


id: MONDO:0016093
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A low grade epithelial tumor arising from the ovary. It is characterized by an atypical proliferation of epithelial cells. There is no evidence of stromal invasion.","definition_xrefs":["NCIT:P378"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"malignant epithelial tumor of ovary","termid":"MONDO:0018364"},{"relation_name":"is_a","term_name":"ovarian epithelial tumor","termid":"MONDO:0002229"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"borderline epithelial tumor of ovary","secondary_identifiers":["MEDGEN:777110","EFO:1000140","SCTID:764791008","Orphanet:206473","UMLS:C3665489","NCIT:C4783","GARD:9363"],"synonyms":[{"name":"borderline epithelial neoplasm of ovary","type":"exact"},{"name":"borderline epithelial neoplasm of the ovary","type":"exact"},{"name":"borderline epithelial tumor of ovary","type":"exact"},{"name":"borderline epithelial tumor of the ovary","type":"exact"},{"name":"borderline epithelial tumour of the ovary","type":"exact"},{"name":"borderline ovarian epithelial neoplasm","type":"exact"},{"name":"borderline ovarian epithelial tumor","type":"exact"},{"name":"borderline ovarian epithelial tumour","type":"exact"},{"name":"borderline ovarian surface epithelial-stromal tumor","type":"exact"},{"name":"borderline ovarian surface epithelial-stromal tumour","type":"exact"},{"name":"epithelial neoplasm of ovary of borderline malignancy","type":"exact"},{"name":"epithelial neoplasm of the ovary of borderline malignancy","type":"exact"},{"name":"epithelial ovarian neoplasm of borderline malignancy","type":"exact"},{"name":"epithelial ovarian tumor of borderline malignancy","type":"exact"},{"name":"epithelial ovarian tumour of borderline malignancy","type":"exact"},{"name":"epithelial tumor of ovary of borderline malignancy","type":"exact"},{"name":"epithelial tumor of the ovary of borderline malignancy","type":"exact"},{"name":"epithelial tumour of ovary of borderline malignancy","type":"exact"},{"name":"epithelial tumour of the ovary of borderline malignancy","type":"exact"},{"name":"low malignant potential ovarian tumor","type":"exact"},{"name":"low malignant potential ovarian tumour","type":"exact"},{"name":"ovarian borderline malignant tumor","type":"exact"},{"name":"ovarian borderline malignant tumour","type":"exact"},{"name":"ovarian low malignant potential tumor","type":"exact"},{"name":"ovarian low malignant potential tumour","type":"exact"},{"name":"ovarian tum. of low malig. poten.","type":"exact"},{"name":"ovarian tumor of low malignant potential","type":"exact"},{"name":"ovarian tumors of low malignant potential","type":"exact"},{"name":"ovarian tumour of low malignant potential","type":"exact"},{"name":"ovarian tumours of low malignant potential","type":"exact"}],"termid":"MONDO:0016093","xrefs":{"Monarch":{"xref_id":"0016093"}}}


id: PBO:0084847
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Mitochondrial ribosomal protein of the large subunit; homologous to bacterial L16 ribosomal protein; synthetic lethality with hac1 mutation suggests a possible role in synthesis of precursors for protein glycosylation","termid":"PBO:0084847"}


id: FYPO:0006906
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cell cycle checkpoint phenotype in which a mitotic cell size control checkpoint is normal (i.e. indistinguishable from wild type). A mitotic cell size control checkpoint normally prevents cell cycle progression from G2 to M phase until the cell reaches a certain size.","definition_xrefs":["GO:0031569","PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"normal mitotic cell size control checkpoint","termid":"FYPO:0006904"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000298"},{"rel_name":"is_a","termid":"FYPO:0000631"},{"rel_name":"is_a","termid":"FYPO:0000257"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0001312"},{"rel_name":"is_a","termid":"FYPO:0001320"}],"interesting_parent_ids":["FYPO:0001312","FYPO:0000002","FYPO:0000298","FYPO:0000257","FYPO:0001320","FYPO:0000631"],"is_obsolete":false,"name":"normal mitotic G2 cell size control checkpoint","synonyms":[{"name":"normal G2 cell size control checkpoint during mitotic cell cycle","type":"exact"},{"name":"normal mitotic G2 cell size control checkpoint activation","type":"exact"},{"name":"normal mitotic G2 cell size control checkpoint during vegetative growth","type":"exact"}],"termid":"FYPO:0006906"}


id: PBO:0077558
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"transmembrane protein 265","termid":"PBO:0077558"}


id: PBO:0078834
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"tRNA-Pro (GGG) 1-1","termid":"PBO:0078834"}


id: GO:0140871
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Binds to and stops, prevents or reduces the activity of an RNA polymerase inhibitor.","definition_xrefs":["PMID:28475895","PMID:31048766"],"direct_ancestors":[{"relation_name":"is_a","term_name":"molecular function inhibitor activity","termid":"GO:0140678"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0140678"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0098772"}],"interesting_parent_ids":["GO:0098772","GO:0003674","GO:0140678"],"is_obsolete":false,"name":"repressor of RNA polymerase inhibitor activity","termid":"GO:0140871"}


id: MONDO:0100179
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"An inherited susceptibility or predisposition to developing Hirschsprung disease.","definition_xrefs":["MONDO:patterns/inherited_susceptibility"],"direct_ancestors":[{"relation_name":"is_a","term_name":"inherited disease susceptibility","termid":"MONDO:0020573"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Hirschsprung disease, susceptibility to","termid":"MONDO:0100179","xrefs":{"Monarch":{"xref_id":"0100179"}}}


id: GO:0018308
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. The transient modification of lysine by pyruvate to form N6-pyruvic acid 2-iminyl-L-lysine, found in the active site of dihydrodipicolinate synthase.","definition_xrefs":["RESID:AA0287","PMID:1463470"],"gene_count":0,"genotype_count":0,"name":"obsolete enzyme active site formation via N6-pyruvic acid 2-iminyl-L-lysine (obsolete GO:0018308)","synonyms":[{"name":"enzyme active site formation via N6-pyruvic acid 2-iminyl-L-lysine","type":"exact"}],"termid":"GO:0018308"}


id: PBO:0084127
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Hexaprenyl pyrophosphate synthetase; catalyzes the first step in ubiquinone (coenzyme Q) biosynthesis","termid":"PBO:0084127"}


id: FYPO:0008256
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 4 of histone H3 occurs to a lower extent than normal at long terminal repeat (LTR) regions.","definition_xrefs":["PMID:25356590"],"direct_ancestors":[{"relation_name":"is_a","term_name":"decreased histone H3-K4 acetylation during vegetative growth","termid":"FYPO:0004239"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0002494"},{"rel_name":"is_a","termid":"FYPO:0002274"},{"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:0000002"}],"interesting_parent_ids":["FYPO:0001985","FYPO:0000002","FYPO:0002494","FYPO:0001320","FYPO:0002274","FYPO:0005447"],"is_obsolete":false,"name":"decreased histone H3-K4 acetylation at LTR during vegetative growth","termid":"FYPO:0008256"}


id: PBO:0059576
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"metallothionein 3","termid":"PBO:0059576"}


id: PBO:0029346
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-decreased_tRNA_level","termid":"PBO:0029346"}


id: PBO:0057230
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 409","termid":"PBO:0057230"}


id: PBO:0057587
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 891b","termid":"PBO:0057587"}


id: PBO:0036501
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"nucleus specific RNA binding exosome specificity factor Mmi1","termid":"PBO:0036501"}


id: PBO:0029297
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-increased_S-adenosyl-L-methionine_level_during_G0","termid":"PBO:0029297"}


id: MONDO:0013670
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"myopia","termid":"MONDO:0001384"}],"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":"myopia, high, with cataract and vitreoretinal degeneration","secondary_identifiers":["MEDGEN:481976","OMIM:614292","GARD:18197","UMLS:C3280346"],"synonyms":[{"name":"MCVD","type":"related"},{"name":"myopia, high, with cataract and vitreoretinal degeneration","type":"exact"}],"termid":"MONDO:0013670","xrefs":{"Monarch":{"xref_id":"0013670"}}}


id: PBO:0064675
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"peptidylprolyl isomerase A pseudogene 10","termid":"PBO:0064675"}


id: GO:0002313
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process in which a naive B cell acquires the specialized features of a mature or memory B cell during an immune response.","definition_xrefs":["GOC:jal"],"direct_ancestors":[{"relation_name":"is_a","term_name":"B cell activation involved in immune response","termid":"GO:0002312"},{"relation_name":"is_a","term_name":"mature B cell differentiation","termid":"GO:0002335"}],"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":"mature B cell differentiation involved in immune response","synonyms":[{"name":"mature B cell development involved in immune response","type":"related"},{"name":"mature B cell differentiation during immune response","type":"related"},{"name":"mature B lymphocyte differentiation during immune response","type":"related"},{"name":"mature B-cell differentiation during immune response","type":"related"},{"name":"mature B-lymphocyte differentiation during immune response","type":"related"}],"termid":"GO:0002313"}


id: PBO:0031525
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-increased_DNA-1,N6-ethenoadenine_N-glycosylase_activity","termid":"PBO:0031525"}


id: GO:0044295
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"The migrating motile tip of a growing nerve cell axon.","definition_xrefs":["GOC:jl","NIF_Subcellular:sao203987954"],"direct_ancestors":[{"relation_name":"is_a","term_name":"growth cone","termid":"GO:0030426"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005575"}],"interesting_parent_ids":["GO:0005575"],"is_obsolete":false,"name":"axonal growth cone","secondary_identifiers":["NIF_Subcellular:sao1594955670"],"synonyms":[{"name":"axon growth cone","type":"exact"}],"termid":"GO:0044295"}


id: PBO:0081831
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"zinc finger protein 765","termid":"PBO:0081831"}


id: MONDO:0020735
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"Cushing syndrome due to macronodular adrenal hyperplasia","termid":"MONDO:0009049"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ACTH-independent macronodular adrenal hyperplasia 1","secondary_identifiers":["MEDGEN:347456","OMIM:219080","UMLS:C1857451","DOID:0111623"],"synonyms":[{"name":"ACTH-independent macronodular adrenal hyperplasia","type":"related"},{"name":"ACTH-independent macronodular adrenal hyperplasia, Somatic mutation","type":"exact"},{"name":"ACTH-independent macronodular adrenocortical hyperplasia","type":"related"},{"name":"AIMAH1","type":"related"},{"name":"Cushing syndrome, adrenal, due to AIMAH","type":"related"},{"name":"adrenocorticotropic hormone-independent macronodular adrenal hyperplasia","type":"related"},{"name":"corticotropin-independent macronodular adrenal hyperplasia","type":"related"}],"termid":"MONDO:0020735","xrefs":{"Monarch":{"xref_id":"0020735"}}}


id: PBO:0054136
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 1502","termid":"PBO:0054136"}


id: MONDO:0001441
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"An eating disorder characterized by the persistent eating of nonnutritive substances such as clay or soil; this behavior must be inappropriate to the level of the individual's development.","definition_xrefs":["NCIT:P378"],"direct_ancestors":[{"relation_name":"is_a","term_name":"eating disorder","termid":"MONDO:0005451"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"pica disease","secondary_identifiers":["MEDGEN:45917","NCIT:C92566","MESH:D010842","SCTID:14077003","DOID:12128","UMLS:C0031873","ICD9:307.52"],"synonyms":[{"name":"Pica","type":"exact"},{"name":"Pica eating disorder","type":"exact"}],"termid":"MONDO:0001441","xrefs":{"Monarch":{"xref_id":"0001441"}}}


id: FYPO:0006780
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A phenotype observed in the vegetative growth phase of the life cycle in which cells show increased sensitivity to Rbin-1. Cells stop growing (and may die) at a concentration of Rbin-1 that allows wild type cells to grow.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"increased sensitivity to chemical during vegetative growth","termid":"FYPO:0000127"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000003"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0002683"},{"rel_name":"is_a","termid":"FYPO:0000139"}],"interesting_parent_ids":["FYPO:0001985","FYPO:0000003","FYPO:0002683","FYPO:0000139","FYPO:0005447"],"is_obsolete":false,"name":"sensitive to Rbin-1","synonyms":[{"name":"hypersensitive to Rbin-1","type":"exact"},{"name":"sensitive to Rbin-1 during mitotic cell cycle","type":"related"},{"name":"sensitive to Rbin-1 during vegetative growth","type":"exact"},{"name":"sensitive to ribozinoindole-1","type":"exact"}],"termid":"FYPO:0006780"}


id: PBO:0051032
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"IGF like family member 1 pseudogene 2","termid":"PBO:0051032"}


id: PBO:0060356
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"myocardin","termid":"PBO:0060356"}


id: PR:Q8TFG7
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A tRNA (guanine-N(1)-)-methyltransferase that is encoded in the genome of Schizosaccharomyces pombe 972h-.","definition_xrefs":["PRO:DNx","OMA:SCHPO01652","PANTHER:PTHR23245:SF25"],"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":"tRNA (guanine(37)-N1)-methyltransferase (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAPB18E9.01","secondary_identifiers":["UniProtKB:Q8TFG7"],"synonyms":[{"name":"M1G-methyltransferase (Schizosaccharomyces pombe 972h-)","type":"exact"},{"name":"Spom972h-TRMT5","type":"exact"},{"name":"tRNA [GM37] methyltransferase (Schizosaccharomyces pombe 972h-)","type":"exact"},{"name":"tRNA methyltransferase 5 (Schizosaccharomyces pombe 972h-)","type":"exact"}],"termid":"PR:Q8TFG7"}


id: GO:0036165
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The growth of colonies in filamentous chains of cells as a result of an increase in temperature.","definition_xrefs":["PMID:22365851","GOC:di"],"direct_ancestors":[{"relation_name":"is_a","term_name":"filamentous growth of a population of unicellular organisms in response to heat","termid":"GO:0036168"},{"relation_name":"is_a","term_name":"invasive filamentous growth","termid":"GO:0036267"}],"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":"invasive growth in response to heat","synonyms":[{"name":"invasive growth in response to elevated temperature","type":"exact"},{"name":"invasive growth in response to high temperature","type":"exact"},{"name":"invasive growth in response to temperature stimulus","type":"broad"}],"termid":"GO:0036165"}


id: MONDO:0004916
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete MONDO:0004916 (obsolete MONDO:0004916)","termid":"MONDO:0004916","xrefs":{"Monarch":{"xref_id":"0004916"}}}


id: PBO:0045345
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"docking protein 5","termid":"PBO:0045345"}


id: PBO:0074541
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"synuclein gamma","termid":"PBO:0074541"}


id: GO:0001313
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. Excision from the chromosome and circularization of a region of chromosomal DNA, generally, but not always, via homologous recombination between direct tandem repeats, in dividing cells as they age.","definition_xrefs":["GOC:jh"],"gene_count":0,"genotype_count":0,"name":"obsolete formation of extrachromosomal circular DNA involved in replicative cell aging (obsolete GO:0001313)","synonyms":[{"name":"assembly of extrachromosomal circular DNA involved in replicative cell aging","type":"exact"},{"name":"formation of extrachromosomal circular DNA during replicative cell ageing","type":"related"},{"name":"formation of extrachromosomal circular DNA during replicative cell aging","type":"related"}],"termid":"GO:0001313"}


id: PBO:0116642
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ARF related protein 1","termid":"PBO:0116642"}


id: PBO:0065490
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"proteasome activator subunit 4","termid":"PBO:0065490"}


id: PBO:0077104
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"TIMM9 pseudogene 2","termid":"PBO:0077104"}


id: MONDO:0005171
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"OBSOLETE. Chronic form of myeloproliferative neoplasm.","definition_xrefs":["MONDO:patterns/chronic"],"gene_count":0,"genotype_count":0,"name":"obsolete chronic myeloproliferative disorder (obsolete MONDO:0005171)","termid":"MONDO:0005171","xrefs":{"Monarch":{"xref_id":"0005171"}}}


id: PBO:0073219
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"SEMA6A antisense RNA 1","termid":"PBO:0073219"}


id: PBO:0054468
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 1867","termid":"PBO:0054468"}


id: GO:0120343
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"The radial spoke neck is a complex that connects the spoke stalk to the head.","definition_xrefs":["GOC:krc","PMID:22754630"],"direct_ancestors":[{"relation_name":"is_a","term_name":"protein-containing complex","termid":"GO:0032991"},{"relation_name":"part_of","term_name":"radial spoke","termid":"GO:0001534"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"part_of","termid":"GO:0005737"},{"rel_name":"is_a","termid":"GO:0032991"},{"rel_name":"part_of","termid":"GO:0032991"},{"rel_name":"is_a","termid":"GO:0005575"}],"interesting_parent_ids":["GO:0032991","GO:0005575","GO:0005737"],"is_obsolete":false,"name":"radial spoke neck","termid":"GO:0120343"}


id: GO:0120272
data:
  {"annotated_genes":["SJAG_02723"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[107031],"is_not":false,"summary":null,"term":"GO:0120272"}]},"cv_name":"biological_process","definition":"Any process that activates or increases the frequency, rate or extent of degradation of meiosis-specific nuclear transcribed transcripts during vegetative growth, by a mechanism that requires determinant of selective removal (DSR) sequences in the targeted mRNAs and involves a YTH family protein.","definition_xrefs":["PMID:24920274","GOC:krc"],"direct_ancestors":[{"relation_name":"is_a","term_name":"positive regulation of mRNA catabolic process","termid":"GO:0061014"},{"relation_name":"is_a","term_name":"regulation of nuclear mRNA surveillance of meiosis-specific transcripts","termid":"GO:0120270"},{"relation_name":"positively_regulates","term_name":"nuclear mRNA surveillance of meiosis-specific transcripts","termid":"GO:0033621"}],"gene_count":1,"genes_by_uniquename":{"SJAG_02723":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"positively_regulates","termid":"GO:0016071"},{"rel_name":"regulates","termid":"GO:0010467"},{"rel_name":"regulates","termid":"GO:0016071"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150","GO:0016071","GO:0010467"],"is_obsolete":false,"name":"positive regulation of nuclear mRNA surveillance of meiosis-specific transcripts","references_by_uniquename":{"GO_REF:0000107":null},"synonyms":[{"name":"positive regulation of nuclear-transcribed mRNA catabolic process, meiosis-specific transcripts","type":"exact"}],"termid":"GO:0120272","terms_by_termid":{"GO:0120272":null}}


id: PBO:0043933
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"cartilage acidic protein 1","termid":"PBO:0043933"}


id: GO:0047519
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: (-)-quinate + pyrroloquinoline-quinone = (-)-3-dehydroquinate + pyrroloquinoline-quinol.","definition_xrefs":["RHEA:23672"],"direct_ancestors":[{"relation_name":"is_a","term_name":"oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor","termid":"GO:0016901"}],"gene_count":0,"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:0016491","GO:0003674","GO:0003824"],"is_obsolete":false,"name":"quinate dehydrogenase (quinone) activity","secondary_identifiers":["KEGG_REACTION:R01873","EC:1.1.5.8","MetaCyc:1.1.99.25-RXN"],"synonyms":[{"name":"NAD(P)-independent quinate dehydrogenase activity","type":"related"},{"name":"quinate:pyrroloquinoline-quinone 5-oxidoreductase activity","type":"related"},{"name":"quinate:quinone 3-oxidoreductase activity","type":"exact"}],"termid":"GO:0047519"}


id: GO:0044341
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The directed movement of phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore, by a mechanism dependent upon sodium ions.","definition_xrefs":["GOC:BHF","GOC:jl"],"direct_ancestors":[{"relation_name":"is_a","term_name":"phosphate ion transport","termid":"GO:0006817"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0051179"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0006810"}],"interesting_parent_ids":["GO:0006810","GO:0008150","GO:0051179"],"is_obsolete":false,"name":"sodium-dependent phosphate transport","termid":"GO:0044341"}


id: PBO:0041312
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"chromosome 2 open reading frame 66","termid":"PBO:0041312"}


id: PBO:0048589
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"gamma-glutamyltransferase light chain family member 3","termid":"PBO:0048589"}


id: GO:1904010
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 an Aroclor 1254 stimulus.","definition_xrefs":["GO_REF:0000071","GOC:TermGenie","PMID:18602130"],"direct_ancestors":[{"relation_name":"is_a","term_name":"response to chemical","termid":"GO:0042221"}],"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 Aroclor 1254","termid":"GO:1904010"}


id: MONDO:0033198
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"hearing loss, autosomal recessive","termid":"MONDO:0019588"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0019497"},{"rel_name":"is_a","termid":"MONDO:0006025"}],"interesting_parent_ids":["MONDO:0019497","MONDO:0006025"],"is_obsolete":false,"name":"hearing loss, autosomal recessive 106","secondary_identifiers":["OMIM:617637","UMLS:C4539954","GARD:22656","MEDGEN:1627111","DOID:0080261"],"synonyms":[{"name":"DFNB106","type":"narrow"},{"name":"autosomal recessive nonsyndromic deafness 106","type":"narrow"},{"name":"deafness autosomal recessive 106","type":"narrow"},{"name":"deafness, autosomal recessive 106","type":"narrow"}],"termid":"MONDO:0033198","xrefs":{"Monarch":{"xref_id":"0033198"}}}


id: PBO:0073652
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"sciatic injury induced lincRNA upregulator of SOX11","termid":"PBO:0073652"}


id: PBO:0003159
data:
  {"annotation_feature_type":"gene","cv_name":"EC numbers","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"3.5.4.6","termid":"PBO:0003159"}


id: GO:0097518
data:
  {"annotated_genes":["SJAG_04887","SJAG_00938","SJAG_02864"],"annotation_feature_type":"gene","cv_annotations":{"cellular_component":[{"annotations":[120018,98640,108504],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0070648"}]},"cv_name":"cellular_component","definition":"An actin filament bundle in which the filaments are tightly packed (approximately 10-20 nm apart) and oriented with the same polarity.","definition_xrefs":["ISBN:0815316194","GOC:mah","GOC:cjm"],"direct_ancestors":[{"relation_name":"is_a","term_name":"actin filament bundle","termid":"GO:0032432"}],"gene_count":3,"genes_by_uniquename":{"SJAG_00938":null,"SJAG_02864":null,"SJAG_04887":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005575"},{"rel_name":"part_of","termid":"GO:0015629"}],"interesting_parent_ids":["GO:0005575","GO:0015629"],"is_obsolete":false,"name":"parallel actin filament bundle","references_by_uniquename":{"GO_REF:0000107":null,"PMID:36148799":null},"termid":"GO:0097518","terms_by_termid":{"GO:0070648":null}}


id: MONDO:1011860
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"nervous system disorder, non-human animal","termid":"MONDO:1011336"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"spastic syndrome, non-human animal","secondary_identifiers":["OMIA:000929"],"termid":"MONDO:1011860","xrefs":{"Monarch":{"xref_id":"1011860"}}}


id: FYECO:0000121
data:
  {"annotation_feature_type":"gene","cv_name":"fission_yeast_phenotype_condition","definition":"An experimental condition in which methylamine was added to the medium or assay buffer in excess compared to standard medium or assay buffers.","definition_xrefs":["PMID:10467002"],"direct_ancestors":[{"relation_name":"is_a","term_name":"grouping excess","termid":"FYECO:0000109"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"+ methylamine","termid":"FYECO:0000121"}


id: PBO:0058351
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 4724","termid":"PBO:0058351"}


id: PBO:0005693
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"midasin (predicted)","termid":"PBO:0005693"}


id: PBO:0083954
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Gamma-tubulin small complex (gamma-TuSC) receptor; recruits the gamma-TuSC complex to the cytoplasmic side of the SPB, connecting nuclear microtubules to the SPB; involved in astral microtubule formation, stabilization, and with Stu2p, anchoring astral MTs at the cytoplasmic face of the SPB, and regulating plus-end MT dynamics; regulated by Cdc5 kinase","termid":"PBO:0083954"}


id: MONDO:0021408
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A polyp that involves the frontal sinus.","definition_xrefs":["MONDO:patterns/location"],"direct_ancestors":[{"relation_name":"is_a","term_name":"paranasal sinus disorder","termid":"MONDO:0001735"},{"relation_name":"is_a","term_name":"polyp","termid":"MONDO:0005079"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"polyp of frontal sinus","secondary_identifiers":["NCIT:C4367","icd11.foundation:1462900314","ICD9:471.8","SCTID:195759002","UMLS:C0339814","MEDGEN:137927"],"synonyms":[{"name":"frontal sinus polyp","type":"exact"},{"name":"polyp of the frontal sinus","type":"exact"}],"termid":"MONDO:0021408","xrefs":{"Monarch":{"xref_id":"0021408"}}}


id: PBO:0068460
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U1 small nuclear 36, pseudogene","termid":"PBO:0068460"}


id: PBO:0089423
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"DNA recombination mediator Rad52 (previously Rad22)","termid":"PBO:0089423"}


id: MOD:01160
data:
  {"annotation_feature_type":"gene","cv_name":"PSI-MOD","definition":"A protein modification that effectively results in the loss of an ammonia, usually by a process of vicinal dehydration, rearrangement, and rehydration with release of ammonia, resulting in a loss of nitrogen with no gain of oxygen.","definition_xrefs":["Unimod:385"],"direct_ancestors":[{"relation_name":"is_a","term_name":"protein modification categorized by chemical process","termid":"MOD:01156"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"deaminated residue","synonyms":[{"name":"Ammonia-loss","type":"related"},{"name":"Loss of ammonia","type":"related"}],"termid":"MOD:01160"}


id: MONDO:0001614
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"lymph node cancer","termid":"MONDO:0001082"}],"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:0004992","MONDO:0005046","MONDO:0005570"],"is_obsolete":false,"name":"intra-abdominal lymph node mast cell malignancy","secondary_identifiers":["ICD9:202.63","UMLS:C0153844","DOID:13005","MEDGEN:509471","SCTID:188664008"],"synonyms":[{"name":"malignant mast cell tumors involving intra-abdominal lymph nodes","type":"exact"},{"name":"malignant mast cell tumours involving intra-abdominal lymph nodes","type":"exact"},{"name":"mast cell malignancy of intra-abdominal lymph nodes","type":"exact"}],"termid":"MONDO:0001614","xrefs":{"Monarch":{"xref_id":"0001614"}}}


id: PR:Q9P790
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A vacuolar protein sorting-associated protein 72 that is encoded in the genome of Schizosaccharomyces pombe 972h-.","definition_xrefs":["OMA:SCHPO02667","PANTHER:PTHR13275:SF4","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":"SWR complex protein 2 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPBP35G2.13c","secondary_identifiers":["UniProtKB:Q9P790"],"synonyms":[{"name":"Spom972h-VPS72","type":"exact"}],"termid":"PR:Q9P790"}


id: PBO:0050982
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"intraflagellar transport 46","termid":"PBO:0050982"}


id: PBO:0082736
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Component of the Rpd3L histone deacetylase complex; zinc-finger inhibitor of HO transcription; mRNA is localized and translated in the distal tip of anaphase cells, resulting in accumulation of Ash1p in daughter cell nuclei and inhibition of HO expression; potential Cdc28p substrate","termid":"PBO:0082736"}


id: PBO:0055582
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 3018","termid":"PBO:0055582"}


id: SO:0001342
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"Isowyosine is a modified guanosine base feature.","direct_ancestors":[{"relation_name":"is_a","term_name":"modified_guanosine","termid":"SO:0001276"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"isowyosine","secondary_identifiers":["RNAMOD:101"],"synonyms":[{"name":"imG2","type":"exact"}],"termid":"SO:0001342"}


id: GO:0160155
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The autophagic process which involves the direct fusion of abnormal, excess or obsolete secretory granules with lysosomes. This pathway is often associated with maintaining homeostasis in endocrine and exocrine cells.","definition_xrefs":["PMID:35452619","PMID:29066608"],"direct_ancestors":[{"relation_name":"is_a","term_name":"autophagy","termid":"GO:0006914"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0006914"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0006914","GO:0008150"],"is_obsolete":false,"name":"crinophagy","termid":"GO:0160155"}


id: GO:0018577
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: catechol + O2 = 2-hydroxymuconate semialdehyde.","definition_xrefs":["RHEA:17337"],"direct_ancestors":[{"relation_name":"is_a","term_name":"oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen","termid":"GO:0016702"}],"gene_count":0,"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:0016491","GO:0003824","GO:0003674"],"is_obsolete":false,"name":"catechol 2,3-dioxygenase activity","secondary_identifiers":["EC:1.13.11.2","MetaCyc:CATECHOL-23-DIOXYGENASE-RXN","UM-BBD_enzymeID:r0307"],"synonyms":[{"name":"2,3-pyrocatechase activity","type":"related"},{"name":"catechol 2,3-oxygenase","type":"related"},{"name":"catechol oxygenase","type":"related"},{"name":"catechol:oxygen 2,3-oxidoreductase (decyclizing)","type":"related"},{"name":"cato2ase activity","type":"related"},{"name":"metapyrocatechase activity","type":"related"},{"name":"pyrocatechol 2,3-dioxygenase","type":"related"}],"termid":"GO:0018577"}


id: FYPO:0001141
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A conjugation phenotype in which regulation of transcription in response to mating pheromone is abolished.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal transcriptional response to pheromone","termid":"FYPO:0000984"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000298"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0000002"}],"interesting_parent_ids":["FYPO:0000298","FYPO:0000002","FYPO:0001985","FYPO:0005447"],"is_obsolete":false,"name":"abolished transcriptional response to pheromone","synonyms":[{"name":"abolished regulation of transcription from RNA polymerase II promoter by pheromones","type":"exact"},{"name":"transcriptional response to pheromone abolished","type":"exact"}],"termid":"FYPO:0001141"}


id: MONDO:1011595
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Rickets that occurs in pig.","definition_xrefs":["MONDO:patterns/nonhuman_disease"],"direct_ancestors":[{"relation_name":"is_a","term_name":"rickets, non-human animal","termid":"MONDO:1011456"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"rickets, pig","secondary_identifiers":["OMIA:002364-9823"],"termid":"MONDO:1011595","xrefs":{"Monarch":{"xref_id":"1011595"}}}


id: PBO:0071554
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein L35a pseudogene 19","termid":"PBO:0071554"}


id: GO:0010517
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of phospholipase activity, the hydrolysis of a phospholipid.","definition_xrefs":["GOC:tb","GOC:BHF","GOC:dph"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of hydrolase activity","termid":"GO:0051336"}],"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 phospholipase activity","termid":"GO:0010517"}


id: PR:O60176
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- cxr1 gene.","definition_xrefs":["UniProtKB:O60176","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":"uncharacterized RNA-binding protein C23E6.01c (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPBC23E6.01c","synonyms":[{"name":"Spom972h-cxr1","type":"exact"}],"termid":"PR:O60176"}


id: PBO:0025511
data:
  {"annotation_feature_type":"gene","cv_name":"disease_associated","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"cytochrome P450 oxidoreductase deficiency","termid":"PBO:0025511"}


id: PBO:0061715
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"NUT family member 2A","termid":"PBO:0061715"}


id: FYPO:0005028
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 dimethylation of lysine at position 20 of histone H4 occurs to a lower extent than normal.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"decreased histone methylation during vegetative growth","termid":"FYPO:0000870"},{"relation_name":"is_a","term_name":"abnormal histone H4-K20 methylation during vegetative growth","termid":"FYPO:0004215"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0002274"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0002494"},{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0001985"}],"interesting_parent_ids":["FYPO:0000002","FYPO:0001320","FYPO:0005447","FYPO:0002274","FYPO:0002494","FYPO:0001985"],"is_obsolete":false,"name":"decreased H4-K20 dimethylation during vegetative growth","synonyms":[{"name":"decreased H4K20me2 during vegetative growth","type":"exact"},{"name":"decreased histone H4-K20 dimethylation during mitotic cell cycle","type":"related"},{"name":"decreased histone H4-K20 dimethylation during vegetative growth","type":"exact"},{"name":"decreased histone lysine H4-K20 dimethylation during vegetative growth","type":"exact"},{"name":"reduced histone H4-K20 dimethylation during vegetative growth","type":"exact"}],"termid":"FYPO:0005028"}


id: GO:1904402
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 nocodazole stimulus.","definition_xrefs":["PMID:17822405","GOC:TermGenie","GO_REF:0000071"],"direct_ancestors":[{"relation_name":"is_a","term_name":"response to ketone","termid":"GO:1901654"},{"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 nocodazole","termid":"GO:1904402"}


id: MONDO:0020131
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete malformation of the cerebellar hemispheres (obsolete MONDO:0020131)","secondary_identifiers":["Orphanet:98516"],"termid":"MONDO:0020131","xrefs":{"Monarch":{"xref_id":"0020131"}}}


id: PBO:0082978
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Cytoplasmic trifunctional enzyme; catalyzes sequential reactions 10-formyl-THF synthetase (EC 6.3.4.3), 5,10-methenyl-THF cyclohydrolase (EC 3.5.4.9), and 5,10-methylene-THF dehydrogenase (EC 1.5.1.5), to supply forms of activated one-carbon units required for biosynthesis of purines, histidine, methionine, pantothenic acid, the formyl group of mitochondrial fMet-tRNAfMet, and the methyl group of thymidylate; null mutation causes auxotrophy for adenine and histidine in rich medium","termid":"PBO:0082978"}


id: GO:0019273
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the formation of L-alanine, via the intermediate ornithine.","definition_xrefs":["GOC:go_curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"ornithine metabolic process","termid":"GO:0006591"},{"relation_name":"is_a","term_name":"L-alanine biosynthetic process","termid":"GO:0042852"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0044281"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0006520"}],"interesting_parent_ids":["GO:0044281","GO:0006520","GO:0008150"],"is_obsolete":false,"name":"L-alanine biosynthetic process via ornithine","synonyms":[{"name":"L-alanine anabolism via ornithine","type":"exact"},{"name":"L-alanine formation via ornithine","type":"exact"},{"name":"L-alanine synthesis via ornithine","type":"exact"}],"termid":"GO:0019273"}


id: GO:0048702
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process in which the anatomical structures of the neurocranium are generated and organized during the embryonic phase. The neurocranium is the portion of the vertebrate skull surrounding the brain.","definition_xrefs":["GOC:dsf","GOC:jid","PMID:16049113"],"direct_ancestors":[{"relation_name":"is_a","term_name":"embryonic morphogenesis","termid":"GO:0048598"},{"relation_name":"part_of","term_name":"embryonic cranial skeleton morphogenesis","termid":"GO:0048701"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"embryonic neurocranium morphogenesis","synonyms":[{"name":"embryonic braincase morphogenesis","type":"exact"},{"name":"embryonic chondrocranium morphogenesis","type":"exact"}],"termid":"GO:0048702"}


id: GO:0005534
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Binding to aldohexose galactose (galacto-hexose), a common constituent of many oligo- and polysaccharides.","definition_xrefs":["ISBN:0198506732","GOC:jl"],"direct_ancestors":[{"relation_name":"is_a","term_name":"monosaccharide binding","termid":"GO:0048029"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005488"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0005488","GO:0003674"],"is_obsolete":false,"name":"galactose binding","synonyms":[{"name":"galactose binding lectin","type":"related"}],"termid":"GO:0005534"}


id: PBO:0038423
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"A2M antisense RNA 1","termid":"PBO:0038423"}


id: PBO:0109379
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 10","termid":"PBO:0109379"}


id: GO:0033590
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 cobalamin (vitamin B12) stimulus.","definition_xrefs":["GOC:sl"],"direct_ancestors":[{"relation_name":"is_a","term_name":"response to vitamin","termid":"GO:0033273"},{"relation_name":"is_a","term_name":"response to nitrogen compound","termid":"GO:1901698"},{"relation_name":"is_a","term_name":"response to oxygen-containing compound","termid":"GO:1901700"}],"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 cobalamin","synonyms":[{"name":"response to vitamin B12","type":"exact"}],"termid":"GO:0033590"}


id: PATO:0000437
data:
  {"annotation_feature_type":"gene","cv_name":"quality","gene_count":0,"genotype_count":0,"name":"OBSOLETE PATO:0000437 sleep pattern value (obsolete PATO:0000437)","termid":"PATO:0000437"}


id: MONDO:0026173
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete rare genetic medullar disease (obsolete MONDO:0026173)","secondary_identifiers":["Orphanet:183515"],"termid":"MONDO:0026173","xrefs":{"Monarch":{"xref_id":"0026173"}}}


id: PBO:0091186
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"cytochrome c oxidase subunit 3","termid":"PBO:0091186"}


id: MONDO:0000375
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A carcinoma in situ involving a bronchus.","definition_xrefs":["MONDO:patterns/carcinoma_in_situ"],"direct_ancestors":[{"relation_name":"is_a","term_name":"bronchogenic carcinoma","termid":"MONDO:0002806"},{"relation_name":"is_a","term_name":"lung carcinoma in situ","termid":"MONDO:0004660"}],"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":"bronchus carcinoma in situ","secondary_identifiers":["SCTID:92557009","MEDGEN:754440","DOID:0050614","UMLS:C2939445"],"synonyms":[{"name":"bronchus in situ carcinoma","type":"exact"},{"name":"carcinoma in situ of bronchus","type":"exact"},{"name":"stage 0 bronchus carcinoma","type":"exact"}],"termid":"MONDO:0000375","xrefs":{"Monarch":{"xref_id":"0000375"}}}


id: PBO:0047484
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ferredoxin 1","termid":"PBO:0047484"}


id: MONDO:0005289
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A benign or malignant neoplasm that affects the paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma.","definition_xrefs":["NCIT:C7488"],"direct_ancestors":[{"relation_name":"is_a","term_name":"paranasal sinus disorder","termid":"MONDO:0001735"},{"relation_name":"is_a","term_name":"skull neoplasm","termid":"MONDO:0024653"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"paranasal sinus neoplasm","secondary_identifiers":["UMLS:C0030470","EFO:0003866","MEDGEN:18296","HP:0030072","SCTID:126675008","DOID:1350"],"synonyms":[{"name":"accessory sinus neoplasm","type":"exact"},{"name":"accessory sinus tumor","type":"exact"},{"name":"accessory sinus tumour","type":"exact"},{"name":"neoplasm of accessory sinus","type":"exact"},{"name":"neoplasm of paranasal sinus","type":"exact"},{"name":"neoplasm of the accessory sinus","type":"exact"},{"name":"neoplasm of the paranasal sinus","type":"exact"},{"name":"paranasal sinus neoplasm","type":"exact"},{"name":"paranasal sinus neoplasm (disease)","type":"exact"},{"name":"paranasal sinus neoplasms","type":"exact"},{"name":"paranasal sinus tumor","type":"exact"},{"name":"paranasal sinus tumour","type":"exact"},{"name":"tumor of accessory sinus","type":"exact"},{"name":"tumor of paranasal sinus","type":"exact"},{"name":"tumor of the accessory sinus","type":"exact"},{"name":"tumor of the paranasal sinus","type":"exact"},{"name":"tumour of accessory sinus","type":"exact"},{"name":"tumour of paranasal sinus","type":"exact"},{"name":"tumour of the accessory sinus","type":"exact"},{"name":"tumour of the paranasal sinus","type":"exact"}],"termid":"MONDO:0005289","xrefs":{"Monarch":{"xref_id":"0005289"}}}


id: PBO:0073388
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"SET domain containing 4","termid":"PBO:0073388"}


id: PBO:0017507
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"WD repeat protein, human DDB1 and CUL4-associated factor 4 ortholog Wdr21","termid":"PBO:0017507"}


id: MONDO:1011249
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Retinoschisis that occurs in dog.","definition_xrefs":["MONDO:patterns/nonhuman_disease"],"direct_ancestors":[{"relation_name":"is_a","term_name":"retinoschisis, non-human animal","termid":"MONDO:1010328"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"retinoschisis, dog","secondary_identifiers":["OMIA:001185-9615"],"termid":"MONDO:1011249","xrefs":{"Monarch":{"xref_id":"1011249"}}}


id: GO:0014881
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the size of myofibrils. A myofibril is the contractile element of skeletal and cardiac muscle. It is a long, highly organized bundle of actin, myosin, and other proteins that contracts by a sliding filament mechanism.","definition_xrefs":["GOC:tb","GOC:ef","GOC:mtg_muscle","GOC:dph"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of muscle hypertrophy","termid":"GO:0014743"},{"relation_name":"is_a","term_name":"regulation of cellular component size","termid":"GO:0032535"}],"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 myofibril size","synonyms":[{"name":"change of myofibril size","type":"exact"}],"termid":"GO:0014881"}


id: GO:0018608
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"OBSOLETE. Catalysis of the reaction: 1-indanone + NADPH + 1/2 O2 = NADP+ + 3-hydroxy-1-indanone.","definition_xrefs":["UM-BBD_reactionID:r0416"],"gene_count":0,"genotype_count":0,"name":"obsolete 1-indanone dioxygenase activity (obsolete GO:0018608)","termid":"GO:0018608"}


id: PBO:0054010
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 1340","termid":"PBO:0054010"}


id: PBO:0039548
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ANKRD44 antisense RNA 1","termid":"PBO:0039548"}


id: FYPO:0000664
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A molecular function phenotype in which a specified catalytic activity is absent.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal catalytic activity","termid":"FYPO:0000661"},{"relation_name":"is_a","term_name":"abolished molecular function","termid":"FYPO:0005446"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000707"},{"rel_name":"is_a","termid":"FYPO:0000652"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0000654"},{"rel_name":"is_a","termid":"FYPO:0000661"}],"interesting_parent_ids":["FYPO:0001985","FYPO:0000654","FYPO:0000661","FYPO:0000707","FYPO:0000652"],"is_obsolete":false,"name":"abolished catalytic activity","synonyms":[{"name":"catalytic activity abolished","type":"exact"}],"termid":"FYPO:0000664"}


id: PBO:0069542
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U6 small nuclear 812, pseudogene","termid":"PBO:0069542"}


id: GO:0032075
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that activates or increases the frequency, rate or extent of nuclease activity, the hydrolysis of ester linkages within nucleic acids.","definition_xrefs":["GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"positive regulation of catalytic activity","termid":"GO:0043085"},{"relation_name":"is_a","term_name":"positive regulation of nucleobase-containing compound metabolic process","termid":"GO:0045935"}],"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 nuclease activity","synonyms":[{"name":"activation of nuclease activity","type":"narrow"},{"name":"nuclease activator","type":"related"},{"name":"stimulation of nuclease activity","type":"narrow"},{"name":"up regulation of nuclease activity","type":"exact"},{"name":"up-regulation of nuclease activity","type":"exact"},{"name":"upregulation of nuclease activity","type":"exact"}],"termid":"GO:0032075"}


id: PBO:0080193
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"VENT homeobox pseudogene 1","termid":"PBO:0080193"}


id: MONDO:0800405
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"An inherited retinopathy caused by bi-allelic variants in the CNGA1 gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"inherited retinal dystrophy","termid":"MONDO:0019118"}],"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":"CNGA1-related retinopathy","termid":"MONDO:0800405","xrefs":{"Monarch":{"xref_id":"0800405"}}}


id: GO:0071320
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 cAMP (cyclic AMP, adenosine 3',5'-cyclophosphate) stimulus.","definition_xrefs":["GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"response to cAMP","termid":"GO:0051591"},{"relation_name":"is_a","term_name":"cellular response to nitrogen compound","termid":"GO:1901699"},{"relation_name":"is_a","term_name":"cellular response to oxygen-containing compound","termid":"GO:1901701"}],"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 cAMP","synonyms":[{"name":"cellular response to 3',5' cAMP","type":"exact"},{"name":"cellular response to 3',5'-cAMP","type":"exact"},{"name":"cellular response to adenosine 3',5'-cyclophosphate","type":"exact"},{"name":"cellular response to cyclic AMP","type":"exact"}],"termid":"GO:0071320"}


id: GO:0140968
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Enables the transfer of various organic cations in exchange for a proton, according to the reaction: H+(out) + organic cation(in) = H+(in) + organic cation(out). The transported substrates are usually toxic molecules, drugs and xenobiotics.","definition_xrefs":["PMID:17047166","PMID:17509534"],"direct_ancestors":[{"relation_name":"is_a","term_name":"proton transmembrane transporter activity","termid":"GO:0015078"},{"relation_name":"is_a","term_name":"antiporter activity","termid":"GO:0015297"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0005215"},{"rel_name":"is_a","termid":"GO:0022857"}],"interesting_parent_ids":["GO:0003674","GO:0005215","GO:0022857"],"is_obsolete":false,"name":"polyspecific organic cation:proton antiporter activity","secondary_identifiers":["TC:2.A.66.1.20"],"synonyms":[{"name":"proton:polyspecific organic cation antiporter activity","type":"related"}],"termid":"GO:0140968"}


id: PBO:0045430
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"DPY19L1 pseudogene 1","termid":"PBO:0045430"}


id: MONDO:0044237
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete hypercholesterolemia suppressor (obsolete MONDO:0044237)","secondary_identifiers":["OMIM:144020"],"synonyms":[{"name":"hypercholesterolemia suppressor","type":"related"}],"termid":"MONDO:0044237","xrefs":{"Monarch":{"xref_id":"0044237"}}}


id: MONDO:0019379
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete st. Louis encephalitis (obsolete MONDO:0019379)","termid":"MONDO:0019379","xrefs":{"Monarch":{"xref_id":"0019379"}}}


id: PBO:0078791
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"tRNA-Asn (GTT) 14-1","termid":"PBO:0078791"}


id: PBO:0086706
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Putative protein of unknown function; mCherry fusion protein localizes to the cytosol and nucleus","termid":"PBO:0086706"}


id: GO:0106388
data:
  {"annotated_genes":["SJAG_03755"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[57333],"is_not":false,"summary":null,"term":"GO:0106388"}]},"cv_name":"molecular_function","definition":"Catalysis of the reaction: N1-methylpseudouridine in small subunit rRNA + S-adenosyl-L-methionine = H+ + N1-methyl-N3-[(3S)-3-amino-3-carboxypropyl]pseudouridine in small subunit rRNA + S-methyl-5'-thioadenosine.","definition_xrefs":["RHEA:63296","PMID:27084949"],"direct_ancestors":[{"relation_name":"is_a","term_name":"transferase activity, transferring alkyl or aryl (other than methyl) groups","termid":"GO:0016765"},{"relation_name":"is_a","term_name":"catalytic activity, acting on a rRNA","termid":"GO:0140102"}],"gene_count":1,"genes_by_uniquename":{"SJAG_03755":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0016765"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0016740"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0140098"}],"interesting_parent_ids":["GO:0016740","GO:0140098","GO:0003824","GO:0003674","GO:0016765"],"is_obsolete":false,"name":"rRNA small subunit aminocarboxypropyltransferase activity","references_by_uniquename":{"GO_REF:0000002":null},"secondary_identifiers":["EC:2.5.1.157"],"synonyms":[{"name":"18S rRNA aminocarboxypropyltransferase activity","type":"narrow"}],"termid":"GO:0106388","terms_by_termid":{"GO:0106388":null}}


id: GO:0008516
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: hexose(out) = hexose(in).","definition_xrefs":["TC:2.A.1.1.5"],"direct_ancestors":[{"relation_name":"is_a","term_name":"hexose transmembrane transporter activity","termid":"GO:0015149"},{"relation_name":"is_a","term_name":"uniporter activity","termid":"GO:0015292"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005215"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0022857"}],"interesting_parent_ids":["GO:0003674","GO:0005215","GO:0022857"],"is_obsolete":false,"name":"hexose uniporter activity","termid":"GO:0008516"}


id: GO:1902935
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"A process in which a protein is transported to, or maintained in, a location within a septin ring.","definition_xrefs":["GO_REF:0000087","GOC:TermGenie","PMID:16325501"],"direct_ancestors":[{"relation_name":"is_a","term_name":"protein localization to cytoskeleton","termid":"GO:0044380"},{"relation_name":"is_a","term_name":"protein localization to cell cortex","termid":"GO:0072697"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0051179"}],"interesting_parent_ids":["GO:0051179","GO:0008150"],"is_obsolete":false,"name":"protein localization to septin ring","synonyms":[{"name":"protein localisation in septin ring","type":"exact"},{"name":"protein localisation to septin ring","type":"exact"},{"name":"protein localization in septin ring","type":"exact"}],"termid":"GO:1902935"}


id: GO:2000584
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents or reduces the frequency, rate or extent of platelet-derived growth factor receptor-alpha signaling pathway.","definition_xrefs":["GOC:obol","GOC:yaf"],"direct_ancestors":[{"relation_name":"is_a","term_name":"negative regulation of platelet-derived growth factor receptor signaling pathway","termid":"GO:0010642"},{"relation_name":"is_a","term_name":"regulation of platelet-derived growth factor receptor-alpha signaling pathway","termid":"GO:2000583"},{"relation_name":"negatively_regulates","term_name":"platelet-derived growth factor receptor-alpha signaling pathway","termid":"GO:0035790"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"regulates","termid":"GO:0023052"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"negatively_regulates","termid":"GO:0023052"}],"interesting_parent_ids":["GO:0008150","GO:0023052"],"is_obsolete":false,"name":"negative regulation of platelet-derived growth factor receptor-alpha signaling pathway","synonyms":[{"name":"negative regulation of PDGF receptor-alpha signaling pathway","type":"exact"},{"name":"negative regulation of PDGFR-alpha signaling pathway","type":"related"},{"name":"negative regulation of alphaPDGF receptor signaling pathway","type":"exact"},{"name":"negative regulation of platelet-derived growth factor receptor-alpha signalling pathway","type":"exact"}],"termid":"GO:2000584"}


id: PBO:0087600
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Subunit of the BLOC-1 complex involved in endosomal maturation; interacts with Vps21p-GFP; has potential role in vacuolar function, as suggested by its ability to bind Vac8p; likely member of; Vab2p-GFP-fusion localizes to cytoplasm in punctate pattern","termid":"PBO:0087600"}


id: MONDO:0859313
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"Mendelian neurodevelopmental disorder","termid":"MONDO:0100500"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0700092"}],"interesting_parent_ids":["MONDO:0700092"],"is_obsolete":false,"name":"neurodevelopmental disorder with speech impairment and with or without seizures","secondary_identifiers":["MEDGEN:1824025","OMIM:620114","UMLS:C5774252"],"termid":"MONDO:0859313","xrefs":{"Monarch":{"xref_id":"0859313"}}}


id: PBO:0041469
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"chromosome 11 open reading frame 21","termid":"PBO:0041469"}


id: GO:0005793
data:
  {"annotated_genes":["SJAG_04021","SJAG_02655","SJAG_01415","SJAG_00751","SJAG_02839","SJAG_02120","SJAG_01642","SJAG_03467","SJAG_04598","SJAG_01116","SJAG_04406","SJAG_04196","SJAG_01991","SJAG_01508","SJAG_03270","SJAG_04618","SJAG_04837","SJAG_00357","SJAG_04391","SJAG_02525"],"annotation_feature_type":"gene","cv_annotations":{"cellular_component":[{"annotations":[70443,72706,74826,75497,77284,78749,79076,79610,93589,111129,118025,119197],"is_not":false,"summary":null,"term":"GO:0005793"},{"annotations":[73271],"is_not":false,"rel_names":["part_of"],"summary":null,"term":"GO:0033116"},{"annotations":[97659,89014,89700,102889,110204,75440,99459],"is_not":false,"rel_names":["part_of"],"summary":null,"term":"GO:1990070"}]},"cv_name":"cellular_component","definition":"A complex system of membrane-bounded compartments located between endoplasmic reticulum (ER) and the Golgi complex, with a distinctive membrane protein composition; involved in ER-to-Golgi and Golgi-to-ER transport.","definition_xrefs":["GOC:pr","PMID:16723730"],"direct_ancestors":[{"relation_name":"is_a","term_name":"intracellular membrane-bounded organelle","termid":"GO:0043231"},{"relation_name":"part_of","term_name":"cytoplasm","termid":"GO:0005737"}],"gene_count":20,"genes_by_uniquename":{"SJAG_00357":null,"SJAG_00751":null,"SJAG_01116":null,"SJAG_01415":null,"SJAG_01508":null,"SJAG_01642":null,"SJAG_01991":null,"SJAG_02120":null,"SJAG_02525":null,"SJAG_02655":null,"SJAG_02839":null,"SJAG_03270":null,"SJAG_03467":null,"SJAG_04021":null,"SJAG_04196":null,"SJAG_04391":null,"SJAG_04406":null,"SJAG_04598":null,"SJAG_04618":null,"SJAG_04837":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005575"},{"rel_name":"part_of","termid":"GO:0005737"}],"interesting_parent_ids":["GO:0005575","GO:0005737"],"is_obsolete":false,"name":"endoplasmic reticulum-Golgi intermediate compartment","references_by_uniquename":{"GO_REF:0000033":null,"GO_REF:0000107":null},"secondary_identifiers":["Wikipedia:Vesicular-tubular_cluster"],"synonyms":[{"name":"EGTC","type":"exact"},{"name":"ER-Golgi intermediate compartment","type":"exact"},{"name":"ER-Golgi transport container","type":"exact"},{"name":"ERGIC","type":"exact"},{"name":"VTC","type":"exact"},{"name":"endoplasmic reticulum-Golgi transport container","type":"exact"},{"name":"pre-Golgi intermediate compartment","type":"exact"},{"name":"vesicular-tubular cluster","type":"exact"}],"termid":"GO:0005793","terms_by_termid":{"GO:0005793":null,"GO:0033116":null,"GO:1990070":null}}


id: PBO:0110103
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"human leukocyte receptor 1 ortholog, implicated in mRNA splicing","termid":"PBO:0110103"}


id: MONDO:0001243
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A pathological process where the blood starts to coagulate throughout the whole body. This depletes the body of its platelets and coagulation factors, and there is an increased risk of hemorrhage.","definition_xrefs":["NCIT:C2992"],"direct_ancestors":[{"relation_name":"is_a","term_name":"thrombophilia","termid":"MONDO:0002305"}],"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":"disseminated intravascular coagulation","secondary_identifiers":["icd11.foundation:1622289887","NANDO:2200639","UMLS:C0012739","DOID:11247","ICD9:286.6","SCTID:67406007","MEDGEN:41620","MESH:D004211"],"synonyms":[{"name":"DIC","type":"exact"},{"name":"DIC, disseminated intravascular coagulation","type":"exact"},{"name":"coagulation (DIC), disseminated intravascular","type":"exact"},{"name":"consumptive coagulopathy","type":"exact"},{"name":"defibrination syndrome","type":"exact"},{"name":"diffuse or disseminated intravascular coagulation","type":"exact"},{"name":"disseminated intravascular coagulation","type":"exact"},{"name":"disseminated intravascular coagulation (DIC)","type":"exact"},{"name":"intravascular coagulation (DIC), disseminated","type":"exact"}],"termid":"MONDO:0001243","xrefs":{"Monarch":{"xref_id":"0001243"}}}


id: MONDO:0004445
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a papillary pattern.","definition_xrefs":["NCIT:C39848"],"direct_ancestors":[{"relation_name":"is_a","term_name":"bladder clear cell adenocarcinoma","termid":"MONDO:0003386"}],"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 papillary clear cell adenocarcinoma","secondary_identifiers":["DOID:8051","MEDGEN:307286","UMLS:C1511196"],"synonyms":[{"name":"bladder papillary clear cell adenocarcinoma","type":"exact"}],"termid":"MONDO:0004445","xrefs":{"Monarch":{"xref_id":"0004445"}}}


id: PBO:0064998
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"PR/SET domain 5","termid":"PBO:0064998"}


id: PBO:0012302
data:
  {"annotation_feature_type":"gene","cv_name":"complementation","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"functionally complemented by S. cerevisiae SRV2","termid":"PBO:0012302"}


id: PR:Q9Y7R5
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"An insulin-induced gene 1 protein that is encoded in the genome of Schizosaccharomyces pombe 972h-.","definition_xrefs":["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":"INSIG family protein (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPCC306.05c","secondary_identifiers":["UniProtKB:Q9Y7R5"],"synonyms":[{"name":"SPCC306.05c","type":"related"},{"name":"Spom972h-INSIG1","type":"exact"}],"termid":"PR:Q9Y7R5"}


id: MOD:00509
data:
  {"annotation_feature_type":"gene","cv_name":"PSI-MOD","definition":"modification from Unimod Chemical derivative","definition_xrefs":["PubMed:12643539","PubMed:6273432","Unimod:141"],"direct_ancestors":[{"relation_name":"is_a","term_name":"reagent derivatized residue","termid":"MOD:00848"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"amidination of lysines or N-terminal amines with methyl acetimidate","synonyms":[{"name":"Amidine","type":"related"},{"name":"amidination of lysines or N-terminal amines with methyl acetimidate","type":"related"}],"termid":"MOD:00509"}


id: GO:0150138
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents or reduces the frequency, rate or extent of interleukin-37 production.","definition_xrefs":["PMID:30362558","GOC:aruk"],"direct_ancestors":[{"relation_name":"is_a","term_name":"negative regulation of cytokine production","termid":"GO:0001818"},{"relation_name":"is_a","term_name":"regulation of interleukin-37 production","termid":"GO:0150136"},{"relation_name":"negatively_regulates","term_name":"interleukin-37 production","termid":"GO:0150137"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"negatively_regulates","termid":"GO:0010467"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"regulates","termid":"GO:0010467"}],"interesting_parent_ids":["GO:0010467","GO:0008150"],"is_obsolete":false,"name":"negative regulation of interleukin-37 production","synonyms":[{"name":"negative regulation of interleukin-37 biosynthetic process","type":"narrow"}],"termid":"GO:0150138"}


id: GO:0046908
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. Any process that stops, prevents, or reduces the frequency, rate or extent of the spontaneous (nonenzymatic) formation of crystals in a solution, for example, calcium oxalate crystals in urine.","definition_xrefs":["GOC:ai"],"gene_count":0,"genotype_count":0,"name":"obsolete negative regulation of crystal formation (obsolete GO:0046908)","synonyms":[{"name":"negative regulation of crystal formation","type":"exact"},{"name":"negative regulation of mineralization","type":"related"}],"termid":"GO:0046908"}


id: PBO:0039038
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"AGBL carboxypeptidase 1","termid":"PBO:0039038"}


id: PBO:0028610
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-abnormal_urease_activity","termid":"PBO:0028610"}


id: GO:0008721
data:
  {"annotated_genes":["SJAG_04827"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[79306],"is_not":false,"summary":null,"term":"GO:0008721"}]},"cv_name":"molecular_function","definition":"Catalysis of the reaction: D-serine = pyruvate + NH3.","definition_xrefs":["EC:4.3.1.18"],"direct_ancestors":[{"relation_name":"is_a","term_name":"ammonia-lyase activity","termid":"GO:0016841"}],"gene_count":1,"genes_by_uniquename":{"SJAG_04827":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0016829"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0003674","GO:0016829","GO:0003824"],"is_obsolete":false,"name":"D-serine ammonia-lyase activity","references_by_uniquename":{"GO_REF:0000033":null},"secondary_identifiers":["RHEA:13977","Reactome:R-HSA-9014741","Reactome:R-HSA-9034539","MetaCyc:DSERDEAM-RXN"],"synonyms":[{"name":"D-hydroxy amino acid dehydratase activity","type":"broad"},{"name":"D-hydroxyaminoacid dehydratase activity","type":"related"},{"name":"D-serine ammonia-lyase (pyruvate-forming)","type":"related"},{"name":"D-serine deaminase activity","type":"related"},{"name":"D-serine dehydrase activity","type":"related"},{"name":"D-serine dehydratase (deaminating) activity","type":"related"},{"name":"D-serine dehydratase activity","type":"related"},{"name":"D-serine dehydration activity","type":"related"},{"name":"D-serine hydro-lyase (deaminating) activity","type":"related"},{"name":"D-serine hydrolase activity","type":"related"}],"termid":"GO:0008721","terms_by_termid":{"GO:0008721":null}}


id: MONDO:0021291
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A in situ carcinoma that involves the fundus of stomach.","definition_xrefs":["MONDO:patterns/location"],"direct_ancestors":[{"relation_name":"is_a","term_name":"gastric fundus carcinoma","termid":"MONDO:0003970"},{"relation_name":"is_a","term_name":"stomach carcinoma in situ","termid":"MONDO:0004716"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0004992"},{"rel_name":"is_a","termid":"MONDO:0004335"}],"interesting_parent_ids":["MONDO:0004335","MONDO:0004992"],"is_obsolete":false,"name":"carcinoma in situ of fundus of stomach","secondary_identifiers":["SCTID:92598002","MEDGEN:91053","UMLS:C0345800","NCIT:C4429"],"synonyms":[{"name":"carcinoma in situ of fundus of stomach","type":"exact"},{"name":"carcinoma in situ of gastric fundus","type":"exact"},{"name":"carcinoma in situ of the fundus of the stomach","type":"exact"},{"name":"carcinoma in situ of the gastric fundus","type":"exact"},{"name":"fundus of stomach carcinoma in situ","type":"exact"},{"name":"fundus of stomach in situ carcinoma","type":"exact"},{"name":"gastric fundus carcinoma in situ","type":"exact"},{"name":"gastric fundus carcinoma in situ aJCC v6 and v7","type":"exact"},{"name":"stage 0 fundus of stomach carcinoma","type":"exact"},{"name":"stage 0 gastric fundus carcinoma","type":"exact"}],"termid":"MONDO:0021291","xrefs":{"Monarch":{"xref_id":"0021291"}}}


id: PBO:0063190
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"prostate cancer associated transcript 2","termid":"PBO:0063190"}


id: PBO:0062686
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"olfactory receptor family 51 subfamily A member 7","termid":"PBO:0062686"}


id: MONDO:0044218
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete beeturia (obsolete MONDO:0044218)","secondary_identifiers":["OMIM:109600"],"synonyms":[{"name":"BEETURIA","type":"related"},{"name":"Betacyaninuria","type":"related"}],"termid":"MONDO:0044218","xrefs":{"Monarch":{"xref_id":"0044218"}}}


id: PBO:0089641
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"dual-specifity cAMP/cGMP phosphodiesterase Cgs2","termid":"PBO:0089641"}


id: PBO:0052162
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"potassium inwardly rectifying channel subfamily J member 10","termid":"PBO:0052162"}


id: GO:0010811
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that increases the frequency, rate or extent of cell-substrate adhesion. Cell-substrate adhesion is the attachment of a cell to the underlying substrate via adhesion molecules.","definition_xrefs":["GOC:tb","GOC:dph","GOC:pf"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of cell-substrate adhesion","termid":"GO:0010810"},{"relation_name":"is_a","term_name":"positive regulation of cell adhesion","termid":"GO:0045785"},{"relation_name":"positively_regulates","term_name":"cell-substrate adhesion","termid":"GO:0031589"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"regulates","termid":"GO:0007155"},{"rel_name":"positively_regulates","termid":"GO:0007155"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0007155","GO:0008150"],"is_obsolete":false,"name":"positive regulation of cell-substrate adhesion","termid":"GO:0010811"}


id: PBO:0074259
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"solute carrier organic anion transporter family member 4A1","termid":"PBO:0074259"}


id: PBO:0087781
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Subunit VIII of cytochrome c oxidase (Complex IV); Complex IV is the terminal member of the mitochondrial inner membrane electron transport chain","termid":"PBO:0087781"}


id: PBO:0028854
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-increased_RNA_level_during_glucose_starvation","termid":"PBO:0028854"}


id: GO:0009462
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"OBSOLETE. A cytochrome in which the prosthetic group is a tetrapyrrolic chelate of iron in which the degree of conjugation of double bonds is less than in porphyrin. This definition would appear to include siroheme proteins (e.g. nitrite and sulfite reductases), but these are not cytochromes.","definition_xrefs":["PMID:1655423","GOC:kd"],"gene_count":0,"genotype_count":0,"name":"obsolete cytochrome d (obsolete GO:0009462)","synonyms":[{"name":"cytochrome d","type":"exact"}],"termid":"GO:0009462"}


id: PBO:0000492
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"sporulation protein Spo15","termid":"PBO:0000492"}


id: GO:0034947
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"OBSOLETE. Catalysis of the reaction: terephthalate + H2O = benzoate + HCO3-.","definition_xrefs":["GOC:curators"],"gene_count":0,"genotype_count":0,"name":"obsolete terephthalate decarboxylase activity (obsolete GO:0034947)","termid":"GO:0034947"}


id: MONDO:0009774
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations.","definition_xrefs":["Orphanet:93929"],"direct_ancestors":[{"relation_name":"is_a","term_name":"syndromic disease","termid":"MONDO:0002254"},{"relation_name":"is_a","term_name":"exstrophy-epispadias complex","termid":"MONDO:0017919"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005240"}],"interesting_parent_ids":["MONDO:0005240"],"is_obsolete":false,"name":"cloacal exstrophy","secondary_identifiers":["NANDO:2200950","NANDO:2200951","SCTID:20815007","UMLS:C0345217","NANDO:1200910","ICD9:759.89","DOID:0080175","GARD:4080","icd11.foundation:2004612103","MESH:C537748","MedDRA:10067424","NANDO:1200909","MEDGEN:83377","HP:0010475"],"synonyms":[{"name":"OEIS complex","type":"related"},{"name":"OEIS syndrome","type":"related"},{"name":"cloacal exstrophy","type":"exact"},{"name":"cloacal exstrophy (disease)","type":"exact"},{"name":"cloacal exstrophy sequence","type":"related"},{"name":"omphalocele - cloacal exstrophy - imperforate anus - spinal defect","type":"related"},{"name":"omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects","type":"related"},{"name":"omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex","type":"related"},{"name":"omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome","type":"exact"},{"name":"omphalocele-exstrophy-imperforate anus-spinal defects","type":"related"}],"termid":"MONDO:0009774","xrefs":{"Monarch":{"xref_id":"0009774"}}}


id: PBO:0035865
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-decreased_rate_of_protein_movement_within_plasma_membrane_at_cell_side","termid":"PBO:0035865"}


id: MONDO:0010305
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.","definition_xrefs":["Orphanet:52503"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cerebral creatine deficiency syndrome","termid":"MONDO:0000456"},{"relation_name":"is_a","term_name":"multiple congenital anomalies/dysmorphic syndrome-intellectual disability","termid":"MONDO:0015159"},{"relation_name":"is_a","term_name":"developmental anomaly of metabolic origin","termid":"MONDO:0015327"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005066"},{"rel_name":"is_a","termid":"MONDO:0004736"}],"interesting_parent_ids":["MONDO:0005066","MONDO:0004736"],"is_obsolete":false,"name":"creatine transporter deficiency","secondary_identifiers":["OMIM:300352","ICD9:758.81","MESH:C535598","NANDO:1201035","MEDGEN:337451","SCTID:698290008","GARD:1608","UMLS:C1845862","DOID:0050800","NANDO:2201301","NCIT:C125665"],"synonyms":[{"name":"CCDS1","type":"related"},{"name":"SLC6A8 deficiency","type":"exact"},{"name":"X-linked creatine deficiency","type":"related"},{"name":"X-linked creatine deficiency syndrome","type":"related"},{"name":"X-linked creatine transporter deficiency","type":"related"},{"name":"cerebral creatine deficiency syndrome 1","type":"exact"},{"name":"cerebral creatine deficiency syndrome 1, X-linked recessive","type":"exact"},{"name":"cerebral creatine deficiency syndrome type 1","type":"exact"},{"name":"creatine deficiency syndrome, X-linked","type":"related"},{"name":"creatine deficiency, X-linked","type":"related"},{"name":"creatine transporter defect","type":"related"},{"name":"creatine transporter deficiency","type":"exact"},{"name":"intellectual disability, X-linked with seizures, short stature and midface hypoplasia","type":"related"},{"name":"intellectual disability, X-linked, with creatine Transport deficiency","type":"related"},{"name":"intellectual disability, X-linked, with creatine transport deficiency","type":"related"},{"name":"intellectual disability, X-linked, with seizures, short stature, and midface hypoplasia","type":"related"},{"name":"mental retardation, X-linked with seizures, short stature and midface hypoplasia","type":"related"},{"name":"mental retardation, X-linked, with creatine Transport deficiency","type":"related"},{"name":"mental retardation, X-linked, with creatine transport deficiency","type":"related"},{"name":"mental retardation, X-linked, with seizures, short stature, and midface hypoplasia","type":"related"}],"termid":"MONDO:0010305","xrefs":{"Monarch":{"xref_id":"0010305"}}}


id: GO:1900587
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the formation of arugosin.","definition_xrefs":["GOC:di","GOC:TermGenie"],"direct_ancestors":[{"relation_name":"is_a","term_name":"secondary metabolite biosynthetic process","termid":"GO:0044550"},{"relation_name":"is_a","term_name":"arugosin metabolic process","termid":"GO:1900585"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0019748"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0019748","GO:0008150"],"is_obsolete":false,"name":"arugosin biosynthetic process","synonyms":[{"name":"arugosin anabolism","type":"exact"},{"name":"arugosin biosynthesis","type":"exact"},{"name":"arugosin formation","type":"exact"},{"name":"arugosin synthesis","type":"exact"}],"termid":"GO:1900587"}


id: MONDO:0011291
data:
  {"annotated_genes":["SJAG_03656"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[85599],"is_not":false,"summary":null,"term":"MONDO:0011291"}]},"cv_name":"mondo","definition":"A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3).","definition_xrefs":["Orphanet:79320"],"direct_ancestors":[{"relation_name":"is_a","term_name":"congenital disorder of glycosylation type I","termid":"MONDO:0005500"},{"relation_name":"is_a","term_name":"disorder of protein N-glycosylation","termid":"MONDO:0017740"}],"gene_count":1,"genes_by_uniquename":{"SJAG_03656":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005066"},{"rel_name":"is_a","termid":"MONDO:0024322"}],"interesting_parent_ids":["MONDO:0005066","MONDO:0024322"],"is_obsolete":false,"name":"ALG6-congenital disorder of glycosylation 1C","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["DOID:0080555","MEDGEN:443952","MESH:C535741","NCIT:C126869","UMLS:C2930997","GARD:9829","SCTID:709412006","OMIM:603147"],"synonyms":[{"name":"ALG6 congenital disorder of glycosylation","type":"exact"},{"name":"ALG6-CDG","type":"related"},{"name":"ALG6-CDG (CDG-Ic)","type":"exact"},{"name":"ALG6-CDG1C","type":"exact"},{"name":"ALG6-congenital disorder of glycosylation 1C","type":"exact"},{"name":"CDG 1C","type":"related"},{"name":"CDG Ic","type":"related"},{"name":"CDG syndrome type Ic","type":"exact"},{"name":"CDG-Ic","type":"exact"},{"name":"CDG1C","type":"exact"},{"name":"CDGIc","type":"exact"},{"name":"CDGS5 (formerly)","type":"related"},{"name":"carbohydrate deficient glycoprotein syndrome type Ic","type":"exact"},{"name":"carbohydrate-deficient glycoprotein syndrome type 1C","type":"related"},{"name":"carbohydrate-deficient glycoprotein syndrome, type 1 with deficient glycosylation of dolichol-linked oligosaccharide (formerly)","type":"related"},{"name":"carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide","type":"related"},{"name":"carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide, formerly","type":"related"},{"name":"carbohydrate-deficient glycoprotein syndrome, type V","type":"related"},{"name":"carbohydrate-deficient glycoprotein syndrome, type V (formerly)","type":"related"},{"name":"carbohydrate-deficient glycoprotein syndrome, type V, formerly","type":"related"},{"name":"congenital disorder of glycosylation caused by mutation in ALG6","type":"exact"},{"name":"congenital disorder of glycosylation type 1C","type":"exact"},{"name":"congenital disorder of glycosylation type Ic","type":"exact"},{"name":"congenital disorder of glycosylation, type Ic","type":"related"},{"name":"glucosyltransferase 1 deficiency","type":"exact"}],"termid":"MONDO:0011291","terms_by_termid":{"MONDO:0011291":null},"xrefs":{"Monarch":{"xref_id":"0011291"}}}


id: MONDO:1010438
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Cardiomyopathy that occurs in salmonids.","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":"cardiomyopathy, salmonids","secondary_identifiers":["OMIA:000160-8015"],"termid":"MONDO:1010438","xrefs":{"Monarch":{"xref_id":"1010438"}}}


id: GO:1904743
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. Any process that stops, prevents or reduces the frequency, rate or extent of telomeric DNA binding.","definition_xrefs":["GOC:nc","PMID:24415760","GOC:BHF","GO_REF:0000059","GOC:TermGenie","GOC:BHF_telomere"],"gene_count":0,"genotype_count":0,"name":"obsolete negative regulation of telomeric DNA binding (obsolete GO:1904743)","synonyms":[{"name":"down regulation of telomere binding","type":"exact"},{"name":"down regulation of telomeric DNA binding","type":"exact"},{"name":"down regulation of telomeric repeat binding","type":"exact"},{"name":"down-regulation of telomere binding","type":"exact"},{"name":"down-regulation of telomeric DNA binding","type":"exact"},{"name":"down-regulation of telomeric repeat binding","type":"exact"},{"name":"downregulation of telomere binding","type":"exact"},{"name":"downregulation of telomeric DNA binding","type":"exact"},{"name":"downregulation of telomeric repeat binding","type":"exact"},{"name":"inhibition of telomere binding","type":"narrow"},{"name":"inhibition of telomeric DNA binding","type":"narrow"},{"name":"inhibition of telomeric repeat binding","type":"narrow"},{"name":"negative regulation of telomere binding","type":"exact"},{"name":"negative regulation of telomeric repeat binding","type":"exact"}],"termid":"GO:1904743"}


id: GO:1900308
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that activates or increases the frequency, rate or extent of maltoheptaose transport.","definition_xrefs":["GOC:mengo_curators","GOC:TermGenie"],"direct_ancestors":[{"relation_name":"is_a","term_name":"positive regulation of heptasaccharide transport","termid":"GO:1900296"},{"relation_name":"is_a","term_name":"regulation of maltoheptaose transport","termid":"GO:1900306"},{"relation_name":"positively_regulates","term_name":"maltoheptaose transport","termid":"GO:2001105"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"regulates","termid":"GO:0006810"},{"rel_name":"positively_regulates","termid":"GO:0006810"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0006810","GO:0008150"],"is_obsolete":false,"name":"positive regulation of maltoheptaose transport","synonyms":[{"name":"activation of maltoheptaose transport","type":"narrow"},{"name":"up regulation of maltoheptaose transport","type":"exact"},{"name":"up-regulation of maltoheptaose transport","type":"exact"},{"name":"upregulation of maltoheptaose transport","type":"exact"}],"termid":"GO:1900308"}


id: SO:0001403
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"A post translationally modified valine amino acid feature.","definition_xrefs":["SO:ke"],"direct_ancestors":[{"relation_name":"is_a","term_name":"modified_amino_acid_feature","termid":"SO:0001385"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"modified_L_valine","secondary_identifiers":["MOD:00920"],"synonyms":[{"name":"ModVal","type":"exact"},{"name":"modified L valine","type":"exact"},{"name":"modified L-valine","type":"exact"}],"termid":"SO:0001403"}


id: GO:0010744
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that increases the rate, frequency or extent of macrophage derived foam cell differentiation. Macrophage derived foam cell differentiation is the process in which a macrophage acquires the specialized features of a foam cell. A foam cell is a type of cell containing lipids in small vacuoles and typically seen in atherosclerotic lesions, as well as other conditions.","definition_xrefs":["GOC:tb","GOC:dph","GOC:add"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of macrophage derived foam cell differentiation","termid":"GO:0010743"},{"relation_name":"is_a","term_name":"positive regulation of cell differentiation","termid":"GO:0045597"},{"relation_name":"positively_regulates","term_name":"macrophage derived foam cell differentiation","termid":"GO:0010742"}],"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 macrophage derived foam cell differentiation","termid":"GO:0010744"}


id: GO:0007156
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The attachment of a plasma membrane adhesion molecule in one cell to an identical molecule in an adjacent cell.","definition_xrefs":["ISBN:0198506732"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cell-cell adhesion via plasma-membrane adhesion molecules","termid":"GO:0098742"}],"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":"homophilic cell adhesion via plasma membrane adhesion molecules","termid":"GO:0007156"}


id: MONDO:0019372
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A solitary bone cyst is a benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported.","definition_xrefs":["Orphanet:83468"],"direct_ancestors":[{"relation_name":"is_a","term_name":"bone neoplasm","termid":"MONDO:0019060"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"solitary bone cyst","secondary_identifiers":["ICD10CM:M85.4","GARD:19039","ICD9:733.21","UMLS:C0005937","MEDGEN:2696","icd11.foundation:987501456","NCIT:C2904","MESH:D001845","SCTID:203467005"],"synonyms":[{"name":"bone cyst","type":"exact"},{"name":"cyst of bone","type":"exact"},{"name":"cyst of the bone","type":"exact"},{"name":"simple bone cyst","type":"exact"},{"name":"solitary cyst","type":"exact"},{"name":"unicameral bone cyst","type":"exact"}],"termid":"MONDO:0019372","xrefs":{"Monarch":{"xref_id":"0019372"}}}


id: GO:0051190
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the breakdown of a prosthetic group, the non-amino acid portion of certain protein molecules. Prosthetic groups may be inorganic or organic and are usually required for the biological activity of the protein.","definition_xrefs":["GOC:ai"],"direct_ancestors":[{"relation_name":"is_a","term_name":"catabolic process","termid":"GO:0009056"},{"relation_name":"is_a","term_name":"prosthetic group metabolic process","termid":"GO:0051189"},{"relation_name":"part_of","term_name":"protein catabolic process","termid":"GO:0030163"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"part_of","termid":"GO:0030163"}],"interesting_parent_ids":["GO:0030163","GO:0008150"],"is_obsolete":false,"name":"prosthetic group catabolic process","synonyms":[{"name":"coenzyme and prosthetic group catabolic process","type":"broad"},{"name":"coenzyme and prosthetic group catabolism","type":"broad"},{"name":"prosthetic group breakdown","type":"exact"},{"name":"prosthetic group catabolism","type":"exact"},{"name":"prosthetic group degradation","type":"exact"}],"termid":"GO:0051190"}


id: MONDO:0000308
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A systemic mycosis that arises from infection in an immunologically normal host.","direct_ancestors":[{"relation_name":"is_a","term_name":"systemic mycosis","termid":"MONDO:0000256"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"primary systemic mycosis","secondary_identifiers":["DOID:0050292"],"termid":"MONDO:0000308","xrefs":{"Monarch":{"xref_id":"0000308"}}}


id: MONDO:0003279
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Ischemic necrosis of the testis usually caused by torsion of the spermatic cord, trauma, or severe epididymo-orchitis.","definition_xrefs":["NCIT:P378"],"direct_ancestors":[{"relation_name":"is_a","term_name":"testicular disorder","termid":"MONDO:0002329"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"testicular infarct","secondary_identifiers":["UMLS:C0392041","MEDGEN:95919","DOID:5104","NCIT:C27617","SCTID:33793000"],"synonyms":[{"name":"infarction of testis","type":"exact"},{"name":"testicular infarction","type":"exact"}],"termid":"MONDO:0003279","xrefs":{"Monarch":{"xref_id":"0003279"}}}


id: MOD:00294
data:
  {"annotation_feature_type":"gene","cv_name":"PSI-MOD","definition":"A protein modification that effectively converts two L-cysteine residues, an L-histidine residues, an L-serine residue and a four-iron four-sulfur cluster to bis-L-cysteinyl L-N3'-histidino L-serinyl tetrairon tetrasulfide.","definition_xrefs":["RESID:AA0289"],"direct_ancestors":[{"relation_name":"is_a","term_name":"iron-sulfur cluster containing modification","termid":"MOD:00739"},{"relation_name":"is_a","term_name":"metal or metal cluster coordinated L-cysteine residue","termid":"MOD:02067"},{"relation_name":"is_a","term_name":"metal or metal cluster coordinated L-histidine residue","termid":"MOD:02070"},{"relation_name":"is_a","term_name":"metal or metal cluster coordinated L-serine residue","termid":"MOD:02072"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MOD:00905"}],"interesting_parent_ids":["MOD:00905"],"is_obsolete":false,"name":"bis-L-cysteinyl L-N3'-histidino L-serinyl tetrairon tetrasulfide","synonyms":[{"name":"METAL Iron-sulfur (4Fe-4S)","type":"exact"},{"name":"METAL Iron-sulfur (4Fe-4S); via pros nitrogen","type":"exact"},{"name":"bis-L-cysteinyl L-N3'-histidino L-serinyl tetrairon tetrasulfide","type":"exact"},{"name":"tetra-mu3-sulfidobis(S-cysteinyliron)(N3'-histidinoiron)(O3-serinyliron)","type":"exact"}],"termid":"MOD:00294"}


id: _global:causally_influences
data:
  {"annotation_feature_type":"gene","cv_name":"external","definition":"The entity or characteristic A is causally upstream of the entity or characteristic B, A having an effect on B. An entity corresponds to any biological type of entity as long as a mass is measurable. A characteristic corresponds to a particular specificity of an entity (e.g., phenotype, shape, size).","direct_ancestors":[{"relation_name":"is_a","term_name":"causal_relation_between_entities","termid":"_global:causal_relation_between_entities"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"causally_influences","secondary_identifiers":["RO:0002566"],"termid":"_global:causally_influences"}


id: MONDO:0012602
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RDX gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"hearing loss, autosomal recessive","termid":"MONDO:0019588"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0006025"},{"rel_name":"is_a","termid":"MONDO:0019497"}],"interesting_parent_ids":["MONDO:0006025","MONDO:0019497"],"is_obsolete":false,"name":"autosomal recessive nonsyndromic hearing loss 24","secondary_identifiers":["GARD:22626","MEDGEN:370208","MESH:C567027","UMLS:C1970239","OMIM:611022","DOID:0110482"],"synonyms":[{"name":"DFNB24","type":"narrow"},{"name":"RDX autosomal recessive nonsyndromic deafness","type":"narrow"},{"name":"autosomal recessive deafness 24","type":"narrow"},{"name":"autosomal recessive nonsyndromic deafness 24","type":"narrow"},{"name":"autosomal recessive nonsyndromic deafness caused by mutation in RDX","type":"narrow"},{"name":"autosomal recessive nonsyndromic deafness type 24","type":"narrow"},{"name":"autosomal recessive nonsyndromic hearing loss 24","type":"exact"},{"name":"deafness, autosomal recessive 24","type":"narrow"},{"name":"deafness, autosomal recessive type 24","type":"narrow"}],"termid":"MONDO:0012602","xrefs":{"Monarch":{"xref_id":"0012602"}}}


id: PBO:0089408
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"cation dependent mannose-6-phosphate cargo receptor Mrl1","termid":"PBO:0089408"}


id: PR:Q9P7C7
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"An ATP-dependent RNA helicase DDX46 that is encoded in the genome of Schizosaccharomyces pombe 972h-.","definition_xrefs":["OMA:SCHPO04347","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":"pre-mRNA-processing ATP-dependent RNA helicase prp11 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPCC10H11.01","secondary_identifiers":["UniProtKB:Q9P7C7"],"synonyms":[{"name":"Spom972h-DDX46","type":"exact"}],"termid":"PR:Q9P7C7"}


id: PBO:0081985
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"zinc finger and SCAN domain containing 12","termid":"PBO:0081985"}


id: PBO:0068388
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ring finger protein 207","termid":"PBO:0068388"}


id: PBO:0017649
data:
  {"annotation_feature_type":"gene","cv_name":"disease_associated","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"congenital disorders of glygosylation","termid":"PBO:0017649"}


id: PBO:0041233
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"chromosome 1 open reading frame 56","termid":"PBO:0041233"}


id: MONDO:0017490
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"tibial hemimelia","termid":"MONDO:0010144"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005497"}],"interesting_parent_ids":["MONDO:0005497"],"is_obsolete":false,"name":"tibial hemimelia, unilateral","secondary_identifiers":["icd11.foundation:863808263","Orphanet:295077"],"synonyms":[{"name":"tibial longitudinal meromelia, unilateral","type":"exact"}],"termid":"MONDO:0017490","xrefs":{"Monarch":{"xref_id":"0017490"}}}


id: PBO:0030479
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-normal_cellular_cysteine_level","termid":"PBO:0030479"}


id: PBO:0078159
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"T cell receptor alpha variable 37 (pseudogene)","termid":"PBO:0078159"}


id: MOD:00850
data:
  {"annotation_feature_type":"gene","cv_name":"PSI-MOD","definition":"A protein modification that inserts or replaces a residue with an unnatural residue that is not considered to be derived from a natural residue by some chemical process.","definition_xrefs":["PubMed:18688235"],"direct_ancestors":[{"relation_name":"is_a","term_name":"protein modification categorized by amino acid modified","termid":"MOD:01157"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"unnatural residue","termid":"MOD:00850"}


id: PBO:0043379
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"clustered mitochondria homolog pseudogene 9","termid":"PBO:0043379"}


id: MONDO:0012414
data:
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id: GO:0031244
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id: PBO:0053199
data:
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id: PBO:0047225
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  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"family with sequence similarity 228 member A","termid":"PBO:0047225"}


id: MONDO:0001238
data:
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id: GO:0005789
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id: GO:0051385
data:
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id: GO:0062212
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id: MONDO:0013853
data:
  {"annotated_genes":["SJAG_04321"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[86671],"is_not":false,"summary":null,"term":"MONDO:0013853"}]},"cv_name":"mondo","definition":"Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"pontocerebellar hypoplasia type 1","termid":"MONDO:0016396"}],"gene_count":1,"genes_by_uniquename":{"SJAG_04321":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0020022"},{"rel_name":"is_a","termid":"MONDO:0006025"},{"rel_name":"is_a","termid":"MONDO:0037792"},{"rel_name":"is_a","termid":"MONDO:0005559"},{"rel_name":"is_a","termid":"MONDO:0005066"}],"interesting_parent_ids":["MONDO:0005066","MONDO:0006025","MONDO:0005559","MONDO:0020022","MONDO:0037792"],"is_obsolete":false,"name":"pontocerebellar hypoplasia type 1B","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["OMIM:614678","UMLS:C3553449","DOID:0060266","GARD:15834","MEDGEN:766363"],"synonyms":[{"name":"EXOSC3 non-syndromic pontocerebellar hypoplasia","type":"exact"},{"name":"PCH1B","type":"related"},{"name":"non-syndromic pontocerebellar hypoplasia caused by mutation in EXOSC3","type":"exact"},{"name":"pontocerebellar hypoplasia type 1B","type":"exact"},{"name":"pontocerebellar hypoplasia, type 1B","type":"related"}],"termid":"MONDO:0013853","terms_by_termid":{"MONDO:0013853":null},"xrefs":{"Monarch":{"xref_id":"0013853"}}}


id: GO:0030771
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: N-benzoyl-4-hydroxyanthranilate + S-adenosyl-L-methionine(1+) = N-benzoyl-4-methoxyanthranilate + S-adenosyl-L-homocysteine + H+.","definition_xrefs":["RHEA:17405","EC:2.1.1.105"],"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:0003824"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0016741"},{"rel_name":"is_a","termid":"GO:0016740"}],"interesting_parent_ids":["GO:0003824","GO:0003674","GO:0016741","GO:0016740"],"is_obsolete":false,"name":"N-benzoyl-4-hydroxyanthranilate 4-O-methyltransferase activity","secondary_identifiers":["KEGG_REACTION:R04421","MetaCyc:2.1.1.105-RXN"],"synonyms":[{"name":"N-benzoyl-4-hydroxyanthranilate 4-methyltransferase activity","type":"related"},{"name":"S-adenosyl-L-methionine:N-benzoyl-4-O-hydroxyanthranilate 4-O-methyltransferase activity","type":"related"},{"name":"benzoyl-CoA:anthranilate N-benzoyltransferase","type":"broad"}],"termid":"GO:0030771"}


id: FYPO:0003091
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A molecular function phenotype in which occurrence of chromatin binding by a gene product (usually a protein) at a replication fork pausing site within the eukaryotic rDNA repeat spacer in a mutant is decreased. The affected gene product may be encoded by the mutated gene, or by a different gene, and may normally bind DNA, protein, or both in chromatin.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"decreased chromatin binding","termid":"FYPO:0002577"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000652"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0000702"},{"rel_name":"is_a","termid":"FYPO:0000707"}],"interesting_parent_ids":["FYPO:0000652","FYPO:0001985","FYPO:0000707","FYPO:0000702"],"is_obsolete":false,"name":"decreased chromatin binding at rDNA replication fork barrier","synonyms":[{"name":"decreased chromatin binding at ribosomal DNA replication fork barrier","type":"exact"},{"name":"reduced chromatin binding at rDNA replication fork barrier","type":"exact"}],"termid":"FYPO:0003091"}


id: MONDO:0000230
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"An infectious disease caused by infection with rickettsia conorii subsp. israelensis.","definition_xrefs":["PMID:18760001"],"direct_ancestors":[{"relation_name":"is_a","term_name":"Rickettsia conorii infectious disease","termid":"MONDO:0005677"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Israeli tick typhus","secondary_identifiers":["DOID:0050043"],"synonyms":[{"name":"Israeli spotted fever","type":"related"}],"termid":"MONDO:0000230","xrefs":{"Monarch":{"xref_id":"0000230"}}}


id: FYPO:0002792
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 a cell contains more, but smaller, vacuoles than normal during a cellular response to a hypotonic environment.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"has_part","term_name":"lipid droplets present in spore cytoplasm in decreased numbers, mislocalized to ascus epiplasm","termid":"FYPO:0006053"},{"relation_name":"is_a","term_name":"small vacuoles present in increased numbers","termid":"FYPO:0002258"},{"relation_name":"output_of","term_name":"abnormal vacuole fusion during cellular hypotonic response","termid":"FYPO:0004483"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"output_of","termid":"FYPO:0001985"},{"rel_name":"has_part","termid":"FYPO:0001985"},{"rel_name":"output_of","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"output_of","termid":"FYPO:0005447"}],"interesting_parent_ids":["FYPO:0005447","FYPO:0000002","FYPO:0001985","FYPO:0001320"],"is_obsolete":false,"name":"small vacuoles present in increased numbers during cellular hypotonic response","synonyms":[{"name":"fragmented vacuoles during cellular hypotonic response","type":"related"},{"name":"small vacuoles present in greater numbers during cellular hypotonic response","type":"exact"},{"name":"small vacuoles present in increased numbers during cellular hypotonic response during mitotic cell cycle","type":"related"},{"name":"small vacuoles present in increased numbers during cellular hypotonic response during vegetative growth","type":"exact"},{"name":"small vacuoles present in increased numbers during hypotonic stress","type":"exact"},{"name":"vacuoles present in increased numbers, with decreased vacuole size, during cellular hypotonic response","type":"exact"}],"termid":"FYPO:0002792"}


id: PATO:0000176
data:
  {"annotation_feature_type":"gene","cv_name":"quality","gene_count":0,"genotype_count":0,"name":"OBSOLETE PATO:0000176 metabolic function (obsolete PATO:0000176)","termid":"PATO:0000176"}


id: PBO:0066385
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"REC114 meiotic recombination protein","termid":"PBO:0066385"}


id: PR:O14224
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A rho GDP-dissociation inhibitor 3 that is encoded in the genome of Schizosaccharomyces pombe 972h-.","definition_xrefs":["OMA:SCHPO00535","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":"rho GDP-dissociation inhibitor (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAC6F12.06","secondary_identifiers":["UniProtKB:O14224"],"synonyms":[{"name":"Spom972h-ARHGDIG","type":"exact"},{"name":"rho GDI (Schizosaccharomyces pombe 972h-)","type":"exact"}],"termid":"PR:O14224"}


id: MONDO:0005504
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A Gram-positive bacterial infection caused by Corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects.","definition_xrefs":["NCIT:P378"],"direct_ancestors":[{"relation_name":"is_a","term_name":"primary bacterial infectious disease","termid":"MONDO:0000314"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"diphtheria","secondary_identifiers":["icd11.foundation:508032285","MEDGEN:4334","GARD:1875","UMLS:C0012546","MedDRA:10013023","MESH:D004165","ICD10CM:A36.3","Orphanet:1679","ICD9:032","SCTID:397428000","ICD9:032.9","NCIT:C34541","DOID:11405","ICD10CM:A36","EFO:0005549"],"synonyms":[{"name":"Corynebacterium infection","type":"exact"}],"termid":"MONDO:0005504","xrefs":{"Monarch":{"xref_id":"0005504"}}}


id: FYPO:0002279
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A phenotype in which a spore germinates to produce an elongated germ tube that is curved along the long axis, and undergoes a single round of cell division.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"inviable after spore germination, single cell division, with elongated germ tube","termid":"FYPO:0002409"},{"relation_name":"is_a","term_name":"inviable curved elongated vegetative cell","termid":"FYPO:0002411"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000004"},{"rel_name":"has_part","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"has_part","termid":"FYPO:0000005"},{"rel_name":"is_a","termid":"FYPO:0000005"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"has_part","termid":"FYPO:0000004"},{"rel_name":"has_part","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0000002"}],"interesting_parent_ids":["FYPO:0000002","FYPO:0000004","FYPO:0001320","FYPO:0001985","FYPO:0000005"],"is_obsolete":false,"name":"inviable after spore germination, single cell division, with elongated, curved germ tube","synonyms":[{"name":"inviable after spore germination, single cell division, elongated, curved cell","type":"exact"},{"name":"inviable following spore germination, single cell division, with elongated, curved germ tube","type":"exact"},{"name":"inviable germinated spore, single cell division, with elongated, curved germ tube","type":"exact"},{"name":"lethal after spore germination, single cell division, with elongated, curved germ tube","type":"exact"}],"termid":"FYPO:0002279"}


id: PBO:0087593
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Subunit of the ASTRA complex, involved in chromatin remodeling; telomere length regulator involved in the stability or biogenesis of PIKKs such as TORC1","termid":"PBO:0087593"}


id: PBO:0079072
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"tRNA-Trp (anticodon CCA) 6-1","termid":"PBO:0079072"}


id: PBO:0082180
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"AGC family protein kinase; functional ortholog of mammalian S6 kinase; phosphorylated by Tor1p and required for TORC1-mediated regulation of ribosome biogenesis, translation initiation, and entry into G0 phase; involved in transactivation of osmostress-responsive genes; regulates G1 progression, cAPK activity and nitrogen activation of the FGM pathway; integrates nutrient signals and stress signals from sphingolipids to regulate lifespan","termid":"PBO:0082180"}


id: MONDO:0016351
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Anti-HLA hyperimmunization is an increase in anti-HLA antigens mostly seen in chronic renal failure (CRF) patients that have undergone hemodialysis and polytransfusion.","definition_xrefs":["Orphanet:2194"],"direct_ancestors":[{"relation_name":"is_a","term_name":"immune system disorder","termid":"MONDO:0005046"}],"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":"anti-HLA hyperimmunization","secondary_identifiers":["UMLS:C4304034","GARD:730","MEDGEN:929703"],"termid":"MONDO:0016351","xrefs":{"Monarch":{"xref_id":"0016351"}}}


id: PBO:0112000
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"alpha-1,2-mannosyltransferase Omh5","termid":"PBO:0112000"}


id: PBO:0050261
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"high mobility group nucleosomal binding domain 2 pseudogene 39","termid":"PBO:0050261"}


id: GO:0046858
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"A large enclosure of aggregated pigment, typically bacteriochlorophyll c (BChl c), that acts as a light-harvesting antenna structure and is characteristic of green photosynthetic bacteria (e.g. Chlorobiaceae). The BChl aggregates are organized into lamellar elements by pigment-pigment rather than pigment-protein interactions. Chlorosomes also contain BChl a, carotenoids, quinones, lipids, and proteins, and are attached to the cytoplasmic membrane via a BChl a-containing protein baseplate.","definition_xrefs":["PMID:15298919","ISBN:0198506732","PMID:14729689"],"direct_ancestors":[{"relation_name":"is_a","term_name":"intracellular membraneless organelle","termid":"GO:0043232"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005575"}],"interesting_parent_ids":["GO:0005575"],"is_obsolete":false,"name":"chlorosome","secondary_identifiers":["Wikipedia:Chlorosome"],"termid":"GO:0046858"}


id: PBO:0027052
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-long_astral_microtubules_during_mitotic_anaphase_A","termid":"PBO:0027052"}


id: GO:0010873
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. Any process that increases the frequency, rate or extent of cholesterol esterification. Cholesterol esterification is the lipid modification process in which a sterol ester is formed by the combination of a carboxylic acid (often a fatty acid) and cholesterol. In the blood this process is associated with the conversion of free cholesterol into cholesteryl ester, which is then sequestered into the core of a lipoprotein particle.","definition_xrefs":["GOC:dph","GOC:tb","GOC:BHF"],"gene_count":0,"genotype_count":0,"name":"obsolete positive regulation of cholesterol esterification (obsolete GO:0010873)","termid":"GO:0010873"}


id: FYPO:0001877
data:
  {"alleles_by_uniquename":{"SJAG_03048:allele-1":{"allele_type":"amino_acid_mutation","description":"G146D","gene_uniquename":"SJAG_03048","name":"cdc2-1w","uniquename":"SJAG_03048:allele-1"},"SJAG_03581:allele-1":{"allele_type":"deletion","description":"deletion","gene_uniquename":"SJAG_03581","name":"gef1delta","uniquename":"SJAG_03581:allele-1"},"SJAG_04280:allele-2":{"allele_type":"amino_acid_mutation","description":"T582G","gene_uniquename":"SJAG_04280","name":"wee1-as8","uniquename":"SJAG_04280:allele-2"}},"annotation_feature_type":"genotype","cv_annotations":{"single_locus_phenotype":[{"annotations":[119729,119730,119736],"is_not":false,"summary":null,"term":"FYPO:0001877"}]},"cv_name":"fission_yeast_phenotype","definition":"A cell morphology phenotype in which a vegetatively growing cell is viable but has an abnormally low thickness or diameter.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"has_part","term_name":"thin cell","termid":"FYPO:0001879"},{"relation_name":"is_a","term_name":"thin cell","termid":"FYPO:0001879"},{"relation_name":"is_a","term_name":"viable vegetative cell with abnormal cell shape","termid":"FYPO:0002197"}],"gene_count":3,"genes_by_uniquename":{"SJAG_03048":null,"SJAG_03581":null,"SJAG_04280":null},"genotype_count":3,"genotypes_by_uniquename":{"cdc2-1w-G146D-amino_acid_mutation-expression-not_assayed_or_wild_type":{"display_name":"cdc2-1w(G146D aa)","display_uniquename":"cdc2-1w-G146D-amino_acid_mutation-expression-not_assayed_or_wild_type","loci":[{"expressed_alleles":[{"allele_uniquename":"SJAG_03048:allele-1","expression":"Not assayed or wild type"}]}]},"gef1delta":{"display_name":"gef1delta","display_uniquename":"gef1delta","loci":[{"expressed_alleles":[{"allele_uniquename":"SJAG_03581:allele-1","expression":"Null"}]}]},"wee1-as8-T582G-amino_acid_mutation-expression-not_assayed_or_wild_type":{"display_name":"wee1-as8(T582G aa)","display_uniquename":"wee1-as8-T582G-amino_acid_mutation-expression-not_assayed_or_wild_type","loci":[{"expressed_alleles":[{"allele_uniquename":"SJAG_04280:allele-2","expression":"Not assayed or wild type"}]}]}},"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0000005"},{"rel_name":"has_part","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0000004"},{"rel_name":"has_part","termid":"FYPO:0001985"},{"rel_name":"has_part","termid":"FYPO:0000004"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"has_part","termid":"FYPO:0000005"},{"rel_name":"is_a","termid":"FYPO:0001985"}],"interesting_parent_ids":["FYPO:0000005","FYPO:0000002","FYPO:0000004","FYPO:0001985","FYPO:0001320"],"is_obsolete":false,"name":"viable thin vegetative cell","references_by_uniquename":{"PMID:30664646":null},"single_locus_annotated_genes":["SJAG_03048","SJAG_04280","SJAG_03581"],"single_locus_genotype_uniquenames":["cdc2-1w-G146D-amino_acid_mutation-expression-not_assayed_or_wild_type","gef1delta","wee1-as8-T582G-amino_acid_mutation-expression-not_assayed_or_wild_type"],"synonyms":[{"name":"thin viable vegetative cell","type":"exact"},{"name":"viable thin cell during vegetative growth","type":"exact"},{"name":"viable thin vegetative cell during mitotic cell cycle","type":"related"},{"name":"viable vegetative cell with decreased cell diameter","type":"exact"},{"name":"viable vegetative cell with decreased cell thickness","type":"exact"},{"name":"viable vegetative cell with decreased cell width","type":"exact"}],"termid":"FYPO:0001877","terms_by_termid":{"FYECO:0000004":null,"FYECO:0000005":null,"FYECO:0000006":null,"FYECO:0000137":null,"FYECO:0000338":null,"FYPO:0001877":null,"FYPO_EXT:0000001":null,"FYPO_EXT:0000002":null}}


id: MONDO:0012071
data:
  {"annotated_genes":["SJAG_01957"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[85962],"is_not":false,"summary":null,"term":"MONDO:0012071"}]},"cv_name":"mondo","definition":"Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"congenital generalized lipodystrophy","termid":"MONDO:0006536"},{"relation_name":"is_a","term_name":"Berardinelli-Seip congenital lipodystrophy","termid":"MONDO:0018883"}],"gene_count":1,"genes_by_uniquename":{"SJAG_01957":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":"congenital generalized lipodystrophy type 1","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["MEDGEN:318592","DOID:0111135","GARD:84","OMIM:608594","UMLS:C1720862"],"synonyms":[{"name":"AGPAT2 congenital generalised lipodystrophy (disease)","type":"exact"},{"name":"AGPAT2 congenital generalized lipodystrophy (disease)","type":"exact"},{"name":"AGPAT2-related Brunzell syndrome","type":"related"},{"name":"BSCL1","type":"exact"},{"name":"Berardinelli-Seip congenital lipodystrophy type 1","type":"related"},{"name":"Berardinelli-Seip congenital lipodystrophy, type 1","type":"exact"},{"name":"Brunzell syndrome AGPAT2-related","type":"exact"},{"name":"Brunzell syndrome, AGPAT2-related","type":"related"},{"name":"CGL1","type":"exact"},{"name":"congenital generalised lipodystrophy (disease) caused by mutation in AGPAT2","type":"exact"},{"name":"congenital generalized lipodystrophy (disease) caused by mutation in AGPAT2","type":"exact"},{"name":"congenital generalized lipodystrophy type 1","type":"exact"},{"name":"lipodystrophy, Berardinelli-Seip congenital, type 1","type":"related"},{"name":"lipodystrophy, congenital generalized, type 1","type":"related"}],"termid":"MONDO:0012071","terms_by_termid":{"MONDO:0012071":null},"xrefs":{"Monarch":{"xref_id":"0012071"}}}


id: PBO:0079477
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"TWSG1 divergent transcript","termid":"PBO:0079477"}


id: PBO:0041353
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"C4A antisense RNA 1","termid":"PBO:0041353"}


id: MONDO:0007623
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":"flushing of ears and somnolence","secondary_identifiers":["MEDGEN:340685","UMLS:C1851055","OMIM:136200"],"synonyms":[{"name":"flushing of ears and somnolence","type":"exact"}],"termid":"MONDO:0007623","xrefs":{"Monarch":{"xref_id":"0007623"}}}


id: MONDO:0016135
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete rare hereditary neurologic disease with peripheral neuropathy (obsolete MONDO:0016135)","secondary_identifiers":["Orphanet:207025"],"termid":"MONDO:0016135","xrefs":{"Monarch":{"xref_id":"0016135"}}}


id: GO:1905020
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. Any process that activates or increases the frequency, rate or extent of methionine-tRNA ligase activity.","definition_xrefs":["PMID:1665486","GO_REF:0000059","GOC:TermGenie"],"gene_count":0,"genotype_count":0,"name":"obsolete positive regulation of methionine-tRNA ligase activity (obsolete GO:1905020)","synonyms":[{"name":"activation of L-methionine:tRNAMet ligase (AMP-forming)","type":"narrow"},{"name":"activation of MetRS activity","type":"narrow"},{"name":"activation of methionine translase activity","type":"narrow"},{"name":"activation of methionine-tRNA ligase activity","type":"narrow"},{"name":"activation of methionyl-tRNA synthetase activity","type":"narrow"},{"name":"activation of methionyl-transfer RNA synthetase activity","type":"narrow"},{"name":"activation of methionyl-transfer ribonucleate synthetase activity","type":"narrow"},{"name":"activation of methionyl-transfer ribonucleic acid synthetase activity","type":"narrow"},{"name":"positive regulation of L-methionine:tRNAMet ligase (AMP-forming)","type":"exact"},{"name":"positive regulation of MetRS activity","type":"exact"},{"name":"positive regulation of methionine translase activity","type":"exact"},{"name":"positive regulation of methionyl-tRNA synthetase activity","type":"exact"},{"name":"positive regulation of methionyl-transfer RNA synthetase activity","type":"exact"},{"name":"positive regulation of methionyl-transfer ribonucleate synthetase activity","type":"exact"},{"name":"positive regulation of methionyl-transfer ribonucleic acid synthetase activity","type":"exact"},{"name":"up regulation of L-methionine:tRNAMet ligase (AMP-forming)","type":"exact"},{"name":"up regulation of MetRS activity","type":"exact"},{"name":"up regulation of methionine translase activity","type":"exact"},{"name":"up regulation of methionine-tRNA ligase activity","type":"exact"},{"name":"up regulation of methionyl-tRNA synthetase activity","type":"exact"},{"name":"up regulation of methionyl-transfer RNA synthetase activity","type":"exact"},{"name":"up regulation of methionyl-transfer ribonucleate synthetase activity","type":"exact"},{"name":"up regulation of methionyl-transfer ribonucleic acid synthetase activity","type":"exact"},{"name":"up-regulation of L-methionine:tRNAMet ligase (AMP-forming)","type":"exact"},{"name":"up-regulation of MetRS activity","type":"exact"},{"name":"up-regulation of methionine translase activity","type":"exact"},{"name":"up-regulation of methionine-tRNA ligase activity","type":"exact"},{"name":"up-regulation of methionyl-tRNA synthetase activity","type":"exact"},{"name":"up-regulation of methionyl-transfer RNA synthetase activity","type":"exact"},{"name":"up-regulation of methionyl-transfer ribonucleate synthetase activity","type":"exact"},{"name":"up-regulation of methionyl-transfer ribonucleic acid synthetase activity","type":"exact"},{"name":"upregulation of L-methionine:tRNAMet ligase (AMP-forming)","type":"exact"},{"name":"upregulation of MetRS activity","type":"exact"},{"name":"upregulation of methionine translase activity","type":"exact"},{"name":"upregulation of methionine-tRNA ligase activity","type":"exact"},{"name":"upregulation of methionyl-tRNA synthetase activity","type":"exact"},{"name":"upregulation of methionyl-transfer RNA synthetase activity","type":"exact"},{"name":"upregulation of methionyl-transfer ribonucleate synthetase activity","type":"exact"},{"name":"upregulation of methionyl-transfer ribonucleic acid synthetase activity","type":"exact"}],"termid":"GO:1905020"}


id: SO:0001817
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"An attribute describing a sequence that contains a mutation involving the deletion or insertion of one or more bases, where this number is divisible by 3.","definition_xrefs":["SO:ke"],"direct_ancestors":[{"relation_name":"is_a","term_name":"mRNA_attribute","termid":"SO:0000863"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"inframe","termid":"SO:0001817"}


id: PBO:0084222
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Hsp70 family ATPase; constituent of the import motor component of the Translocase of the Inner Mitochondrial membrane (TIM23 complex); involved in protein translocation and folding; subunit of SceI endonuclease; SSC1 has a paralog, ECM10, that arose from the whole genome duplication","termid":"PBO:0084222"}


id: FYPO:0007205
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 replication fork arrest at sites within the eukaryotic rDNA repeat spacer is normal (i.e. indistinguishable from wild type).","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation phenotype during vegetative growth","termid":"FYPO:0001334"},{"relation_name":"is_a","term_name":"DNA metabolism phenotype during vegetative growth","termid":"FYPO:0001346"},{"relation_name":"is_a","term_name":"normal cellular component organization","termid":"FYPO:0006003"},{"relation_name":"is_a","term_name":"normal replication fork arrest","termid":"FYPO:0008191"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0000293"},{"rel_name":"is_a","termid":"FYPO:0001312"},{"rel_name":"is_a","termid":"FYPO:0000257"}],"interesting_parent_ids":["FYPO:0001320","FYPO:0001312","FYPO:0000002","FYPO:0000293","FYPO:0000257"],"is_obsolete":false,"name":"normal replication fork arrest at rDNA repeats","synonyms":[{"name":"normal replication fork arrest at rDNA repeats during mitotic cell cycle","type":"related"},{"name":"normal replication fork arrest at rDNA repeats during vegetative growth","type":"exact"},{"name":"normal replication fork arrest at ribosomal DNA repeats","type":"exact"}],"termid":"FYPO:0007205"}


id: GO:0051958
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The directed movement of methotrexate, 4-amino-10-methylformic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Methotrexate is a folic acid analogue and a potent competitive inhibitor of dihydrofolate reductase.","definition_xrefs":["GOC:ai"],"direct_ancestors":[{"relation_name":"is_a","term_name":"dicarboxylic acid transport","termid":"GO:0006835"},{"relation_name":"is_a","term_name":"amide transport","termid":"GO:0042886"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0051179"},{"rel_name":"is_a","termid":"GO:0006810"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150","GO:0051179","GO:0006810"],"is_obsolete":false,"name":"methotrexate transport","termid":"GO:0051958"}


id: PBO:0069572
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U6 small nuclear 844, pseudogene","termid":"PBO:0069572"}


id: MONDO:0009255
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.","definition_xrefs":["Orphanet:79237"],"direct_ancestors":[{"relation_name":"is_a","term_name":"galactosemia","termid":"MONDO:0018116"},{"relation_name":"is_a","term_name":"disorder of galactose and fructose metabolism","termid":"MONDO:0800152"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005066"},{"rel_name":"is_a","termid":"MONDO:0005328"},{"rel_name":"is_a","termid":"MONDO:0037792"}],"interesting_parent_ids":["MONDO:0037792","MONDO:0005066","MONDO:0005328"],"is_obsolete":false,"name":"galactokinase deficiency","secondary_identifiers":["GARD:2422","MEDGEN:120614","DOID:14695","NANDO:2200533","SCTID:124302001","NCIT:C114767","OMIM:230200","icd11.foundation:1173858031","UMLS:C0268155"],"synonyms":[{"name":"GALK deficiency","type":"exact"},{"name":"GALK-D","type":"exact"},{"name":"Galk deficiency","type":"related"},{"name":"galactokinase deficiency","type":"exact"},{"name":"galactokinase deficiency galactosemia","type":"exact"},{"name":"galactokinase deficiency with cataracts","type":"exact"},{"name":"galactosemia 2","type":"related"},{"name":"galactosemia II","type":"exact"},{"name":"galactosemia type 2","type":"exact"},{"name":"hereditary galactokinase deficiency","type":"related"}],"termid":"MONDO:0009255","xrefs":{"Monarch":{"xref_id":"0009255"}}}


id: MONDO:0044704
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A squamous cell carcinoma that involves the oropharynx.","definition_xrefs":["MONDO:patterns/location"],"direct_ancestors":[{"relation_name":"is_a","term_name":"pharyngeal squamous cell carcinoma","termid":"MONDO:0000536"},{"relation_name":"is_a","term_name":"oropharyngeal carcinoma","termid":"MONDO:0044926"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0004992"},{"rel_name":"is_a","termid":"MONDO:0004335"}],"interesting_parent_ids":["MONDO:0004992","MONDO:0004335"],"is_obsolete":false,"name":"oropharynx squamous cell carcinoma","secondary_identifiers":["GARD:17928","UMLS:C0280313","icd11.foundation:839740136","NCIT:C8181","ONCOTREE:OPHSC","MEDGEN:76094","Orphanet:500478"],"synonyms":[{"name":"epidermoid carcinoma of oropharynx","type":"exact"},{"name":"epidermoid carcinoma of the oropharynx","type":"exact"},{"name":"oropharyngeal epidermoid carcinoma","type":"exact"},{"name":"oropharyngeal squamous cell carcinoma","type":"exact"},{"name":"oropharyngeal throat squamous cell cancer","type":"exact"},{"name":"squamous cell carcinoma of oropharynx","type":"exact"},{"name":"squamous cell carcinoma of the oropharynx","type":"related"}],"termid":"MONDO:0044704","xrefs":{"Monarch":{"xref_id":"0044704"}}}


id: PBO:0076930
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"transcription factor binding to IGHM enhancer 3","termid":"PBO:0076930"}


id: PBO:0069949
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U6 small nuclear 1242, pseudogene","termid":"PBO:0069949"}


id: MOD:01651
data:
  {"annotation_feature_type":"gene","cv_name":"PSI-MOD","definition":"A protein modification that effectively removes or replaces a natural, standard, encoded residue.","definition_xrefs":["PubMed:18688235"],"direct_ancestors":[{"relation_name":"is_a","term_name":"natural residue","termid":"MOD:00009"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"natural, standard, encoded residue removal","termid":"MOD:01651"}


id: PBO:0060722
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"NADH:ubiquinone oxidoreductase subunit A9 pseudogene 1","termid":"PBO:0060722"}


id: PBO:0043282
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"C-type lectin domain family 4 member F","termid":"PBO:0043282"}


id: FYPO:0007174
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 localization of a protein to the kinetochore of a chromosome is abnormal during interphase of the mitotic cell cycle.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal protein localization to kinetochore during vegetative growth","termid":"FYPO:0001268"}],"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:0005447","FYPO:0000138","FYPO:0001320"],"is_obsolete":false,"name":"abnormal protein localization to kinetochore during mitotic interphase","synonyms":[{"name":"abnormal protein localisation to kinetochore during interphase during vegetative growth","type":"exact"},{"name":"abnormal protein localization to kinetochore during interphase of mitotic cell cycle","type":"related"}],"termid":"FYPO:0007174"}


id: GO:0060132
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process whose specific outcome is the progression of a prolactin secreting cell over time, from its formation to the mature structure. A prolactin secreting cell is an acidophilic cell of the anterior pituitary that produces prolactin.","definition_xrefs":["GOC:dph"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cell development","termid":"GO:0048468"},{"relation_name":"part_of","term_name":"prolactin secreting cell differentiation","termid":"GO:0060127"}],"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":"prolactin secreting cell development","synonyms":[{"name":"epsilon-acidophil development","type":"exact"},{"name":"lactotrope development","type":"exact"},{"name":"lactotroph development","type":"exact"},{"name":"lactotropic cell development","type":"exact"},{"name":"mammotrope development","type":"exact"},{"name":"mammotroph development","type":"exact"},{"name":"mammotrophic cell development","type":"exact"},{"name":"mammotropic cell development","type":"exact"}],"termid":"GO:0060132"}


id: MONDO:0013404
data:
  {"annotated_genes":["SJAG_03556"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[87273],"is_not":false,"summary":null,"term":"MONDO:0013404"}]},"cv_name":"mondo","definition":"Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterized by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels.","definition_xrefs":["Orphanet:88618"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"syndromic intellectual disability","termid":"MONDO:0000508"},{"relation_name":"is_a","term_name":"disorder of methionine catabolism","termid":"MONDO:0000351"}],"gene_count":1,"genes_by_uniquename":{"SJAG_03556":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005066"},{"rel_name":"is_a","termid":"MONDO:0004736"}],"interesting_parent_ids":["MONDO:0004736","MONDO:0005066"],"is_obsolete":false,"name":"hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["OMIM:613752","DOID:0111039","GARD:13177","MEDGEN:462408","SCTID:724039002","UMLS:C3151058"],"synonyms":[{"name":"hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency","type":"exact"},{"name":"hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency","type":"related"},{"name":"hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase","type":"exact"},{"name":"psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency","type":"exact"}],"termid":"MONDO:0013404","terms_by_termid":{"MONDO:0013404":null},"xrefs":{"Monarch":{"xref_id":"0013404"}}}


id: MONDO:0002128
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A painful asymmetric asynchronous sensory and motor peripheral neuropathy involving isolated damage to at least 2 separate nerve areas; associated with (but not limited to) systemic disorders such as diabetes, vasculitis, amyloidosis, direct tumor involvement, polyarteritis nodosa, rheumatoid arthritis, systemic lupus erythematosus, and paraneoplastic syndromes. It also may be associated with Lyme disease, Wegener's granulomatosis, Sjogren syndrome, cryoglobulinemia, hypereosinophilia, temporal arteritis, scleroderma, sarcoidosis, leprosy, acute viral hepatitis A, and acquired immunodeficiency syndrome.","definition_xrefs":["NCIT:C70938"],"direct_ancestors":[{"relation_name":"is_a","term_name":"neuritis of upper limb","termid":"MONDO:0003607"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005244"}],"interesting_parent_ids":["MONDO:0005244"],"is_obsolete":false,"name":"mononeuritis multiplex","secondary_identifiers":["icd11.foundation:1838368265","SCTID:30292005","UMLS:C0151295","DOID:1835","GARD:7056","ICD10CM:G58.7","ICD9:354.5","MEDGEN:101790"],"synonyms":[{"name":"mononeuritis multiplex","type":"exact"}],"termid":"MONDO:0002128","xrefs":{"Monarch":{"xref_id":"0002128"}}}


id: GO:0045192
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. The chemical reactions and pathways resulting in the breakdown of low-density lipoproteins, also known as beta lipoproteins, one of the classes of lipoproteins found in the bloodstream of animals, acting as a carrier for cholesterol and fats.","definition_xrefs":["GOC:go_curators","ISBN:0198506732"],"gene_count":0,"genotype_count":0,"name":"obsolete low-density lipoprotein catabolic process (obsolete GO:0045192)","synonyms":[{"name":"LDL catabolic process","type":"exact"},{"name":"LDL catabolism","type":"exact"},{"name":"low-density lipoprotein breakdown","type":"exact"},{"name":"low-density lipoprotein catabolic process","type":"exact"},{"name":"low-density lipoprotein catabolism","type":"exact"},{"name":"low-density lipoprotein degradation","type":"exact"}],"termid":"GO:0045192"}


id: GO:1902127
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways involving (-)-lariciresinol.","definition_xrefs":["PMID:9872995","PMID:15949826","GOC:TermGenie"],"direct_ancestors":[{"relation_name":"is_a","term_name":"lignan metabolic process","termid":"GO:0009806"},{"relation_name":"is_a","term_name":"phenol-containing compound metabolic process","termid":"GO:0018958"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0019748"}],"interesting_parent_ids":["GO:0008150","GO:0019748"],"is_obsolete":false,"name":"(-)-lariciresinol metabolic process","synonyms":[{"name":"(-)-lariciresinol metabolism","type":"exact"}],"termid":"GO:1902127"}


id: PATO:0000940
data:
  {"annotation_feature_type":"gene","cv_name":"quality","gene_count":0,"genotype_count":0,"name":"obsolete irregular shape (obsolete PATO:0000940)","termid":"PATO:0000940"}


id: PBO:0028448
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-altered_substrate_specificity","termid":"PBO:0028448"}


id: MONDO:0011393
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Any ypoalphalipoproteinemia in which the cause of the disease is a mutation in the ABCA1 gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"hypoalphalipoproteinemia","termid":"MONDO:0017773"},{"relation_name":"is_a","term_name":"inborn errors of metabolism","termid":"MONDO:0019052"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005066"}],"interesting_parent_ids":["MONDO:0005066"],"is_obsolete":false,"name":"hypoalphalipoproteinemia, primary, 1","secondary_identifiers":["MEDGEN:1684828","UMLS:C5231558","OMIM:604091","DOID:0080957"],"synonyms":[{"name":"FHA","type":"related"},{"name":"FHD","type":"related"},{"name":"HDL cholesterol, Low serum","type":"related"},{"name":"HDL deficiency, familial, 1","type":"exact"},{"name":"HDLD","type":"related"},{"name":"familial HDL deficiency","type":"related"},{"name":"high density lipoprotein deficiency","type":"related"},{"name":"hypoalphalipoproteinemia, familial","type":"exact"},{"name":"hypoalphalipoproteinemia, primary","type":"related"}],"termid":"MONDO:0011393","xrefs":{"Monarch":{"xref_id":"0011393"}}}


id: MONDO:0008600
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A painful disability in the hand affecting the finger or thumb. It is caused by mechanical impingement of the digital flexor tendons as they pass through a narrowed retinacular pulley at the level of the metacarpal head. Thickening of the sheath and fibrocartilaginous metaplasia can occur, and nodules can form. (From Green's Operative Hand Surgery, 5th ed, p2137-58).","definition_xrefs":["MESH:D052582"],"direct_ancestors":[{"relation_name":"is_a","term_name":"hereditary disease","termid":"MONDO:0003847"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"trigger thumb","secondary_identifiers":["UMLS:C0410060","OMIM:190410","SCTID:42786005","MEDGEN:98044"],"synonyms":[{"name":"bilateral trigger thumb (type)","type":"related"},{"name":"congenital trigger thumb (type)","type":"related"},{"name":"recurrent trigger thumb (type)","type":"related"},{"name":"trigger thumb","type":"exact"}],"termid":"MONDO:0008600","xrefs":{"Monarch":{"xref_id":"0008600"}}}


id: PBO:0044610
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 13 pseudogene 1","termid":"PBO:0044610"}


id: PBO:0046276
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"EMG1 N1-specific pseudouridine methyltransferase","termid":"PBO:0046276"}


id: MONDO:0014053
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete stomatin-like protein-2, hyperphosphorylation of (obsolete MONDO:0014053)","secondary_identifiers":["OMIM:615121"],"synonyms":[{"name":"hyperphosphorylated Paratarg-7","type":"related"},{"name":"stomatin-like protein-2, hyperphosphorylation of","type":"exact"}],"termid":"MONDO:0014053","xrefs":{"Monarch":{"xref_id":"0014053"}}}


id: PR:G2TRL1
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- SPAC186.04c gene.","definition_xrefs":["PRO:DNx","UniProtKB:G2TRL1"],"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":"uncharacterized protein C186.04c (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAC186.04c","synonyms":[{"name":"Spom972h-SPAC186.04c","type":"exact"}],"termid":"PR:G2TRL1"}


id: FYECO:0000192
data:
  {"annotation_feature_type":"gene","cv_name":"fission_yeast_phenotype_condition","definition":"Biotin was completely excluded from the experimental medium/buffer.","definition_xrefs":["PomBase:al"],"direct_ancestors":[{"relation_name":"is_a","term_name":"grouping absent","termid":"FYECO:0000120"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"biotin absent","termid":"FYECO:0000192"}


id: GO:0071135
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"A protein complex that consists of an alpha7-beta1 integrin complex bound to focal adhesion kinase.","definition_xrefs":["PMID:17598176"],"direct_ancestors":[{"relation_name":"is_a","term_name":"plasma membrane protein complex","termid":"GO:0098797"}],"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:0005575","GO:0032991","GO:0005886"],"is_obsolete":false,"name":"alpha7-beta1 integrin-focal adhesion kinase complex","synonyms":[{"name":"ITGA7-ITGB1-PTK2 complex","type":"narrow"}],"termid":"GO:0071135"}


id: GO:0019485
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the breakdown of beta-alanine into other compounds, including L-alanine.","definition_xrefs":["GOC:go_curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"beta-alanine catabolic process","termid":"GO:0019484"},{"relation_name":"is_a","term_name":"L-alanine metabolic process","termid":"GO:0042851"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0006520"},{"rel_name":"is_a","termid":"GO:0044281"}],"interesting_parent_ids":["GO:0006520","GO:0044281","GO:0008150"],"is_obsolete":false,"name":"beta-alanine catabolic process to L-alanine","synonyms":[{"name":"beta-alanine breakdown to L-alanine","type":"exact"},{"name":"beta-alanine degradation to L-alanine","type":"exact"}],"termid":"GO:0019485"}


id: PBO:0087942
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Translation elongation factor eIF-5A; previously thought to function in translation initiation; undergoes an essential hypusination modification; expressed under anaerobic conditions; ANB1 has a paralog, HYP2, that arose from the whole genome duplication; human EIF5A complements the inviability of the yeast hyp2 anb1 double null mutant","termid":"PBO:0087942"}


id: GO:1905530
data:
  {"annotated_genes":["SJAG_03970"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[88442],"is_not":false,"summary":null,"term":"GO:1905530"}]},"cv_name":"biological_process","definition":"Any process that stops, prevents or reduces the frequency, rate or extent of uracil import across plasma membrane.","definition_xrefs":["GO_REF:0000058","GOC:TermGenie","PMID:26536126"],"direct_ancestors":[{"relation_name":"is_a","term_name":"negative regulation of transmembrane transport","termid":"GO:0034763"},{"relation_name":"is_a","term_name":"regulation of uracil import across plasma membrane","termid":"GO:1905529"},{"relation_name":"negatively_regulates","term_name":"uracil import across plasma membrane","termid":"GO:0098721"}],"gene_count":1,"genes_by_uniquename":{"SJAG_03970":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"negatively_regulates","termid":"GO:0055085"},{"rel_name":"regulates","termid":"GO:0055085"},{"rel_name":"regulates","termid":"GO:0006810"},{"rel_name":"negatively_regulates","termid":"GO:0006810"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0055085","GO:0006810","GO:0008150"],"is_obsolete":false,"name":"negative regulation of uracil import across plasma membrane","references_by_uniquename":{"GO_REF:0000107":null},"termid":"GO:1905530","terms_by_termid":{"GO:1905530":null}}


id: PR:P87127
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"An ATP synthase mitochondrial F1 complex assembly factor 1 that is encoded in the genome of Schizosaccharomyces pombe 972h-.","definition_xrefs":["PANTHER:PTHR13126:SF0","PRO:DNx","OMA:SCHPO00582"],"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 atp11, mitochondrial (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAC3A12.12","secondary_identifiers":["UniProtKB:P87127"],"synonyms":[{"name":"Spom972h-ATPAF1","type":"exact"}],"termid":"PR:P87127"}


id: MONDO:0100291
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"T acute lymphoblastic leukemia in which the blasts have unique immunophenotypic and genetic characteristics suggesting only limited early T-cell differentiation.","definition_xrefs":["NCIT:C130043"],"direct_ancestors":[{"relation_name":"is_a","term_name":"T-cell acute lymphoblastic leukemia","termid":"MONDO:0004963"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005570"},{"rel_name":"is_a","termid":"MONDO:0005046"}],"interesting_parent_ids":["MONDO:0005570","MONDO:0005046"],"is_obsolete":false,"name":"early T cell progenitor acute lymphoblastic leukemia","secondary_identifiers":["UMLS:C4329780","MEDGEN:1385175"],"synonyms":[{"name":"ETP ALL","type":"exact"},{"name":"ETP-ALL","type":"exact"},{"name":"early T acute lymphoblastic leukaemia","type":"exact"},{"name":"early T acute lymphoblastic leukemia","type":"exact"},{"name":"early T-cell precursor acute lymphoblastic leukaemia","type":"exact"},{"name":"early T-cell precursor acute lymphoblastic leukemia","type":"exact"},{"name":"early T-cell precursor lymphoblastic leukaemia","type":"exact"},{"name":"early T-cell precursor lymphoblastic leukemia","type":"exact"}],"termid":"MONDO:0100291","xrefs":{"Monarch":{"xref_id":"0100291"}}}


id: MONDO:0021078
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"papilloma","termid":"MONDO:0002363"},{"relation_name":"is_a","term_name":"glandular cell neoplasm","termid":"MONDO:0024276"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"glandular papilloma","secondary_identifiers":["MEDGEN:482986","NCIT:C6880","UMLS:C3282896"],"synonyms":[{"name":"glandular papilloma","type":"exact"}],"termid":"MONDO:0021078","xrefs":{"Monarch":{"xref_id":"0021078"}}}


id: PBO:0002480
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"alcohol dehydrogenase pseudogene","termid":"PBO:0002480"}


id: SO:0001197
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"An oligo composed of (S)-GNA residues.","definition_xrefs":["RSC:cb"],"direct_ancestors":[{"relation_name":"has_quality","term_name":"S_GNA","termid":"SO:0001196"},{"relation_name":"is_a","term_name":"GNA_oligo","termid":"SO:0001193"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"S_GNA_oligo","synonyms":[{"name":"(S)-glycerol nucleic acid","type":"exact"},{"name":"(S)-glycol nucleic acid","type":"exact"},{"name":"S GNA oligo","type":"exact"}],"termid":"SO:0001197"}


id: FYPO:0007746
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cellular process phenotype in which the spindle elongates during metaphase of the first meiotic nuclear division, when elongation is normally paused.","definition_xrefs":["PMID:32723864","PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal spindle assembly during meiosis I","termid":"FYPO:0007745"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"part_of","termid":"FYPO:0000631"},{"rel_name":"part_of","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0000054"},{"rel_name":"is_a","termid":"FYPO:0000631"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"part_of","termid":"FYPO:0005447"}],"interesting_parent_ids":["FYPO:0005447","FYPO:0001985","FYPO:0000631","FYPO:0000054","FYPO:0000002"],"is_obsolete":false,"name":"normal spindle elongation during meiotic metaphase I","synonyms":[{"name":"normal spindle elongation during meiotic metaphase I spindle phase II","type":"exact"},{"name":"normal spindle elongation during metaphase I","type":"exact"},{"name":"normal spindle elongation during metaphase of meiosis I","type":"exact"}],"termid":"FYPO:0007746"}


id: PBO:0058147
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 4443","termid":"PBO:0058147"}


id: GO:0106378
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: 2-hydroxy-dATP + H2O = 2-hydroxy-dAMP + H+ + diphosphate.","definition_xrefs":["PMID:11139615","RHEA:31583"],"direct_ancestors":[{"relation_name":"is_a","term_name":"nucleoside triphosphate diphosphatase activity","termid":"GO:0047429"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0047429"},{"rel_name":"is_a","termid":"GO:0016787"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0003824"}],"interesting_parent_ids":["GO:0016787","GO:0003674","GO:0047429","GO:0003824"],"is_obsolete":false,"name":"2-hydroxy-dATP hydrolase activity","secondary_identifiers":["Reactome:R-HSA-2395818"],"termid":"GO:0106378"}


id: PBO:0066559
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"regulator of G protein signaling 22","termid":"PBO:0066559"}


id: GO:0006771
data:
  {"annotated_genes":["SJAG_01054","SJAG_00480","SJAG_04711","SJAG_00491","SJAG_00376","SJAG_02491","SJAG_04845","SJAG_02360"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[73068],"is_not":false,"summary":null,"term":"GO:0006771"},{"annotations":[78303,79074,117565,60266,66160,71664,76806],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0009231"}]},"cv_name":"biological_process","definition":"The chemical reactions and pathways involving riboflavin (vitamin B2), the precursor for the coenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD).","definition_xrefs":["GOC:jl","PMID:11153262","PMID:24764086"],"direct_ancestors":[{"relation_name":"is_a","term_name":"water-soluble vitamin metabolic process","termid":"GO:0006767"},{"relation_name":"is_a","term_name":"flavin-containing compound metabolic process","termid":"GO:0042726"}],"gene_count":8,"genes_by_uniquename":{"SJAG_00376":null,"SJAG_00480":null,"SJAG_00491":null,"SJAG_01054":null,"SJAG_02360":null,"SJAG_02491":null,"SJAG_04711":null,"SJAG_04845":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0006766"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0044281"}],"interesting_parent_ids":["GO:0008150","GO:0006766","GO:0044281"],"is_obsolete":false,"name":"riboflavin metabolic process","references_by_uniquename":{"GO_REF:0000002":null,"GO_REF:0000033":null,"GO_REF:0000107":null},"secondary_identifiers":["Reactome:R-HSA-196843","Wikipedia:Riboflavin"],"synonyms":[{"name":"riboflavin metabolism","type":"exact"},{"name":"vitamin B2 metabolic process","type":"exact"},{"name":"vitamin B2 metabolism","type":"exact"},{"name":"vitamin G metabolic process","type":"exact"},{"name":"vitamin G metabolism","type":"exact"}],"termid":"GO:0006771","terms_by_termid":{"GO:0006771":null,"GO:0009231":null}}


id: GO:0075104
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. Any process in which the host organism activates, maintains or increases the frequency, rate or extent of calcium or calmodulin-mediated signal transduction in the symbiont 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 positive regulation by host of symbiont calcium or calmodulin-mediated signal transduction (obsolete GO:0075104)","synonyms":[{"name":"positive regulation by host of symbiont Ca++ or calmodulin-mediated signal transduction","type":"exact"}],"termid":"GO:0075104"}


id: MONDO:0004384
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A benign neoplasm that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma.","definition_xrefs":["NCIT:C6840"],"direct_ancestors":[{"relation_name":"is_a","term_name":"inverted papilloma","termid":"MONDO:0002537"},{"relation_name":"is_a","term_name":"maxillary sinus Schneiderian papilloma","termid":"MONDO:0004457"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"maxillary sinus inverted papilloma","secondary_identifiers":["MEDGEN:277347","UMLS:C1334645","DOID:7868"],"synonyms":[{"name":"inverted papilloma of maxillary sinus","type":"exact"},{"name":"inverted papilloma of the maxillary sinus","type":"exact"},{"name":"maxillary sinus inverted papilloma","type":"exact"}],"termid":"MONDO:0004384","xrefs":{"Monarch":{"xref_id":"0004384"}}}


id: PBO:0045804
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"EDRF1 antisense RNA 1","termid":"PBO:0045804"}


id: PBO:0086918
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Putative zinc finger DNA binding transcription factor; contains two N-terminal C2H2 zinc fingers and C-terminal proline rich domain; overproduction impairs cell growth and induces expression of genes involved in monosaccharide catabolism and aldehyde metabolism; regulates expression of of Y' telomeric elements and subtelomeric COS genes; relocalizes to the cytosol in response to hypoxia; RGM1 has a paralog, USV1, that arose from the whole genome duplication","termid":"PBO:0086918"}


id: PBO:0087284
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Signal recognition particle (SRP) subunit; interacts with the RNA component of SRP to form the Alu domain, which is the region of SRP responsible for arrest of nascent chain elongation during membrane targeting; homolog of mammalian SRP14","termid":"PBO:0087284"}


id: PBO:0069252
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U6 small nuclear 507, pseudogene","termid":"PBO:0069252"}


id: MONDO:0001244
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding.","definition_xrefs":["NCIT:C99108"],"direct_ancestors":[{"relation_name":"is_a","term_name":"vitamin deficiency disorder","termid":"MONDO:0024298"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"vitamin K deficiency hemorrhagic disease","secondary_identifiers":["MEDGEN:543992","ICD10CM:E56.1","ICD9:269.0","MESH:D014813","DOID:11249","SCTID:52675005","UMLS:C0272348"],"synonyms":[{"name":"deficiency of vitamin K","type":"exact"},{"name":"vitamin K deficiency","type":"exact"},{"name":"vitamin K deficiency coagulation disorder","type":"exact"}],"termid":"MONDO:0001244","xrefs":{"Monarch":{"xref_id":"0001244"}}}


id: PBO:0069999
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U6 small nuclear 1294, pseudogene","termid":"PBO:0069999"}


id: GO:0071179
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"A protein complex that consists of the intracellular domain of Notch1 (ICN1), the DNA-binding transcription factor RBP-Jkappa, and the transcriptional coactivator Mastermind-like-3 (MAML3); the complex is involved in transcriptional activation in response to Notch-mediated signaling.","definition_xrefs":["PMID:12370315"],"direct_ancestors":[{"relation_name":"is_a","term_name":"nuclear protein-containing complex","termid":"GO:0140513"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0032991"},{"rel_name":"part_of","termid":"GO:0005634"},{"rel_name":"is_a","termid":"GO:0005575"}],"interesting_parent_ids":["GO:0005634","GO:0032991","GO:0005575"],"is_obsolete":false,"name":"MAML3-RBP-Jkappa-ICN1 complex","synonyms":[{"name":"MAML3-RBP-Jkappa-Notch1 complex","type":"exact"}],"termid":"GO:0071179"}


id: PBO:0054191
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 1566","termid":"PBO:0054191"}


id: MONDO:0017264
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI that are associated with extracutaneous manifestations as part of a syndrome.","definition_xrefs":["Orphanet:281090"],"direct_ancestors":[{"relation_name":"is_a","term_name":"eye disorder","termid":"MONDO:0005328"},{"relation_name":"is_a","term_name":"X-linked ichthyosis syndrome","termid":"MONDO:0017269"}],"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":"syndromic recessive X-linked ichthyosis","secondary_identifiers":["MEDGEN:904038","SCTID:717041008","GARD:17302","UMLS:C4274085"],"synonyms":[{"name":"recessive X-linked ichthyosis with extracutaneous manifestations","type":"exact"},{"name":"syndrome associated with recessive X-linked ichthyosis","type":"exact"},{"name":"syndromic RXLI","type":"exact"},{"name":"syndromic X-linked ichthyosis","type":"exact"},{"name":"syndromic recessive X-linked ichthyosis","type":"exact"}],"termid":"MONDO:0017264","xrefs":{"Monarch":{"xref_id":"0017264"}}}


id: PBO:0061650
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"nudix hydrolase 21 pseudogene 1","termid":"PBO:0061650"}


id: PBO:0003394
data:
  {"annotation_feature_type":"gene","cv_name":"complementation","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"functionally complemented by human INT6","termid":"PBO:0003394"}


id: MONDO:1011300
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Acute disease that occurs in non-human animals.","definition_xrefs":["MONDO:patterns/nonhuman_disease"],"direct_ancestors":[{"relation_name":"is_a","term_name":"non-human animal disease","termid":"MONDO:0005583"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"acute disease, non-human animal","termid":"MONDO:1011300","xrefs":{"Monarch":{"xref_id":"1011300"}}}


id: PBO:0087341
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Specific translational activator for the mitochondrial COX1 mRNA; loosely associated with the matrix face of the mitochondrial inner membrane; localizes to vacuole membrane in response to H2O2; influences both COX1 mRNA translation and Cox1p assembly into cytochrome c oxidase; binds to heme B, which may be a mechanism for sensing oxygen levels in order to regulate cytochrome c oxidase biogenesis","termid":"PBO:0087341"}


id: MONDO:0007817
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Immediate hypersensitivity reaction - type I reaction, involves immunoglobulin E (IgE)-mediated release of chemical mediators from mast cells and basophils. Th2 cells produce IL-4 and IL-13, which then act on B cells to promote the production of antigen-specific IgE. Reexposure to the antigen can then result in the antigen binding to and cross-linking the bound IgE antibodies on the mast cells and basophils. This causes the release of preformed mediators (histamine, tryptase, tryptase, chemotactic factors), newly synthesized mediators (leukotrienes, prostaglandin, thromboxane, platelet-activating factor, adenosine, bradykinin), and cytokines from these cells that results in structural and functional changes to the affected tissue.","definition_xrefs":["NCIT:C3116"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"atopic eczema","termid":"MONDO:0004980"},{"relation_name":"is_a","term_name":"hypersensitivity reaction disease","termid":"MONDO:0000605"},{"relation_name":"is_a","term_name":"hereditary disease","termid":"MONDO:0003847"}],"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":"IgE responsiveness, atopic","secondary_identifiers":["MEDGEN:327063","UMLS:C1840253","MESH:C564133","OMIM:147050"],"synonyms":[{"name":"Atopic hypersensitivity","type":"related"},{"name":"IGER","type":"related"},{"name":"IgE response underlying allergic asthma and rhinitis","type":"related"},{"name":"IgE responsiveness, ATOPIC","type":"related"},{"name":"IgE responsiveness, atopic","type":"exact"},{"name":"IgE, elevated level of","type":"exact"},{"name":"IgE, level of","type":"related"},{"name":"Immunoglobulin E, basic level of, in serum","type":"related"},{"name":"atopy, susceptibility to","type":"related"},{"name":"immediate hypersensitivity","type":"exact"},{"name":"type 1 hypersensitivity","type":"exact"},{"name":"type 1 hypersensitivity reaction","type":"exact"},{"name":"type I hypersensitivity","type":"exact"},{"name":"type I hypersensitivity reaction","type":"exact"},{"name":"type I immediate hypersensitivity reaction","type":"exact"}],"termid":"MONDO:0007817","xrefs":{"Monarch":{"xref_id":"0007817"}}}


id: MONDO:0009235
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.","definition_xrefs":["Orphanet:363989"],"direct_ancestors":[{"relation_name":"is_a","term_name":"inherited retinal dystrophy","termid":"MONDO:0019118"}],"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":"familial benign flecked retina","secondary_identifiers":["DOID:0111677","GARD:18651","ICD10CM:H35.5","OMIM:228980","UMLS:C1856718","MESH:C565564","MEDGEN:341605"],"synonyms":[{"name":"FLECK retina, familial benign","type":"related"},{"name":"FRFB","type":"related"},{"name":"fleck retina, familial benign","type":"exact"}],"termid":"MONDO:0009235","xrefs":{"Monarch":{"xref_id":"0009235"}}}


id: MONDO:0035469
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete primary lymphedema without systemic or visceral involvement (obsolete MONDO:0035469)","secondary_identifiers":["Orphanet:568041"],"termid":"MONDO:0035469","xrefs":{"Monarch":{"xref_id":"0035469"}}}


id: PBO:0055709
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"limb development membrane protein 1","termid":"PBO:0055709"}


id: PBO:0060286
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"myosin light chain 3","termid":"PBO:0060286"}


id: MONDO:0056806
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A squamous cell carcinoma that arises from the lung. It is characterized by the presence of large malignant cells. It includes the clear cell and papillary variants of squamous cell carcinoma.","definition_xrefs":["NCIT:C133254"],"direct_ancestors":[{"relation_name":"is_a","term_name":"squamous cell lung carcinoma","termid":"MONDO:0005097"},{"relation_name":"is_a","term_name":"non-small cell lung carcinoma","termid":"MONDO:0005233"}],"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":"non-small cell squamous lung carcinoma","secondary_identifiers":["MEDGEN:1383559","UMLS:C4509816","SCTID:723301009","DOID:0080521"],"synonyms":[{"name":"non-small cell squamous lung cancer","type":"exact"},{"name":"non-small cell squamous lung carcinoma","type":"exact"},{"name":"squamous non-small cell lung carcinoma","type":"exact"}],"termid":"MONDO:0056806","xrefs":{"Monarch":{"xref_id":"0056806"}}}


id: MONDO:0005287
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)","definition_xrefs":["MESH:D002658"],"direct_ancestors":[{"relation_name":"is_a","term_name":"nervous system disorder","termid":"MONDO:0005071"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"developmental disability","secondary_identifiers":["EFO:0003852"],"termid":"MONDO:0005287","xrefs":{"Monarch":{"xref_id":"0005287"}}}


id: GO:0061362
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that decreases the frequency, rate or extent of maintenance of bipolar cell polarity regulating cell shape.","definition_xrefs":["GOC:dph"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of maintenance of bipolar cell polarity regulating cell shape","termid":"GO:2000115"},{"relation_name":"is_a","term_name":"negative regulation of establishment or maintenance of bipolar cell polarity regulating cell shape","termid":"GO:2000750"},{"relation_name":"negatively_regulates","term_name":"maintenance of bipolar cell polarity regulating cell shape","termid":"GO:0061305"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"regulates","termid":"GO:0007163"},{"rel_name":"negatively_regulates","termid":"GO:0007163"}],"interesting_parent_ids":["GO:0007163","GO:0008150"],"is_obsolete":false,"name":"negative regulation of maintenance of bipolar cell polarity regulating cell shape","termid":"GO:0061362"}


id: GO:0061087
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. Any process that increases the rate, frequency, or extent of histone H3-K27 methylation. Histone H3-K27 methylation is the modification of histone H3 by addition of a methyl group to lysine at position 27 of the histone.","definition_xrefs":["GOC:dph","GOC:tb"],"gene_count":0,"genotype_count":0,"name":"obsolete positive regulation of histone H3-K27 methylation (obsolete GO:0061087)","termid":"GO:0061087"}


id: GO:0009519
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"Layer of intercellular material, chiefly pectic substances, cementing together the primary walls of contiguous cells.","definition_xrefs":["ISBN:0471245208"],"direct_ancestors":[{"relation_name":"is_a","term_name":"specialized extracellular matrix","termid":"GO:0140047"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005575"}],"interesting_parent_ids":["GO:0005575"],"is_obsolete":false,"name":"middle lamella","secondary_identifiers":["Wikipedia:Middle_lamella"],"termid":"GO:0009519"}


id: PBO:0045815
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"eukaryotic translation elongation factor 1 alpha 1 pseudogene 5","termid":"PBO:0045815"}


id: GO:0015182
data:
  {"annotated_genes":["SJAG_04725","SJAG_02029"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[103167,110411],"is_not":false,"summary":null,"term":"GO:0015182"}]},"cv_name":"molecular_function","definition":"Enables the transfer of L-asparagine from one side of a membrane to the other. L-asparagine is the L-enantiomer of alpha-aminosuccinamic acid.","definition_xrefs":["GOC:mah","GOC:jsg","ISBN:0198506732","GOC:go_curators","ISBN:0815340729","GOC:mtg_transport"],"direct_ancestors":[{"relation_name":"is_a","term_name":"organic cation transmembrane transporter activity","termid":"GO:0015101"},{"relation_name":"is_a","term_name":"neutral L-amino acid transmembrane transporter activity","termid":"GO:0015175"},{"relation_name":"is_a","term_name":"L-amino acid transmembrane transporter activity","termid":"GO:0015179"},{"relation_name":"is_a","term_name":"amide transmembrane transporter activity","termid":"GO:0042887"}],"gene_count":2,"genes_by_uniquename":{"SJAG_02029":null,"SJAG_04725":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005215"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0022857"}],"interesting_parent_ids":["GO:0022857","GO:0003674","GO:0005215"],"is_obsolete":false,"name":"L-asparagine transmembrane transporter activity","references_by_uniquename":{"GO_REF:0000107":null},"synonyms":[{"name":"L-asparagine transporter activity","type":"broad"},{"name":"asparagine/glutamine permease activity","type":"narrow"}],"termid":"GO:0015182","terms_by_termid":{"GO:0015182":null}}


id: PBO:0055113
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 2532","termid":"PBO:0055113"}


id: GO:0018922
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways involving prodione, a colorless, odorless crystal. It is used as a dicarboximide contact fungicide to control a wide variety of crop diseases by inhibiting the germination of spores and the growth of the fungal mat (mycelium).","definition_xrefs":["UM-BBD_pathwayID:ipd"],"direct_ancestors":[{"relation_name":"is_a","term_name":"benzene-containing compound metabolic process","termid":"GO:0042537"},{"relation_name":"is_a","term_name":"amide metabolic process","termid":"GO:0043603"},{"relation_name":"is_a","term_name":"imidazole-containing compound metabolic process","termid":"GO:0052803"},{"relation_name":"is_a","term_name":"organohalogen metabolic process","termid":"GO:0090345"}],"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":"iprodione metabolic process","synonyms":[{"name":"iprodione metabolism","type":"exact"}],"termid":"GO:0018922"}


id: GO:1902883
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents or reduces the frequency, rate or extent of response to oxidative stress.","definition_xrefs":["PMID:16899554","GO_REF:0000058","GOC:kmv","GOC:TermGenie"],"direct_ancestors":[{"relation_name":"is_a","term_name":"negative regulation of response to stimulus","termid":"GO:0048585"},{"relation_name":"is_a","term_name":"regulation of response to oxidative stress","termid":"GO:1902882"},{"relation_name":"negatively_regulates","term_name":"response to oxidative stress","termid":"GO:0006979"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"negative regulation of response to oxidative stress","synonyms":[{"name":"down regulation of response to oxidative stress","type":"exact"},{"name":"down-regulation of response to oxidative stress","type":"exact"},{"name":"downregulation of response to oxidative stress","type":"exact"},{"name":"inhibition of response to oxidative stress","type":"narrow"}],"termid":"GO:1902883"}


id: PBO:0039182
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"A-kinase anchoring protein 12","termid":"PBO:0039182"}


id: PR:P78825
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"An adenosine kinase that is encoded in the genome of Schizosaccharomyces pombe 972h-.","definition_xrefs":["PRO:DNx","OMA:SCHPO04645"],"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":"adenosine kinase (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPCC338.14","secondary_identifiers":["UniProtKB:P78825"],"synonyms":[{"name":"Spom972h-ADK","type":"exact"}],"termid":"PR:P78825"}


id: PBO:0052719
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"keratin 18 pseudogene 11","termid":"PBO:0052719"}


id: GO:0072147
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process in which the developmental fate of a cell becomes restricted such that it will develop into a glomerular parietal epithelial cell. Glomerular parietal epithelial cells are specialized epithelial cells that form tight junctions as a barrier to protein transport. These cells may also give rise to podocytes.","definition_xrefs":["GOC:mtg_kidney_jan10"],"direct_ancestors":[{"relation_name":"is_a","term_name":"epithelial cell fate commitment","termid":"GO:0072148"},{"relation_name":"is_a","term_name":"glomerular epithelial cell fate commitment","termid":"GO:0072314"},{"relation_name":"part_of","term_name":"glomerular parietal epithelial cell differentiation","termid":"GO:0072139"}],"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":"glomerular parietal epithelial cell fate commitment","synonyms":[{"name":"Bowman's capsule cell fate commitment","type":"exact"}],"termid":"GO:0072147"}


id: PBO:0052397
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"kinesin family member C3","termid":"PBO:0052397"}


id: PBO:0114081
data:
  {"annotation_feature_type":"gene","cv_name":"name_description","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Regulator of Heat Sensitivity","termid":"PBO:0114081"}


id: GO:0036255
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 methylamine stimulus.","definition_xrefs":["GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"response to amine","termid":"GO:0014075"}],"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 methylamine","termid":"GO:0036255"}


id: PBO:0072042
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein S10 pseudogene 12","termid":"PBO:0072042"}


id: MONDO:0001390
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"refractive error","termid":"MONDO:0004892"}],"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":"transient refractive change","secondary_identifiers":["UMLS:C0155000","SCTID:81519008","ICD9:367.81","MEDGEN:509757","DOID:11850","icd11.foundation:416871389"],"termid":"MONDO:0001390","xrefs":{"Monarch":{"xref_id":"0001390"}}}


id: PBO:0088910
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"serine/threonine protein phosphatase PP6 catalytic subunit Ppe1","termid":"PBO:0088910"}


id: MONDO:0012579
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by the accumulation of a lipoproteinaceous substance in the distal air spaces which positively stains with periodic acid-Schiff (PAS).","definition_xrefs":["Orphanet:747"],"direct_ancestors":[{"relation_name":"is_a","term_name":"pulmonary alveolar proteinosis","termid":"MONDO:0001437"},{"relation_name":"is_a","term_name":"autoimmune disease","termid":"MONDO:0007179"}],"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":"autoimmune pulmonary alveolar proteinosis","secondary_identifiers":["NORD:1633","MESH:C567049","NANDO:1200747","UMLS:C1970472","icd11.foundation:676409940","MEDGEN:410079","SCTID:707443007","OMIM:610910","NANDO:1200748","GARD:7499"],"synonyms":[{"name":"APAP","type":"exact"},{"name":"PAP","type":"related"},{"name":"PAP acquired","type":"related"},{"name":"Pap, acquired","type":"related"},{"name":"Pulmonary Alveolar Proteinosis","type":"exact"},{"name":"acquired pulmonary alveolar proteinosis","type":"related"},{"name":"autoimmune PAP","type":"exact"},{"name":"iPAP","type":"exact"},{"name":"idiopathic PAP","type":"exact"},{"name":"idiopathic pulmonary alveolar proteinosis","type":"exact"},{"name":"pulmonary alveolar lipoproteinosis acquired","type":"related"},{"name":"pulmonary alveolar lipoproteinosis, acquired","type":"related"},{"name":"pulmonary alveolar proteinosis acquired","type":"related"},{"name":"pulmonary alveolar proteinosis autoimmune","type":"related"},{"name":"pulmonary alveolar proteinosis, acquired","type":"related"},{"name":"pulmonary alveolar proteinosis, autoimmune","type":"related"}],"termid":"MONDO:0012579","xrefs":{"Monarch":{"xref_id":"0012579"}}}


id: MONDO:0013801
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"undetermined early-onset epileptic encephalopathy","termid":"MONDO:0018614"},{"relation_name":"is_a","term_name":"neonatal-onset developmental and epileptic encephalopathy","termid":"MONDO:0100455"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005066"},{"rel_name":"is_a","termid":"MONDO:0004736"},{"rel_name":"is_a","termid":"MONDO:0005027"},{"rel_name":"is_a","termid":"MONDO:0700092"}],"interesting_parent_ids":["MONDO:0004736","MONDO:0700092","MONDO:0005066","MONDO:0005027"],"is_obsolete":false,"name":"developmental and epileptic encephalopathy, 13","secondary_identifiers":["UMLS:C3281191","OMIM:614558","GARD:13085","DOID:0080445","MEDGEN:482821","SCTID:765170001"],"synonyms":[{"name":"DEE13","type":"exact"},{"name":"EIEE13","type":"exact"},{"name":"SCN8A early infantile epileptic encephalopathy","type":"exact"},{"name":"SCN8A encephalopathy","type":"related"},{"name":"SCN8A epilepsy","type":"related"},{"name":"developmental and epileptic encephalopathy 13","type":"exact"},{"name":"early infantile epileptic encephalopathy caused by mutation in SCN8A","type":"exact"},{"name":"early infantile epileptic encephalopathy-13","type":"exact"},{"name":"epileptic encephalopathy, early infantile, 13","type":"exact"},{"name":"epileptic encephalopathy, early infantile, type 13","type":"exact"}],"termid":"MONDO:0013801","xrefs":{"Monarch":{"xref_id":"0013801"}}}


id: PBO:0062939
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"P4HA3 antisense RNA 1","termid":"PBO:0062939"}


id: MONDO:0017283
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"DeSanto-Shinawi syndrome due to WAC point mutation","termid":"MONDO:0014741"},{"relation_name":"is_a","term_name":"partial deletion of the short arm of chromosome 10","termid":"MONDO:0016892"},{"relation_name":"is_a","term_name":"DeSanto-Shinawi syndrome","termid":"MONDO:0018760"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion","secondary_identifiers":["GARD:17311","MEDGEN:1681325","Orphanet:284169","UMLS:C5190804"],"synonyms":[{"name":"10p12p11 microdeletion syndrome","type":"exact"},{"name":"Del(10)(p11.21p12.31)","type":"exact"},{"name":"deletion 10p11.21p12.31","type":"exact"},{"name":"facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion","type":"exact"},{"name":"monosomy 10p11.21p12.31","type":"exact"}],"termid":"MONDO:0017283","xrefs":{"Monarch":{"xref_id":"0017283"}}}


id: GO:0030011
data:
  {"annotated_genes":["SJAG_01722","SJAG_00355","SJAG_03718"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[70688,71900,73720],"is_not":false,"summary":null,"term":"GO:0030011"}]},"cv_name":"biological_process","definition":"The maintenance of established anisotropic intracellular organization or cell growth patterns.","definition_xrefs":["GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"establishment or maintenance of cell polarity","termid":"GO:0007163"}],"gene_count":3,"genes_by_uniquename":{"SJAG_00355":null,"SJAG_01722":null,"SJAG_03718":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0007163"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0007163","GO:0008150"],"is_obsolete":false,"name":"maintenance of cell polarity","references_by_uniquename":{"GO_REF:0000033":null},"secondary_identifiers":["GO:0030013","GO:0030469"],"termid":"GO:0030011","terms_by_termid":{"GO:0030011":null}}


id: MONDO:0011303
data:
  {"annotated_genes":["SJAG_04621"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[85460],"is_not":false,"summary":null,"term":"MONDO:0011303"}]},"cv_name":"mondo","definition":"Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"inherited focal segmental glomerulosclerosis","termid":"MONDO:0005363"},{"relation_name":"is_a","term_name":"familial idiopathic steroid-resistant nephrotic syndrome","termid":"MONDO:0019006"}],"gene_count":1,"genes_by_uniquename":{"SJAG_04621":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005240"}],"interesting_parent_ids":["MONDO:0005240"],"is_obsolete":false,"name":"focal segmental glomerulosclerosis 1","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["GARD:15353","DOID:0111128","Orphanet:93213","MEDGEN:1636833","OMIM:603278","UMLS:C4551527","MESH:C538457"],"synonyms":[{"name":"ACTN4 focal segmental glomerulosclerosis","type":"exact"},{"name":"FSGS1","type":"exact"},{"name":"familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis","type":"exact"},{"name":"familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis","type":"related"},{"name":"focal segmental glomerulosclerosis 1","type":"exact"},{"name":"focal segmental glomerulosclerosis caused by mutation in ACTN4","type":"exact"},{"name":"focal segmental glomerulosclerosis type 1","type":"exact"},{"name":"glomerulosclerosis, focal segmental, 1","type":"related"}],"termid":"MONDO:0011303","terms_by_termid":{"MONDO:0011303":null},"xrefs":{"Monarch":{"xref_id":"0011303"}}}


id: PBO:0084408
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Lyso-phosphatidylcholine acyltransferase; required for normal phospholipid content of mitochondrial membranes; major determinant of the final acyl chain composition of the mitochondrial-specific phospholipid cardiolipin; mutations in human ortholog tafazzin (TAZ) cause Barth syndrome, a rare X-linked disease characterized by skeletal and cardiomyopathy and bouts of cyclic neutropenia; a specific splice variant of human TAZ can complement yeast null mutant","termid":"PBO:0084408"}


id: PBO:0041960
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"colon cancer associated transcript 2","termid":"PBO:0041960"}


id: GO:2001117
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways involving a tetrahydromethanopterin.","definition_xrefs":["GOC:mengo_curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"methanopterin-containing compound metabolic process","termid":"GO:2001115"}],"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":"tetrahydromethanopterin metabolic process","synonyms":[{"name":"tetrahydromethanopterin metabolism","type":"exact"}],"termid":"GO:2001117"}


id: MONDO:0003673
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the apex of the heart.","definition_xrefs":["NCIT:P378"],"direct_ancestors":[{"relation_name":"is_a","term_name":"myocardial infarction","termid":"MONDO:0005068"}],"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":"apical myocardial infarction","secondary_identifiers":["DOID:5848","MEDGEN:770959","UMLS:C3642319"],"termid":"MONDO:0003673","xrefs":{"Monarch":{"xref_id":"0003673"}}}


id: GO:0015475
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"OBSOLETE. Enables the transfer of adhesin from the periplasm to the external milieu; the adhesin and the porin are the N- and C-terminal regions of the same protein, respectively.","definition_xrefs":["GOC:mtg_transport","ISBN:0815340729"],"gene_count":0,"genotype_count":0,"name":"obsolete adhesin autotransporter activity (obsolete GO:0015475)","termid":"GO:0015475"}


id: GO:1900948
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents or reduces the frequency, rate or extent of isoprene biosynthetic process.","definition_xrefs":["GOC:TermGenie","GOC:mengo_curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"negative regulation of lipid biosynthetic process","termid":"GO:0051055"},{"relation_name":"is_a","term_name":"negative regulation of olefin biosynthetic process","termid":"GO:1900912"},{"relation_name":"is_a","term_name":"negative regulation of isoprene metabolic process","termid":"GO:1900945"},{"relation_name":"is_a","term_name":"regulation of isoprene biosynthetic process","termid":"GO:1900947"},{"relation_name":"negatively_regulates","term_name":"isoprene biosynthetic process","termid":"GO:0043612"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"negatively_regulates","termid":"GO:0006629"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"regulates","termid":"GO:0006629"}],"interesting_parent_ids":["GO:0008150","GO:0006629"],"is_obsolete":false,"name":"negative regulation of isoprene biosynthetic process","synonyms":[{"name":"down regulation of 2-methyl-1,3-butadiene biosynthesis","type":"exact"},{"name":"down regulation of 2-methyl-1,3-butadiene biosynthetic process","type":"exact"},{"name":"down regulation of hemiterpene biosynthesis","type":"exact"},{"name":"down regulation of hemiterpene biosynthetic process","type":"exact"},{"name":"down regulation of isoprene biosynthetic process","type":"exact"},{"name":"down-regulation of 2-methyl-1,3-butadiene biosynthesis","type":"exact"},{"name":"down-regulation of 2-methyl-1,3-butadiene biosynthetic process","type":"exact"},{"name":"down-regulation of hemiterpene biosynthesis","type":"exact"},{"name":"down-regulation of hemiterpene biosynthetic process","type":"exact"},{"name":"down-regulation of isoprene biosynthetic process","type":"exact"},{"name":"downregulation of 2-methyl-1,3-butadiene biosynthesis","type":"exact"},{"name":"downregulation of 2-methyl-1,3-butadiene biosynthetic process","type":"exact"},{"name":"downregulation of hemiterpene biosynthesis","type":"exact"},{"name":"downregulation of hemiterpene biosynthetic process","type":"exact"},{"name":"downregulation of isoprene biosynthetic process","type":"exact"},{"name":"inhibition of 2-methyl-1,3-butadiene biosynthesis","type":"narrow"},{"name":"inhibition of 2-methyl-1,3-butadiene biosynthetic process","type":"narrow"},{"name":"inhibition of hemiterpene biosynthesis","type":"narrow"},{"name":"inhibition of hemiterpene biosynthetic process","type":"narrow"},{"name":"inhibition of isoprene biosynthetic process","type":"narrow"},{"name":"negative regulation of 2-methyl-1,3-butadiene biosynthesis","type":"exact"},{"name":"negative regulation of 2-methyl-1,3-butadiene biosynthetic process","type":"exact"},{"name":"negative regulation of hemiterpene biosynthesis","type":"exact"},{"name":"negative regulation of hemiterpene biosynthetic process","type":"exact"}],"termid":"GO:1900948"}


id: MONDO:0012589
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.","definition_xrefs":["Orphanet:2896"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"syndromic intellectual disability","termid":"MONDO:0000508"},{"relation_name":"excluded_subClassOf","term_name":"monogenic epilepsy","termid":"MONDO:0015653"},{"relation_name":"is_a","term_name":"syndromic disease","termid":"MONDO:0002254"},{"relation_name":"is_a","term_name":"hereditary disease","termid":"MONDO:0003847"},{"relation_name":"is_a","term_name":"multiple congenital anomalies/dysmorphic syndrome-intellectual disability","termid":"MONDO:0015159"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Pitt-Hopkins syndrome","secondary_identifiers":["NCIT:C129872","OMIM:610954","DOID:0060488","icd11.foundation:2040786134","MESH:C537403","NORD:1921","GARD:4372","SCTID:702344008","ICD9:758.5","UMLS:C1970431","MEDGEN:370910"],"synonyms":[{"name":"PTHS","type":"related"},{"name":"Pitt Hopkins syndrome","type":"related"},{"name":"Pitt-Hopkins syndrome","type":"exact"},{"name":"encephalopathy, Severe epileptic, with autonomic dysfunction","type":"related"},{"name":"intellectual disability, Syndromal, with intermittent hyperventilation","type":"related"},{"name":"intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea","type":"related"},{"name":"mental retardation, Syndromal, with intermittent hyperventilation","type":"related"}],"termid":"MONDO:0012589","xrefs":{"Monarch":{"xref_id":"0012589"}}}


id: PBO:0034610
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-increased_protein_level_during_meiotic_anaphase_I","termid":"PBO:0034610"}


id: MONDO:0000809
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A severe, rapidly fatal reaction occurring most commonly in children following an infectious illness. It is characterized by large, rapidly spreading skin hemorrhages, fever, or shock. Purpura fulminans often accompanies or is triggered by disseminated intravascular coagulation.","definition_xrefs":["MESH:D055665"],"direct_ancestors":[{"relation_name":"is_a","term_name":"disseminated intravascular coagulation","termid":"MONDO:0001243"},{"relation_name":"is_a","term_name":"purpura","termid":"MONDO:0002610"}],"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":"purpura fulminans","secondary_identifiers":["MEDGEN:88448","DOID:0060538","icd11.foundation:1293848111","UMLS:C0085650","SCTID:13507004"],"synonyms":[{"name":"fibrinolytic purpura","type":"related"},{"name":"purpura gangrenosa","type":"exact"}],"termid":"MONDO:0000809","xrefs":{"Monarch":{"xref_id":"0000809"}}}


id: GO:0035981
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process in which a relatively unspecialized cell acquires specialized features of a tongue muscle cell.","definition_xrefs":["CL:0002673","GOC:yaf","PMID:3393851"],"direct_ancestors":[{"relation_name":"is_a","term_name":"skeletal muscle fiber differentiation","termid":"GO:0098528"}],"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":"tongue muscle cell differentiation","termid":"GO:0035981"}


id: PBO:0034630
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_localization_to_nuclear_envelope_during_G0_to_G1_transition","termid":"PBO:0034630"}


id: PBO:0052671
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"keratin 8 pseudogene 39","termid":"PBO:0052671"}


id: PR:O74398
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A prickle-like protein 4 that is encoded in the genome of Schizosaccharomyces pombe 972h-.","definition_xrefs":["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":"LIM domain-containing protein C4F6.12 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPBC4F6.12","secondary_identifiers":["UniProtKB:O74398"],"synonyms":[{"name":"Spom972h-PRICKLE4","type":"exact"}],"termid":"PR:O74398"}


id: GO:0005042
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Combining with a netrin signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity.","definition_xrefs":["PMID:15960985","GOC:dph","GOC:signaling"],"direct_ancestors":[{"relation_name":"is_a","term_name":"transmembrane signaling receptor activity","termid":"GO:0004888"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0038023"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0038023","GO:0003674"],"is_obsolete":false,"name":"netrin receptor activity","termid":"GO:0005042"}


id: PATO:0002214
data:
  {"annotation_feature_type":"gene","cv_name":"quality","definition":"A lobed quality inhering in a bearer by virtue of the bearer's being divided into or having two lobes.","definition_xrefs":["thefreedictionary:http://www.thefreedictionary.com/bilobed"],"direct_ancestors":[{"relation_name":"is_a","term_name":"lobed","termid":"PATO:0001979"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"bilobed","termid":"PATO:0002214"}


id: GO:0030727
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Formation, in a germarium, of a group of interconnected cells derived from a single female gonial founder cell (a cystoblast). The germarium is the most anterior portion of an insect ovariole. An example of this process is found in Drosophila melanogaster.","definition_xrefs":["PMID:9442902","GOC:mtg_sensu","PMID:10370240"],"direct_ancestors":[{"relation_name":"is_a","term_name":"female germ-line cyst formation","termid":"GO:0048135"},{"relation_name":"part_of","term_name":"germarium-derived egg chamber formation","termid":"GO:0007293"}],"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":"germarium-derived female germ-line cyst formation","synonyms":[{"name":"germarium-derived female germline cyst formation","type":"exact"}],"termid":"GO:0030727"}


id: PBO:0054708
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 2117","termid":"PBO:0054708"}


id: GO:0045511
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Binding to interleukin-25.","definition_xrefs":["GOC:go_curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"interleukin-17 binding","termid":"GO:0019975"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0005515"},{"rel_name":"is_a","termid":"GO:0005488"}],"interesting_parent_ids":["GO:0005488","GO:0005515","GO:0003674"],"is_obsolete":false,"name":"interleukin-25 binding","synonyms":[{"name":"IL-25 binding","type":"exact"}],"termid":"GO:0045511"}


id: GO:0034502
data:
  {"annotated_genes":["SJAG_04126","SJAG_04259","SJAG_02336","SJAG_02761","SJAG_01297","SJAG_03327","SJAG_03540"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[59718,78355,75763],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0034501"},{"annotations":[100751,108646,104266,119061],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0140210"}]},"cv_name":"biological_process","definition":"Any process in which a protein is transported to, or maintained at, a specific location on a chromosome.","definition_xrefs":["GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"protein localization to organelle","termid":"GO:0033365"}],"gene_count":7,"genes_by_uniquename":{"SJAG_01297":null,"SJAG_02336":null,"SJAG_02761":null,"SJAG_03327":null,"SJAG_03540":null,"SJAG_04126":null,"SJAG_04259":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0051179"}],"interesting_parent_ids":["GO:0008150","GO:0051179"],"is_obsolete":false,"name":"protein localization to chromosome","references_by_uniquename":{"GO_REF:0000002":null,"GO_REF:0000033":null,"GO_REF:0000107":null},"synonyms":[{"name":"condensin localization to chromosome","type":"narrow"},{"name":"protein localisation to chromosome","type":"exact"}],"termid":"GO:0034502","terms_by_termid":{"GO:0034501":null,"GO:0140210":null}}


id: PBO:0080056
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ubiquitin specific peptidase 27 X-linked","termid":"PBO:0080056"}


id: PBO:0071748
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein L41 pseudogene 4","termid":"PBO:0071748"}


id: PATO:0000629
data:
  {"annotation_feature_type":"gene","cv_name":"quality","definition":"A positional quality inhering in a bearer by virtue of the bearer's having mistakenly taken course, way, or passage; ill-routed.","definition_xrefs":["NDI:NDI"],"direct_ancestors":[{"relation_name":"is_a","term_name":"position","termid":"PATO:0000140"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"misrouted","termid":"PATO:0000629"}


id: PBO:0116664
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ARF like GTPase 4D","termid":"PBO:0116664"}


id: MOD:01186
data:
  {"annotation_feature_type":"gene","cv_name":"PSI-MOD","definition":"A protein modification that effectively converts an L-threonine residue to either N-acetyl-L-threonne, or O-acetyl-Lthreonine.","definition_xrefs":["PubMed:18688235"],"direct_ancestors":[{"relation_name":"is_a","term_name":"acetylated residue","termid":"MOD:00394"},{"relation_name":"is_a","term_name":"modified L-threonine residue","termid":"MOD:00917"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"acetylated L-threonine","synonyms":[{"name":"AcThr","type":"exact"}],"termid":"MOD:01186"}


id: MONDO:0010964
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A3 gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"multiple epiphyseal dysplasia due to collagen 9 anomaly","termid":"MONDO:0015627"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005497"}],"interesting_parent_ids":["MONDO:0005497"],"is_obsolete":false,"name":"epiphyseal dysplasia, multiple, 3","secondary_identifiers":["OMIM:600969","MEDGEN:322091","GARD:9792","DOID:0070304","MESH:C535503","UMLS:C1832998"],"synonyms":[{"name":"COL9A3 multiple epiphyseal dysplasia (disease)","type":"exact"},{"name":"EDM3","type":"related"},{"name":"epiphyseal dysplasia multiple 3","type":"related"},{"name":"epiphyseal dysplasia, multiple, 3","type":"exact"},{"name":"epiphyseal dysplasia, multiple, 3, with myopathy","type":"related"},{"name":"epiphyseal dysplasia, multiple, 3, with or without myopathy","type":"exact"},{"name":"epiphyseal dysplasia, multiple, type 3","type":"exact"},{"name":"multiple epiphyseal dysplasia (disease) caused by mutation in COL9A3","type":"exact"},{"name":"multiple epiphyseal dysplasia 3","type":"related"}],"termid":"MONDO:0010964","xrefs":{"Monarch":{"xref_id":"0010964"}}}


id: PBO:0070953
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein L18a pseudogene 8","termid":"PBO:0070953"}


id: PBO:0053078
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"lebercilin LCA5","termid":"PBO:0053078"}


id: _global:has_cross_section
data:
  {"annotation_feature_type":"gene","cv_name":"quality","definition":"s3 has_cross_section s3 if and only if : there exists some 2d plane that intersects the bearer of s3, and the impression of s3 upon that plane has shape quality s2.","definition_xrefs":["PATOC:CJM"],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"has_cross_section","termid":"_global:has_cross_section"}


id: GO:0042355
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the breakdown of L-fucose (6-deoxy-Lgalactose).","definition_xrefs":["GOC:jl"],"direct_ancestors":[{"relation_name":"is_a","term_name":"fucose catabolic process","termid":"GO:0019317"},{"relation_name":"is_a","term_name":"L-fucose metabolic process","termid":"GO:0042354"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0044281"},{"rel_name":"is_a","termid":"GO:0005975"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0044281","GO:0008150","GO:0005975"],"is_obsolete":false,"name":"L-fucose catabolic process","synonyms":[{"name":"L-fucose breakdown","type":"exact"},{"name":"L-fucose catabolism","type":"exact"},{"name":"L-fucose degradation","type":"exact"}],"termid":"GO:0042355"}


id: PBO:0079799
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"UDP glucuronosyltransferase family 2 member B10","termid":"PBO:0079799"}


id: PBO:0004303
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ubiquitin conjugating enzyme Ubc1 (predicted)","termid":"PBO:0004303"}


id: PBO:0017431
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-assayed_enzyme","termid":"PBO:0017431"}


id: FYPO:0004405
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A phenotype observed in the vegetative growth phase of the life cycle in which cells show increased sensitivity to JM335. Cells stop growing (and may die) at a concentration of JM335 that allows wild type cells to grow.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"increased sensitivity to chemical during vegetative growth","termid":"FYPO:0000127"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0000139"},{"rel_name":"is_a","termid":"FYPO:0000003"},{"rel_name":"is_a","termid":"FYPO:0002683"},{"rel_name":"is_a","termid":"FYPO:0001985"}],"interesting_parent_ids":["FYPO:0000003","FYPO:0005447","FYPO:0001985","FYPO:0002683","FYPO:0000139"],"is_obsolete":false,"name":"sensitive to JM335","synonyms":[{"name":"hypersensitive to JM335","type":"exact"},{"name":"sensitive to JM335 during mitotic cell cycle","type":"related"},{"name":"sensitive to JM335 during vegetative growth","type":"exact"}],"termid":"FYPO:0004405"}


id: PBO:0029383
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-sensitive_to_trichostatin_A","termid":"PBO:0029383"}


id: MONDO:0010154
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Trigonocephaly-bifid nose-acral anomalies syndrome is characterized by trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges.","definition_xrefs":["Orphanet:3368"],"direct_ancestors":[{"relation_name":"is_a","term_name":"multiple congenital anomalies/dysmorphic syndrome without intellectual disability","termid":"MONDO:0015161"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"trigonocephaly-bifid nose-acral anomalies syndrome","secondary_identifiers":["MEDGEN:341296","MESH:C564759","OMIM:275595","UMLS:C1848743","GARD:5126"],"synonyms":[{"name":"trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotonia","type":"related"},{"name":"trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet","type":"related"},{"name":"trigonocephaly - bifid nose - acral anomalies","type":"related"}],"termid":"MONDO:0010154","xrefs":{"Monarch":{"xref_id":"0010154"}}}


id: SO:0001404
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"A post translationally modified proline amino acid feature.","definition_xrefs":["SO:ke"],"direct_ancestors":[{"relation_name":"is_a","term_name":"modified_amino_acid_feature","termid":"SO:0001385"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"modified_L_proline","secondary_identifiers":["MOD:00915"],"synonyms":[{"name":"ModPro","type":"exact"},{"name":"modified L proline","type":"exact"},{"name":"modified L-proline ","type":"exact"}],"termid":"SO:0001404"}


id: GO:0008051
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"OBSOLETE. A complex that possesses farnesyl-diphosphate farnesyl transferase activity.","definition_xrefs":["GOC:mah"],"gene_count":0,"genotype_count":0,"name":"obsolete farnesyl-diphosphate farnesyl transferase complex (obsolete GO:0008051)","synonyms":[{"name":"farnesyl-diphosphate farnesyl transferase complex","type":"exact"}],"termid":"GO:0008051"}


id: PBO:0000514
data:
  {"annotation_feature_type":"gene","cv_name":"complementation","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"functionally complemented by S. cerevisiae YKR079C","termid":"PBO:0000514"}


id: MONDO:0002215
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete atypical teratoid rhabdoid tumor (obsolete MONDO:0002215)","termid":"MONDO:0002215","xrefs":{"Monarch":{"xref_id":"0002215"}}}


id: PBO:0076960
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"transforming growth factor beta receptor 3","termid":"PBO:0076960"}


id: PBO:0045659
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"dishevelled segment polarity protein 3","termid":"PBO:0045659"}


id: PBO:0049286
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"glutathione S-transferase alpha 5","termid":"PBO:0049286"}


id: MONDO:0018868
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A rare lysosomal storage disorder characterized by intralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function.","definition_xrefs":["Orphanet:512"],"direct_ancestors":[{"relation_name":"is_a","term_name":"hereditary dementia","termid":"MONDO:0015547"},{"relation_name":"is_a","term_name":"leukodystrophy","termid":"MONDO:0019046"},{"relation_name":"is_a","term_name":"sphingolipidosis","termid":"MONDO:0019255"},{"relation_name":"is_a","term_name":"hereditary peripheral neuropathy","termid":"MONDO:0020127"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005559"},{"rel_name":"is_a","termid":"MONDO:0002039"},{"rel_name":"is_a","termid":"MONDO:0002561"},{"rel_name":"is_a","termid":"MONDO:0002525"},{"rel_name":"is_a","termid":"MONDO:0005066"},{"rel_name":"is_a","termid":"MONDO:0005244"}],"interesting_parent_ids":["MONDO:0002039","MONDO:0002561","MONDO:0005559","MONDO:0005066","MONDO:0002525","MONDO:0005244"],"is_obsolete":false,"name":"metachromatic leukodystrophy","secondary_identifiers":["NORD:1369","NANDO:1200078","SCTID:396338004","UMLS:C0023522","MESH:D007966","MedDRA:10067609","MEDGEN:6071","NANDO:2200560","SCTID:238031009","DOID:10581","GARD:3230","SCTID:66521008","NCIT:C61251","icd11.foundation:172326564"],"synonyms":[{"name":"MLD","type":"exact"},{"name":"Scholz cerebral sclerosis","type":"exact"},{"name":"arylsulfatase A deficiency","type":"exact"},{"name":"deficiency of cerebroside-sulfatase","type":"exact"},{"name":"sulfatide lipoidosis","type":"exact"}],"termid":"MONDO:0018868","xrefs":{"Monarch":{"xref_id":"0018868"}}}


id: FYPO:0003135
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cell adhesion phenotype in which cells adhere to other cells of compatible mating type normally (i.e. agglutination is indistinguishable from wild type).","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 agglutination","synonyms":[{"name":"normal agglutination involved in conjugation with cellular fusion","type":"exact"}],"termid":"FYPO:0003135"}


id: PATO:0002206
data:
  {"annotation_feature_type":"gene","cv_name":"quality","definition":"A maturity quality inhering to a bearer by virtue of the bearer's being at the point or short after birth.","definition_xrefs":["PATOC:GVG"],"direct_ancestors":[{"relation_name":"is_a","term_name":"maturity","termid":"PATO:0000261"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"neonatal","termid":"PATO:0002206"}


id: PBO:0028895
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-increased_antisense_primary_transcript_splicing","termid":"PBO:0028895"}


id: PBO:0002786
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"acetyl-CoA hydrolase (predicted)","termid":"PBO:0002786"}


id: PBO:0045824
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"eukaryotic translation elongation factor 1 alpha 1 pseudogene 14","termid":"PBO:0045824"}


id: MONDO:0016640
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete fibrous dysplasia of bone (obsolete MONDO:0016640)","termid":"MONDO:0016640","xrefs":{"Monarch":{"xref_id":"0016640"}}}


id: PBO:0038810
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ADAM metallopeptidase domain 17","termid":"PBO:0038810"}


id: GO:1901978
data:
  {"annotated_genes":["SJAG_01837","SJAG_04259"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[114175],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1905326"},{"annotations":[117069],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0090267"}]},"cv_name":"biological_process","definition":"Any process that activates or increases the frequency, rate or extent of cell cycle checkpoint.","definition_xrefs":["PMID:23028116","GOC:TermGenie","GOC:mtg_cell_cycle"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of cell cycle checkpoint","termid":"GO:1901976"},{"relation_name":"is_a","term_name":"positive regulation of intracellular signal transduction","termid":"GO:1902533"},{"relation_name":"positively_regulates","term_name":"cell cycle checkpoint signaling","termid":"GO:0000075"}],"gene_count":2,"genes_by_uniquename":{"SJAG_01837":null,"SJAG_04259":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"positively_regulates","termid":"GO:0023052"},{"rel_name":"regulates","termid":"GO:0007049"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"regulates","termid":"GO:0023052"}],"interesting_parent_ids":["GO:0008150","GO:0023052","GO:0007049"],"is_obsolete":false,"name":"positive regulation of cell cycle checkpoint","references_by_uniquename":{"GO_REF:0000107":null},"secondary_identifiers":["GO:2001052"],"synonyms":[{"name":"activation of cell cycle checkpoint","type":"narrow"},{"name":"positive regulation of G1/S checkpoint","type":"related"},{"name":"positive regulation of G1/S transition checkpoint","type":"related"},{"name":"up regulation of cell cycle checkpoint","type":"exact"},{"name":"up-regulation of cell cycle checkpoint","type":"exact"},{"name":"upregulation of cell cycle checkpoint","type":"exact"}],"termid":"GO:1901978","terms_by_termid":{"GO:0090267":null,"GO:1905326":null}}


id: PBO:0090398
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"serine/threonine protein phosphatase PP2C catalytic subunit Ptc3","termid":"PBO:0090398"}


id: PBO:0002366
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"phenylalanine-tRNA ligase beta subunit Frs1 (predicted)","termid":"PBO:0002366"}


id: GO:0044706
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"A multicellular organism process which involves another multicellular organism of the same or different species.","definition_xrefs":["GOC:jl"],"direct_ancestors":[{"relation_name":"is_a","term_name":"multicellular organismal process","termid":"GO:0032501"}],"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":"multi-multicellular organism process","termid":"GO:0044706"}


id: MONDO:0001598
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A benign lesion that involves the salivary glands, usually the parotid gland. It affects females more often than males and it may be a manifestation of autoimmune diseases such as Sjogren syndrome. There is an increased incidence of benign lymphoepithelial lesions in HIV-positive patients. It is characterized by the presence of a marked lymphocytic infiltrate and epi-myoepithelial islands in the affected salivary gland. Patients usually present with firm and painless swelling of the affected salivary gland. There is an increased risk for development of lymphoma.","definition_xrefs":["NCIT:C3949"],"direct_ancestors":[{"relation_name":"is_a","term_name":"autoimmune disorder of exocrine system","termid":"MONDO:0000586"},{"relation_name":"is_a","term_name":"salivary gland disorder","termid":"MONDO:0001142"}],"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":"benign lymphoepithelial lesion of salivary gland","secondary_identifiers":["icd11.foundation:1330363110","UMLS:C0266995","MEDGEN:120595","SCTID:45517002","DOID:12899","ICD9:527.8"],"synonyms":[{"name":"Godwin tumor","type":"exact"},{"name":"Godwin tumour","type":"exact"},{"name":"benign lymphoepithelial lesion of salivary gland","type":"exact"},{"name":"benign lymphoepithelial lesion of the salivary gland","type":"related"},{"name":"benign salivary gland lymphoepithelial lesion","type":"related"}],"termid":"MONDO:0001598","xrefs":{"Monarch":{"xref_id":"0001598"}}}


id: FYPO:0003350
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 localization of a protein to the mitotic spindle midzone during anaphase B does not occur. The mitotic spindle midzone is the area in the center of the mitotic spindle where the spindle microtubules from opposite poles overlap. Anaphase B is the stage of mitosis in which the polar microtubules elongate and the two poles of the spindle move farther apart.","definition_xrefs":["GO:1990023","PomBase:mah","GO:0000092","GO:1902967"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abolished protein localization to mitotic spindle midzone during anaphase","termid":"FYPO:0004412"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000138"},{"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:0001985"}],"interesting_parent_ids":["FYPO:0000002","FYPO:0001985","FYPO:0001320","FYPO:0000138","FYPO:0005447"],"is_obsolete":false,"name":"abolished protein localization to mitotic spindle midzone during anaphase B","synonyms":[{"name":"abolished protein localization to spindle midzone during mitotic anaphase B","type":"exact"},{"name":"protein absent from mitotic spindle midzone during anaphase B","type":"related"},{"name":"protein localisation to mitotic spindle midzone abolished during anaphase B","type":"exact"},{"name":"protein localization to mitotic spindle midzone abolished during anaphase B","type":"exact"},{"name":"protein localization to spindle midzone abolished during anaphase B during vegetative growth","type":"exact"}],"termid":"FYPO:0003350"}


id: GO:0031821
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Binding to a metabotropic serotonin receptor.","definition_xrefs":["GOC:mah","GOC:nln"],"direct_ancestors":[{"relation_name":"is_a","term_name":"G protein-coupled receptor binding","termid":"GO:0001664"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0005515"},{"rel_name":"is_a","termid":"GO:0005488"}],"interesting_parent_ids":["GO:0005515","GO:0005488","GO:0003674"],"is_obsolete":false,"name":"G protein-coupled serotonin receptor binding","synonyms":[{"name":"G-protein coupled serotonin receptor binding","type":"exact"},{"name":"metabotropic 5-hydroxytryptamine receptor binding","type":"exact"},{"name":"metabotropic serotonin receptor binding","type":"exact"},{"name":"metabotropic serotonin receptor ligand","type":"narrow"}],"termid":"GO:0031821"}


id: PR:O94251
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- pop7 gene.","definition_xrefs":["PRO:DNx","UniProtKB:O94251"],"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":"ribonucleases P/MRP protein subunit POP7 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPBP8B7.01c","synonyms":[{"name":"RNA-processing protein POP7 (Schizosaccharomyces pombe 972h-)","type":"exact"},{"name":"Spom972h-pop7","type":"exact"}],"termid":"PR:O94251"}


id: PBO:0060477
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"NANOGNB pseudogene 2","termid":"PBO:0060477"}


id: MONDO:0030437
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"congenital disorder of glycosylation type II","termid":"MONDO:0005501"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005066"},{"rel_name":"is_a","termid":"MONDO:0024322"}],"interesting_parent_ids":["MONDO:0024322","MONDO:0005066"],"is_obsolete":false,"name":"congenital disorder of glycosylation, type IIw","secondary_identifiers":["OMIM:619525","MEDGEN:1794196","UMLS:C5561986"],"synonyms":[{"name":"CDG2W","type":"exact"}],"termid":"MONDO:0030437","xrefs":{"Monarch":{"xref_id":"0030437"}}}


id: MONDO:0100295
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":"Alzheimer disease, susceptibility to, mitochondrial","secondary_identifiers":["MEDGEN:325148","OMIM:502500","UMLS:C1838990"],"synonyms":[{"name":"Alzheimer disease, susceptibility to, mitochondrial","type":"exact"}],"termid":"MONDO:0100295","xrefs":{"Monarch":{"xref_id":"0100295"}}}


id: PBO:0029628
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-abnormal_meiotic_sister_chromatid_cohesion","termid":"PBO:0029628"}


id: GO:0140200
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. An adrenergic receptor signaling pathway that modulates the frequency or rate of heart contraction.","definition_xrefs":["GOC:BHF"],"gene_count":0,"genotype_count":0,"name":"obsolete adenylate cyclase-activating adrenergic receptor signaling pathway involved in regulation of heart rate (obsolete GO:0140200)","termid":"GO:0140200"}


id: PBO:0064501
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA polymerase II subunit D","termid":"PBO:0064501"}


id: PBO:0077912
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"TPT1 pseudogene 3","termid":"PBO:0077912"}


id: PBO:0002563
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"electron transfer flavoprotein alpha subunit (predicted)","termid":"PBO:0002563"}


id: PATO:0001655
data:
  {"annotation_feature_type":"gene","cv_name":"quality","definition":"A concentration quality inhering in a bearer by virtue of the bearer's amount of osmoles of solute per liter of solution.","definition_xrefs":["Wikipedia:http://en.wikipedia.org/wiki/Osmolarity"],"direct_ancestors":[{"relation_name":"is_a","term_name":"concentration of","termid":"PATO:0000033"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"osmolarity","termid":"PATO:0001655"}


id: PR:Q09823
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- rec10 gene.","definition_xrefs":["UniProtKB:Q09823","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":"meiotic recombination protein rec10 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAC25G10.04c","synonyms":[{"name":"Spom972h-rec10","type":"exact"}],"termid":"PR:Q09823"}


id: GO:0150051
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"The network of the Golgi apparatus structures located within the postsynapse.","definition_xrefs":["PMID:23838184","GOC:bc","GOC:aruk"],"direct_ancestors":[{"relation_name":"is_a","term_name":"Golgi apparatus","termid":"GO:0005794"},{"relation_name":"part_of","term_name":"postsynapse","termid":"GO:0098794"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005794"},{"rel_name":"part_of","termid":"GO:0005737"},{"rel_name":"is_a","termid":"GO:0005575"}],"interesting_parent_ids":["GO:0005794","GO:0005575","GO:0005737"],"is_obsolete":false,"name":"postsynaptic Golgi apparatus","synonyms":[{"name":"Golgi outpost","type":"related"}],"termid":"GO:0150051"}


id: FYPO:0006146
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cell phenotype in which the amount of RNA measured in a cell during a cellular response to copper ion starvation and during the meiotic cell cycle is normal (i.e. indistinguishable from wild type). Total RNA or a specific RNA, such as the mRNA transcribed from a gene of interest, may be affected.","definition_xrefs":["PomBase:mah","PMID:24569997"],"direct_ancestors":[{"relation_name":"is_a","term_name":"normal RNA level during meiotic cell cycle","termid":"FYPO:0006976"}],"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:0000002","FYPO:0000257"],"is_obsolete":false,"name":"normal RNA level during cellular response to copper ion starvation during meiotic cell cycle","synonyms":[{"name":"normal RNA accumulation during cellular response to copper ion starvation during meiotic cell cycle","type":"related"},{"name":"normal RNA level during meiotic cell cycle during copper starvation","type":"exact"},{"name":"normal cellular RNA level during cellular response to copper ion starvation during meiotic cell cycle","type":"exact"},{"name":"normal mRNA level during cellular response to copper ion starvation during meiotic cell cycle","type":"narrow"},{"name":"normal transcript level during cellular response to copper ion starvation during meiotic cell cycle","type":"exact"}],"termid":"FYPO:0006146"}


id: PBO:0031358
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_benomyl","termid":"PBO:0031358"}


id: PBO:0043236
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"chloride voltage-gated channel 7","termid":"PBO:0043236"}


id: GO:0101019
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"A ribonuclease complex that has 3-prime to 5-prime distributive hydrolytic exoribonuclease activity and in some taxa (e.g. yeast) endoribonuclease activity, producing 5-prime-phosphomonoesters. Participates in a multitude of cellular RNA processing and degradation events preventing nuclear export and/or translation of aberrant RNAs. Restricted to processing linear and circular single-stranded RNAs (ssRNA) only. RNAs with complex secondary structures may have to be unwound or pre-processed by co-factors prior to entering the complex, esp if the 3-prime end is structured.","definition_xrefs":["PMID:26726035","PMID:20531386","PMID:17174896"],"direct_ancestors":[{"relation_name":"is_a","term_name":"nuclear exosome (RNase complex)","termid":"GO:0000176"},{"relation_name":"part_of","term_name":"nucleolus","termid":"GO:0005730"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0032991"},{"rel_name":"part_of","termid":"GO:0005730"},{"rel_name":"is_a","termid":"GO:0005575"},{"rel_name":"part_of","termid":"GO:0005634"}],"interesting_parent_ids":["GO:0005634","GO:0032991","GO:0005575","GO:0005730"],"is_obsolete":false,"name":"nucleolar exosome (RNase complex)","termid":"GO:0101019"}


id: PBO:0015252
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ubiquitin-protein ligase E3/phosphatidylinositol(3)-phosphate binding protein (predicted)","termid":"PBO:0015252"}


id: PBO:0058701
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 6829","termid":"PBO:0058701"}


id: MOD:00926
data:
  {"annotation_feature_type":"gene","cv_name":"PSI-MOD","definition":"Modification from Unimod Non-standard residue. OBSOLETE because not an amino acid modification. From Unimod not an approved entry.","definition_xrefs":["PubMed:11225353","Unimod:493"],"gene_count":0,"genotype_count":0,"name":"OBSOLETE MOD:00926 Bisphenol A diglycidyl ether derivative (obsolete MOD:00926)","synonyms":[{"name":"BADGE","type":"related"},{"name":"Bisphenol A diglycidyl ether derivative","type":"related"}],"termid":"MOD:00926"}


id: PBO:0071346
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein L29 pseudogene 4","termid":"PBO:0071346"}


id: PR:O74372
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- duo1 gene.","definition_xrefs":["UniProtKB:O74372","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":"DASH complex subunit duo1 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPBC32F12.08c","synonyms":[{"name":"Spom972h-duo1","type":"exact"},{"name":"outer kinetochore protein duo1 (Schizosaccharomyces pombe 972h-)","type":"exact"}],"termid":"PR:O74372"}


id: PBO:0061346
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"nucleophosmin 1 pseudogene 4","termid":"PBO:0061346"}


id: MONDO:0957260
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":"combined low LDL and fibrinogen","secondary_identifiers":["MEDGEN:1841120","OMIM:620364","UMLS:C5830484"],"termid":"MONDO:0957260","xrefs":{"Monarch":{"xref_id":"0957260"}}}


id: PBO:0071942
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein S4X pseudogene 19","termid":"PBO:0071942"}


id: GO:0018408
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. The iodination of peptidyl-thyronine to form peptidyl-3',3'',5',5''-tetraiodo-L-thyronine (L-thyroxine).","definition_xrefs":["RESID:AA0178"],"gene_count":0,"genotype_count":0,"name":"obsolete peptidyl-thyronine iodination to form 3',3'',5',5''-tetraiodo-L-thyronine (obsolete GO:0018408)","termid":"GO:0018408"}


id: PBO:0040533
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"beta-1,3-N-acetylgalactosaminyltransferase 2 pseudogene 1","termid":"PBO:0040533"}


id: GO:0042386
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process in which a relatively unspecialized cell acquires the characteristics of a mature hemocyte. Hemocytes are blood cells associated with a hemocoel (the cavity containing most of the major organs of the arthropod body) which are involved in defense and clotting of hemolymph, but not involved in transport of oxygen.","definition_xrefs":["PMID:9550723","CL:0000387","GOC:jl","GOC:mtg_sensu"],"direct_ancestors":[{"relation_name":"is_a","term_name":"immune system process","termid":"GO:0002376"},{"relation_name":"is_a","term_name":"cell differentiation","termid":"GO:0030154"}],"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":"hemocyte differentiation","synonyms":[{"name":"arthropod blood cell differentiation","type":"exact"}],"termid":"GO:0042386"}


id: MONDO:0019760
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"amniotic band syndrome","termid":"MONDO:0015167"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005497"}],"interesting_parent_ids":["MONDO:0005497"],"is_obsolete":false,"name":"terminal transverse defects of arm","secondary_identifiers":["MEDGEN:341800","Orphanet:93937","UMLS:C1857578","MESH:C565681"],"synonyms":[{"name":"congenital limb amputation","type":"exact"}],"termid":"MONDO:0019760","xrefs":{"Monarch":{"xref_id":"0019760"}}}


id: PBO:0050079
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"high mobility group 20B","termid":"PBO:0050079"}


id: MONDO:0800328
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"retinitis pigmentosa","termid":"MONDO:0019200"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005066"},{"rel_name":"is_a","termid":"MONDO:0005328"},{"rel_name":"is_a","termid":"MONDO:0004736"}],"interesting_parent_ids":["MONDO:0005328","MONDO:0004736","MONDO:0005066"],"is_obsolete":false,"name":"retinitis pigmentosa 94, variable age at onset","secondary_identifiers":["UMLS:C5676889","MEDGEN:1805655"],"synonyms":[{"name":"RP94","type":"exact"}],"termid":"MONDO:0800328","xrefs":{"Monarch":{"xref_id":"0800328"}}}


id: SO:0001229
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"A modified RNA base in which the 5- position of the uracil is bound to the ribose ring instead of the 4- position.","definition_xrefs":["RSC:cb"],"direct_ancestors":[{"relation_name":"is_a","term_name":"modified_uridine","termid":"SO:0001277"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"pseudouridine","secondary_identifiers":["RNAMOD:050","http://en.wikipedia.org/wiki/Pseudouridine"],"synonyms":[{"name":" Y","type":"exact"}],"termid":"SO:0001229"}


id: MOD:01871
data:
  {"annotation_feature_type":"gene","cv_name":"PSI-MOD","definition":"A protein modification that effectively cyclizes an S-carboxamidomethyl-L-cysteine residue to (R)-5-oxo-1,4-tetrahydrothiazine-3-carboxylic acid with the loss of ammonia.","definition_xrefs":["PubMed:12643538","DeltaMass:336","Unimod:26"],"direct_ancestors":[{"relation_name":"derives_from","term_name":"S-carboxamidomethyl-L-cysteine","termid":"MOD:01060"},{"relation_name":"is_a","term_name":"iodoacetamide derivatized residue","termid":"MOD:00397"},{"relation_name":"is_a","term_name":"(R)-5-oxo-1,4-tetrahydrothiazine-3-carboxylic acid","termid":"MOD:00419"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MOD:00905"}],"interesting_parent_ids":["MOD:00905"],"is_obsolete":false,"name":"cyclized N-terminal S-carboxamidomethyl-L-cysteine","synonyms":[{"name":"(R)-5-oxoperhydro-1,4-thiazine-3-carboxylic acid","type":"exact"},{"name":"5-oxothiomorpholine-3-carboxylic acid","type":"exact"},{"name":"Otc","type":"exact"},{"name":"Pyro-carbamidomethyl","type":"related"},{"name":"S-carbamoylmethylcysteine cyclization (N-terminus)","type":"related"}],"termid":"MOD:01871"}


id: GO:0019505
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways involving resorcinol (C6H4(OH)2), a benzene derivative with many applications, including dyes, explosives, resins and as an antiseptic.","definition_xrefs":["GOC:jl","PMID:33145","PMID:7217008"],"direct_ancestors":[{"relation_name":"is_a","term_name":"phenol-containing compound metabolic process","termid":"GO:0018958"}],"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":"resorcinol metabolic process","secondary_identifiers":["MetaCyc:P343-PWY"],"synonyms":[{"name":"1,3-benzenediol metabolic process","type":"exact"},{"name":"1,3-benzenediol metabolism","type":"exact"},{"name":"1,3-dihydroxybenzene metabolic process","type":"exact"},{"name":"1,3-dihydroxybenzene metabolism","type":"exact"},{"name":"resorcinol metabolism","type":"exact"}],"termid":"GO:0019505"}


id: GO:1902870
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents or reduces the frequency, rate or extent of amacrine cell differentiation.","definition_xrefs":["GOC:TermGenie","PMID:16872597","GO_REF:0000058","GOC:mr"],"direct_ancestors":[{"relation_name":"is_a","term_name":"negative regulation of neuron differentiation","termid":"GO:0045665"},{"relation_name":"is_a","term_name":"regulation of amacrine cell differentiation","termid":"GO:1902869"},{"relation_name":"negatively_regulates","term_name":"amacrine cell differentiation","termid":"GO:0035881"}],"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 amacrine cell differentiation","synonyms":[{"name":"down regulation of amacrine cell differentiation","type":"exact"},{"name":"down regulation of amacrine neuron differentiation","type":"exact"},{"name":"down-regulation of amacrine cell differentiation","type":"exact"},{"name":"down-regulation of amacrine neuron differentiation","type":"exact"},{"name":"downregulation of amacrine cell differentiation","type":"exact"},{"name":"downregulation of amacrine neuron differentiation","type":"exact"},{"name":"inhibition of amacrine cell differentiation","type":"narrow"},{"name":"inhibition of amacrine neuron differentiation","type":"narrow"},{"name":"negative regulation of amacrine neuron differentiation","type":"exact"}],"termid":"GO:1902870"}


id: PBO:0085838
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Protein of unknown function; green fluorescent protein (GFP)-fusion protein localizes to the cytoplasm and nucleus; YBR197C is not an essential gene; relative distribution to the nucleus increases upon DNA replication stress; YBR197C has a paralog, YPL077C, that arose from the whole genome duplication","termid":"PBO:0085838"}


id: PBO:0040879
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"bone morphogenetic protein 4","termid":"PBO:0040879"}


id: PBO:0014280
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ERMES complex subunit Mdm12","termid":"PBO:0014280"}


id: GO:0071644
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents, or reduces the frequency, rate, or extent of production of chemokine (C-C motif) ligand 4.","definition_xrefs":["GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"negative regulation of chemokine production","termid":"GO:0032682"},{"relation_name":"is_a","term_name":"regulation of chemokine (C-C motif) ligand 4 production","termid":"GO:0071643"},{"relation_name":"negatively_regulates","term_name":"chemokine (C-C motif) ligand 4 production","termid":"GO:0071606"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"regulates","termid":"GO:0010467"},{"rel_name":"negatively_regulates","termid":"GO:0010467"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150","GO:0010467"],"is_obsolete":false,"name":"negative regulation of chemokine (C-C motif) ligand 4 production","synonyms":[{"name":"negative regulation of CCL4 production","type":"exact"},{"name":"negative regulation of MIP-1b production","type":"exact"},{"name":"negative regulation of macrophage inflammatory protein production","type":"broad"}],"termid":"GO:0071644"}


id: GO:0140920
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of thermomorphogenesis.","definition_xrefs":["PMID:27250752"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of post-embryonic development","termid":"GO:0048580"},{"relation_name":"is_a","term_name":"regulation of response to stimulus","termid":"GO:0048583"},{"relation_name":"regulates","term_name":"thermomorphogenesis","termid":"GO:0140919"}],"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 thermomorphogenesis","termid":"GO:0140920"}


id: GO:0035861
data:
  {"annotated_genes":["SJAG_02098","SJAG_02200","SJAG_01573","SJAG_01698","SJAG_01677","SJAG_02771","SJAG_03898","SJAG_05239","SJAG_01486","SJAG_00757","SJAG_04239","SJAG_03680","SJAG_04142","SJAG_01680","SJAG_05232","SJAG_02521","SJAG_00640","SJAG_01429","SJAG_03855","SJAG_00250","SJAG_05372","SJAG_02545","SJAG_01076","SJAG_05373","SJAG_02708","SJAG_05295","SJAG_02072","SJAG_02460","SJAG_05196","SJAG_00727","SJAG_05012","SJAG_03941","SJAG_01419","SJAG_01644","SJAG_03780","SJAG_01410","SJAG_04190","SJAG_03615","SJAG_04791","SJAG_04816","SJAG_01205","SJAG_01648","SJAG_02575","SJAG_04183","SJAG_02828","SJAG_01832","SJAG_03906","SJAG_00399","SJAG_03722","SJAG_01605","SJAG_01849","SJAG_02294","SJAG_03026","SJAG_02079","SJAG_03923","SJAG_01533","SJAG_02616","SJAG_01708","SJAG_02990","SJAG_03454"],"annotation_feature_type":"gene","cv_annotations":{"cellular_component":[{"annotations":[71530,72112,74659,75613,75633,77508,78336,79167,79772,88983,89516,89645,89948,90556,90640,91786,91893,93034,94021,94299,96365,96530,96871,97268,97473,97503,97775,99319,99410,99546,100945,100975,101007,101412,103181,103261,103319,103693,104417,104514,104583,104785,108030,108121,108165,109694,111204,111604,111893,111935,112111,112904,114671,116640,116905,117188,117595,117689,118109,119105],"is_not":false,"summary":null,"term":"GO:0035861"}]},"cv_name":"cellular_component","definition":"A region of a chromosome at which a DNA double-strand break has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix.","definition_xrefs":["GOC:bf","GOC:vw","PMID:20096808","GOC:mah","PMID:21035408"],"direct_ancestors":[{"relation_name":"is_a","term_name":"site of DNA damage","termid":"GO:0090734"}],"gene_count":60,"genes_by_uniquename":{"SJAG_00250":null,"SJAG_00399":null,"SJAG_00640":null,"SJAG_00727":null,"SJAG_00757":null,"SJAG_01076":null,"SJAG_01205":null,"SJAG_01410":null,"SJAG_01419":null,"SJAG_01429":null,"SJAG_01486":null,"SJAG_01533":null,"SJAG_01573":null,"SJAG_01605":null,"SJAG_01644":null,"SJAG_01648":null,"SJAG_01677":null,"SJAG_01680":null,"SJAG_01698":null,"SJAG_01708":null,"SJAG_01832":null,"SJAG_01849":null,"SJAG_02072":null,"SJAG_02079":null,"SJAG_02098":null,"SJAG_02200":null,"SJAG_02294":null,"SJAG_02460":null,"SJAG_02521":null,"SJAG_02545":null,"SJAG_02575":null,"SJAG_02616":null,"SJAG_02708":null,"SJAG_02771":null,"SJAG_02828":null,"SJAG_02990":null,"SJAG_03026":null,"SJAG_03454":null,"SJAG_03615":null,"SJAG_03680":null,"SJAG_03722":null,"SJAG_03780":null,"SJAG_03855":null,"SJAG_03898":null,"SJAG_03906":null,"SJAG_03923":null,"SJAG_03941":null,"SJAG_04142":null,"SJAG_04183":null,"SJAG_04190":null,"SJAG_04239":null,"SJAG_04791":null,"SJAG_04816":null,"SJAG_05012":null,"SJAG_05196":null,"SJAG_05232":null,"SJAG_05239":null,"SJAG_05295":null,"SJAG_05372":null,"SJAG_05373":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"part_of","termid":"GO:0005694"},{"rel_name":"is_a","termid":"GO:0005575"}],"interesting_parent_ids":["GO:0005694","GO:0005575"],"is_obsolete":false,"name":"site of double-strand break","references_by_uniquename":{"GO_REF:0000033":null,"GO_REF:0000107":null},"synonyms":[{"name":"DNA damage foci","type":"related"},{"name":"DNA damage focus","type":"related"},{"name":"IRIF","type":"related"},{"name":"ionizing radiation-induced foci","type":"related"},{"name":"site of DSB","type":"exact"}],"termid":"GO:0035861","terms_by_termid":{"GO:0035861":null}}


id: PBO:0030345
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-decreased_protein_level_during_cellular_response_to_hypoxia","termid":"PBO:0030345"}


id: PBO:0050875
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"IDH3B divergent transcript","termid":"PBO:0050875"}


id: MONDO:0007502
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":"ear pits, posterior helical","secondary_identifiers":["OMIM:128710","UMLS:C1851900","MEDGEN:342119"],"synonyms":[{"name":"ear pits, posterior helical","type":"exact"},{"name":"earlobe Indentations, posterior","type":"related"},{"name":"posterior helical Ear pits","type":"related"}],"termid":"MONDO:0007502","xrefs":{"Monarch":{"xref_id":"0007502"}}}


id: PR:P15258
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- ral2 gene.","definition_xrefs":["UniProtKB:P15258","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 ral2 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPBC21.05c","synonyms":[{"name":"Spom972h-ral2","type":"exact"}],"termid":"PR:P15258"}


id: PBO:0030359
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-normal_RNA_level_during_cellular_response_to_hypoxia","termid":"PBO:0030359"}


id: GO:0046849
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The continuous turnover of bone matrix and mineral that involves first, an increase in resorption (osteoclastic activity) and later, reactive bone formation (osteoblastic activity). The process of bone remodeling takes place in the adult skeleton at discrete foci. The process ensures the mechanical integrity of the skeleton throughout life and plays an important role in calcium homeostasis. An imbalance in the regulation of bone resorption and bone formation results in many of the metabolic bone diseases, such as osteoporosis.","definition_xrefs":["GOC:curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"tissue remodeling","termid":"GO:0048771"}],"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":"bone remodeling","secondary_identifiers":["Wikipedia:Bone_remodeling"],"synonyms":[{"name":"bone remodelling","type":"exact"}],"termid":"GO:0046849"}


id: PATO:0000551
data:
  {"annotation_feature_type":"gene","cv_name":"quality","gene_count":0,"genotype_count":0,"name":"OBSOLETE PATO:0000551 u v light sensitivity value (obsolete PATO:0000551)","termid":"PATO:0000551"}


id: GO:0046544
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process whose specific outcome is the progression of the secondary male sexual characteristics over time, from their formation to the mature structures. In male humans, these include growth of axillary, chest, and pubic hair, voice changes, and testicular/penile enlargement. Development occurs in response to sex hormone secretion.","definition_xrefs":["GOC:ai"],"direct_ancestors":[{"relation_name":"is_a","term_name":"development of secondary sexual characteristics","termid":"GO:0045136"},{"relation_name":"part_of","term_name":"male sex differentiation","termid":"GO:0046661"}],"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":"development of secondary male sexual characteristics","termid":"GO:0046544"}


id: PBO:0026724
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-decreased_level_of_histone_H2A_in_cell","termid":"PBO:0026724"}


id: PBO:0044750
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"DEAD-box helicase 31","termid":"PBO:0044750"}


id: GO:0051051
data:
  {"annotated_genes":["SJAG_03631","SJAG_00296","SJAG_01311","SJAG_03581","SJAG_03970"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[91575,113751],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1905949"},{"annotations":[94941],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0045806"},{"annotations":[88440],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0042997"},{"annotations":[88441],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1905533"},{"annotations":[106186],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0042308"},{"annotations":[88442],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1905530"}]},"cv_name":"biological_process","definition":"Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of substances (such as macromolecules, small molecules, ions) 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":"negative regulation of biological process","termid":"GO:0048519"},{"relation_name":"is_a","term_name":"regulation of transport","termid":"GO:0051049"},{"relation_name":"negatively_regulates","term_name":"transport","termid":"GO:0006810"}],"gene_count":5,"genes_by_uniquename":{"SJAG_00296":null,"SJAG_01311":null,"SJAG_03581":null,"SJAG_03631":null,"SJAG_03970":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"regulates","termid":"GO:0006810"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"negatively_regulates","termid":"GO:0006810"}],"interesting_parent_ids":["GO:0008150","GO:0006810"],"is_obsolete":false,"name":"negative regulation of transport","references_by_uniquename":{"GO_REF:0000107":null},"synonyms":[{"name":"down regulation of transport","type":"exact"},{"name":"down-regulation of transport","type":"exact"},{"name":"downregulation of transport","type":"exact"},{"name":"inhibition of transport","type":"narrow"}],"termid":"GO:0051051","terms_by_termid":{"GO:0042308":null,"GO:0042997":null,"GO:0045806":null,"GO:1905530":null,"GO:1905533":null,"GO:1905949":null}}


id: MONDO:0009386
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"reading disorder","termid":"MONDO:0001697"},{"relation_name":"is_a","term_name":"hereditary neurological disease","termid":"MONDO:0100545"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"hyperlexia","secondary_identifiers":["MEDGEN:341011","MESH:C565500","OMIM:238350","UMLS:C1855928"],"synonyms":[{"name":"compulsive reading","type":"related"},{"name":"hyperlexia","type":"exact"},{"name":"precocious reading","type":"related"}],"termid":"MONDO:0009386","xrefs":{"Monarch":{"xref_id":"0009386"}}}


id: PBO:0057383
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 548ay","termid":"PBO:0057383"}


id: GO:0030403
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"OBSOLETE. Was not defined before being made obsolete.","definition_xrefs":["GOC:mah"],"gene_count":0,"genotype_count":0,"name":"obsolete collagenase 4 activity (obsolete GO:0030403)","synonyms":[{"name":"MMP-18","type":"narrow"},{"name":"collagenase 4 activity","type":"exact"},{"name":"matrix metalloproteinase 18","type":"exact"}],"termid":"GO:0030403"}


id: GO:0018063
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The linkage of cytochromes and other heme proteins to heme.","definition_xrefs":["RESID:AA0134","RESID:AA0135"],"direct_ancestors":[{"relation_name":"is_a","term_name":"protein-heme linkage","termid":"GO:0017003"},{"relation_name":"is_a","term_name":"cytochrome complex assembly","termid":"GO:0017004"}],"gene_count":0,"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":"cytochrome c-heme linkage","synonyms":[{"name":"cytochrome c-haem linkage","type":"exact"}],"termid":"GO:0018063"}


id: GO:0097087
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The appearance of interleukin-17A due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels.","definition_xrefs":["GOC:rv","PMID:27901018"],"direct_ancestors":[{"relation_name":"is_a","term_name":"interleukin-17 production","termid":"GO:0032620"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0010467"}],"interesting_parent_ids":["GO:0008150","GO:0010467"],"is_obsolete":false,"name":"interleukin-17A production","secondary_identifiers":["GO:0150154"],"synonyms":[{"name":"IL-17A production","type":"exact"},{"name":"interleukin-17A biosynthetic process","type":"narrow"}],"termid":"GO:0097087"}


id: PBO:0000546
data:
  {"annotation_feature_type":"gene","cv_name":"gene_ex","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"transcriptionally regulated by Mei4","termid":"PBO:0000546"}


id: GO:0005132
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Binding to an interferon-type I receptor, a heterodimeric complex composed of an alpha subunit (IFNAR1) and a beta subunit (IFNAR2).","definition_xrefs":["GOC:ai","GOC:signaling","PMID:17502368"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cytokine receptor binding","termid":"GO:0005126"},{"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:0005515"},{"rel_name":"is_a","termid":"GO:0005488"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0005515","GO:0003674","GO:0005488"],"is_obsolete":false,"name":"type I interferon receptor binding","synonyms":[{"name":"IFNAR binding","type":"related"},{"name":"IFNAR1 binding","type":"narrow"},{"name":"IFNAR2 binding","type":"narrow"},{"name":"interferon-alpha/beta","type":"narrow"},{"name":"interferon-alpha/beta receptor binding","type":"exact"},{"name":"interferon-alpha/beta receptor ligand","type":"narrow"}],"termid":"GO:0005132"}


id: GO:1900593
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the formation of violaceol II.","definition_xrefs":["GOC:di","GOC:TermGenie"],"direct_ancestors":[{"relation_name":"is_a","term_name":"catechol-containing compound biosynthetic process","termid":"GO:0009713"},{"relation_name":"is_a","term_name":"secondary metabolite biosynthetic process","termid":"GO:0044550"},{"relation_name":"is_a","term_name":"violaceol II metabolic process","termid":"GO:1900591"},{"relation_name":"is_a","term_name":"ether biosynthetic process","termid":"GO:1901503"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0019748"},{"rel_name":"is_a","termid":"GO:0044281"}],"interesting_parent_ids":["GO:0019748","GO:0044281","GO:0008150"],"is_obsolete":false,"name":"violaceol II biosynthetic process","synonyms":[{"name":"violaceol II anabolism","type":"exact"},{"name":"violaceol II biosynthesis","type":"exact"},{"name":"violaceol II formation","type":"exact"},{"name":"violaceol II synthesis","type":"exact"}],"termid":"GO:1900593"}


id: PBO:0057115
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"MIR200C and MIR141 host gene","termid":"PBO:0057115"}


id: PR:Q9Y7Y0
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- der1 gene.","definition_xrefs":["UniProtKB:Q9Y7Y0","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":"uncharacterized derlin-like protein C365.08c (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPBC365.08c","synonyms":[{"name":"Spom972h-der1","type":"exact"}],"termid":"PR:Q9Y7Y0"}


id: GO:0001632
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Combining with leukotriene B4, LTB4, to initiate a change in cell activity. Leukotriene B4 is also known as (6Z, 8E, 10E, 14Z)-(5S, 12R)-5,12-dihydroxyicosa-6,8,10,14-tetraen-1-oate.","definition_xrefs":["GOC:ai","ISBN:0198506732"],"direct_ancestors":[{"relation_name":"is_a","term_name":"leukotriene receptor activity","termid":"GO:0004974"}],"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":"leukotriene B4 receptor activity","synonyms":[{"name":"BLT receptor","type":"narrow"}],"termid":"GO:0001632"}


id: GO:0033515
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the breakdown of L-lysine into other compounds, including alpha-aminoadipate; in this pathway, L-lysine is converted to 2-aminoadipate-6-semialdehyde by lysine 6-aminotransferase.","definition_xrefs":["GOC:mah","MetaCyc:PWY-5298"],"direct_ancestors":[{"relation_name":"is_a","term_name":"L-lysine catabolic process to acetyl-CoA","termid":"GO:0019474"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0055086"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0006790"},{"rel_name":"is_a","termid":"GO:0006520"},{"rel_name":"is_a","termid":"GO:0044281"}],"interesting_parent_ids":["GO:0006790","GO:0044281","GO:0006520","GO:0055086","GO:0008150"],"is_obsolete":false,"name":"L-lysine catabolic process using lysine 6-aminotransferase","synonyms":[{"name":"L-lysine breakdown using lysine 6-aminotransferase","type":"exact"},{"name":"L-lysine degradation using lysine 6-aminotransferase","type":"exact"}],"termid":"GO:0033515"}


id: PBO:0041150
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"basic transcription factor 3 pseudogene 5","termid":"PBO:0041150"}


id: GO:0070597
data:
  {"annotated_genes":["SJAG_04666","SJAG_04236","SJAG_00424","SJAG_00610","SJAG_01028","SJAG_04184","SJAG_02916","SJAG_03057","SJAG_02278"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[71030,73779,73961,71852,79021],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0070600"},{"annotations":[103212,89795,95305,92787],"is_not":false,"rel_names":["regulates"],"summary":null,"term":"GO:0070610"}]},"cv_name":"biological_process","definition":"The chemical reactions and pathways involving (1->3)-alpha-D-glucans, compounds composed of glucose residues linked by (1->3)-alpha-D-glucosidic bonds, found in the walls of cells.","definition_xrefs":["GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cell wall polysaccharide metabolic process","termid":"GO:0010383"},{"relation_name":"is_a","term_name":"(1->3)-alpha-glucan metabolic process","termid":"GO:0070595"}],"gene_count":9,"genes_by_uniquename":{"SJAG_00424":null,"SJAG_00610":null,"SJAG_01028":null,"SJAG_02278":null,"SJAG_02916":null,"SJAG_03057":null,"SJAG_04184":null,"SJAG_04236":null,"SJAG_04666":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"part_of","termid":"GO:0071554"},{"rel_name":"is_a","termid":"GO:0005975"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0071554","GO:0005975","GO:0008150"],"is_obsolete":false,"name":"cell wall (1->3)-alpha-glucan metabolic process","references_by_uniquename":{"GO_REF:0000033":null,"GO_REF:0000107":null},"synonyms":[{"name":"cell wall 1,3-alpha-glucan metabolic process","type":"exact"},{"name":"cell wall 1,3-alpha-glucan metabolism","type":"exact"},{"name":"cell wall alpha-1,3 glucan metabolic process","type":"exact"},{"name":"cell wall alpha-1,3 glucan metabolism","type":"exact"}],"termid":"GO:0070597","terms_by_termid":{"GO:0070600":null,"GO:0070610":null}}


id: MONDO:0018064
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.","definition_xrefs":["Orphanet:3365"],"direct_ancestors":[{"relation_name":"is_a","term_name":"syndromic craniosynostosis","termid":"MONDO:0015338"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005497"}],"interesting_parent_ids":["MONDO:0005497"],"is_obsolete":false,"name":"trigonocephaly-broad thumbs syndrome","secondary_identifiers":["GARD:2756","SCTID:719949001","MEDGEN:930637","UMLS:C4304968"],"synonyms":[{"name":"Hunter Rudd Hoffmann syndrome","type":"related"},{"name":"Hunter-Rudd-Hoffmann syndrome","type":"exact"}],"termid":"MONDO:0018064","xrefs":{"Monarch":{"xref_id":"0018064"}}}


id: PBO:0064694
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"peptidylprolyl isomerase A pseudogene 30","termid":"PBO:0064694"}


id: PBO:0001385
data:
  {"annotation_feature_type":"gene","cv_name":"misc","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"stress response pathway signalling (SRP), mediated phosphorylation of Ser402 ensures efficient reinitiation of tip growth and cell division during recovery from particular stress","termid":"PBO:0001385"}


id: GO:2000892
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the breakdown of a cellobiose.","definition_xrefs":["GOC:mengo_curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"disaccharide catabolic process","termid":"GO:0046352"},{"relation_name":"is_a","term_name":"cellobiose metabolic process","termid":"GO:2000891"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0005975"}],"interesting_parent_ids":["GO:0008150","GO:0005975"],"is_obsolete":false,"name":"cellobiose catabolic process","synonyms":[{"name":"cellobiose catabolism","type":"exact"}],"termid":"GO:2000892"}


id: MONDO:0005384
data:
  {"annotated_genes":["SJAG_00824","SJAG_02765","SJAG_01184"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[85733],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0024556"},{"annotations":[87498],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0014924"},{"annotations":[87497],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0014925"}]},"cv_name":"mondo","definition":"A seizure caused by a localized disorder.","definition_xrefs":["NCIT:P378"],"direct_ancestors":[{"relation_name":"is_a","term_name":"epilepsy","termid":"MONDO:0005027"}],"gene_count":3,"genes_by_uniquename":{"SJAG_00824":null,"SJAG_01184":null,"SJAG_02765":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005027"}],"interesting_parent_ids":["MONDO:0005027"],"is_obsolete":false,"name":"focal epilepsy","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["UMLS:C0014547","MESH:D004828","EFO:0004263","MEDGEN:41836","SCTID:230381009","NCIT:C122812","DOID:2234","ICD9:345.50"],"synonyms":[{"name":"focal epilepsy","type":"exact"},{"name":"partial epilepsy","type":"exact"},{"name":"localisation-related epilepsy","type":"exact"}],"termid":"MONDO:0005384","terms_by_termid":{"MONDO:0014924":null,"MONDO:0014925":null,"MONDO:0024556":null},"xrefs":{"Monarch":{"xref_id":"0005384"}}}


id: PR:Q10284
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- sks2 gene.","definition_xrefs":["UniProtKB:Q10284","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":"heat shock protein sks2 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPBC1709.05","synonyms":[{"name":"Spom972h-sks2","type":"exact"},{"name":"heat shock cognate protein hsc1 (Schizosaccharomyces pombe 972h-)","type":"exact"}],"termid":"PR:Q10284"}


id: PBO:0003541
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"GTP binding protein Nog1 (predicted)","termid":"PBO:0003541"}


id: MONDO:0007473
data:
  {"annotated_genes":["SJAG_01114","SJAG_02278","SJAG_04765","SJAG_04522"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[85734,85736,85735,85737],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0011444"}]},"cv_name":"mondo","definition":"Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia.","definition_xrefs":["Orphanet:233"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"strabismus","termid":"MONDO:0003432"},{"relation_name":"excluded_subClassOf","term_name":"obsolete neuro-ophthalmological disease (obsolete MONDO:0015368)","termid":"MONDO:0015368"},{"relation_name":"is_a","term_name":"syndromic disease","termid":"MONDO:0002254"},{"relation_name":"is_a","term_name":"nuclear oculomotor paralysis","termid":"MONDO:0015083"},{"relation_name":"is_a","term_name":"hereditary neurological disease","termid":"MONDO:0100545"}],"gene_count":4,"genes_by_uniquename":{"SJAG_01114":null,"SJAG_02278":null,"SJAG_04522":null,"SJAG_04765":null},"genotype_count":0,"is_obsolete":false,"name":"Duane retraction syndrome","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["OMIMPS:126800","SCTID:60318001","ICD9:378.71","GARD:6288","MESH:D004370","MEDGEN:4413","DOID:12557","NCIT:C84678","UMLS:C0013261","MedDRA:10013799"],"synonyms":[{"name":"DRS","type":"exact"},{"name":"DURS","type":"exact"},{"name":"Duane anomaly","type":"related"},{"name":"Duane retraction syndrome","type":"exact"},{"name":"Duane syndrome","type":"exact"},{"name":"Duane's syndrome","type":"exact"},{"name":"Stilling-Turk-Duane syndrome","type":"exact"},{"name":"retraction syndrome","type":"related"}],"termid":"MONDO:0007473","terms_by_termid":{"MONDO:0011444":null},"xrefs":{"Monarch":{"xref_id":"0007473"}}}


id: PBO:0041532
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"chromosome 16 open reading frame 96","termid":"PBO:0041532"}


id: MONDO:0007988
data:
  {"annotated_genes":["SJAG_05245"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[85886],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0054593"}]},"cv_name":"mondo","definition":"Autosomal dominant form of microcephaly (disease).","definition_xrefs":["MONDO:patterns/autosomal_dominant"],"direct_ancestors":[{"relation_name":"is_a","term_name":"autosomal dominant disease","termid":"MONDO:0000426"},{"relation_name":"is_a","term_name":"congenital nervous system disorder","termid":"MONDO:0002320"},{"relation_name":"is_a","term_name":"multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome","termid":"MONDO:0015160"},{"relation_name":"is_a","term_name":"isolated congenital microcephaly","termid":"MONDO:0016056"},{"relation_name":"is_a","term_name":"Mendelian neurodevelopmental disorder","termid":"MONDO:0100500"}],"gene_count":1,"genes_by_uniquename":{"SJAG_05245":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0002320"},{"rel_name":"is_a","termid":"MONDO:0000426"},{"rel_name":"is_a","termid":"MONDO:0700092"}],"interesting_parent_ids":["MONDO:0002320","MONDO:0000426","MONDO:0700092"],"is_obsolete":false,"name":"autosomal dominant primary microcephaly","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["icd11.foundation:774437947","MESH:C537323","UMLS:C0220693","OMIM:156580","MEDGEN:66319","Orphanet:2514","GARD:3605","DOID:14725"],"synonyms":[{"name":"autosomal dominant microcephaly","type":"related"},{"name":"autosomal dominant primary microcephaly","type":"exact"},{"name":"microcephaly (disease), autosomal dominant","type":"exact"},{"name":"microcephaly autosomal dominant","type":"related"},{"name":"microcephaly with autosomal dominant inheritance","type":"related"},{"name":"microcephaly, autosomal dominant","type":"related"}],"termid":"MONDO:0007988","terms_by_termid":{"MONDO:0054593":null},"xrefs":{"Monarch":{"xref_id":"0007988"}}}


