# terms

id: GO:0043877
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: D-galactosamine 6-phosphate + H2O = D-tagatose 6-phosphate + NH3.","definition_xrefs":["PMID:10931310"],"direct_ancestors":[{"relation_name":"is_a","term_name":"intramolecular oxidoreductase activity, interconverting aldoses and ketoses","termid":"GO:0016861"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0016853"}],"interesting_parent_ids":["GO:0003674","GO:0016853","GO:0003824"],"is_obsolete":false,"name":"galactosamine-6-phosphate isomerase activity","synonyms":[{"name":"AgaI","type":"related"},{"name":"galactosamine-6-phosphate deaminase activity","type":"exact"}],"termid":"GO:0043877"}


id: PBO:0082120
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Acetyltransferase; catalyzes trichothecene 3-O-acetylation, suggesting a possible role in trichothecene biosynthesis","termid":"PBO:0082120"}


id: GO:0018266
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. The chemical reactions and pathways resulting in the formation of a C-terminal peptidyl-aspartic acid ethanolamide-linked glycosylphosphatidylinositol (GPI) anchor following hydrolysis of a aspartyl-peptide bond in the carboxy-terminal region of a membrane-associated protein.","definition_xrefs":["RESID:AA0159"],"gene_count":0,"genotype_count":0,"name":"obsolete GPI anchor biosynthetic process via N-aspartyl-glycosylphosphatidylinositolethanolamine (obsolete GO:0018266)","termid":"GO:0018266"}


id: PBO:0108581
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"armadillo repeat protein, human ATXN10 ortholog","termid":"PBO:0108581"}


id: PBO:0041036
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"BRAF pseudogene 1","termid":"PBO:0041036"}


id: GO:0044733
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"A process in which an organism alters or subverts the activity of a pH-gated (also known as acid-sensing ion channel (ASIC)) in another organism via the action of a venom.","definition_xrefs":["GOC:jl","GOC:fj","PMID:23034652"],"direct_ancestors":[{"relation_name":"is_a","term_name":"venom-mediated perturbation of ion channel activity","termid":"GO:0044560"}],"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":"venom-mediated perturbation of pH-gated ion channel activity","synonyms":[{"name":"envenomation resulting in modulation of ASIC channel activity in other organism","type":"exact"},{"name":"envenomation resulting in modulation of acid-sensing ion channel activity in another organism","type":"exact"},{"name":"envenomation resulting in modulation of acid-sensing ion channel activity in other organism","type":"exact"},{"name":"venom-mediated perturbation of acid-sensing ion channel activity","type":"exact"}],"termid":"GO:0044733"}


id: MONDO:0000430
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"This type of lymphoma is not frequently seen in the western hemisphere. Clinically, with the exception of anaplastic large cell lymphoma, mature T- and NK-cell lymphomas are among the most aggressive of all hematopoietic neoplasms. Representative disease entities include mycosis fungoides, angioimmunoblastic T-cell lymphoma, hepatosplenic T-cell lymphoma, and anaplastic large cell lymphoma.","definition_xrefs":["NCIT:C3468"],"direct_ancestors":[{"relation_name":"is_a","term_name":"neoplasm of mature T-cells or NK-cells","termid":"MONDO:0005169"},{"relation_name":"is_a","term_name":"T-cell non-Hodgkin lymphoma","termid":"MONDO:0015760"}],"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":"mature T-cell and NK-cell non-Hodgkin lymphoma","secondary_identifiers":["DOID:0050743","DOID:0050749","SCTID:109977009","UMLS:C5551485","MEDGEN:1790498","ICD10CM:C84.4","MESH:D016411","GARD:7368","ICDO:9702/3"],"synonyms":[{"name":"NK-T cell lymphoma","type":"related"},{"name":"PTCL","type":"exact"},{"name":"mature T-and NK-cell lymphoma","type":"exact"},{"name":"mature T-cell and NK-cell lymphoma","type":"exact"},{"name":"mature T-cell and NK-cell non-Hodgkin lymphoma","type":"exact"},{"name":"mature T-cell and NK-cell non-Hodgkin's lymphoma","type":"exact"},{"name":"mature T-cell and natural killer cell lymphoma","type":"related"},{"name":"mature T-cell lymphoma","type":"exact"},{"name":"mature T-cell non-Hodgkin's lymphoma","type":"exact"},{"name":"peripheral T-cell lymphoma","type":"exact"}],"termid":"MONDO:0000430","xrefs":{"Monarch":{"xref_id":"0000430"}}}


id: GO:0103097
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"OBSOLETE. Catalysis of the reaction: trihomomethionine + 2 O2 + 2 NADPH + 2 H+ = 3 H2O + carbon dioxide + 2 NADP + 6-methylthiohexanaldoxime.","definition_xrefs":["GOC:pz"],"gene_count":0,"genotype_count":0,"name":"obsolete CYP79F1 trihomomethionine monooxygenase activity (obsolete GO:0103097)","termid":"GO:0103097"}


id: MONDO:0021230
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A neoplasm (disease) that involves the uterine cervix.","definition_xrefs":["MONDO:patterns/location"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cervix disorder","termid":"MONDO:0002256"},{"relation_name":"is_a","term_name":"tumor of uterus","termid":"MONDO:0021353"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"uterine cervix neoplasm","secondary_identifiers":["NCIT:C2940","UMLS:C0007873","MEDGEN:40201","ONCOTREE:CERVIX"],"synonyms":[{"name":"Cervical neoplasm","type":"exact"},{"name":"cervical tumor","type":"exact"},{"name":"cervical tumour","type":"exact"},{"name":"cervix","type":"related"},{"name":"cervix neoplasm","type":"exact"},{"name":"cervix tumor","type":"exact"},{"name":"cervix tumour","type":"exact"},{"name":"cervix uteri neoplasm","type":"exact"},{"name":"cervix uteri tumor","type":"exact"},{"name":"cervix uteri tumour","type":"exact"},{"name":"neoplasm of cervix","type":"exact"},{"name":"neoplasm of cervix uteri","type":"exact"},{"name":"neoplasm of the cervix","type":"exact"},{"name":"neoplasm of the cervix uteri","type":"exact"},{"name":"neoplasm of the uterine cervix","type":"exact"},{"name":"neoplasm of uterine cervix","type":"exact"},{"name":"tumor of cervix","type":"exact"},{"name":"tumor of cervix uteri","type":"exact"},{"name":"tumor of the cervix","type":"exact"},{"name":"tumor of the cervix uteri","type":"exact"},{"name":"tumor of the uterine cervix","type":"exact"},{"name":"tumor of uterine cervix","type":"exact"},{"name":"tumour of cervix","type":"exact"},{"name":"tumour of cervix uteri","type":"exact"},{"name":"tumour of the cervix","type":"exact"},{"name":"tumour of the cervix uteri","type":"exact"},{"name":"tumour of the uterine cervix","type":"exact"},{"name":"tumour of uterine cervix","type":"exact"},{"name":"uterine cervix neoplasm (disease)","type":"exact"},{"name":"uterine cervix tumor","type":"exact"},{"name":"uterine cervix tumour","type":"exact"}],"termid":"MONDO:0021230","xrefs":{"Monarch":{"xref_id":"0021230"}}}


id: GO:0010916
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that decreases the rate, frequency or extent of very-low-density lipoprotein particle clearance. Very-low-density lipoprotein particle clearance is the process in which a very-low-density lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded.","definition_xrefs":["GOC:BHF","GOC:dph","GOC:tb"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of very-low-density lipoprotein particle clearance","termid":"GO:0010915"},{"relation_name":"is_a","term_name":"negative regulation of lipoprotein particle clearance","termid":"GO:0010985"},{"relation_name":"negatively_regulates","term_name":"very-low-density lipoprotein particle clearance","termid":"GO:0034447"}],"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 very-low-density lipoprotein particle clearance","synonyms":[{"name":"negative regulation of VLDL clearance","type":"exact"},{"name":"negative regulation of VLDL particle clearance","type":"exact"}],"termid":"GO:0010916"}


id: GO:0034523
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"OBSOLETE. Catalysis of the reaction: 3-formylsalicylic acid + O2 + H2O = 2-hydroxyisophthalic acid + hydrogen peroxide.","definition_xrefs":["GOC:curators"],"gene_count":0,"genotype_count":0,"name":"obsolete 3-formylsalicylate oxidase activity (obsolete GO:0034523)","termid":"GO:0034523"}


id: MONDO:0009695
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"myeloproliferative neoplasm","termid":"MONDO:0020076"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005570"},{"rel_name":"is_a","termid":"MONDO:0005046"},{"rel_name":"is_a","termid":"MONDO:0004992"}],"interesting_parent_ids":["MONDO:0005570","MONDO:0005046","MONDO:0004992"],"is_obsolete":false,"name":"myeloproliferative disease, autosomal recessive","secondary_identifiers":["UMLS:C1850779","MEDGEN:338119","MESH:C564977","OMIM:254700"],"synonyms":[{"name":"myeloproliferative disease, autosomal recessive","type":"exact"}],"termid":"MONDO:0009695","xrefs":{"Monarch":{"xref_id":"0009695"}}}


id: GO:0014738
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of muscle hyperplasia.","definition_xrefs":["GOC:mtg_muscle"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of muscle adaptation","termid":"GO:0043502"},{"relation_name":"regulates","term_name":"muscle hyperplasia","termid":"GO:0014900"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"regulation of muscle hyperplasia","termid":"GO:0014738"}


id: MOD:01857
data:
  {"annotation_feature_type":"gene","cv_name":"PSI-MOD","definition":"A protein modification that effectively cross-links an L-cysteine residue and an L-methionine residue by a thioether bond to form 2-(L-cystein-S-yl)-methionine.","definition_xrefs":["PubMed:20805502","RESID:AA0559"],"direct_ancestors":[{"relation_name":"is_a","term_name":"alpha-carbon thioether crosslinked residues","termid":"MOD:01992"},{"relation_name":"is_a","term_name":"crosslinked L-cysteine residue","termid":"MOD:02044"},{"relation_name":"is_a","term_name":"crosslinked L-methionine residue","termid":"MOD:02052"}],"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":"2-(L-cystein-S-yl)-methionine","synonyms":[{"name":"(2R)-2-amino-2-([2-amino-2-carboxyethyl]sulfanyl)-4-(methylsulfanyl)butanoic acid","type":"exact"},{"name":"2-(L-cystein-S-yl)-methionine","type":"exact"},{"name":"CROSSLNK 2-(S-cysteinyl)-methionine (Cys-Met)","type":"exact"}],"termid":"MOD:01857"}


id: PBO:0002156
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase family or domain","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"fork head domain","termid":"PBO:0002156"}


id: GO:0019610
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the breakdown of 3-hydroxyphenylacetate, 1,3-benzenediol monoacetate, also known as resorcinol monoacetate.","definition_xrefs":["PMID:6995433"],"direct_ancestors":[{"relation_name":"is_a","term_name":"phenol-containing compound catabolic process","termid":"GO:0019336"},{"relation_name":"is_a","term_name":"3-hydroxyphenylacetate metabolic process","termid":"GO:0019609"},{"relation_name":"is_a","term_name":"xenobiotic catabolic process","termid":"GO:0042178"},{"relation_name":"is_a","term_name":"monocarboxylic acid catabolic process","termid":"GO:0072329"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0044281"}],"interesting_parent_ids":["GO:0044281","GO:0008150"],"is_obsolete":false,"name":"3-hydroxyphenylacetate catabolic process","secondary_identifiers":["MetaCyc:3-HYDROXYPHENYLACETATE-DEGRADATION-PWY"],"synonyms":[{"name":"3-hydroxyphenylacetate breakdown","type":"exact"},{"name":"3-hydroxyphenylacetate catabolism","type":"exact"},{"name":"3-hydroxyphenylacetate degradation","type":"exact"}],"termid":"GO:0019610"}


id: PBO:0065922
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RAB, member of RAS oncogene family like 2A","termid":"PBO:0065922"}


id: PBO:0048767
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"glia maturation factor beta","termid":"PBO:0048767"}


id: MONDO:0400002
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"The ingestion of excessive calcium supplementation or calcium containing antacids, and alkali resulting in a triad of hypercalcemia, metabolic alkalosis, and renal insufficiency.","definition_xrefs":["PMID:24288027"],"direct_ancestors":[{"relation_name":"is_a","term_name":"calcium metabolic disease","termid":"MONDO:0005557"}],"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":"calcium-alkali syndrome","secondary_identifiers":["UMLS:C0026141","MEDGEN:6403"],"synonyms":[{"name":"milk-alkali syndrome","type":"exact"}],"termid":"MONDO:0400002","xrefs":{"Monarch":{"xref_id":"0400002"}}}


id: PBO:0077405
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"TMEM139 antisense RNA 1","termid":"PBO:0077405"}


id: MONDO:0002144
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete hyperuricemia (obsolete MONDO:0002144)","secondary_identifiers":["MESH:D033461","ICD9:790.6","SCTID:35885006","DOID:1920"],"synonyms":[{"name":"blood urate raized","type":"exact"},{"name":"hyperuricemia","type":"exact"},{"name":"obsolete hyperuricemia (disease)","type":"exact"},{"name":"uricacidemia","type":"exact"}],"termid":"MONDO:0002144","xrefs":{"Monarch":{"xref_id":"0002144"}}}


id: MONDO:0013184
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.","definition_xrefs":["Orphanet:92050"],"direct_ancestors":[{"relation_name":"is_a","term_name":"congenital secretory diarrhea","termid":"MONDO:0045032"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0004335"}],"interesting_parent_ids":["MONDO:0004335"],"is_obsolete":false,"name":"congenital diarrhea 5 with tufting enteropathy","secondary_identifiers":["GARD:10630","SCTID:715669000","DOID:0060776","MESH:C567703","MEDGEN:413031","UMLS:C2750737","OMIM:613217"],"synonyms":[{"name":"DIAR5","type":"exact"},{"name":"EPCAM secretory diarrhea","type":"exact"},{"name":"EPCAM secretory diarrhoea","type":"exact"},{"name":"IED","type":"exact"},{"name":"congenital diarrhea 5 with tufting enteropathy","type":"exact"},{"name":"congenital enteropathy","type":"related"},{"name":"congenital familial intractable diarrhea with enterocytes assembly abnormalities","type":"related"},{"name":"congenital familial intractable diarrhea with epithelial or epithelium abnormalities","type":"exact"},{"name":"congenital familial intractable diarrhoea with enterocytes assembly abnormalities","type":"related"},{"name":"congenital familial intractable diarrhoea with epithelial or epithelium abnormalities","type":"exact"},{"name":"congenital tufting enteropathy","type":"exact"},{"name":"diarrhea 5, with tufting enteropathy, congenital","type":"related"},{"name":"diarrhoea 5, with tufting enteropathy, congenital","type":"related"},{"name":"enteropathy, congenital tufting","type":"related"},{"name":"intestinal epithelial cell dysplasia","type":"related"},{"name":"intestinal epithelial dysplasia","type":"exact"},{"name":"secretory diarrhea caused by mutation in EPCAM","type":"exact"},{"name":"secretory diarrhoea caused by mutation in EPCAM","type":"exact"},{"name":"tufting enteropathy","type":"exact"}],"termid":"MONDO:0013184","xrefs":{"Monarch":{"xref_id":"0013184"}}}


id: PBO:0040532
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","termid":"PBO:0040532"}


id: GO:0010201
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 the detection of a continuous far red light stimulus by the high-irradiance response system. Far red light is electromagnetic radiation of wavelength 700-800nm. The activity of the high-irradiance response system is characterized by stronger effects of continuous than pulsed light at equal total fluence.","definition_xrefs":["GOC:mtg_far_red","GOC:sm"],"direct_ancestors":[{"relation_name":"is_a","term_name":"response to far red light","termid":"GO:0010218"}],"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 continuous far red light stimulus by the high-irradiance response system","termid":"GO:0010201"}


id: PBO:0027786
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_serine_phosphorylation_during_nitrogen_starvation","termid":"PBO:0027786"}


id: PBO:0000234
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"nicotinamide mononucleotide (NMN) adenylyltransferase (predicted)","termid":"PBO:0000234"}


id: PBO:0042080
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"coiled-coil domain containing 148","termid":"PBO:0042080"}


id: MONDO:0008550
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete thoracolaryngopelvic dysplasia (obsolete MONDO:0008550)","termid":"MONDO:0008550","xrefs":{"Monarch":{"xref_id":"0008550"}}}


id: GO:0002045
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process that modulates the frequency, rate or extent of attachment of a blood vessel endothelial cell to another cell or to the extracellular matrix involved in intussusceptive angiogenesis.","definition_xrefs":["PMID:16391003"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of cell adhesion","termid":"GO:0030155"},{"relation_name":"part_of","term_name":"intussusceptive angiogenesis","termid":"GO:0002041"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"regulates","termid":"GO:0007155"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150","GO:0007155"],"is_obsolete":false,"name":"regulation of cell adhesion involved in intussusceptive angiogenesis","termid":"GO:0002045"}


id: PR:O94316
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A 116 kDa U5 small nuclear ribonucleoprotein component that is encoded in the genome of Schizosaccharomyces pombe 972h-.","definition_xrefs":["OMA:SCHPO03969","PANTHER:PTHR23115:SF5","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-splicing factor cwf10 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPBC215.12","secondary_identifiers":["UniProtKB:O94316"],"synonyms":[{"name":"114 kDa U5 small nuclear ribonucleoprotein component homolog (Schizosaccharomyces pombe 972h-)","type":"exact"},{"name":"Spom972h-EFTUD2","type":"exact"},{"name":"complexed with cdc5 protein 10 (Schizosaccharomyces pombe 972h-)","type":"exact"}],"termid":"PR:O94316"}


id: GO:0005237
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Enables the transmembrane transfer of an ion by a channel that opens when a specific extracellular inhibitory ligand has been bound by the channel complex or one of its constituent parts. Inhibitory ligands, such as GABA or glycine, open chloride-selective channels.","definition_xrefs":["GOC:mah","ISBN:0323037070"],"direct_ancestors":[{"relation_name":"is_a","term_name":"extracellular ligand-gated monoatomic ion channel activity","termid":"GO:0005230"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0022857"},{"rel_name":"is_a","termid":"GO:0005215"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0022857","GO:0005215","GO:0003674"],"is_obsolete":false,"name":"inhibitory extracellular ligand-gated monoatomic ion channel activity","synonyms":[{"name":"inhibitory extracellular ligand-gated ion channel activity","type":"broad"}],"termid":"GO:0005237"}


id: PBO:0085911
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Protein of unknown function; may interact with ribosomes, based on co-purification experiments; member of the ovarian tumor-like (OTU) superfamily of predicted cysteine proteases; shows cytoplasmic localization; protein abundance increases in response to DNA replication stress","termid":"PBO:0085911"}


id: MONDO:1011933
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"respiratory system disorder, non-human animal","termid":"MONDO:0700104"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"pulmonary surfactant metabolism dysfunction, non-human animal","secondary_identifiers":["OMIA:002251"],"termid":"MONDO:1011933","xrefs":{"Monarch":{"xref_id":"1011933"}}}


id: SO:0000982
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"A transcription terminator that is not dependent upon Rho. Rather, the mRNA contains a sequence that allows it to base-pair with itself and make a stem-loop structure.","direct_ancestors":[{"relation_name":"is_a","term_name":"bacterial_terminator","termid":"SO:0000614"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"rho_independent_bacterial_terminator","synonyms":[{"name":"rho independent bacterial terminator","type":"exact"}],"termid":"SO:0000982"}


id: PBO:0052076
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"katanin regulatory subunit B1 like 1 pseudogene 1","termid":"PBO:0052076"}


id: MONDO:0030981
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"severe combined immunodeficiency","termid":"MONDO:0015974"}],"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":"immunodeficiency 79","secondary_identifiers":["GARD:9523","UMLS:C5543220","DOID:0112277","MEDGEN:1783683","OMIM:619238"],"synonyms":[{"name":"CD4 Deficiency","type":"exact"},{"name":"IMD79","type":"exact"},{"name":"immunodeficiency 79","type":"exact"}],"termid":"MONDO:0030981","xrefs":{"Monarch":{"xref_id":"0030981"}}}


id: MONDO:0033652
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"mitochondrial complex IV deficiency, nuclear-type","termid":"MONDO:0033885"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0004069"},{"rel_name":"is_a","termid":"MONDO:0005066"}],"interesting_parent_ids":["MONDO:0005066","MONDO:0004069"],"is_obsolete":false,"name":"mitochondrial complex 4 deficiency, nuclear type 17","secondary_identifiers":["GARD:16414","MEDGEN:1730423","DOID:0070502","OMIM:619061","UMLS:C5436718"],"synonyms":[{"name":"MC4DN17","type":"exact"},{"name":"mitochondrial complex IV deficiency, nuclear type 17","type":"exact"}],"termid":"MONDO:0033652","xrefs":{"Monarch":{"xref_id":"0033652"}}}


id: PBO:0054995
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 2410","termid":"PBO:0054995"}


id: PBO:0058071
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 4290","termid":"PBO:0058071"}


id: GO:0050838
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. The methylation of 5-hydroxy-L-lysine to form peptidyl-N6,N6,N6-trimethyl-5-hydroxy-L-lysine.","definition_xrefs":["RESID:AA0359"],"gene_count":0,"genotype_count":0,"name":"obsolete peptidyl-5-hydroxy-L-lysine trimethylation (obsolete GO:0050838)","termid":"GO:0050838"}


id: PR:P07669
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A triosephosphate isomerase that is encoded in the genome of Schizosaccharomyces pombe 972h-.","definition_xrefs":["OMA:SCHPO04516","PRO:DNx","PANTHER:PTHR21139:SF0"],"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":"triosephosphate isomerase (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPCC24B10.21","secondary_identifiers":["UniProtKB:P07669"],"synonyms":[{"name":"Spom972h-TPI1","type":"exact"},{"name":"TIM (Schizosaccharomyces pombe 972h-)","type":"exact"},{"name":"triose-phosphate isomerase (Schizosaccharomyces pombe 972h-)","type":"exact"}],"termid":"PR:P07669"}


id: PBO:0080530
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"WASH complex subunit 2C","termid":"PBO:0080530"}


id: MONDO:0022809
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"syndromic disease","termid":"MONDO:0002254"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Colver Steer Godman syndrome","termid":"MONDO:0022809","xrefs":{"Monarch":{"xref_id":"0022809"}}}


id: GO:0030860
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of polarized epithelial cell differentiation.","definition_xrefs":["GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of epithelial cell differentiation","termid":"GO:0030856"},{"relation_name":"is_a","term_name":"regulation of animal organ morphogenesis","termid":"GO:2000027"},{"relation_name":"regulates","term_name":"polarized epithelial cell differentiation","termid":"GO:0030859"}],"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 polarized epithelial cell differentiation","termid":"GO:0030860"}


id: PBO:0062351
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"olfactory receptor family 6 subfamily M member 2 pseudogene","termid":"PBO:0062351"}


id: PBO:0027550
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_localization_to_telomere","termid":"PBO:0027550"}


id: MONDO:0020519
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A multifocal, unisystem form of Langerhans-cell histiocytosis. There is involvement of multiple sites in one organ system, most frequently the bone. Patients are usually young children presenting with multiple destructive bone lesions.","definition_xrefs":["NCIT:C6920"],"direct_ancestors":[{"relation_name":"is_a","term_name":"Langerhans cell histiocytosis","termid":"MONDO:0018310"}],"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":"hand-Schuller-Christian disease","secondary_identifiers":["Orphanet:99873","SCTID:39795003","GARD:6567","ICDO:9753/1","MEDGEN:1804593","UMLS:C5574737","ICD9:277.89"],"synonyms":[{"name":"chronic multifocal Langerhans cell histiocytosis","type":"exact"},{"name":"classic multifocal Langerhans cell histiocytosis","type":"exact"},{"name":"hand-SChüller-Christian disease","type":"exact"},{"name":"hand-Schuller-Christian disease","type":"exact"},{"name":"multifocal Unisystem Langerhans cell histiocytosis","type":"exact"},{"name":"multifocal eosinophilic granuloma","type":"exact"}],"termid":"MONDO:0020519","xrefs":{"Monarch":{"xref_id":"0020519"}}}


id: PBO:0091843
data:
  {"annotation_feature_type":"gene","cv_name":"warning","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"II:g.3619003_3619004insG","termid":"PBO:0091843"}


id: MONDO:0015601
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  {"annotated_genes":["SJAG_05239"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[86269],"is_not":false,"summary":null,"term":"MONDO:0015601"}]},"cv_name":"mondo","definition":"X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism.","definition_xrefs":["Orphanet:163976"],"direct_ancestors":[{"relation_name":"is_a","term_name":"X-linked syndromic intellectual disability","termid":"MONDO:0020119"}],"gene_count":1,"genes_by_uniquename":{"SJAG_05239":null},"genotype_count":0,"is_obsolete":false,"name":"X-linked intellectual disability, van Esch type","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["OMIM:301030","UMLS:C4305072","DOID:0111840","GARD:17008","SCTID:718914002","MEDGEN:930741"],"synonyms":[{"name":"VEODS","type":"exact"},{"name":"Van Esch-O'Driscoll syndrome","type":"exact"},{"name":"Van Esch-O'Driscoll syndrome, X-linked recessive","type":"exact"},{"name":"mental retardation, X-Linked, syndromic, Van Esch-O'Driscoll type","type":"exact"}],"termid":"MONDO:0015601","terms_by_termid":{"MONDO:0015601":null},"xrefs":{"Monarch":{"xref_id":"0015601"}}}


id: GO:0072522
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  {"annotated_genes":["SJAG_00866","SJAG_00438","SJAG_00836","SJAG_04627","SJAG_05204","SJAG_00427","SJAG_01070","SJAG_04634","SJAG_04849","SJAG_03925","SJAG_03310","SJAG_02158","SJAG_01566","SJAG_MIT15","SJAG_02887","SJAG_03313","SJAG_MIT37","SJAG_04882","SJAG_00915","SJAG_07003","SJAG_03731","SJAG_02564","SJAG_00134","SJAG_01402","SJAG_04681","SJAG_00133","SJAG_01859","SJAG_00982","SJAG_MIT09","SJAG_03946","SJAG_00542","SJAG_03355","SJAG_04422","SJAG_00985","SJAG_03096","SJAG_01500","SJAG_03140","SJAG_01814","SJAG_01081","SJAG_04007","SJAG_03298","SJAG_03881","SJAG_03811","SJAG_03064","SJAG_02006","SJAG_03290","SJAG_02364","SJAG_02741","SJAG_04288","SJAG_02889","SJAG_02850","SJAG_00964","SJAG_04123","SJAG_01582","SJAG_02598","SJAG_04693","SJAG_00044","SJAG_05277","SJAG_03114","SJAG_01298","SJAG_02618","SJAG_04970","SJAG_02769","SJAG_02038","SJAG_01139","SJAG_01661","SJAG_02105","SJAG_06634","SJAG_04122"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[79181,77151],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0044208"},{"annotations":[65565,57099,64558,72092,77123,58002,60147,70286],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0006189"},{"annotations":[93603,98700],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0006085"},{"annotations":[68856,91779],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0019427"},{"annotations":[117350],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1990181"},{"annotations":[117656,110673,71013],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0046084"},{"annotations":[74299],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0006168"},{"annotations":[89223],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0046086"},{"annotations":[117138],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0006169"},{"annotations":[72269],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0006172"},{"annotations":[74295,57088],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0044209"},{"annotations":[89717,80307,71480,78940,71962],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0015937"},{"annotations":[59501,75080,63136],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0006177"},{"annotations":[75995],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0032263"},{"annotations":[75212,64615,102554],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0006183"},{"annotations":[65070,75996],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0032264"},{"annotations":[70162],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0006190"},{"annotations":[107785],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0035338"},{"annotations":[66262],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:2001295"},{"annotations":[113394,75100,77806],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0009435"},{"annotations":[99666,80285],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0034355"},{"annotations":[78296,80207,71445],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0006741"},{"annotations":[118306],"is_not":false,"rel_names":["regulates","negatively_regulates"],"summary":null,"term":"GO:1905707"},{"annotations":[93196,93627,119373,119361,94210,109099,105330,103995,103349,102133,116147,89471,103966,108118,119367,95181,108210],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0042776"},{"annotations":[60145,114810],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0009113"},{"annotations":[74224,98037,72764],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0006164"},{"annotations":[61950,94098,66869,73848],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0006166"},{"annotations":[73746,74982,73114,79415,87768,88198],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0006086"},{"annotations":[75466],"is_not":false,"rel_names":["regulates"],"summary":null,"term":"GO:0010510"},{"annotations":[75997],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0032265"}]},"cv_name":"biological_process","definition":"The 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id: PBO:0056451
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microtubule affinity regulating kinase 3 pseudogene 3","termid":"PBO:0056451"}


id: MONDO:0100259
data:
  {"annotated_genes":["SJAG_02619"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[87194],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0008953"},{"annotations":[87538],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0011101"}]},"cv_name":"mondo","definition":"Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"Zellweger spectrum disorders","termid":"MONDO:0019609"}],"gene_count":1,"genes_by_uniquename":{"SJAG_02619":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005066"},{"rel_name":"is_a","termid":"MONDO:0005559"},{"rel_name":"is_a","termid":"MONDO:0019053"},{"rel_name":"is_a","termid":"MONDO:0006025"},{"rel_name":"is_a","termid":"MONDO:0005244"}],"interesting_parent_ids":["MONDO:0005066","MONDO:0019053","MONDO:0005244","MONDO:0005559","MONDO:0006025"],"is_obsolete":false,"name":"peroxisome biogenesis disorder due to PEX1 defect","references_by_uniquename":{"PB_REF:0000006":null},"synonyms":[{"name":"PEX1 related Zellweger spectrum disorder","type":"exact"},{"name":"peroxisome biogenesis disorder due to PEX1 defect","type":"exact"}],"termid":"MONDO:0100259","terms_by_termid":{"MONDO:0008953":null,"MONDO:0011101":null},"xrefs":{"Monarch":{"xref_id":"0100259"}}}


id: PBO:0079341
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"testis-specific transcript, Y-linked 25, pseudogene","termid":"PBO:0079341"}


id: MONDO:0015554
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"maculopapular cutaneous mastocytosis","termid":"MONDO:0019316"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005046"},{"rel_name":"is_a","termid":"MONDO:0005093"},{"rel_name":"is_a","termid":"MONDO:0005570"}],"interesting_parent_ids":["MONDO:0005046","MONDO:0005570","MONDO:0005093"],"is_obsolete":false,"name":"typical urticaria pigmentosa","secondary_identifiers":["MEDGEN:1843439","GARD:20033","UMLS:C5680683","Orphanet:158766"],"termid":"MONDO:0015554","xrefs":{"Monarch":{"xref_id":"0015554"}}}


id: GO:0140273
data:
  {"annotated_genes":["SJAG_01837","SJAG_03048","SJAG_01805","SJAG_04140","SJAG_00082"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[116979,90342,102696,111510,94147],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0140429"}]},"cv_name":"biological_process","definition":"The mitotic cell cycle process where kinetochore microtubule attachment defects are corrected.","definition_xrefs":["PMID:15525536"],"direct_ancestors":[{"relation_name":"is_a","term_name":"repair of kinetochore microtubule attachment defect","termid":"GO:0140274"},{"relation_name":"is_a","term_name":"mitotic cell cycle process","termid":"GO:1903047"},{"relation_name":"part_of","term_name":"mitotic metaphase chromosome alignment","termid":"GO:0007080"}],"gene_count":5,"genes_by_uniquename":{"SJAG_00082":null,"SJAG_01805":null,"SJAG_01837":null,"SJAG_03048":null,"SJAG_04140":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"part_of","termid":"GO:0000070"},{"rel_name":"part_of","termid":"GO:0007049"}],"interesting_parent_ids":["GO:0007049","GO:0008150","GO:0000070"],"is_obsolete":false,"name":"repair of mitotic kinetochore microtubule attachment defect","references_by_uniquename":{"GO_REF:0000107":null},"synonyms":[{"name":"correction of mitotic kinetochore microtubule attachment defects","type":"exact"},{"name":"repair of mitotic kinetochore microtubule attachment defects","type":"exact"}],"termid":"GO:0140273","terms_by_termid":{"GO:0140429":null}}


id: PBO:0059161
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"MPRIP antisense RNA 1","termid":"PBO:0059161"}


id: GO:0060310
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the rate, frequency or extent of elastin catabolism, the chemical reactions and pathways resulting in the breakdown of elastin.","definition_xrefs":["GOC:dph","GOC:tb","GOC:BHF"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of protein catabolic process","termid":"GO:0042176"},{"relation_name":"is_a","term_name":"regulation of glycoprotein metabolic process","termid":"GO:1903018"},{"relation_name":"regulates","term_name":"elastin catabolic process","termid":"GO:0060309"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"regulates","termid":"GO:0030163"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150","GO:0030163"],"is_obsolete":false,"name":"regulation of elastin catabolic process","synonyms":[{"name":"regulation of elastin breakdown","type":"related"},{"name":"regulation of elastin catabolism","type":"exact"},{"name":"regulation of elastin degradation","type":"exact"}],"termid":"GO:0060310"}


id: PBO:0083035
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Delta 2-isopentenyl pyrophosphate:tRNA isopentenyl transferase; required for biosynthesis of isopentenyladenosine in mitochondrial and cytoplasmic tRNAs; also has a role in tRNA gene-mediated silencing; gene encodes two isozymic forms; converts to a prion form, prion conversion contributes to azole antifungal resistance by upregulating ergosterol biosynthesis; homolog of human TRIT1, a mutation in which is associated with severe combined respiratory chain defects","termid":"PBO:0083035"}


id: PBO:0065799
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"R3HDML antisense RNA 1","termid":"PBO:0065799"}


id: PBO:0056118
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"LYR motif containing 4","termid":"PBO:0056118"}


id: MONDO:0008275
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"primary osteolysis","termid":"MONDO:0019707"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"familial expansile osteolysis","secondary_identifiers":["MEDGEN:96593","GARD:9168","Orphanet:85195","DOID:0111542","icd11.foundation:1161028858","ICD9:756.9","SCTID:254153009","UMLS:C0432292","OMIM:174810","MESH:C536335"],"synonyms":[{"name":"EOF","type":"related"},{"name":"FEO","type":"related"},{"name":"HEPOD","type":"related"},{"name":"McCabe disease","type":"exact"},{"name":"Mccabe disease","type":"related"},{"name":"expansile osteolysis, familial","type":"related"},{"name":"familial expansile osteolysis","type":"exact"},{"name":"hereditary expansile polyostotic osteolytic dysplasia","type":"exact"},{"name":"osteolysis, familial expansile","type":"related"},{"name":"polyostotic osteolytic dysplasia, hereditary expansile","type":"related"}],"termid":"MONDO:0008275","xrefs":{"Monarch":{"xref_id":"0008275"}}}


id: GO:0019755
data:
  {"annotated_genes":["SJAG_02125","SJAG_04731"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[99576],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0072489"},{"annotations":[57941],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0071918"}]},"cv_name":"biological_process","definition":"The directed movement of one-carbon compounds into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.","definition_xrefs":["GOC:ai"],"direct_ancestors":[{"relation_name":"is_a","term_name":"transport","termid":"GO:0006810"}],"gene_count":2,"genes_by_uniquename":{"SJAG_02125":null,"SJAG_04731":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0006810"},{"rel_name":"is_a","termid":"GO:0051179"}],"interesting_parent_ids":["GO:0051179","GO:0006810","GO:0008150"],"is_obsolete":false,"name":"one-carbon compound transport","references_by_uniquename":{"GO_REF:0000002":null,"GO_REF:0000107":null},"synonyms":[{"name":"one carbon compound transport","type":"exact"}],"termid":"GO:0019755","terms_by_termid":{"GO:0071918":null,"GO:0072489":null}}


id: GO:1901186
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that activates or increases the frequency, rate or extent of ERBB signaling pathway.","definition_xrefs":["GOC:BHF","GOC:TermGenie"],"direct_ancestors":[{"relation_name":"is_a","term_name":"positive regulation of signal transduction","termid":"GO:0009967"},{"relation_name":"is_a","term_name":"regulation of ERBB signaling pathway","termid":"GO:1901184"},{"relation_name":"positively_regulates","term_name":"ERBB signaling pathway","termid":"GO:0038127"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"regulates","termid":"GO:0023052"},{"rel_name":"positively_regulates","termid":"GO:0023052"}],"interesting_parent_ids":["GO:0023052","GO:0008150"],"is_obsolete":false,"name":"positive regulation of ERBB signaling pathway","synonyms":[{"name":"activation of EGF receptor family signaling pathway","type":"exact"},{"name":"activation of EGFR family signaling pathway","type":"related"},{"name":"activation of ERBB signaling pathway","type":"narrow"},{"name":"activation of ERBB signalling pathway","type":"exact"},{"name":"activation of ErbB signaling","type":"exact"},{"name":"positive regulation of EGF receptor family signaling pathway","type":"exact"},{"name":"positive regulation of EGFR family signaling pathway","type":"related"},{"name":"positive regulation of ERBB signalling pathway","type":"exact"},{"name":"positive regulation of ErbB signaling","type":"exact"},{"name":"up regulation of EGF receptor family signaling pathway","type":"exact"},{"name":"up regulation of EGFR family signaling pathway","type":"related"},{"name":"up regulation of ERBB signaling pathway","type":"exact"},{"name":"up regulation of ERBB signalling pathway","type":"exact"},{"name":"up regulation of ErbB signaling","type":"exact"},{"name":"up-regulation of EGF receptor family signaling pathway","type":"exact"},{"name":"up-regulation of EGFR family signaling pathway","type":"related"},{"name":"up-regulation of ERBB signaling pathway","type":"exact"},{"name":"up-regulation of ERBB signalling pathway","type":"exact"},{"name":"up-regulation of ErbB signaling","type":"exact"},{"name":"upregulation of EGF receptor family signaling pathway","type":"exact"},{"name":"upregulation of EGFR family signaling pathway","type":"related"},{"name":"upregulation of ERBB signaling pathway","type":"exact"},{"name":"upregulation of ERBB signalling pathway","type":"exact"},{"name":"upregulation of ErbB signaling","type":"exact"}],"termid":"GO:1901186"}


id: GO:1905749
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of endosome to plasma membrane protein transport.","definition_xrefs":["GO_REF:0000058","GOC:TermGenie","PMID:22869721"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of intracellular protein transport","termid":"GO:0033157"},{"relation_name":"is_a","term_name":"regulation of protein localization to plasma membrane","termid":"GO:1903076"},{"relation_name":"is_a","term_name":"regulation of endocytic recycling","termid":"GO:2001135"},{"relation_name":"regulates","term_name":"endosome to plasma membrane protein transport","termid":"GO:0099638"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"regulates","termid":"GO:0016192"},{"rel_name":"regulates","termid":"GO:0006810"}],"interesting_parent_ids":["GO:0008150","GO:0016192","GO:0006810"],"is_obsolete":false,"name":"regulation of endosome to plasma membrane protein transport","termid":"GO:1905749"}


id: MONDO:1012766
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Any dwarfism that occurs in cattle due to a mutation in the GON4L gene.","definition_xrefs":["MONDO:patterns/nonhuman_disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"hereditary disease, non-human animal","termid":"MONDO:1011321"},{"relation_name":"is_a","term_name":"dwarfism, non-human animal","termid":"MONDO:1012971"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"dwarfism, GON4L-related, cattle","secondary_identifiers":["OMIA:001985-9913"],"synonyms":[{"name":"dwarfism, Fleckvieh cattle","type":"related"}],"termid":"MONDO:1012766","xrefs":{"Monarch":{"xref_id":"1012766"}}}


id: PBO:0060267
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"myosin heavy chain 1","termid":"PBO:0060267"}


id: PR:O94327
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- SPBC725.10 gene.","definition_xrefs":["UniProtKB:O94327","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":"translocator protein homolog (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPBC725.10","synonyms":[{"name":"Spom972h-SPBC725.10","type":"exact"}],"termid":"PR:O94327"}


id: PBO:0058220
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 4510","termid":"PBO:0058220"}


id: PBO:0072787
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"sarcoma antigen 2, pseudogene","termid":"PBO:0072787"}


id: MOD:00311
data:
  {"annotation_feature_type":"gene","cv_name":"PSI-MOD","definition":"A protein modification that effectively converts an L-cysteine residue to L-cysteine coenzyme A disulfide.","definition_xrefs":["DeltaMass:0","PubMed:1734967","RESID:AA0306","Unimod:281#C"],"direct_ancestors":[{"relation_name":"is_a","term_name":"phosphorus containing modified residue","termid":"MOD:00861"},{"relation_name":"is_a","term_name":"modified L-cysteine residue","termid":"MOD:00905"},{"relation_name":"is_a","term_name":"disulfide conjugated residue","termid":"MOD:01862"}],"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":"L-cysteine coenzyme A disulfide","synonyms":[{"name":"(2R)-2-amino-3-(2-((3-(((2R)-2,4-dihydroxy-3,3-dimethyl-1-oxobutyl)amino)-1-oxopropyl)amino)ethyl)dithio-propanoic acid 4'-ester with adenosine 5'-(trihydrogen diphosphate) 3'-(dihydrogen phosphate)","type":"exact"},{"name":"CoenzymeA","type":"related"},{"name":"Cysteine modified Coenzyme A","type":"related"},{"name":"L-cysteine coenzyme A disulfide","type":"exact"},{"name":"SCoACys","type":"exact"},{"name":"coenzyme A L-cysteine mixed disulfide","type":"exact"}],"termid":"MOD:00311"}


id: PBO:0054076
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 1426","termid":"PBO:0054076"}


id: GO:0050373
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: UDP-L-arabinose = UDP-alpha-D-xylose.","definition_xrefs":["RHEA:11320","EC:5.1.3.5"],"direct_ancestors":[{"relation_name":"is_a","term_name":"racemase and epimerase activity, acting on carbohydrates and derivatives","termid":"GO:0016857"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0016853"}],"interesting_parent_ids":["GO:0016853","GO:0003674","GO:0003824"],"is_obsolete":false,"name":"UDP-arabinose 4-epimerase activity","secondary_identifiers":["KEGG_REACTION:R01473","MetaCyc:UDP-ARABINOSE-4-EPIMERASE-RXN"],"synonyms":[{"name":"UDP arabinose epimerase activity","type":"related"},{"name":"UDP-D-xylose 4-epimerase activity","type":"related"},{"name":"UDP-D-xylose-4-epimerase activity","type":"exact"},{"name":"UDP-L-arabinose 4-epimerase activity","type":"related"},{"name":"UDParabinose 4-epimerase activity","type":"related"},{"name":"uridine 5'-diphosphate-D-xylose 4-epimerase activity","type":"related"},{"name":"uridine diphosphoarabinose epimerase activity","type":"related"}],"termid":"GO:0050373"}


id: PR:O42907
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- SPBC119.16c gene.","definition_xrefs":["PRO:DNx","UniProtKB:O42907"],"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 C119.16c (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPBC119.16c","synonyms":[{"name":"Spom972h-SPBC119.16c","type":"exact"}],"termid":"PR:O42907"}


id: FYPO:0007265
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A physical cellular phenotype observed in the vegetative growth phase of the life cycle in which cells contain fewer, and longer, eisosome filaments than normal.","definition_xrefs":["PMID:32023460","PomBase:mah"],"direct_ancestors":[{"relation_name":"has_part","term_name":"long eisosome filament","termid":"FYPO:0007264"},{"relation_name":"is_a","term_name":"long eisosome filament","termid":"FYPO:0007264"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"has_part","termid":"FYPO:0001320"},{"rel_name":"has_part","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0001985"}],"interesting_parent_ids":["FYPO:0000002","FYPO:0001320","FYPO:0001985"],"is_obsolete":false,"name":"long eisosome filaments present in decreased numbers","synonyms":[{"name":"decreased number of long eisosome filaments present","type":"exact"},{"name":"fewer long eisosome filaments present","type":"exact"},{"name":"long eisosome filaments present in decreased numbers during mitotic cell cycle","type":"related"},{"name":"long eisosome filaments present in decreased numbers during vegetative growth","type":"exact"},{"name":"long eisosome filaments present in reduced numbers","type":"exact"}],"termid":"FYPO:0007265"}


id: PBO:0052219
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"potassium calcium-activated channel subfamily U member 1","termid":"PBO:0052219"}


id: PBO:0027635
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-decreased_exocytosis","termid":"PBO:0027635"}


id: GO:0031547
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The series of molecular signals generated as a consequence of a brain-derived neurotrophic factor receptor binding to one of its physiological ligands.","definition_xrefs":["GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cell surface receptor protein tyrosine kinase signaling pathway","termid":"GO:0007169"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"part_of","termid":"GO:0023052"}],"interesting_parent_ids":["GO:0023052","GO:0008150"],"is_obsolete":false,"name":"brain-derived neurotrophic factor receptor signaling pathway","synonyms":[{"name":"BDNF receptor signaling pathway","type":"exact"},{"name":"BDNF signalling pathway","type":"exact"},{"name":"brain-derived neurotrophic factor receptor signalling pathway","type":"exact"}],"termid":"GO:0031547"}


id: FYPO:0004975
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 depolymerization (i.e. removal of tubulin dimers) of microtubules extending behind a moving spindle pole body occurs at a lower rate, or speed, than normal.","definition_xrefs":["PMID:16611238","PomBase:mah","GO:0036078"],"direct_ancestors":[{"relation_name":"is_a","term_name":"decreased rate of microtubule depolymerization during vegetative growth","termid":"FYPO:0000903"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000054"},{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0000002"}],"interesting_parent_ids":["FYPO:0000002","FYPO:0000054","FYPO:0001320","FYPO:0001985","FYPO:0005447"],"is_obsolete":false,"name":"decreased rate of microtubule depolymerization behind moving spindle pole body","synonyms":[{"name":"decreased microtubule shrinkage behind moving spindle pole body","type":"related"},{"name":"decreased rate of backward-extending microtubule depolymerization","type":"exact"},{"name":"decreased rate of microtubule catastrophe behind moving spindle pole body","type":"related"},{"name":"decreased rate of microtubule depolymerisation behind moving spindle pole body","type":"exact"},{"name":"decreased rate of microtubule depolymerization behind moving SPB","type":"exact"},{"name":"decreased rate of microtubule depolymerization behind moving spindle pole body during mitotic cell cycle","type":"related"},{"name":"decreased rate of microtubule depolymerization behind moving spindle pole body during vegetative growth","type":"exact"},{"name":"increased microtubule stability behind moving spindle pole body","type":"related"},{"name":"increased stability of backwards-extending microtubules","type":"related"},{"name":"reduced rate of microtubule depolymerization behind moving spindle pole body","type":"exact"}],"termid":"FYPO:0004975"}


id: MONDO:0018997
data:
  {"annotated_genes":["SJAG_03453","SJAG_02342","SJAG_01181","SJAG_00993","SJAG_02923"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[87611,87609,87610],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0008104"},{"annotations":[86129],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0033669"},{"annotations":[86999],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0012371"},{"annotations":[86796],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0013186"}]},"cv_name":"mondo","definition":"Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects.","definition_xrefs":["Orphanet:648"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"RASopathy","termid":"MONDO:0021060"},{"relation_name":"is_a","term_name":"syndromic disease","termid":"MONDO:0002254"},{"relation_name":"is_a","term_name":"multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome","termid":"MONDO:0015160"},{"relation_name":"is_a","term_name":"lymphatic malformation","termid":"MONDO:0019313"},{"relation_name":"is_a","term_name":"Noonan syndrome and Noonan-related syndrome","termid":"MONDO:0020297"}],"gene_count":5,"genes_by_uniquename":{"SJAG_00993":null,"SJAG_01181":null,"SJAG_02342":null,"SJAG_02923":null,"SJAG_03453":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005267"},{"rel_name":"is_a","termid":"MONDO:0005046"}],"interesting_parent_ids":["MONDO:0005267","MONDO:0005046"],"is_obsolete":false,"name":"Noonan syndrome","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["NANDO:1200680","DOID:3490","ICD9:759.89","NORD:1513","NANDO:2200413","NCIT:C34854","OMIMPS:163950","MedDRA:10029748","SCTID:205824006","UMLS:C0028326","icd11.foundation:1044395354","MEDGEN:18073","GARD:10955","MESH:D009634"],"synonyms":[{"name":"Noonan syndrome","type":"exact"},{"name":"Noonan's syndrome","type":"exact"},{"name":"Noonan-Ehmke syndrome","type":"related"},{"name":"Turner's phenotype, karyotype normal","type":"exact"},{"name":"Ullrich-Noonan syndrome","type":"related"},{"name":"pseudo-Ullrich-Turner syndrome","type":"related"}],"termid":"MONDO:0018997","terms_by_termid":{"MONDO:0008104":null,"MONDO:0012371":null,"MONDO:0013186":null,"MONDO:0033669":null},"xrefs":{"Monarch":{"xref_id":"0018997"}}}


id: PBO:0070887
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RPL15 pseudogene 19","termid":"PBO:0070887"}


id: PBO:0073921
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"solute carrier family 16 member 10","termid":"PBO:0073921"}


id: PBO:0086350
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"P-type ATPase sodium pump; involved in Na+ and Li+ efflux to allow salt tolerance","termid":"PBO:0086350"}


id: PBO:0064393
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"phosphomevalonate kinase","termid":"PBO:0064393"}


id: FYPO:0006630
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cell morphology phenotype in which a vegetative cell is inviable, elongated, has no septum, and contains four nuclei.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"inviable elongated multinucleate aseptate vegetative cell","termid":"FYPO:0002024"},{"relation_name":"is_a","term_name":"elongated tetranucleate vegetative cell","termid":"FYPO:0004044"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"output_of","termid":"FYPO:0001320"},{"rel_name":"output_of","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0000004"},{"rel_name":"has_part","termid":"FYPO:0000005"},{"rel_name":"output_of","termid":"FYPO:0000631"},{"rel_name":"output_of","termid":"FYPO:0000032"},{"rel_name":"output_of","termid":"FYPO:0005447"},{"rel_name":"has_part","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0000005"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"has_part","termid":"FYPO:0001985"},{"rel_name":"has_part","termid":"FYPO:0000004"}],"interesting_parent_ids":["FYPO:0001320","FYPO:0000005","FYPO:0000032","FYPO:0005447","FYPO:0000002","FYPO:0001985","FYPO:0000004","FYPO:0000631"],"is_obsolete":false,"name":"inviable elongated tetranucleate aseptate vegetative cell","synonyms":[{"name":"elongated tetranucleate aseptate inviable vegetative cell","type":"exact"},{"name":"inviable elongated tetranucleate aseptate cell during vegetative growth","type":"exact"},{"name":"inviable elongated tetranucleate aseptate vegetative cell during mitotic cell cycle","type":"related"},{"name":"lethal; elongated tetranucleate aseptate vegetative cell","type":"exact"}],"termid":"FYPO:0006630"}


id: MONDO:0016023
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete ocular coloboma (obsolete MONDO:0016023)","termid":"MONDO:0016023","xrefs":{"Monarch":{"xref_id":"0016023"}}}


id: PBO:0003421
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"mediator complex subunit Med15 (predicted)","termid":"PBO:0003421"}


id: MONDO:0001986
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal pupillary function","termid":"MONDO:0001303"}],"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":"Argyll Robertson pupil","secondary_identifiers":["MEDGEN:536150","ICD10CM:H57.01","SCTID:21011008","UMLS:C0234668","icd11.foundation:1086796982","ICD9:379.45","DOID:14523"],"synonyms":[{"name":"Argyll Robertson phenomenon or pupil, nonsyphilitic","type":"exact"},{"name":"Argyll Robertson pupil, atypical","type":"exact"},{"name":"atypical Argyll-Robertson pupil","type":"exact"}],"termid":"MONDO:0001986","xrefs":{"Monarch":{"xref_id":"0001986"}}}


id: MONDO:0035349
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form). This disease can be inherited via autosomal dominant or autosomal recessive inheritance.","definition_xrefs":["Orphanet:595356"],"direct_ancestors":[{"relation_name":"is_a","term_name":"epidermolysis bullosa dystrophica","termid":"MONDO:0006543"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005093"}],"interesting_parent_ids":["MONDO:0005093"],"is_obsolete":false,"name":"localized dystrophic epidermolysis bullosa","secondary_identifiers":["MEDGEN:634276","GARD:22388","UMLS:C0474885"],"synonyms":[{"name":"localised DEB","type":"exact"},{"name":"localized DEB","type":"exact"}],"termid":"MONDO:0035349","xrefs":{"Monarch":{"xref_id":"0035349"}}}


id: PBO:0041412
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"chromosome 7 open reading frame 25","termid":"PBO:0041412"}


id: GO:1900061
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. Any positive regulation of transcription from RNA polymerase II promoter that is involved in calcium-mediated signaling.","definition_xrefs":["PMID:9407036","GOC:TermGenie","PMID:9407035"],"gene_count":0,"genotype_count":0,"name":"obsolete positive regulation of transcription from RNA polymerase II promoter involved in calcium-mediated signaling (obsolete GO:1900061)","synonyms":[{"name":"activation of global transcription from RNA polymerase II promoter of calcium ion signaling","type":"related"},{"name":"activation of global transcription from RNA polymerase II promoter of calcium signaling","type":"related"},{"name":"activation of global transcription from RNA polymerase II promoter of calcium signalling","type":"related"},{"name":"activation of global transcription from RNA polymerase II promoter of calcium-mediated signaling","type":"related"},{"name":"activation of global transcription from RNA polymerase II promoter of calcium-mediated signalling","type":"related"},{"name":"activation of transcription from RNA polymerase II promoter of calcium ion signaling","type":"narrow"},{"name":"activation of transcription from RNA polymerase II promoter of calcium signaling","type":"narrow"},{"name":"activation of transcription from RNA polymerase II promoter of calcium signalling","type":"narrow"},{"name":"activation of transcription from RNA polymerase II promoter of calcium-mediated signaling","type":"narrow"},{"name":"activation of transcription from RNA polymerase II promoter of calcium-mediated signalling","type":"narrow"},{"name":"positive regulation of gene-specific transcription from RNA polymerase II promoter of calcium ion signaling","type":"related"},{"name":"positive regulation of gene-specific transcription from RNA polymerase II promoter of calcium signaling","type":"related"},{"name":"positive regulation of gene-specific transcription from RNA polymerase II promoter of calcium signalling","type":"related"},{"name":"positive regulation of gene-specific transcription from RNA polymerase II promoter of calcium-mediated signaling","type":"related"},{"name":"positive regulation of gene-specific transcription from RNA polymerase II promoter of calcium-mediated signalling","type":"related"},{"name":"positive regulation of global transcription from Pol II promoter of calcium ion signaling","type":"related"},{"name":"positive regulation of global transcription from Pol II promoter of calcium signaling","type":"related"},{"name":"positive regulation of global transcription from Pol II promoter of calcium signalling","type":"related"},{"name":"positive regulation of global transcription from Pol II promoter of calcium-mediated signaling","type":"related"},{"name":"positive regulation of global transcription from Pol II promoter of calcium-mediated signalling","type":"related"},{"name":"positive regulation of transcription from Pol II promoter of calcium ion signaling","type":"exact"},{"name":"positive regulation of transcription from Pol II promoter of calcium signaling","type":"exact"},{"name":"positive regulation of transcription from Pol II promoter of calcium signalling","type":"exact"},{"name":"positive regulation of transcription from Pol II promoter of calcium-mediated signaling","type":"related"},{"name":"positive regulation of transcription from Pol II promoter of calcium-mediated signalling","type":"exact"},{"name":"positive regulation of transcription from RNA polymerase II promoter involved in calcium-mediated signaling","type":"exact"},{"name":"positive regulation of transcription from RNA polymerase II promoter of calcium ion signaling","type":"related"},{"name":"positive regulation of transcription from RNA polymerase II promoter of calcium signaling","type":"related"},{"name":"positive regulation of transcription from RNA polymerase II promoter of calcium signalling","type":"related"},{"name":"positive regulation of transcription from RNA polymerase II promoter of calcium-mediated signaling","type":"related"},{"name":"positive regulation of transcription from RNA polymerase II promoter of calcium-mediated signalling","type":"related"},{"name":"stimulation of global transcription from RNA polymerase II promoter of calcium ion signaling","type":"narrow"},{"name":"stimulation of global transcription from RNA polymerase II promoter of calcium signaling","type":"narrow"},{"name":"stimulation of global transcription from RNA polymerase II promoter of calcium signalling","type":"narrow"},{"name":"stimulation of global transcription from RNA polymerase II promoter of calcium-mediated signaling","type":"related"},{"name":"stimulation of global transcription from RNA polymerase II promoter of calcium-mediated signalling","type":"narrow"},{"name":"stimulation of transcription from RNA polymerase II promoter of calcium ion signaling","type":"exact"},{"name":"stimulation of transcription from RNA polymerase II promoter of calcium signaling","type":"exact"},{"name":"stimulation of transcription from RNA polymerase II promoter of calcium signalling","type":"exact"},{"name":"stimulation of transcription from RNA polymerase II promoter of calcium-mediated signaling","type":"related"},{"name":"stimulation of transcription from RNA polymerase II promoter of calcium-mediated signalling","type":"exact"},{"name":"up regulation of global transcription from RNA polymerase II promoter of calcium ion signaling","type":"related"},{"name":"up regulation of global transcription from RNA polymerase II promoter of calcium signaling","type":"related"},{"name":"up regulation of global transcription from RNA polymerase II promoter of calcium signalling","type":"related"},{"name":"up regulation of global transcription from RNA polymerase II promoter of calcium-mediated signaling","type":"related"},{"name":"up regulation of global transcription from RNA polymerase II promoter of calcium-mediated signalling","type":"related"},{"name":"up regulation of transcription from RNA polymerase II promoter of calcium ion signaling","type":"exact"},{"name":"up regulation of transcription from RNA polymerase II promoter of calcium signaling","type":"exact"},{"name":"up regulation of transcription from RNA polymerase II promoter of calcium signalling","type":"exact"},{"name":"up regulation of transcription from RNA polymerase II promoter of calcium-mediated signaling","type":"related"},{"name":"up regulation of transcription from RNA polymerase II promoter of calcium-mediated signalling","type":"exact"},{"name":"up-regulation of global transcription from RNA polymerase II promoter of calcium ion signaling","type":"related"},{"name":"up-regulation of global transcription from RNA polymerase II promoter of calcium signaling","type":"related"},{"name":"up-regulation of global transcription from RNA polymerase II promoter of calcium signalling","type":"related"},{"name":"up-regulation of global transcription from RNA polymerase II promoter of calcium-mediated signaling","type":"related"},{"name":"up-regulation of global transcription from RNA polymerase II promoter of calcium-mediated signalling","type":"related"},{"name":"up-regulation of transcription from RNA polymerase II promoter of calcium ion signaling","type":"exact"},{"name":"up-regulation of transcription from RNA polymerase II promoter of calcium signaling","type":"exact"},{"name":"up-regulation of transcription from RNA polymerase II promoter of calcium signalling","type":"exact"},{"name":"up-regulation of transcription from RNA polymerase II promoter of calcium-mediated signaling","type":"related"},{"name":"up-regulation of transcription from RNA polymerase II promoter of calcium-mediated signalling","type":"exact"},{"name":"upregulation of global transcription from RNA polymerase II promoter of calcium ion signaling","type":"related"},{"name":"upregulation of global transcription from RNA polymerase II promoter of calcium signaling","type":"related"},{"name":"upregulation of global transcription from RNA polymerase II promoter of calcium signalling","type":"related"},{"name":"upregulation of global transcription from RNA polymerase II promoter of calcium-mediated signaling","type":"related"},{"name":"upregulation of global transcription from RNA polymerase II promoter of calcium-mediated signalling","type":"related"},{"name":"upregulation of transcription from RNA polymerase II promoter of calcium ion signaling","type":"exact"},{"name":"upregulation of transcription from RNA polymerase II promoter of calcium signaling","type":"exact"},{"name":"upregulation of transcription from RNA polymerase II promoter of calcium signalling","type":"exact"},{"name":"upregulation of transcription from RNA polymerase II promoter of calcium-mediated signaling","type":"related"},{"name":"upregulation of transcription from RNA polymerase II promoter of calcium-mediated signalling","type":"exact"}],"termid":"GO:1900061"}


id: MONDO:1012253
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"spastic paresis, non-human animal","termid":"MONDO:1011859"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"spastic paresis, cattle","secondary_identifiers":["OMIA:000928-9913"],"termid":"MONDO:1012253","xrefs":{"Monarch":{"xref_id":"1012253"}}}


id: PBO:0055212
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 2637","termid":"PBO:0055212"}


id: PBO:0061026
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"nucleolar protein interacting with the FHA domain of MKI67 pseudogene 9","termid":"PBO:0061026"}


id: PBO:0059633
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microtubule crosslinking factor 1","termid":"PBO:0059633"}


id: SO:0001484
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"An X element combinatorial repeat is a repeat region located between the X element and the telomere or adjacent Y' element.","direct_ancestors":[{"relation_name":"is_a","term_name":"repeat_region","termid":"SO:0000657"},{"relation_name":"part_of","term_name":"telomere","termid":"SO:0000624"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"X_element_combinatorial_repeat","synonyms":[{"name":"INSDC_feature:repeat_region","type":"broad"},{"name":"INSDC_qualifier:x_element_combinatorial_repeat","type":"exact"},{"name":"X element combinatorial repeat","type":"exact"}],"termid":"SO:0001484"}


id: PBO:0116751
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"SWI/SNF related BAF chromatin remodeling complex subunit D1","termid":"PBO:0116751"}


id: MONDO:0000784
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"OBSOLETE. A fruit allergy triggered by Cucumis melo plant fruit food product.","definition_xrefs":["DOID:0060509"],"gene_count":0,"genotype_count":0,"name":"obsolete melon allergy (obsolete MONDO:0000784)","synonyms":[{"name":"Cucumis melo fruit allergy","type":"exact"}],"termid":"MONDO:0000784","xrefs":{"Monarch":{"xref_id":"0000784"}}}


id: MONDO:0700263
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Any type 1 interferonopathies in which the cause of the disease is a variation in the RNU7-1 gene. Individuals with variants in RNUF7-1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome.","direct_ancestors":[{"relation_name":"is_a","term_name":"hereditary disorder of connective tissue","termid":"MONDO:0023603"},{"relation_name":"is_a","term_name":"type 1 interferonopathy","termid":"MONDO:0700264"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNU7-1-related type 1 interferonopathy","termid":"MONDO:0700263","xrefs":{"Monarch":{"xref_id":"0700263"}}}


id: GO:0004417
data:
  {"annotated_genes":["SJAG_00381"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[65998],"is_not":false,"summary":null,"term":"GO:0004417"}]},"cv_name":"molecular_function","definition":"Catalysis of the reaction: 5-(2-hydroxyethyl)-4-methylthiazole + ATP = 4-methyl-5-(2-phosphoethyl)-thiazole + ADP + 2 H+.","definition_xrefs":["RHEA:24212","EC:2.7.1.50"],"direct_ancestors":[{"relation_name":"is_a","term_name":"kinase activity","termid":"GO:0016301"},{"relation_name":"is_a","term_name":"phosphotransferase activity, alcohol group as acceptor","termid":"GO:0016773"}],"gene_count":1,"genes_by_uniquename":{"SJAG_00381":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0016740"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0016301"}],"interesting_parent_ids":["GO:0003824","GO:0003674","GO:0016301","GO:0016740"],"is_obsolete":false,"name":"hydroxyethylthiazole kinase activity","references_by_uniquename":{"GO_REF:0000003":null},"secondary_identifiers":["MetaCyc:THIAZOLSYN3-RXN","KEGG_REACTION:R04448"],"synonyms":[{"name":"4-methyl-5-(beta-hydroxyethyl)thiazole kinase activity","type":"related"},{"name":"ATP:4-methyl-5-(2-hydroxyethyl)thiazole 2-phosphotransferase activity","type":"related"},{"name":"hydroxyethylthiazole kinase (phosphorylating)","type":"related"}],"termid":"GO:0004417","terms_by_termid":{"GO:0004417":null}}


id: PBO:0046794
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"coagulation factor II thrombin receptor","termid":"PBO:0046794"}


id: GO:0014803
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"The region between the inner and outer lipid bilayers of the longitudinal sarcoplasmic reticulum envelope. The longitudinal sarcoplasmic reticulum lumen is continuous with the lumen contained within the terminal cisternae.","definition_xrefs":["GOC:mtg_muscle"],"direct_ancestors":[{"relation_name":"is_a","term_name":"sarcoplasmic reticulum lumen","termid":"GO:0033018"},{"relation_name":"part_of","term_name":"longitudinal sarcoplasmic reticulum","termid":"GO:0014801"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"part_of","termid":"GO:0005737"},{"rel_name":"part_of","termid":"GO:0005783"},{"rel_name":"is_a","termid":"GO:0005575"}],"interesting_parent_ids":["GO:0005575","GO:0005737","GO:0005783"],"is_obsolete":false,"name":"longitudinal sarcoplasmic reticulum lumen","termid":"GO:0014803"}


id: GO:0071400
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 an oleic acid stimulus.","definition_xrefs":["GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"response to oleic acid","termid":"GO:0034201"},{"relation_name":"is_a","term_name":"cellular response to fatty acid","termid":"GO:0071398"}],"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 oleic acid","synonyms":[{"name":"cellular response to oleate","type":"exact"}],"termid":"GO:0071400"}


id: PR:Q9P7H5
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- cox24 gene.","definition_xrefs":["UniProtKB:Q9P7H5","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":"mitochondrial mRNA-processing protein cox24 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAC1782.04","synonyms":[{"name":"Spom972h-cox24","type":"exact"}],"termid":"PR:Q9P7H5"}


id: PBO:0055141
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 2560","termid":"PBO:0055141"}


id: GO:0120545
data:
  {"annotated_genes":["SJAG_00871","SJAG_02061","SJAG_01762","SJAG_03567","SJAG_02558","SJAG_05372","SJAG_05193","SJAG_04772","SJAG_02242","SJAG_01221","SJAG_03682","SJAG_16455","SJAG_03193","SJAG_03923","SJAG_00857","SJAG_01152","SJAG_04372","SJAG_01499","SJAG_04650","SJAG_04081","SJAG_00887","SJAG_02294","SJAG_01182","SJAG_04183","SJAG_00995","SJAG_02199","SJAG_03886","SJAG_04210","SJAG_03898","SJAG_05025","SJAG_02879","SJAG_00583","SJAG_03206","SJAG_02686","SJAG_02348","SJAG_05276","SJAG_04064","SJAG_01953","SJAG_03077","SJAG_01643","SJAG_03832","SJAG_00786","SJAG_03479","SJAG_02822","SJAG_04355","SJAG_04230","SJAG_03533","SJAG_05105","SJAG_02200","SJAG_06597","SJAG_01677","SJAG_00986","SJAG_04974","SJAG_04480","SJAG_03157","SJAG_00898","SJAG_03036","SJAG_02835","SJAG_04669","SJAG_01315","SJAG_02287","SJAG_05295","SJAG_02991","SJAG_00597","SJAG_02382","SJAG_03897","SJAG_06642","SJAG_05353","SJAG_05173","SJAG_02690","SJAG_01354","SJAG_04816","SJAG_00798","SJAG_04118","SJAG_00884","SJAG_03780","SJAG_01644","SJAG_00616","SJAG_04589","SJAG_03495","SJAG_02295","SJAG_03730"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[113257,111259,113259,73807,78470,71125,70668,74969,114592,79795,75105,78026,113255,78321,113256],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0043138"},{"annotations":[115585,106746,107559],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0033679"},{"annotations":[74391],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0034458"},{"annotations":[92518,58928,77195],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0043139"},{"annotations":[112831,100209],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0033678"},{"annotations":[100210],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0032574"},{"annotations":[73149,72379,77042,76648,89519],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0003678"},{"annotations":[72995,70802],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0003917"},{"annotations":[59255,68683],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0003918"},{"annotations":[113699,103497,112835,116218],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1990814"},{"annotations":[118492,79202,90145],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0036121"},{"annotations":[79205],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0061749"},{"annotations":[78325,78473,71128,79799],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0009378"},{"annotations":[70574],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0004386"},{"annotations":[67883,88122,60572,60172,72187,75665,103848,57177,74310,65373,100958,99663,80729,79057,75931,103448,61581,69645,115730,116667,118974,57677,107594,106101,58854,79568,79953,96333,58058,74469,79390,62544,108106,76470,72163,101730,75920,75789,72358,63861,77515],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0003724"},{"annotations":[107622],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0033592"},{"annotations":[115589,70292,109396,107562],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1990518"},{"annotations":[73810,64063,74972,78931,112840,73624],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0017116"}]},"cv_name":"molecular_function","definition":"Catalysis of a reaction that alters the conformation of a nucleic acid.","definition_xrefs":["EC:5.6.2.-"],"direct_ancestors":[{"relation_name":"is_a","term_name":"macromolecular conformation isomerase 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acid conformation isomerase activity","references_by_uniquename":{"GO_REF:0000002":null,"GO_REF:0000003":null,"GO_REF:0000033":null,"GO_REF:0000104":null,"GO_REF:0000107":null},"termid":"GO:0120545","terms_by_termid":{"GO:0003678":null,"GO:0003724":null,"GO:0003917":null,"GO:0003918":null,"GO:0004386":null,"GO:0009378":null,"GO:0017116":null,"GO:0032574":null,"GO:0033592":null,"GO:0033678":null,"GO:0033679":null,"GO:0034458":null,"GO:0036121":null,"GO:0043138":null,"GO:0043139":null,"GO:0061749":null,"GO:1990518":null,"GO:1990814":null}}


id: MONDO:0016195
data:
  {"annotated_genes":["SJAG_02431","SJAG_03703"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[86235,86234],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0008409"},{"annotations":[85613,85614],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0008050"}]},"cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"qualitative or quantitative protein defects in neuromuscular diseases","termid":"MONDO:0016139"},{"relation_name":"is_a","term_name":"hereditary neurological disease","termid":"MONDO:0100545"}],"gene_count":2,"genes_by_uniquename":{"SJAG_02431":null,"SJAG_03703":null},"genotype_count":0,"is_obsolete":false,"name":"qualitative or quantitative defects of beta-myosin heavy chain (MYH7)","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["UMLS:C5680832","Orphanet:209185","GARD:20434","MEDGEN:1842636"],"termid":"MONDO:0016195","terms_by_termid":{"MONDO:0008050":null,"MONDO:0008409":null},"xrefs":{"Monarch":{"xref_id":"0016195"}}}


id: PBO:0030980
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-abnormal_histone_H3-K9_trimethylation_at_centromere_inner_repeat","termid":"PBO:0030980"}


id: PBO:0028569
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-decreased_nucleotide-excision_repair_during_cellular_response_to_UV","termid":"PBO:0028569"}


id: GO:0018644
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: toluene + H+ + NADH + O2 = 2-hydroxytoluene + H2O + NAD+.","definition_xrefs":["RHEA:20349"],"direct_ancestors":[{"relation_name":"is_a","term_name":"oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen","termid":"GO:0016709"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0016491"}],"interesting_parent_ids":["GO:0003674","GO:0003824","GO:0016491"],"is_obsolete":false,"name":"toluene 2-monooxygenase activity","secondary_identifiers":["EC:1.14.13.243","UM-BBD_enzymeID:r0260","MetaCyc:TOLUENE-2-MONOOXYGENASE-RXN"],"termid":"GO:0018644"}


id: PBO:0072354
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein S26 pseudogene 40","termid":"PBO:0072354"}


id: GO:0005479
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"OBSOLETE. (Was not defined before being made obsolete).","definition_xrefs":["GOC:go_curators"],"gene_count":0,"genotype_count":0,"name":"obsolete vacuolar assembly (obsolete GO:0005479)","synonyms":[{"name":"vacuolar assembly","type":"exact"}],"termid":"GO:0005479"}


id: MONDO:0019249
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.","definition_xrefs":["NCIT:C61259"],"direct_ancestors":[{"relation_name":"is_a","term_name":"lysosomal storage disease","termid":"MONDO:0002561"},{"relation_name":"is_a","term_name":"developmental anomaly of metabolic origin","termid":"MONDO:0015327"},{"relation_name":"is_a","term_name":"inborn carbohydrate metabolic disorder","termid":"MONDO:0019214"},{"relation_name":"is_a","term_name":"mucopolysaccharidosis or mucopolysaccharidosis-like disorder","termid":"MONDO:0100365"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0037792"},{"rel_name":"is_a","termid":"MONDO:0002561"},{"rel_name":"is_a","termid":"MONDO:0005066"}],"interesting_parent_ids":["MONDO:0005066","MONDO:0037792","MONDO:0002561"],"is_obsolete":false,"name":"mucopolysaccharidosis","secondary_identifiers":["OMIMPS:607014","SCTID:11380006","MEDGEN:7733","GARD:7065","DOID:12798","MESH:D009083","NORD:1461","UMLS:C0026703","MedDRA:10028093","Orphanet:79213","icd11.foundation:1596128696","ICD9:277.5"],"synonyms":[{"name":"MPS","type":"related"},{"name":"Mucopolysaccharidoses","type":"exact"},{"name":"mucopolysaccharidoses","type":"exact"},{"name":"mucopolysaccharidosis","type":"exact"}],"termid":"MONDO:0019249","xrefs":{"Monarch":{"xref_id":"0019249"}}}


id: GO:0090382
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"A process that is carried out at the cellular level which results in the arrangement of constituent parts of a phagosome within a cell. Phagosome maturation begins with endocytosis and formation of the early phagosome and ends with the formation of the hybrid organelle, the phagolysosome.","definition_xrefs":["GOC:tb","GOC:kmv"],"direct_ancestors":[{"relation_name":"is_a","term_name":"organelle organization","termid":"GO:0006996"}],"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":"phagosome maturation","termid":"GO:0090382"}


id: PBO:0040233
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"activating transcription factor 5","termid":"PBO:0040233"}


id: PBO:0070590
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein L7a pseudogene 56","termid":"PBO:0070590"}


id: MOD:01432
data:
  {"annotation_feature_type":"gene","cv_name":"PSI-MOD","definition":"A protein modification that effectively converts an L-leucine residue to a (2S,4S)-4,5-dihydroxyleucine.","definition_xrefs":["RESID:AA0446","ChEBI:141819","PubMed:3718926"],"direct_ancestors":[{"relation_name":"is_a","term_name":"dihydroxylated leucine","termid":"MOD:01412"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"(2S,4S)-4,5-dihydroxyleucine","synonyms":[{"name":"(2S,4S)-2-amino-4,5-dihydroxy-4-methylpentanoic acid","type":"exact"},{"name":"(2S,4S)-4,5-dihydroxyleucine","type":"exact"},{"name":"(4S)-4,5-dihydroxyleucine","type":"exact"},{"name":"MOD_RES (4S)-4,5-dihydroxyleucine","type":"exact"},{"name":"gamma,delta-dihydroxyleucine","type":"exact"}],"termid":"MOD:01432"}


id: MONDO:0009385
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":"hyperleucine-Isoleucinemia","secondary_identifiers":["SCTID:7046009","UMLS:C0268574","MESH:C562674","OMIM:238340","MEDGEN:82821"],"synonyms":[{"name":"hyperleucine-Isoleucinemia","type":"exact"}],"termid":"MONDO:0009385","xrefs":{"Monarch":{"xref_id":"0009385"}}}


id: SO:0002246
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"A partially_duplicated_transcript where the 3' end of the transcript is duplicated.","direct_ancestors":[{"relation_name":"is_a","term_name":"partially_duplicated_transcript","termid":"SO:0002244"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"three_prime_duplicated_transcript","synonyms":[{"name":"3' duplicated transcript","type":"exact"},{"name":"three prime duplicated transcript","type":"exact"},{"name":"three prime partially duplicated transcript","type":"exact"}],"termid":"SO:0002246"}


id: GO:0097096
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process in which any suture between facial bones is generated and organized.","definition_xrefs":["Wikipedia:Head_and_neck_anatomy#Musculoskeletal_system","GOC:sl","GOC:pr","Wikipedia:Cranial_sutures"],"direct_ancestors":[{"relation_name":"is_a","term_name":"craniofacial suture morphogenesis","termid":"GO:0097094"}],"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":"facial suture morphogenesis","termid":"GO:0097096"}


id: PR:Q10361
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- etp1 gene.","definition_xrefs":["UniProtKB:Q10361","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":"electron transfer protein 1, mitochondrial (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAC22E12.10c","synonyms":[{"name":"Spom972h-etp1","type":"exact"}],"termid":"PR:Q10361"}


id: GO:0047058
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: 3-hydroxy-2-methyl-3-phytyl-2,3-dihydronaphthoquinone + oxidized dithiothreitol + H2O = 2,3-epoxy-2,3-dihydro-2-methyl-3-phytyl-1,4-naphthoquinone + 1,4-dithiothreitol.","definition_xrefs":["RHEA:21560"],"direct_ancestors":[{"relation_name":"is_a","term_name":"oxidoreductase activity, acting on CH or CH2 groups, disulfide as acceptor","termid":"GO:0016728"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0016491"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0003824","GO:0016491","GO:0003674"],"is_obsolete":false,"name":"vitamin-K-epoxide reductase (warfarin-insensitive) activity","secondary_identifiers":["EC:1.17.4.5","MetaCyc:1.1.4.2-RXN"],"synonyms":[{"name":"vitamin K 2,3-epoxide reductase activity","type":"related"}],"termid":"GO:0047058"}


id: MOD:01412
data:
  {"annotation_feature_type":"gene","cv_name":"PSI-MOD","definition":"A protein modification that effectively converts an L-leucine residue to a dihydroxylated leucine.","definition_xrefs":["PubMed:18688235"],"direct_ancestors":[{"relation_name":"is_a","term_name":"dihydroxylated residue","termid":"MOD:00428"},{"relation_name":"is_a","term_name":"hydroxylated leucine","termid":"MOD:01410"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"dihydroxylated leucine","synonyms":[{"name":"Hy2Leu","type":"exact"}],"termid":"MOD:01412"}


id: PBO:0003239
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"GTP binding protein Gtp1 (predicted)","termid":"PBO:0003239"}


id: GO:0102528
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"OBSOLETE. Catalysis of the reaction: S-adenosyl-L-methionine + 7,8,4'-trihydroxyflavone = H+ + S-adenosyl-L-homocysteine + 7,4'-dihydroxy, 8-methoxyflavone.","definition_xrefs":["GOC:pz"],"gene_count":0,"genotype_count":0,"name":"obsolete 7,8,4'-trihydroxyflavone methyltransferase activity (obsolete GO:0102528)","termid":"GO:0102528"}


id: GO:0004145
data:
  {"annotated_genes":["SJAG_03288","SJAG_02296"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[87751,100946],"is_not":false,"summary":null,"term":"GO:0004145"}]},"cv_name":"molecular_function","definition":"Catalysis of the reaction: acetyl-CoA + an alkane-alpha,omega-diamine = CoA + an N-acetyldiamine.","definition_xrefs":["EC:2.3.1.57"],"direct_ancestors":[{"relation_name":"is_a","term_name":"N-acetyltransferase activity","termid":"GO:0008080"}],"gene_count":2,"genes_by_uniquename":{"SJAG_02296":null,"SJAG_03288":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0016746"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0016740"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0016746","GO:0003824","GO:0003674","GO:0016740"],"is_obsolete":false,"name":"diamine N-acetyltransferase activity","references_by_uniquename":{"GO_REF:0000107":null},"secondary_identifiers":["Reactome:R-HSA-351207","MetaCyc:DIAMACTRANS-RXN","Reactome:R-HSA-351208","RHEA:25181"],"synonyms":[{"name":"acetyl-CoA:alkane-alpha,omega-diamine N-acetyltransferase activity","type":"related"},{"name":"acetyl-coenzyme A-1,4-diaminobutane N-acetyltransferase activity","type":"narrow"},{"name":"diamine acetyltransferase activity","type":"exact"},{"name":"putrescine (diamine)-acetylating enzyme activity","type":"narrow"},{"name":"putrescine N-acetyltransferase activity","type":"narrow"},{"name":"putrescine acetylase activity","type":"narrow"},{"name":"putrescine acetyltransferase activity","type":"narrow"},{"name":"spermidine N(1)-acetyltransferase activity","type":"narrow"},{"name":"spermidine N1-acetyltransferase activity","type":"related"},{"name":"spermidine acetyltransferase activity","type":"narrow"},{"name":"spermidine/spermine N1-acetyltransferase activity","type":"related"},{"name":"spermine N(1)-acetyltransferase","type":"narrow"},{"name":"spermine N-acetyltransferase","type":"related"},{"name":"spermine acetyltransferase","type":"narrow"}],"termid":"GO:0004145","terms_by_termid":{"GO:0004145":null}}


id: MONDO:0003847
data:
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id: PBO:0070156
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U7 small nuclear 70 pseudogene","termid":"PBO:0070156"}


id: MONDO:0020201
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete conjunctival telangiectasia (obsolete MONDO:0020201)","secondary_identifiers":["HP:0000524","Orphanet:98613","MedDRA:10072143"],"synonyms":[{"name":"conjunctival telangiectasia","type":"exact"},{"name":"obsolete conjunctival telangiectasia (disease)","type":"exact"}],"termid":"MONDO:0020201","xrefs":{"Monarch":{"xref_id":"0020201"}}}


id: GO:0099051
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The membrane scission process that is the final step in the formation of an endocytic vesicle: separation from the plasma membrane.","definition_xrefs":["PMID:21779028"],"direct_ancestors":[{"relation_name":"is_a","term_name":"vesicle scission","termid":"GO:0099050"},{"relation_name":"part_of","term_name":"endocytosis","termid":"GO:0006897"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0061024"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"part_of","termid":"GO:0016192"},{"rel_name":"part_of","termid":"GO:0006810"}],"interesting_parent_ids":["GO:0006810","GO:0061024","GO:0008150","GO:0016192"],"is_obsolete":false,"name":"vesicle scission involved in endocytosis","termid":"GO:0099051"}


id: PBO:0067619
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, 7SL, cytoplasmic 791, pseudogene","termid":"PBO:0067619"}


id: GO:0018848
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"OBSOLETE. Catalysis of the reaction: pinocarveol = carveol.","definition_xrefs":["UM-BBD_reactionID:r0715"],"gene_count":0,"genotype_count":0,"name":"obsolete pinocarveol isomerase activity (obsolete GO:0018848)","termid":"GO:0018848"}


id: PBO:0029015
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-increased_centromeric_outer_repeat_transcript-derived_siRNA_level","termid":"PBO:0029015"}


id: MONDO:1010765
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Vitiligo that occurs in dog.","definition_xrefs":["MONDO:patterns/nonhuman_disease"],"direct_ancestors":[{"relation_name":"is_a","term_name":"vitiligo, non-human animal","termid":"MONDO:1010136"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"vitiligo, dog","secondary_identifiers":["OMIA:001055-9615"],"termid":"MONDO:1010765","xrefs":{"Monarch":{"xref_id":"1010765"}}}


id: PBO:0111836
data:
  {"annotation_feature_type":"gene","cv_name":"pombase_family_or_domain","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"SUMO interaction motif","termid":"PBO:0111836"}


id: GO:0098969
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The directed movement of neurotransmitter receptor to the postsynaptic membrane in transport vesicles.","definition_xrefs":["GOC:dos"],"direct_ancestors":[{"relation_name":"is_a","term_name":"receptor localization to synapse","termid":"GO:0097120"},{"relation_name":"is_a","term_name":"neurotransmitter receptor transport to plasma membrane","termid":"GO:0098877"},{"relation_name":"is_a","term_name":"regulation of postsynaptic membrane neurotransmitter receptor levels","termid":"GO:0099072"},{"relation_name":"is_a","term_name":"establishment of protein localization to postsynaptic membrane","termid":"GO:1903540"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0016192"},{"rel_name":"is_a","termid":"GO:0006810"},{"rel_name":"is_a","termid":"GO:0051179"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0006810","GO:0016192","GO:0051179","GO:0008150"],"is_obsolete":false,"name":"neurotransmitter receptor transport to postsynaptic membrane","termid":"GO:0098969"}


id: PBO:0081775
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"zinc finger protein 705C, pseudogene","termid":"PBO:0081775"}


id: MONDO:0031257
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A rare pulmonary condition characterized by non-cardiogenic pulmonary edema occurring in otherwise healthy individuals within days of an ascent above 2500-3000 m. Early symptoms include exertional dyspnea, non-productive cough, chest tightness, and reduced exercise performance, followed by dyspnea at rest and possibly orthopnea, as well as gurgling in the chest and pink frothy sputum in advanced cases. Clinical signs are cyanosis, tachypnea, tachycardia, crackles or wheezing, and elevated body temperature (generally not exceeding 38.5°C). Signs of concomitant high-altitude cerebral edema may also be observed. Chest x-rays typically show patchy opacities predominantly in the right middle lobe.","definition_xrefs":["Orphanet:330012"],"direct_ancestors":[{"relation_name":"is_a","term_name":"pulmonary edema","termid":"MONDO:0006932"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"high altitude pulmonary edema","secondary_identifiers":["MEDGEN:137935","GARD:21502","UMLS:C0340100"],"termid":"MONDO:0031257","xrefs":{"Monarch":{"xref_id":"0031257"}}}


id: GO:0006325
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id: GO:0015905
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The directed movement of bicyclomycin across a lipid bilayer, from one side of a membrane to the other. Bicyclomycin (or bicozamycin) is an antibacterial drug often used as a livestock feed additive.","definition_xrefs":["PMID:20067529"],"direct_ancestors":[{"relation_name":"is_a","term_name":"transmembrane transport","termid":"GO:0055085"},{"relation_name":"is_a","term_name":"nitrogen compound transport","termid":"GO:0071705"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0006810"},{"rel_name":"is_a","termid":"GO:0051179"},{"rel_name":"is_a","termid":"GO:0055085"}],"interesting_parent_ids":["GO:0055085","GO:0008150","GO:0051179","GO:0006810"],"is_obsolete":false,"name":"bicyclomycin transmembrane transport","synonyms":[{"name":"bicyclomycin transport","type":"broad"}],"termid":"GO:0015905"}


id: PBO:0066135
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribonucleoprotein, PTB binding 2","termid":"PBO:0066135"}


id: PR:Q09905
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is encoded by the Schizosaccharomyces pombe 972h- aps3 gene.","definition_xrefs":["PRO:DAN"],"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":"AP-3 complex subunit sigma (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAC30D11.05","secondary_identifiers":["UniProtKB:Q09905"],"synonyms":[{"name":"AP-3 complex sigma3A subunit (Schizosaccharomyces pombe 972h-)","type":"exact"},{"name":"Spom972h-aps3","type":"exact"},{"name":"adaptor-related protein complex 3 subunit sigma (Schizosaccharomyces pombe 972h-)","type":"exact"},{"name":"clathrin-associated/assembly/adaptor protein, small 3 (Schizosaccharomyces pombe 972h-)","type":"exact"},{"name":"sigma-adaptin 3A (Schizosaccharomyces pombe 972h-)","type":"exact"},{"name":"sigma3-adaptin (Schizosaccharomyces pombe 972h-)","type":"exact"}],"termid":"PR:Q09905"}


id: PBO:0087560
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Subunit of signal peptidase complex; complex catalyzes cleavage of N-terminal signal sequences of proteins targeted to the secretory pathway; inhibits SRP-independent translocation into the ER with STE24; homologous to mammalian SPC25; other members of the complex are Spc1p, Spc1p, and Sec11p","termid":"PBO:0087560"}


id: PBO:0069983
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U6 small nuclear 1278, pseudogene","termid":"PBO:0069983"}


id: MONDO:0009008
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"hereditary disease","termid":"MONDO:0003847"},{"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":"heart defect - tongue hamartoma - polysyndactyly syndrome","secondary_identifiers":["DOID:0111591","MEDGEN:341804","OMIM:217085","MESH:C535849","UMLS:C1857587","GARD:4166","Orphanet:1338"],"synonyms":[{"name":"CHDTHP","type":"related"},{"name":"Orstavik Lindemann Solberg syndrome","type":"related"},{"name":"Ostravik-Lindemann-Solberg syndrome","type":"exact"},{"name":"congenital heart defects, hamartomas of tongue, and polysyndactyly","type":"related"},{"name":"heart defect - tongue hamartoma - polysyndactyly syndrome","type":"exact"},{"name":"heart defect, tongue hamartoma and polysyndactyly","type":"related"}],"termid":"MONDO:0009008","xrefs":{"Monarch":{"xref_id":"0009008"}}}


id: GO:0051280
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents, or reduces the frequency, rate or extent of the release into the cytosolic compartment of calcium ions sequestered in the endoplasmic reticulum or mitochondria.","definition_xrefs":["GOC:ai"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of release of sequestered calcium ion into cytosol","termid":"GO:0051279"},{"relation_name":"is_a","term_name":"positive regulation of sequestering of calcium ion","termid":"GO:0051284"},{"relation_name":"is_a","term_name":"negative regulation of calcium ion transmembrane transport","termid":"GO:1903170"},{"relation_name":"negatively_regulates","term_name":"release of sequestered calcium ion into cytosol","termid":"GO:0051209"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"negatively_regulates","termid":"GO:0006810"},{"rel_name":"negatively_regulates","termid":"GO:0055085"},{"rel_name":"regulates","termid":"GO:0006810"},{"rel_name":"regulates","termid":"GO:0055085"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0006810","GO:0008150","GO:0055085"],"is_obsolete":false,"name":"negative regulation of release of sequestered calcium ion into cytosol","synonyms":[{"name":"down regulation of release of sequestered calcium ion into cytosol","type":"exact"},{"name":"down-regulation of release of sequestered calcium ion into cytosol","type":"exact"},{"name":"downregulation of release of sequestered calcium ion into cytosol","type":"exact"},{"name":"inhibition of release of sequestered calcium ion into cytosol","type":"narrow"},{"name":"negative regulation of calcium ion (Ca2+) mobilization","type":"broad"},{"name":"negative regulation of calcium mobilization","type":"broad"},{"name":"negative regulation of cytoplasmic release of sequestered calcium ion (Ca2+)","type":"broad"},{"name":"negative regulation of cytoplasmic release of stored calcium ion (Ca2+)","type":"broad"},{"name":"negative regulation of cytosolic release of sequestered calcium ion (Ca2+)","type":"exact"},{"name":"negative regulation of cytosolic release of stored calcium ion (Ca2+)","type":"exact"},{"name":"negative regulation of release of sequestered calcium ion (Ca2+)","type":"broad"},{"name":"negative regulation of release of sequestered calcium ion into cytoplasm","type":"broad"},{"name":"negative regulation of release of stored calcium ion (Ca2+)","type":"broad"},{"name":"negative regulation of release of stored calcium ion (Ca2+) into cytoplasm","type":"broad"},{"name":"negative regulation of release of stored calcium ion (Ca2+) into cytosol","type":"exact"}],"termid":"GO:0051280"}


id: GO:0016119
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways involving carotenes, hydrocarbon carotenoids.","definition_xrefs":["ISBN:0198547684"],"direct_ancestors":[{"relation_name":"is_a","term_name":"terpene metabolic process","termid":"GO:0042214"}],"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":"carotene metabolic process","synonyms":[{"name":"carotene metabolism","type":"exact"}],"termid":"GO:0016119"}


