# terms

id: FYPO:0001581
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 vacuoles are more visible (usually by microscopy) than normal. A vacuolated phenotype may be due to the presence of more vacuoles in a cell than normal, or to vacuoles located nearer the cell surface (and hence more visible) than normal.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal subcellular component during vegetative growth","termid":"FYPO:0001322"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0001320"}],"interesting_parent_ids":["FYPO:0001320","FYPO:0000002","FYPO:0001985"],"is_obsolete":false,"name":"vacuolated","synonyms":[{"name":"vacuolated during mitotic cell cycle","type":"related"},{"name":"vacuolated during vegetative growth","type":"exact"}],"termid":"FYPO:0001581"}


id: PBO:0080743
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"X active specific transcript","termid":"PBO:0080743"}


id: FYPO:0007450
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cell phenotype observed in the vegetative growth phase of the life cycle in which a protein is localized to one or both cell tip(s), but remains there for a shorter time than normal.","definition_xrefs":["PomBase:mah","PMID:12789340","PMID:15809031"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal maintenance of protein location at cell tip during vegetative growth","termid":"FYPO:0005464"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0000138"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0001985"}],"interesting_parent_ids":["FYPO:0000002","FYPO:0000138","FYPO:0001320","FYPO:0001985","FYPO:0005447"],"is_obsolete":false,"name":"decreased maintenance of protein location in cell cortex of cell tip","synonyms":[{"name":"decreased maintenance of protein location in cell cortex of cell tip during mitotic cell cycle","type":"related"},{"name":"decreased maintenance of protein location in cell cortex of cell tip during vegetative growth","type":"exact"},{"name":"reduced maintenance of protein location in cell cortex of cell tip","type":"exact"}],"termid":"FYPO:0007450"}


id: PBO:0024475
data:
  {"annotation_feature_type":"gene","cv_name":"complementation","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"functionally complemented by human USB1","termid":"PBO:0024475"}


id: PBO:0039084
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"agouti related neuropeptide","termid":"PBO:0039084"}


id: FYPO:0001473
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"An increased chemical resistance phenotype observed in the vegetative growth phase of the life cycle in which cells grow in the presence of a higher concentration of tacrolimus than normal when the cells are subject to salt stress.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"resistance to tacrolimus","termid":"FYPO:0001379"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000003"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0000139"},{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0002682"}],"interesting_parent_ids":["FYPO:0005447","FYPO:0000003","FYPO:0001985","FYPO:0002682","FYPO:0000139"],"is_obsolete":false,"name":"resistance to tacrolimus during salt stress","synonyms":[{"name":"resistance to FK506 during salt stress","type":"exact"},{"name":"resistance to salt stress and tacrolimus","type":"exact"},{"name":"resistance to tacrolimus and salt stress","type":"exact"},{"name":"resistance to tacrolimus during salt stress during mitotic cell cycle","type":"related"},{"name":"resistance to tacrolimus during salt stress during vegetative growth","type":"exact"},{"name":"resistant to tacrolimus during salt stress","type":"exact"}],"termid":"FYPO:0001473"}


id: PBO:0070182
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U7 small nuclear 97 pseudogene","termid":"PBO:0070182"}


id: MONDO:0022740
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":"Christian Johnson angenieta syndrome","termid":"MONDO:0022740","xrefs":{"Monarch":{"xref_id":"0022740"}}}


id: SO:0001813
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"A polypeptide region that targets a polypeptide to the vacuole.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"peptide_localization_signal","termid":"SO:0001527"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"SO:0000839"}],"interesting_parent_ids":["SO:0000839"],"is_obsolete":false,"name":"vacuolar_sorting_signal","synonyms":[{"name":"vacuolar sorting signal","type":"exact"}],"termid":"SO:0001813"}


id: GO:0015256
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"OBSOLETE. This term was not defined before being made obsolete.","definition_xrefs":["GOC:mtg_transport","ISBN:0815340729"],"gene_count":0,"genotype_count":0,"name":"obsolete monocarboxylate channel activity (obsolete GO:0015256)","synonyms":[{"name":"monocarboxylate channel activity","type":"exact"}],"termid":"GO:0015256"}


id: MONDO:1011464
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Amyloidosis that occurs in black-footed cat.","definition_xrefs":["MONDO:patterns/nonhuman_disease"],"direct_ancestors":[{"relation_name":"is_a","term_name":"amyloidosis, non-human animal","termid":"MONDO:1011415"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"amyloidosis, black-footed cat","secondary_identifiers":["OMIA:000037-61379"],"termid":"MONDO:1011464","xrefs":{"Monarch":{"xref_id":"1011464"}}}


id: PBO:0004001
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ubiquitin-like protein modifier Ned8","termid":"PBO:0004001"}


id: PBO:0058143
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 4439","termid":"PBO:0058143"}


id: FYPO:0005348
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 spindle pole body (SPB)-led chromosome movement is abnormal. SPB-led chromosome movement is a microtubule-based process in which chromosomes migrate as a result of rapid spindle pole body (SPB) and centrosome oscillations during mitotic interphase.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal mitotic spindle pole body localization","termid":"FYPO:0000534"},{"relation_name":"is_a","term_name":"abnormal microtubule-based movement during vegetative growth","termid":"FYPO:0005461"},{"relation_name":"is_a","term_name":"abnormal organelle localization","termid":"FYPO:0006329"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0000138"}],"interesting_parent_ids":["FYPO:0001320","FYPO:0000002","FYPO:0000138","FYPO:0001985","FYPO:0005447"],"is_obsolete":false,"name":"abnormal spindle pole body-led chromosome movement during mitotic interphase","synonyms":[{"name":"abnormal SPB-led chromosome movement during mitotic interphase","type":"exact"},{"name":"abnormal maintenance of SPB localization","type":"related"},{"name":"abnormal maintenance of mitotic spindle pole body localization","type":"related"},{"name":"abnormal mitotic SPB oscillation during mitotic interphase","type":"exact"},{"name":"abnormal mitotic spindle pole body movement during mitotic interphase","type":"exact"},{"name":"abnormal mitotic spindle pole body oscillation during mitotic interphase","type":"exact"},{"name":"abnormal spindle pole body-led chromosome movement during interphase of mitotic cell cycle","type":"related"},{"name":"abnormal spindle pole body-led chromosome movement during mitotic interphase during vegetative growth","type":"exact"},{"name":"increased spindle pole body-led chromosome movement during interphase of mitotic cell cycle","type":"related"}],"termid":"FYPO:0005348"}


id: MONDO:0021543
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A hemangioma that involves the gingiva.","definition_xrefs":["MONDO:patterns/location"],"direct_ancestors":[{"relation_name":"is_a","term_name":"hemangioma","termid":"MONDO:0006500"},{"relation_name":"is_a","term_name":"benign neoplasm of gum","termid":"MONDO:0021491"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"hemangioma of gingiva","secondary_identifiers":["ICD9:228.09","UMLS:C0582885","MEDGEN:108426","NCIT:C4831","SCTID:304990002"],"synonyms":[{"name":"angioma of gingiva","type":"exact"},{"name":"angioma of gum","type":"exact"},{"name":"angioma of the gingiva","type":"exact"},{"name":"angioma of the gum","type":"exact"},{"name":"gingiva hemangioma","type":"exact"},{"name":"gingival angioma","type":"exact"},{"name":"gingival hemangioma","type":"exact"},{"name":"gum angioma","type":"exact"},{"name":"gum hemangioma","type":"exact"},{"name":"hemangioma of gum","type":"exact"},{"name":"hemangioma of the gingiva","type":"exact"},{"name":"hemangioma of the gum","type":"exact"}],"termid":"MONDO:0021543","xrefs":{"Monarch":{"xref_id":"0021543"}}}


id: MONDO:0008936
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":"cerebellar ataxia and neurosensory deafness","secondary_identifiers":["UMLS:C1859304","MESH:C565869","MEDGEN:395224","OMIM:212850"],"synonyms":[{"name":"cerebellar ataxia and neurosensory deafness","type":"exact"}],"termid":"MONDO:0008936","xrefs":{"Monarch":{"xref_id":"0008936"}}}


id: PBO:0078309
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"tRNA-Asp (GTC) 5-1","termid":"PBO:0078309"}


id: FYPO:0000230
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cytokinesis phenotype observed in the vegetative growth phase of the life cycle in which the assembly and distribution of actin filaments and associated proteins does not occur normally, resulting in the formation of an abnormal actomyosin contractile ring in which actin is absent or mislocalized.","definition_xrefs":["PMID:19713940","PomBase:mah","GO:2000689"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal cytokinesis during vegetative growth","termid":"FYPO:0000032"},{"relation_name":"is_a","term_name":"abnormal actin filament organization during vegetative growth","termid":"FYPO:0000727"},{"relation_name":"is_a","term_name":"abnormal actomyosin contractile ring organization","termid":"FYPO:0004738"},{"relation_name":"part_of","term_name":"abnormal actomyosin contractile ring assembly","termid":"FYPO:0000161"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"part_of","termid":"FYPO:0000032"},{"rel_name":"is_a","termid":"FYPO:0004803"},{"rel_name":"is_a","termid":"FYPO:0000032"},{"rel_name":"part_of","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0000631"},{"rel_name":"part_of","termid":"FYPO:0001985"},{"rel_name":"part_of","termid":"FYPO:0004803"},{"rel_name":"part_of","termid":"FYPO:0000631"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"part_of","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0001320"}],"interesting_parent_ids":["FYPO:0004803","FYPO:0000002","FYPO:0001320","FYPO:0005447","FYPO:0001985","FYPO:0000631","FYPO:0000032"],"is_obsolete":false,"name":"abnormal actomyosin contractile ring actin filament organization","synonyms":[{"name":"abnormal actomyosin contractile ring actin filament organisation","type":"exact"},{"name":"abnormal actomyosin contractile ring actin filament organization during mitotic cell cycle","type":"related"},{"name":"abnormal actomyosin contractile ring actin filament organization during vegetative growth","type":"exact"},{"name":"abnormal cytokinetic contractile ring actin filament organization","type":"exact"},{"name":"abnormal mitotic contractile ring actin filament organization","type":"exact"}],"termid":"FYPO:0000230"}


id: PBO:0005283
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA-silencing factor Ers1","termid":"PBO:0005283"}


id: GO:0001601
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Combining with gut peptide YY to initiate a change in cell activity.","definition_xrefs":["PMID:9315606"],"direct_ancestors":[{"relation_name":"is_a","term_name":"neuropeptide Y receptor activity","termid":"GO:0004983"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0038023"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0038023","GO:0003674"],"is_obsolete":false,"name":"peptide YY receptor activity","termid":"GO:0001601"}


id: PBO:0049706
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"hyaluronan synthase 1","termid":"PBO:0049706"}


id: MONDO:0009801
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982.","definition_xrefs":["Orphanet:2769"],"direct_ancestors":[{"relation_name":"is_a","term_name":"syndromic disease","termid":"MONDO:0002254"},{"relation_name":"is_a","term_name":"skeletal dysplasia","termid":"MONDO:0018230"},{"relation_name":"is_a","term_name":"disorder of development or morphogenesis","termid":"MONDO:0021147"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"familial osteodysplasia, Anderson type","secondary_identifiers":["UMLS:C1850186","GARD:4136","icd11.foundation:107132680","OMIM:259250","MESH:C564923","MEDGEN:337990"],"synonyms":[{"name":"osteodysplasia familial Anderson type","type":"related"},{"name":"osteodysplasia, familial, Anderson type","type":"related"}],"termid":"MONDO:0009801","xrefs":{"Monarch":{"xref_id":"0009801"}}}


id: GO:0008513
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Enables the transfer of organic cations from one side of a membrane to the other, up the solute's concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction.","definition_xrefs":["GOC:curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"organic cation transmembrane transporter activity","termid":"GO:0015101"},{"relation_name":"is_a","term_name":"secondary active transmembrane transporter activity","termid":"GO:0015291"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0005215"},{"rel_name":"is_a","termid":"GO:0022857"}],"interesting_parent_ids":["GO:0003674","GO:0005215","GO:0022857"],"is_obsolete":false,"name":"secondary active organic cation transmembrane transporter activity","secondary_identifiers":["Reactome:R-HSA-549241","GO:0015354"],"synonyms":[{"name":"organic cation porter activity","type":"related"},{"name":"polyspecific organic cation transmembrane transporter activity","type":"narrow"}],"termid":"GO:0008513"}


id: PBO:0004544
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"nuclear pore associated protein Thp1-Sac3 complex subunit (predicted)","termid":"PBO:0004544"}


id: PBO:0072538
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein SA pseudogene 68","termid":"PBO:0072538"}


id: GO:0062045
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: L-lysine + pyruvate= epsilon-amino-alpha-ketocaproic acid (KAC) + alanine.","definition_xrefs":["PMID:28330936","PMID:27758894"],"direct_ancestors":[{"relation_name":"is_a","term_name":"transaminase activity","termid":"GO:0008483"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0016740"},{"rel_name":"is_a","termid":"GO:0016769"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0003674","GO:0016769","GO:0016740","GO:0003824"],"is_obsolete":false,"name":"L-lysine alpha-aminotransferase","termid":"GO:0062045"}


id: MONDO:0100352
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"paroxysmal dyskinesia","termid":"MONDO:0015427"},{"relation_name":"is_a","term_name":"episodic kinesigenic dyskinesia","termid":"MONDO:0044202"},{"relation_name":"is_a","term_name":"PRRT2-associated paroxysmal movement disorder","termid":"MONDO:0100556"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0003441"}],"interesting_parent_ids":["MONDO:0003441"],"is_obsolete":false,"name":"episodic kinesigenic dyskinesia 1","secondary_identifiers":["MEDGEN:1636366","MESH:C537180","DOID:0090053","ICD9:333.5","SCTID:609221008","UMLS:C4552000","OMIM:128200"],"synonyms":[{"name":"DYT-PRRT2","type":"related"},{"name":"EKD1","type":"related"},{"name":"PRRT2 episodic kinesigenic dyskinesia","type":"exact"},{"name":"PxMD-PRRT2","type":"exact"},{"name":"dystonia 10","type":"related"},{"name":"dystonia, familial paroxysmal","type":"related"},{"name":"episodic kinesigenic dyskinesia 1","type":"exact"},{"name":"episodic kinesigenic dyskinesia caused by mutation in PRRT2","type":"exact"},{"name":"episodic kinesigenic dyskinesia type 1","type":"exact"},{"name":"paroxysmal kinesigenic choreoathetosis","type":"related"},{"name":"paroxysmal kinesigenic dyskinesia","type":"related"}],"termid":"MONDO:0100352","xrefs":{"Monarch":{"xref_id":"0100352"}}}


id: SO:0000733
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"An attribute describing a located_sequence_feature.","definition_xrefs":["SO:ke"],"direct_ancestors":[{"relation_name":"is_a","term_name":"sequence_attribute","termid":"SO:0000400"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"feature_attribute","synonyms":[{"name":"feature attribute","type":"exact"}],"termid":"SO:0000733"}


id: GO:0034302
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process in which an akinete, a thick-walled (encysted) dormant cell derived from the enlargement of a vegetative cell, is formed. Akinetes typically have granular cytoplasm, are more resistant to environmental extremes than vegetative cells, and are characteristic of several groups of Cyanobacteria.","definition_xrefs":["GOC:ds","PMID:11948167","GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"asexual sporulation resulting in formation of a cellular spore","termid":"GO:0043936"}],"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":"akinete formation","termid":"GO:0034302"}


id: PBO:0027838
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-abnormal_protein_localization_to_cortical_microtubule_cytoskeleton","termid":"PBO:0027838"}


id: PBO:0045454
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"down-regulator of transcription 1","termid":"PBO:0045454"}


id: PBO:0079234
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"tetratricopeptide repeat domain 9","termid":"PBO:0079234"}


id: PBO:0043326
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"CDC like kinase 3","termid":"PBO:0043326"}


id: MONDO:0009661
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.","definition_xrefs":["Orphanet:583"],"direct_ancestors":[{"relation_name":"is_a","term_name":"syndromic disease","termid":"MONDO:0002254"},{"relation_name":"is_a","term_name":"eye disorder","termid":"MONDO:0005328"},{"relation_name":"is_a","term_name":"mucopolysaccharidosis","termid":"MONDO:0019249"},{"relation_name":"is_a","term_name":"lysosomal storage disease with skeletal involvement","termid":"MONDO:0800088"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0002561"},{"rel_name":"is_a","termid":"MONDO:0005328"},{"rel_name":"is_a","termid":"MONDO:0037792"},{"rel_name":"is_a","termid":"MONDO:0005066"}],"interesting_parent_ids":["MONDO:0037792","MONDO:0005066","MONDO:0005328","MONDO:0002561"],"is_obsolete":false,"name":"mucopolysaccharidosis type 6","secondary_identifiers":["NANDO:2200551","SCTID:69463008","NANDO:1200108","DOID:12800","SCTID:52677002","UMLS:C0026709","icd11.foundation:1288379621","GARD:7095","MEDGEN:44514","NCIT:C61264","OMIM:253200","MESH:D009087","NANDO:1200109","MedDRA:10056892","NANDO:1200110"],"synonyms":[{"name":"ARSB deficiency","type":"exact"},{"name":"ASB deficiency","type":"exact"},{"name":"Arsb deficiency","type":"related"},{"name":"MPS 6","type":"related"},{"name":"MPS VI","type":"related"},{"name":"MPS VI - Maroteaux-Lamy syndrome","type":"exact"},{"name":"MPS6","type":"exact"},{"name":"MPSVI","type":"exact"},{"name":"Maroteaux - Lamy syndrome","type":"exact"},{"name":"Maroteaux Lamy Syndrome","type":"exact"},{"name":"Maroteaux Lamy syndrome","type":"related"},{"name":"Maroteaux-Lamy disease","type":"exact"},{"name":"Maroteaux-Lamy syndrome","type":"exact"},{"name":"Mucopoly-saccharidosis type VI","type":"related"},{"name":"N-acetylgalactosamine 4-sulfatase deficiency","type":"exact"},{"name":"N-acetylgalactosamine-4-sulfatase deficiency","type":"related"},{"name":"arylsulfatase B deficiency","type":"exact"},{"name":"deficiency of N-acetylgalactosamine-4-sulfatase","type":"exact"},{"name":"mucopolysaccharidosis VI","type":"related"},{"name":"mucopolysaccharidosis type VI","type":"exact"},{"name":"mucopolysaccharidosis type VI (Maroteaux-Lamy)","type":"exact"}],"termid":"MONDO:0009661","xrefs":{"Monarch":{"xref_id":"0009661"}}}


id: MONDO:0010358
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Any X-linked hypophosphatemic rickets in which the cause of the disease is a mutation in the CLCN5 gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"X-linked recessive disease","termid":"MONDO:0020605"},{"relation_name":"is_a","term_name":"X-linked hypophosphatemic rickets","termid":"MONDO:0020720"},{"relation_name":"is_a","term_name":"abnormal mineralization disorder","termid":"MONDO:0800096"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"hypophosphatemic rickets, X-linked recessive","secondary_identifiers":["MEDGEN:335115","OMIM:300554","UMLS:C1845168","DOID:0080353","GARD:15011"],"synonyms":[{"name":"CLCN5 X-linked hypophosphatemic rickets","type":"exact"},{"name":"X-linked hypophosphatemic rickets caused by mutation in CLCN5","type":"exact"},{"name":"hypophosphatemic rickets, X-linked recessive","type":"exact"}],"termid":"MONDO:0010358","xrefs":{"Monarch":{"xref_id":"0010358"}}}


id: PR:O74389
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- mug176 gene.","definition_xrefs":["PRO:DNx","UniProtKB:O74389"],"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":"meiotically up-regulated gene 176 protein (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPBC3H7.14","synonyms":[{"name":"Spom972h-mug176","type":"exact"}],"termid":"PR:O74389"}


id: PATO:0001411
data:
  {"annotation_feature_type":"gene","cv_name":"quality","definition":"A structural quality inhering in a bearer by virtue of the bearer's having distinct structure.","definition_xrefs":["PATOC:GVG"],"direct_ancestors":[{"relation_name":"is_a","term_name":"structure","termid":"PATO:0000141"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"structured","termid":"PATO:0001411"}


id: MONDO:0021325
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A cancer that involves the thoracic part of esophagus.","definition_xrefs":["MONDO:patterns/location"],"direct_ancestors":[{"relation_name":"is_a","term_name":"esophageal cancer","termid":"MONDO:0007576"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0004335"},{"rel_name":"is_a","termid":"MONDO:0004992"}],"interesting_parent_ids":["MONDO:0004992","MONDO:0004335"],"is_obsolete":false,"name":"malignant neoplasm of thoracic esophagus","secondary_identifiers":["NCIT:C3532","MEDGEN:102268","SCTID:187723009","UMLS:C0153411","ICD9:150.1"],"synonyms":[{"name":"cancer of thoracic part of esophagus","type":"exact"},{"name":"cancer of thoracic part of oesophagus","type":"exact"},{"name":"malignant neoplasm of the thoracic esophagus","type":"exact"},{"name":"malignant neoplasm of the thoracic oesophagus","type":"exact"},{"name":"malignant neoplasm of thoracic part of esophagus","type":"exact"},{"name":"malignant neoplasm of thoracic part of oesophagus","type":"exact"},{"name":"malignant thoracic part of esophagus neoplasm","type":"exact"},{"name":"malignant thoracic part of oesophagus neoplasm","type":"exact"},{"name":"thoracic part of esophagus cancer","type":"exact"},{"name":"thoracic part of oesophagus cancer","type":"exact"}],"termid":"MONDO:0021325","xrefs":{"Monarch":{"xref_id":"0021325"}}}


id: MONDO:0009910
data:
  {"annotated_genes":["SJAG_04934"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[86496],"is_not":false,"summary":null,"term":"MONDO:0009910"}]},"cv_name":"mondo","definition":"Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism.","definition_xrefs":["Orphanet:3455"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"syndromic intellectual disability","termid":"MONDO:0000508"},{"relation_name":"is_a","term_name":"syndromic disease","termid":"MONDO:0002254"},{"relation_name":"is_a","term_name":"multiple congenital anomalies/dysmorphic syndrome-intellectual disability","termid":"MONDO:0015159"},{"relation_name":"is_a","term_name":"developmental anomaly of metabolic origin","termid":"MONDO:0015327"},{"relation_name":"is_a","term_name":"hereditary lipodystrophy","termid":"MONDO:0020087"},{"relation_name":"is_a","term_name":"progeria","termid":"MONDO:0020732"},{"relation_name":"is_a","term_name":"POLR3A-related disorder","termid":"MONDO:0700276"},{"relation_name":"is_a","term_name":"osteogenesis imperfecta and a reduction of bone mineral density.","termid":"MONDO:0800064"}],"gene_count":1,"genes_by_uniquename":{"SJAG_04934":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005497"},{"rel_name":"is_a","termid":"MONDO:0019303"},{"rel_name":"is_a","termid":"MONDO:0005066"},{"rel_name":"is_a","termid":"MONDO:0005093"}],"interesting_parent_ids":["MONDO:0005066","MONDO:0005093","MONDO:0019303","MONDO:0005497"],"is_obsolete":false,"name":"Wiedemann-Rautenstrauch syndrome","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["SCTID:238874008","UMLS:C0406586","MEDGEN:140806","MESH:C536423","DOID:0081333","GARD:330","NCIT:C121565","ICD9:259.8","OMIM:264090"],"synonyms":[{"name":"Wiedemann Rautenstrauch Syndrome","type":"exact"},{"name":"Wiedemann Rautenstrauch syndrome","type":"related"},{"name":"Wiedemann-Rautenstrauch syndrome","type":"exact"},{"name":"neonatal progeroid syndrome","type":"exact"},{"name":"progeroid syndrome neonatal","type":"related"},{"name":"progeroid syndrome, neonatal","type":"related"}],"termid":"MONDO:0009910","terms_by_termid":{"MONDO:0009910":null},"xrefs":{"Monarch":{"xref_id":"0009910"}}}


id: PR:O59718
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- nem1 gene.","definition_xrefs":["UniProtKB:O59718","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":"nuclear envelope morphology protein 1 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPBC3B8.10c","synonyms":[{"name":"Spom972h-nem1","type":"exact"}],"termid":"PR:O59718"}


id: MONDO:0014350
data:
  {"annotated_genes":["SJAG_04183"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[86736],"is_not":false,"summary":null,"term":"MONDO:0014350"}]},"cv_name":"mondo","definition":"Any Seckel syndrome in which the cause of the disease is a mutation in the DNA2 gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"Seckel syndrome","termid":"MONDO:0019342"},{"relation_name":"is_a","term_name":"primordial dwarfism and slender bone disorder","termid":"MONDO:0800063"}],"gene_count":1,"genes_by_uniquename":{"SJAG_04183":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0006025"}],"interesting_parent_ids":["MONDO:0006025"],"is_obsolete":false,"name":"Seckel syndrome 8","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["OMIM:615807","DOID:0070009","MEDGEN:856014","GARD:16013","UMLS:C3891452"],"synonyms":[{"name":"DNA2 Seckel syndrome","type":"exact"},{"name":"SCKL8","type":"exact"},{"name":"Seckel syndrome 8","type":"exact"},{"name":"Seckel syndrome caused by mutation in DNA2","type":"exact"},{"name":"Seckel syndrome type 8","type":"exact"}],"termid":"MONDO:0014350","terms_by_termid":{"MONDO:0014350":null},"xrefs":{"Monarch":{"xref_id":"0014350"}}}


id: MONDO:0013569
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.","definition_xrefs":["DOID:0110090","PMID:17935248","PMID:21473986"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"asphyxiating thoracic dystrophy 3","termid":"MONDO:0013127"},{"relation_name":"is_a","term_name":"Jeune syndrome","termid":"MONDO:0018770"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005240"}],"interesting_parent_ids":["MONDO:0005240"],"is_obsolete":false,"name":"short-rib thoracic dysplasia 7 with or without polydactyly","secondary_identifiers":["GARD:15756","Orphanet:498497","MEDGEN:481422","OMIM:614091","UMLS:C3279792"],"synonyms":[{"name":"SRPS5","type":"exact"},{"name":"SRTD7","type":"exact"},{"name":"short rib-polydactyly syndrome type 5","type":"exact"},{"name":"short rib-polydactyly syndrome type V","type":"exact"},{"name":"short rib-polydactyly syndrome, type 5","type":"exact"},{"name":"short-rib thoracic dysplasia 7 with or without polydactyly","type":"exact"}],"termid":"MONDO:0013569","xrefs":{"Monarch":{"xref_id":"0013569"}}}


id: GO:0051130
data:
  {"annotated_genes":["SJAG_00883","SJAG_00514","SJAG_00266","SJAG_02342","SJAG_03704","SJAG_02451","SJAG_03631","SJAG_03681","SJAG_03581","SJAG_02380","SJAG_04509","SJAG_03624","SJAG_00082","SJAG_03126","SJAG_01212","SJAG_03936","SJAG_00766","SJAG_02189","SJAG_02990","SJAG_04573","SJAG_05290","SJAG_00973","SJAG_00718","SJAG_02812","SJAG_02592","SJAG_05289","SJAG_02336","SJAG_00823","SJAG_04312","SJAG_02332","SJAG_02433","SJAG_01297","SJAG_03453","SJAG_04468","SJAG_03957","SJAG_03048","SJAG_01679","SJAG_03342","SJAG_02498","SJAG_03137","SJAG_04259","SJAG_01188","SJAG_03812","SJAG_04968","SJAG_02169","SJAG_03421","SJAG_03438","SJAG_00142","SJAG_01837","SJAG_01805","SJAG_03353","SJAG_02379","SJAG_04597","SJAG_04666","SJAG_03851","SJAG_00845","SJAG_05265","SJAG_01114","SJAG_04776","SJAG_01771","SJAG_01794","SJAG_00666"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[108333],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0010846"},{"annotations":[91048,112339,114654,99923,104234,114165,108620,107593,116288],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1902426"},{"annotations":[94529],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0140499"},{"annotations":[91053],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1903024"},{"annotations":[108931,109022],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:2000786"},{"annotations":[97955],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1901098"},{"annotations":[104040],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0045807"},{"annotations":[64783],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1903373"},{"annotations":[99296],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0031453"},{"annotations":[102716,89975,117064],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1905561"},{"annotations":[93806,91174,88213,111742,90193],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1902917"},{"annotations":[88535,106050],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:2001178"},{"annotations":[102191],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0031117"},{"annotations":[96079],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0090297"},{"annotations":[109249],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0090141"},{"annotations":[94743,90322],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1903501"},{"annotations":[113747,94914,110897,87855,94744],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1903473"},{"annotations":[117066,102720],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1903380"},{"annotations":[94133,107410,92748,118285,105537,113748,90194,106750,115861,78261],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0140281"},{"annotations":[102721,98029,94134,111752,115154,102447,100478],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0045842"},{"annotations":[90325,94745],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1902846"},{"annotations":[111813],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0110161"},{"annotations":[91511],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0090053"},{"annotations":[89385],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0010845"},{"annotations":[79906,90034],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0045899"},{"annotations":[110898,90326,102726,94137,87857],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0031031"},{"annotations":[110716,91512,94705],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0090055"},{"annotations":[107771],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0045876"},{"annotations":[97515],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0032215"},{"annotations":[112343],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1904595"},{"annotations":[68882,76830,66631],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0045905"},{"annotations":[110638,97956],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0061191"}]},"cv_name":"biological_process","definition":"Any process that activates or increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell structures, including the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope.","definition_xrefs":["GOC:ai"],"direct_ancestors":[{"relation_name":"is_a","term_name":"positive regulation of cellular process","termid":"GO:0048522"},{"relation_name":"is_a","term_name":"regulation of cellular component organization","termid":"GO:0051128"},{"relation_name":"positively_regulates","term_name":"cellular component 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regulation of cellular component organization","references_by_uniquename":{"GO_REF:0000033":null,"GO_REF:0000104":null,"GO_REF:0000107":null},"synonyms":[{"name":"activation of cell organization","type":"narrow"},{"name":"positive regulation of cell organisation","type":"exact"},{"name":"positive regulation of cellular component organization and biogenesis","type":"related"},{"name":"stimulation of cell organization","type":"narrow"},{"name":"up regulation of cell organization","type":"exact"},{"name":"up-regulation of cell organization","type":"exact"},{"name":"upregulation of cell 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id: PR:Q9UR39
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- hst4 gene.","definition_xrefs":["UniProtKB:Q9UR39","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":"NAD-dependent protein deacetylase hst4 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAC1783.04c","synonyms":[{"name":"Spom972h-hst4","type":"exact"},{"name":"homologous to SIR2 protein 4 (Schizosaccharomyces pombe 972h-)","type":"exact"},{"name":"regulatory protein SIR2 homolog 4 (Schizosaccharomyces pombe 972h-)","type":"exact"}],"termid":"PR:Q9UR39"}


id: MONDO:0007654
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":"genu valgum, st. Helena familial","secondary_identifiers":["MESH:C537685","UMLS:C1842052","MEDGEN:333980","OMIM:137370"],"synonyms":[{"name":"St. Helena familial genu valgum","type":"related"},{"name":"genu valgum, hereditary pubertal","type":"related"},{"name":"genu valgum, st Helena familial","type":"related"},{"name":"genu valgum, st. Helena familial","type":"exact"},{"name":"hereditary pubertal genu valgum","type":"related"},{"name":"severe 'knock-knees' and variable lesser malalignment at the elbows and wrists","type":"related"}],"termid":"MONDO:0007654","xrefs":{"Monarch":{"xref_id":"0007654"}}}


id: MONDO:0006816
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Any disorder of the joints.","definition_xrefs":["NCIT:C35760"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"bone inflammation disease","termid":"MONDO:0002614"},{"relation_name":"is_a","term_name":"skeletal system disorder","termid":"MONDO:0005172"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"arthropathy","secondary_identifiers":["ICD9:719.88","ICD9:719.98","ICD9:719.89","ICD9:716.88","ICD9:716.9","MESH:D007592","ICD9:716.80","EFO:1000999","DOID:381","MEDGEN:7190","ICD9:711","ICD9:719.90","SCTID:399269003","UMLS:C0022408","ICD9:716.98","ICD9:716.90","ICD9:719.9","MedDRA:10003285","ICD9:719.80"],"synonyms":[{"name":"Joint ankylosis of the ankle and foot","type":"narrow"},{"name":"Joint ankylosis of the ankle and/or foot","type":"exact"},{"name":"Joint ankylosis of the forearm","type":"narrow"},{"name":"Joint ankylosis of the hand","type":"narrow"},{"name":"Joint ankylosis of the lower leg","type":"narrow"},{"name":"Joint ankylosis of the pelvic region and thigh","type":"narrow"},{"name":"Joint ankylosis of the shoulder region","type":"narrow"},{"name":"Joint ankylosis of the upper arm","type":"narrow"},{"name":"Joint disorder","type":"exact"},{"name":"ankylosis of ankle and foot joint","type":"narrow"},{"name":"ankylosis of forearm joint","type":"narrow"},{"name":"ankylosis of hand joint","type":"narrow"},{"name":"ankylosis of joint of ankle and/or foot","type":"exact"},{"name":"ankylosis of joint of forearm","type":"exact"},{"name":"ankylosis of joint of hand","type":"exact"},{"name":"ankylosis of joint of lower leg","type":"exact"},{"name":"ankylosis of joint of multiple sites","type":"narrow"},{"name":"ankylosis of joint of pelvic region and thigh","type":"narrow"},{"name":"ankylosis of joint of shoulder region","type":"narrow"},{"name":"ankylosis of joint of upper arm","type":"exact"},{"name":"ankylosis of lower leg joint","type":"narrow"},{"name":"ankylosis of multiple joints","type":"narrow"},{"name":"ankylosis of upper arm joint","type":"narrow"},{"name":"arthropathy","type":"exact"},{"name":"arthrosis","type":"related"},{"name":"disease of skeletal joint","type":"exact"},{"name":"disease or disorder of skeletal joint","type":"exact"},{"name":"disorder of joint","type":"related"},{"name":"disorder of skeletal joint","type":"exact"},{"name":"disorder, Joint","type":"exact"},{"name":"infectious arthropathy","type":"narrow"},{"name":"joint disease","type":"related"},{"name":"joint disorder","type":"related"},{"name":"skeletal joint disease","type":"exact"},{"name":"skeletal joint disease or disorder","type":"exact"}],"termid":"MONDO:0006816","xrefs":{"Monarch":{"xref_id":"0006816"}}}


id: GO:0002056
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Binding to cytosine.","definition_xrefs":["GOC:vw","GOC:hjd"],"direct_ancestors":[{"relation_name":"is_a","term_name":"pyrimidine nucleobase binding","termid":"GO:0002061"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005488"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0005488","GO:0003674"],"is_obsolete":false,"name":"cytosine binding","termid":"GO:0002056"}


id: PBO:0049765
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"HLA complex group 4 pseudogene 2","termid":"PBO:0049765"}


id: PBO:0038782
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"activin A receptor like type 1","termid":"PBO:0038782"}


id: PBO:0048483
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"glucosaminyl (N-acetyl) transferase family member 7","termid":"PBO:0048483"}


id: MONDO:1011527
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Hepatic lipidosis that occurs in domestic cat.","definition_xrefs":["MONDO:patterns/nonhuman_disease"],"direct_ancestors":[{"relation_name":"is_a","term_name":"hepatic lipidosis, non-human animal","termid":"MONDO:1011429"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"hepatic lipidosis, domestic cat","secondary_identifiers":["OMIA:000548-9685","OMIA:000605-9685"],"termid":"MONDO:1011527","xrefs":{"Monarch":{"xref_id":"1011527"}}}


id: PBO:0049496
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"H2A clustered histone 3, pseudogene","termid":"PBO:0049496"}


id: GO:0044319
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The migration of a cell along or through a wound gap that contributes to the reestablishment of a continuous surface.","definition_xrefs":["GOC:jl"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cell migration","termid":"GO:0016477"},{"relation_name":"part_of","term_name":"epiboly involved in wound healing","termid":"GO:0090505"}],"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":"wound healing, spreading of cells","synonyms":[{"name":"cell migration involved in wound healing epiboly","type":"exact"}],"termid":"GO:0044319"}


id: MONDO:0006033
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis.","definition_xrefs":["NCIT:P378"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"high grade astrocytic tumor","termid":"MONDO:0016680"},{"relation_name":"is_a","term_name":"childhood brain stem glioma","termid":"MONDO:0003869"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0004992"}],"interesting_parent_ids":["MONDO:0004992"],"is_obsolete":false,"name":"diffuse intrinsic pontine glioma","secondary_identifiers":["EFO:1000026","NCIT:C94764","Orphanet:497188","MESH:D000080443","MEDGEN:458884","ONCOTREE:DIPG","UMLS:C2986658","GARD:13075"],"synonyms":[{"name":"DIPG","type":"exact"},{"name":"diffuse midline glioma","type":"related"},{"name":"infiltrative brainstem glioma","type":"related"}],"termid":"MONDO:0006033","xrefs":{"Monarch":{"xref_id":"0006033"}}}


id: PBO:0071217
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein L23a pseudogene 58","termid":"PBO:0071217"}


id: MONDO:0010335
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"X-linked cone-rod dystrophy","termid":"MONDO:0021155"},{"relation_name":"is_a","term_name":"CACNA1F-related retinopathy","termid":"MONDO:0700243"}],"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":"X-linked cone-rod dystrophy 3","secondary_identifiers":["DOID:0111007","MESH:C564507","MEDGEN:336932","UMLS:C1845407","GARD:10654","OMIM:300476"],"synonyms":[{"name":"CORDX3","type":"exact"},{"name":"X-linked cone-rod dystrophy type 3","type":"exact"},{"name":"cone-rod dystrophy X-linked 3","type":"related"},{"name":"cone-rod dystrophy, X-linked, 3","type":"related"},{"name":"cone-rod dystrophy, X-linked, 3, X-linked recessive","type":"exact"},{"name":"cone-rod dystrophy, X-linked, type 3","type":"exact"}],"termid":"MONDO:0010335","xrefs":{"Monarch":{"xref_id":"0010335"}}}


id: PR:P0CT76
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- rps2302 gene.","definition_xrefs":["UniProtKB:P0CT76","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":"40S ribosomal protein S23-B (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPBP4H10.13","synonyms":[{"name":"Spom972h-rps2302","type":"exact"}],"termid":"PR:P0CT76"}


id: PBO:0059181
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"MRE11 homolog, double strand break repair nuclease pseudogene 1","termid":"PBO:0059181"}


id: PBO:0053876
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 1152","termid":"PBO:0053876"}


id: GO:0050499
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of an oxidation-reduction (redox) reaction in which a phosphorus- or arsenic-containing group acts as a hydrogen or electron donor and reduces a NAD(P)+ to NAD(P)H.","definition_xrefs":["GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"oxidoreductase activity, acting on phosphorus or arsenic in donors","termid":"GO:0030613"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0016491"}],"interesting_parent_ids":["GO:0003674","GO:0003824","GO:0016491"],"is_obsolete":false,"name":"oxidoreductase activity, acting on phosphorus or arsenic in donors, with NAD(P)+ as acceptor","secondary_identifiers":["EC:1.20.1.-"],"termid":"GO:0050499"}


id: GO:0047859
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"OBSOLETE. Catalysis of the reaction: 3,4-dihydroxy-L-phenylalanine = trans-caffeate + NH3.","definition_xrefs":["EC:4.3.1.11","MetaCyc:DIHYDROXYPHENYLALANINE-AMMONIA-LYASE-RXN"],"gene_count":0,"genotype_count":0,"name":"obsolete dihydroxyphenylalanine ammonia-lyase activity (obsolete GO:0047859)","synonyms":[{"name":"3,4-dihydroxy-L-phenylalanine ammonia-lyase (trans-caffeate-forming)","type":"related"},{"name":"3,4-dihydroxy-L-phenylalanine ammonia-lyase activity","type":"related"},{"name":"beta-(3,4-dihydroxyphenyl)-L-alanine (DOPA) ammonia-lyase activity","type":"related"},{"name":"dihydroxyphenylalanine ammonia-lyase activity","type":"exact"}],"termid":"GO:0047859"}


id: GO:0045296
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Binding to cadherin, a type I membrane protein involved in cell adhesion.","definition_xrefs":["GOC:bf"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cell adhesion molecule binding","termid":"GO:0050839"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005515"},{"rel_name":"is_a","termid":"GO:0005488"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0005515","GO:0005488","GO:0003674"],"is_obsolete":false,"name":"cadherin binding","termid":"GO:0045296"}


id: PBO:0002072
data:
  {"annotation_feature_type":"gene","cv_name":"EC numbers","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"2.4.1.15","termid":"PBO:0002072"}


id: MONDO:1011591
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Portosystemic shunt that occurs in domestic cat.","definition_xrefs":["MONDO:patterns/nonhuman_disease"],"direct_ancestors":[{"relation_name":"is_a","term_name":"portosystemic shunt, non-human animal","termid":"MONDO:1011409"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"portosystemic shunt, domestic cat","secondary_identifiers":["OMIA:000817-9685"],"termid":"MONDO:1011591","xrefs":{"Monarch":{"xref_id":"1011591"}}}


id: MONDO:0013114
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has material basis in mutation in the MIRN96 gene on chromosome 7q32.","definition_xrefs":["DOID:0110576","PMID:19363479"],"direct_ancestors":[{"relation_name":"is_a","term_name":"autosomal dominant nonsyndromic hearing loss","termid":"MONDO:0019587"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0000426"},{"rel_name":"is_a","termid":"MONDO:0019497"}],"interesting_parent_ids":["MONDO:0019497","MONDO:0000426"],"is_obsolete":false,"name":"autosomal dominant nonsyndromic hearing loss 50","secondary_identifiers":["GARD:18132","MEDGEN:854780","OMIM:613074","UMLS:C3888123"],"synonyms":[{"name":"DFNA50","type":"narrow"},{"name":"autosomal dominant deafness 50","type":"narrow"},{"name":"autosomal dominant nonsyndromic deafness 50","type":"narrow"},{"name":"autosomal dominant nonsyndromic deafness type 50","type":"narrow"},{"name":"deafness, autosomal dominant 50","type":"related"},{"name":"deafness, autosomal dominant type 50","type":"narrow"}],"termid":"MONDO:0013114","xrefs":{"Monarch":{"xref_id":"0013114"}}}


id: GO:0002292
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process in which an antigenically naive T cell acquires the specialized features of an effector, regulatory, or memory T cell as part of an immune response. Effector T cells include cells which provide T cell help or exhibit cytotoxicity towards other cells.","definition_xrefs":["ISBN:0781735149","GOC:add"],"direct_ancestors":[{"relation_name":"is_a","term_name":"T cell activation involved in immune response","termid":"GO:0002286"},{"relation_name":"is_a","term_name":"T cell differentiation","termid":"GO:0030217"}],"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":"T cell differentiation involved in immune response","synonyms":[{"name":"T cell development involved in immune response","type":"related"},{"name":"T cell differentiation during immune response","type":"related"},{"name":"T lymphocyte differentiation during immune response","type":"related"},{"name":"T-cell differentiation during immune response","type":"related"},{"name":"T-lymphocyte differentiation during immune response","type":"related"}],"termid":"GO:0002292"}


id: PBO:0089619
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"mitotic spindle checkpoint WD repeat protein Bub3","termid":"PBO:0089619"}


id: PBO:0116794
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"CPAMD8 pseudogene 1","termid":"PBO:0116794"}


id: PBO:0085817
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Protein of unknown function; expressed at both mRNA and protein levels; partially overlaps THO2/YNL139C","termid":"PBO:0085817"}


id: GO:0060445
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process in which the branching structure of the salivary gland is generated and organized.","definition_xrefs":["GOC:dph"],"direct_ancestors":[{"relation_name":"is_a","term_name":"morphogenesis of a branching epithelium","termid":"GO:0061138"},{"relation_name":"part_of","term_name":"salivary gland morphogenesis","termid":"GO:0007435"}],"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":"branching involved in salivary gland morphogenesis","termid":"GO:0060445"}


id: GO:0010161
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The series of molecular signals initiated upon sensing of red light by a photoreceptor molecule. Red light is electromagnetic radiation of wavelength of 580-700nm. An example of this response is seen at the beginning of many plant species developmental stages. These include germination, and the point when cotyledon expansion is triggered. In certain species these processes take place in response to absorption of red light by the pigment molecule phytochrome, but the signal can be reversed by exposure to far red light. During the initial phase the phytochrome molecule is only present in the red light absorbing form, but on absorption of red light it changes to a far red light absorbing form, triggering progress through development. An immediate short period of exposure to far red light entirely returns the pigment to its initial state and prevents triggering of the developmental process. A thirty minute break between red and subsequent far red light exposure renders the red light effect irreversible, and development then occurs regardless of whether far red light exposure subsequently occurs.","definition_xrefs":["GOC:sm","GOC:mtg_far_red"],"direct_ancestors":[{"relation_name":"is_a","term_name":"red or far-red light signaling pathway","termid":"GO:0010017"},{"relation_name":"is_a","term_name":"cellular response to red light","termid":"GO:0071491"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"part_of","termid":"GO:0023052"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150","GO:0023052"],"is_obsolete":false,"name":"red light signaling pathway","synonyms":[{"name":"red light phototransduction","type":"exact"},{"name":"red light signal transduction","type":"exact"},{"name":"red light signalling pathway","type":"exact"}],"termid":"GO:0010161"}


id: PBO:0026824
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-normal_sodium_export","termid":"PBO:0026824"}


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


id: PBO:0034495
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-decreased_level_of_iron_assimilation_gene_mRNA_during_vegetative_growth","termid":"PBO:0034495"}


id: GO:0015144
data:
  {"annotated_genes":["SJAG_02719","SJAG_00057","SJAG_02958","SJAG_03820","SJAG_04068","SJAG_03960","SJAG_03606","SJAG_04905","SJAG_03608"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[76706,73558,73421,73578,75172,71298],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0005351"},{"annotations":[64935],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0055056"},{"annotations":[111022],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0005354"},{"annotations":[103327],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0015149"},{"annotations":[114563],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0140108"},{"annotations":[117604],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0005358"},{"annotations":[96101],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0005364"},{"annotations":[75917],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0008506"}]},"cv_name":"molecular_function","definition":"Enables the transfer of carbohydrate from one side of a membrane to the other.","definition_xrefs":["ISBN:0815340729","GOC:mtg_transport","GOC:jl"],"direct_ancestors":[{"relation_name":"is_a","term_name":"transmembrane transporter activity","termid":"GO:0022857"}],"gene_count":9,"genes_by_uniquename":{"SJAG_00057":null,"SJAG_02719":null,"SJAG_02958":null,"SJAG_03606":null,"SJAG_03608":null,"SJAG_03820":null,"SJAG_03960":null,"SJAG_04068":null,"SJAG_04905":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0022857"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0005215"}],"interesting_parent_ids":["GO:0005215","GO:0022857","GO:0003674"],"is_obsolete":false,"name":"carbohydrate transmembrane transporter activity","references_by_uniquename":{"GO_REF:0000033":null,"GO_REF:0000104":null,"GO_REF:0000107":null},"secondary_identifiers":["GO:1901476"],"synonyms":[{"name":"carbohydrate transporter activity","type":"related"},{"name":"sugar transporter","type":"narrow"}],"termid":"GO:0015144","terms_by_termid":{"GO:0005351":null,"GO:0005354":null,"GO:0005358":null,"GO:0005364":null,"GO:0008506":null,"GO:0015149":null,"GO:0055056":null,"GO:0140108":null}}


id: GO:1904134
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents or reduces the frequency, rate or extent of convergent extension involved in rhombomere morphogenesis.","definition_xrefs":["GOC:dph","PMID:24892953","GOC:TermGenie","GO_REF:0000058"],"direct_ancestors":[{"relation_name":"is_a","term_name":"negative regulation of convergent extension involved in gastrulation","termid":"GO:1904104"},{"relation_name":"is_a","term_name":"regulation of convergent extension involved in rhombomere morphogenesis","termid":"GO:1904133"},{"relation_name":"negatively_regulates","term_name":"convergent extension involved in rhombomere morphogenesis","termid":"GO:1904125"}],"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 convergent extension involved in rhombomere morphogenesis","synonyms":[{"name":"down regulation of convergent extension involved in rhombomere morphogenesis","type":"exact"},{"name":"down-regulation of convergent extension involved in rhombomere morphogenesis","type":"exact"},{"name":"downregulation of convergent extension involved in rhombomere morphogenesis","type":"exact"},{"name":"inhibition of convergent extension involved in rhombomere morphogenesis","type":"narrow"}],"termid":"GO:1904134"}


id: GO:1900678
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of ferricrocin biosynthetic process.","definition_xrefs":["GOC:TermGenie","GOC:di"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of ferrichrome biosynthetic process","termid":"GO:1905568"},{"relation_name":"regulates","term_name":"ferricrocin biosynthetic process","termid":"GO:0031171"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"regulates","termid":"GO:0019748"}],"interesting_parent_ids":["GO:0008150","GO:0019748"],"is_obsolete":false,"name":"regulation of ferricrocin biosynthetic process","synonyms":[{"name":"regulation of ferricrocin anabolism","type":"exact"},{"name":"regulation of ferricrocin biosynthesis","type":"exact"},{"name":"regulation of ferricrocin biosynthetic process, peptide formation","type":"narrow"},{"name":"regulation of ferricrocin biosynthetic process, peptide modification","type":"narrow"},{"name":"regulation of ferricrocin formation","type":"exact"},{"name":"regulation of ferricrocin synthesis","type":"exact"}],"termid":"GO:1900678"}


id: MONDO:0007721
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Herniation of the upper part of the stomach through the diaphragm.","definition_xrefs":["NCIT:P378"],"direct_ancestors":[{"relation_name":"is_a","term_name":"stomach disorder","termid":"MONDO:0004298"}],"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":"hiatus hernia","secondary_identifiers":["DOID:12642","MEDGEN:483347","SCTID:84089009","OMIM:142400","NCIT:C98945","UMLS:C3489393","HP:0002036","MESH:D006551"],"synonyms":[{"name":"diaphragmatic - hiatus -hernia","type":"exact"},{"name":"hernia, hiatus","type":"related"},{"name":"hiatal hernia","type":"exact"},{"name":"hiatus hernia","type":"exact"},{"name":"hiatus hernia (disease)","type":"exact"}],"termid":"MONDO:0007721","xrefs":{"Monarch":{"xref_id":"0007721"}}}


id: GO:0016427
data:
  {"annotated_genes":["SJAG_01314","SJAG_04453","SJAG_02099","SJAG_01269","SJAG_00499","SJAG_00325"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[66112],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0106340"},{"annotations":[79474,110529],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0052735"},{"annotations":[106141,71038,79813],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0016428"}]},"cv_name":"molecular_function","definition":"Catalysis of the reaction: S-adenosyl-L-methionine + tRNA = S-adenosyl-L-homocysteine + tRNA containing methylcytosine.","definition_xrefs":["GOC:go-curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"tRNA methyltransferase activity","termid":"GO:0008175"},{"relation_name":"is_a","term_name":"S-adenosylmethionine-dependent methyltransferase activity","termid":"GO:0008757"}],"gene_count":6,"genes_by_uniquename":{"SJAG_00325":null,"SJAG_00499":null,"SJAG_01269":null,"SJAG_01314":null,"SJAG_02099":null,"SJAG_04453":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0016741"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0140101"},{"rel_name":"is_a","termid":"GO:0140098"},{"rel_name":"is_a","termid":"GO:0016740"}],"interesting_parent_ids":["GO:0016740","GO:0003674","GO:0016741","GO:0003824","GO:0140101","GO:0140098"],"is_obsolete":false,"name":"tRNA (cytidine) methyltransferase activity","references_by_uniquename":{"GO_REF:0000003":null,"GO_REF:0000033":null,"GO_REF:0000107":null},"synonyms":[{"name":"tRNA (cytosine) methyltransferase activity","type":"exact"}],"termid":"GO:0016427","terms_by_termid":{"GO:0016428":null,"GO:0052735":null,"GO:0106340":null}}


id: FYECO:0000284
data:
  {"annotation_feature_type":"gene","cv_name":"fission_yeast_phenotype_condition","definition":"An experimental condition in which thiosulfate was added to the medium or assay buffer in excess compared to standard medium or assay buffers.","definition_xrefs":["PomBase:al"],"direct_ancestors":[{"relation_name":"is_a","term_name":"grouping limited","termid":"FYECO:0000011"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"+ thiosulfate","secondary_identifiers":["PMID:7565608"],"synonyms":[{"name":"+ S2O32-","type":"exact"}],"termid":"FYECO:0000284"}


id: GO:0072281
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process in which a relatively unspecialized cell acquires specialized features of a mesenchymal stem cell that contributes to the shaping of a nephronin the metanephros. A mesenchymal stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized mesenchymal cells.","definition_xrefs":["GOC:mtg_kidney_jan10"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cell differentiation involved in mesonephros development","termid":"GO:0061208"},{"relation_name":"is_a","term_name":"mesenchymal stem cell differentiation involved in nephron morphogenesis","termid":"GO:0072037"},{"relation_name":"is_a","term_name":"cell differentiation involved in metanephros development","termid":"GO:0072202"},{"relation_name":"part_of","term_name":"metanephric nephron morphogenesis","termid":"GO:0072273"}],"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":"mesenchymal stem cell differentiation involved in metanephric nephron morphogenesis","termid":"GO:0072281"}


id: PBO:0041821
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"CARNMT1 antisense RNA 1","termid":"PBO:0041821"}


id: PBO:0008072
data:
  {"annotation_feature_type":"gene","cv_name":"complementation","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"functionally complemented by S. cerevisiae YPS1","termid":"PBO:0008072"}


id: CHEBI:43040
data:
  {"annotation_feature_type":"gene","cv_name":"chebi_ontology","direct_ancestors":[{"relation_name":"is_a","term_name":"chemical entity","termid":"CHEBI:24431"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"hadacidin","termid":"CHEBI:43040"}


id: PBO:0029653
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-resistance_to_stress","termid":"PBO:0029653"}


id: RO:0002121
data:
  {"annotation_feature_type":"gene","cv_name":"relationship","definition":"Relation between a neuron and some structure  (e.g.- a brain region) in which its dendrite receives synaptic input.\\n\\n\t","direct_ancestors":[{"relation_name":"is_a","term_name":"has_postsynaptic_terminal_in","termid":"RO:0002110"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"dendrite_synapsed_in","termid":"RO:0002121"}


id: PBO:0074788
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"small nucleolar RNA, C/D box 9","termid":"PBO:0074788"}


id: MONDO:1011810
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"cancer or benign tumor, non-human animal","termid":"MONDO:1011305"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"megakaryoblastic leukemia, non-human animal","secondary_identifiers":["OMIA:000630"],"termid":"MONDO:1011810","xrefs":{"Monarch":{"xref_id":"1011810"}}}


id: PBO:0002404
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"2-OG-Fe(II) oxygenase superfamily protein","termid":"PBO:0002404"}


id: GO:0033961
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: cis-stilbene oxide + H2O = (+)-(1R,2R)-1,2-diphenylethane-1,2-diol.","definition_xrefs":["EC:3.3.2.9"],"direct_ancestors":[{"relation_name":"is_a","term_name":"epoxide hydrolase activity","termid":"GO:0004301"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0016787"}],"interesting_parent_ids":["GO:0003674","GO:0016787","GO:0003824"],"is_obsolete":false,"name":"cis-stilbene-oxide hydrolase activity","secondary_identifiers":["Reactome:R-HSA-5694077","RHEA:23900","MetaCyc:3.3.2.9-RXN"],"synonyms":[{"name":"arene-oxide hydratase activity","type":"broad"},{"name":"aryl epoxide hydrase activity","type":"broad"},{"name":"benzo(a)pyrene-4,5-epoxide hydratase activity","type":"narrow"},{"name":"benzo[a]pyrene-4,5-oxide hydratase activity","type":"narrow"},{"name":"cis-epoxide hydrolase activity","type":"related"},{"name":"epoxide hydrase activity","type":"broad"},{"name":"epoxide hydratase activity","type":"broad"},{"name":"mEH","type":"related"},{"name":"microsomal epoxide hydrase activity","type":"narrow"},{"name":"microsomal epoxide hydratase activity","type":"narrow"},{"name":"microsomal epoxide hydrolase activity","type":"narrow"}],"termid":"GO:0033961"}


id: PBO:0054542
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 1942","termid":"PBO:0054542"}


id: PBO:0060474
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Nanog homeobox","termid":"PBO:0060474"}


id: GO:0071548
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a dexamethasone stimulus.","definition_xrefs":["GOC:mah","GOC:yaf"],"direct_ancestors":[{"relation_name":"is_a","term_name":"response to glucocorticoid","termid":"GO:0051384"},{"relation_name":"is_a","term_name":"response to ketone","termid":"GO:1901654"}],"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 dexamethasone","synonyms":[{"name":"response to dexamethasone stimulus","type":"exact"}],"termid":"GO:0071548"}


id: MONDO:0859263
data:
  {"annotated_genes":["SJAG_02160","SJAG_01025"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[87167,87168],"is_not":false,"summary":null,"term":"MONDO:0859263"}]},"cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"hereditary disease","termid":"MONDO:0003847"}],"gene_count":2,"genes_by_uniquename":{"SJAG_01025":null,"SJAG_02160":null},"genotype_count":0,"is_obsolete":false,"name":"developmental delay, impaired speech, and behavioral abnormalities, with or without seizures","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["OMIM:619964","UMLS:C5575272","MEDGEN:1811329"],"termid":"MONDO:0859263","terms_by_termid":{"MONDO:0859263":null},"xrefs":{"Monarch":{"xref_id":"0859263"}}}


id: PBO:0065862
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RAB19, member RAS oncogene family","termid":"PBO:0065862"}


id: PBO:0115008
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"copper-binding protein involved in cytochrome c oxidase assembly, Cmc1","termid":"PBO:0115008"}


id: MONDO:0007776
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"An instance of hypersensitivity pneumonitis that is caused by an inherited modification of the individual's genome.","definition_xrefs":["MONDO:patterns/hereditary"],"direct_ancestors":[{"relation_name":"is_a","term_name":"hereditary disease","termid":"MONDO:0003847"},{"relation_name":"is_a","term_name":"hypersensitivity pneumonitis","termid":"MONDO:0017853"}],"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":"hypersensitivity pneumonitis, familial","secondary_identifiers":["MESH:C536846","OMIM:145300","UMLS:C1840386","GARD:8240","MEDGEN:326724"],"synonyms":[{"name":"hereditary hypersensitivity pneumonitis","type":"exact"},{"name":"hypersensitivity pneumonitis, familial","type":"exact"}],"termid":"MONDO:0007776","xrefs":{"Monarch":{"xref_id":"0007776"}}}


id: PBO:0079451
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"TUSC2 pseudogene 1","termid":"PBO:0079451"}


id: GO:0090347
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the rate, frequency or extent of the chemical reactions and pathways involving organohalogen compounds, as carried out by individual cells.","definition_xrefs":["GOC:BHF"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of metabolic process","termid":"GO:0019222"},{"relation_name":"regulates","term_name":"organohalogen metabolic process","termid":"GO:0090345"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"regulation of organohalogen metabolic process","termid":"GO:0090347"}


id: PBO:0067718
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, 5S ribosomal 16","termid":"PBO:0067718"}


id: PBO:0067222
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, 7SL, cytoplasmic 291, pseudogene","termid":"PBO:0067222"}


id: PBO:0054206
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 1586","termid":"PBO:0054206"}


id: MONDO:0032844
data:
  {"annotated_genes":["SJAG_01166"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[87177],"is_not":false,"summary":null,"term":"MONDO:0032844"}]},"cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"infantile liver failure","termid":"MONDO:0000023"}],"gene_count":1,"genes_by_uniquename":{"SJAG_01166":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0004335"},{"rel_name":"is_a","termid":"MONDO:0002515"}],"interesting_parent_ids":["MONDO:0002515","MONDO:0004335"],"is_obsolete":false,"name":"infantile liver failure syndrome 3","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["MEDGEN:1684678","OMIM:618641","UMLS:C5231437","GARD:16483"],"synonyms":[{"name":"ILFS3","type":"related"},{"name":"INFANTILE LIVER FAILURE SYNDROME 3","type":"related"}],"termid":"MONDO:0032844","terms_by_termid":{"MONDO:0032844":null},"xrefs":{"Monarch":{"xref_id":"0032844"}}}


id: GO:0005919
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"A septate junction in which regular arrays of electron-dense septae span the intermembrane space.","definition_xrefs":["PMID:11700298"],"direct_ancestors":[{"relation_name":"is_a","term_name":"septate junction","termid":"GO:0005918"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005575"}],"interesting_parent_ids":["GO:0005575"],"is_obsolete":false,"name":"pleated septate junction","synonyms":[{"name":"pleated desmosome","type":"related"}],"termid":"GO:0005919"}


id: PBO:0036484
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"serine/threonine protein kinase involved in endocytosis Cki1","termid":"PBO:0036484"}


id: PBO:0072269
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein S21 pseudogene 7","termid":"PBO:0072269"}


id: PR:P04909
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A histone H2A-alpha that is encoded in the genome of Schizosaccharomyces pombe 972h-.","definition_xrefs":["PMID:15226425","PMID:19965387","PomBase:MAH","PMID:21516229"],"direct_ancestors":[{"relation_name":"is_a","term_name":"histone H2A-alpha","termid":"PR:000027558"},{"relation_name":"is_a","term_name":"Schizosaccharomyces pombe 972h- protein","termid":"PR:000029043"},{"relation_name":"is_a","term_name":"core histone (Schizosaccharomyces pombe)","termid":"PR:000041293"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"histone H2A-alpha (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPCC622.08c","secondary_identifiers":["UniProtKB:P04909","PR:000027559"],"synonyms":[{"name":"SPCC622.08C","type":"related"},{"name":"Spom972h-hta1","type":"exact"}],"termid":"PR:P04909"}


id: GO:0014902
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process in which a relatively unspecialized cell acquires specialized features of a myotube cell. Myotube differentiation starts with myoblast fusion and the appearance of specific cell markers (this is the cell development step). Then individual myotubes can fuse to form bigger myotubes and start to contract. Myotubes are multinucleated cells that are formed when proliferating myoblasts exit the cell cycle, differentiate and fuse.","definition_xrefs":["GOC:mtg_muscle"],"direct_ancestors":[{"relation_name":"is_a","term_name":"striated muscle cell differentiation","termid":"GO:0051146"}],"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":"myotube differentiation","termid":"GO:0014902"}


id: PBO:0057300
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 514a-1","termid":"PBO:0057300"}


id: PBO:0060106
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"MT-ND6 pseudogene 7","termid":"PBO:0060106"}


id: PBO:0087035
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Ribosomal 60S subunit protein L17A; required for processing of 27SB pre-rRNA and formation of stable 66S assembly intermediates; copurifies with the Dam1 complex (aka DASH complex); homologous to mammalian ribosomal protein L17 and bacterial L22; RPL17A has a paralog, RPL17B, that arose from the whole genome duplication; protein abundance increases in response to DNA replication stress","termid":"PBO:0087035"}


id: PBO:0073866
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"solute carrier family 9 member B1 pseudogene 2","termid":"PBO:0073866"}


id: MONDO:0012979
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH9 gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"primary ciliary dyskinesia","termid":"MONDO:0016575"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"primary ciliary dyskinesia 12","secondary_identifiers":["UMLS:C2675228","DOID:0110601","MEDGEN:436379","OMIM:612650","MESH:C567211","GARD:15575"],"synonyms":[{"name":"CILD12","type":"exact"},{"name":"RSPH9 primary ciliary dyskinesia","type":"exact"},{"name":"ciliary dyskinesia, primary, 12","type":"related"},{"name":"ciliary dyskinesia, primary, 12, without situs inversus","type":"related"},{"name":"ciliary dyskinesia, primary, type 12","type":"exact"},{"name":"primary ciliary dyskinesia 12 without situs inversus","type":"exact"},{"name":"primary ciliary dyskinesia caused by mutation in RSPH9","type":"exact"},{"name":"primary ciliary dyskinesia type 12","type":"exact"}],"termid":"MONDO:0012979","xrefs":{"Monarch":{"xref_id":"0012979"}}}


id: GO:0045504
data:
  {"annotated_genes":["SJAG_02561"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[77691],"is_not":false,"summary":null,"term":"GO:0045504"}]},"cv_name":"molecular_function","definition":"Binding to a heavy chain of the dynein complex.","definition_xrefs":["GOC:bf"],"direct_ancestors":[{"relation_name":"is_a","term_name":"protein binding","termid":"GO:0005515"}],"gene_count":1,"genes_by_uniquename":{"SJAG_02561":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0005488"},{"rel_name":"is_a","termid":"GO:0005515"}],"interesting_parent_ids":["GO:0003674","GO:0005488","GO:0005515"],"is_obsolete":false,"name":"dynein heavy chain binding","references_by_uniquename":{"GO_REF:0000033":null},"termid":"GO:0045504","terms_by_termid":{"GO:0045504":null}}


id: GO:1902900
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The aggregation, arrangement and bonding together of a set of components to form a gut granule.","definition_xrefs":["GOC:TermGenie","PMID:17202409","GOC:kmv","GO_REF:0000079"],"direct_ancestors":[{"relation_name":"is_a","term_name":"vesicle organization","termid":"GO:0016050"},{"relation_name":"is_a","term_name":"organelle assembly","termid":"GO:0070925"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"part_of","termid":"GO:0044085"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0044085","GO:0008150"],"is_obsolete":false,"name":"gut granule assembly","synonyms":[{"name":"gut granule biogenesis","type":"exact"},{"name":"gut granule formation","type":"exact"}],"termid":"GO:1902900"}


id: MONDO:0002322
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Acquired degenerative dilation or expansion (ectasia) of normal blood vessels, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the gastrointestinal tract leading to gastrointestinal hemorrhage and anemia.","definition_xrefs":["MESH:D016888"],"direct_ancestors":[{"relation_name":"is_a","term_name":"vascular disorder","termid":"MONDO:0005385"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"angiodysplasia","secondary_identifiers":["ICD9:537.83","DOID:2494","MEDGEN:88403","SCTID:90858003","UMLS:C0085411"],"synonyms":[{"name":"angiodysplasia of stomach and duodenum with haemorrhage","type":"narrow"},{"name":"angiodysplasia of stomach and duodenum with hemorrhage","type":"narrow"}],"termid":"MONDO:0002322","xrefs":{"Monarch":{"xref_id":"0002322"}}}


id: MONDO:0011513
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"early-onset autosomal dominant Alzheimer disease","termid":"MONDO:0015140"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0002039"},{"rel_name":"is_a","termid":"MONDO:0000426"},{"rel_name":"is_a","termid":"MONDO:0005559"}],"interesting_parent_ids":["MONDO:0002039","MONDO:0005559","MONDO:0000426"],"is_obsolete":false,"name":"Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology","secondary_identifiers":["UMLS:C1857933","MESH:C565728","OMIM:605055","GARD:16508","MEDGEN:341884"],"synonyms":[{"name":"Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology","type":"exact"}],"termid":"MONDO:0011513","xrefs":{"Monarch":{"xref_id":"0011513"}}}


id: FYPO:0004438
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A spindle phenotype in which the mitotic spindle is longer than normal during anaphase.","definition_xrefs":["PomBase:mah","PMID:17352737"],"direct_ancestors":[{"relation_name":"is_a","term_name":"long mitotic spindle","termid":"FYPO:0000733"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"output_of","termid":"FYPO:0000054"},{"rel_name":"output_of","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0000120"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0002399"},{"rel_name":"output_of","termid":"FYPO:0001985"}],"interesting_parent_ids":["FYPO:0001985","FYPO:0000054","FYPO:0001320","FYPO:0005447","FYPO:0000120","FYPO:0002399","FYPO:0000002"],"is_obsolete":false,"name":"long mitotic spindle during anaphase","synonyms":[{"name":"elongated mitotic spindle during anaphase","type":"exact"},{"name":"increased mitotic spindle length during anaphase","type":"exact"},{"name":"long bipolar mitotic spindle during anaphase","type":"exact"},{"name":"long mitotic spindle during anaphase during vegetative growth","type":"exact"},{"name":"long mitotic spindles during anaphase","type":"exact"},{"name":"long spindle during anaphase of mitosis","type":"exact"},{"name":"long spindle during mitotic anaphase","type":"exact"}],"termid":"FYPO:0004438"}


id: SO:0000274
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"A small nuclear RNA molecule involved in pre-mRNA splicing and processing.","definition_xrefs":["WB:ems","PMID:11733745"],"direct_ancestors":[{"relation_name":"derives_from","term_name":"snRNA_primary_transcript","termid":"SO:0000231"},{"relation_name":"is_a","term_name":"sncRNA","termid":"SO:0002247"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"snRNA","secondary_identifiers":["http://en.wikipedia.org/wiki/SnRNA"],"synonyms":[{"name":"INSDC_feature:ncRNA","type":"broad"},{"name":"INSDC_qualifier:snRNA","type":"exact"},{"name":"small nuclear RNA","type":"exact"}],"termid":"SO:0000274"}


id: PR:P41005
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- mes1 gene.","definition_xrefs":["UniProtKB:P41005","PRO:DNx"],"direct_ancestors":[{"relation_name":"is_a","term_name":"Schizosaccharomyces pombe 972h- protein","termid":"PR:000029043"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"protein mes1 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAC5D6.08c","synonyms":[{"name":"Spom972h-mes1","type":"exact"}],"termid":"PR:P41005"}


id: PBO:0056856
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"MIA SH3 domain ER export factor 2","termid":"PBO:0056856"}


id: GO:1990036
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The directed movement of calcium ions into a sarcoplasmic reticulum.","definition_xrefs":["GOC:BHF","PMID:17286271"],"direct_ancestors":[{"relation_name":"is_a","term_name":"intracellular transport","termid":"GO:0046907"},{"relation_name":"is_a","term_name":"sarcoplasmic reticulum calcium ion transport","termid":"GO:0070296"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0051179"},{"rel_name":"is_a","termid":"GO:0006810"}],"interesting_parent_ids":["GO:0051179","GO:0006810","GO:0008150"],"is_obsolete":false,"name":"calcium ion import into sarcoplasmic reticulum","termid":"GO:1990036"}


id: PR:Q9Y7U8
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- mrpl37 gene.","definition_xrefs":["PRO:DNx","UniProtKB:Q9Y7U8"],"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":"54S ribosomal protein L37, mitochondrial (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPCC645.09","synonyms":[{"name":"Spom972h-mrpl37","type":"exact"}],"termid":"PR:Q9Y7U8"}


id: PBO:0068447
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U1 small nuclear 21, pseudogene","termid":"PBO:0068447"}


id: PBO:0078279
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"tRNA-Cys (anticodon GCA) 12-1","termid":"PBO:0078279"}


id: MONDO:0019816
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete anomaly of the tricuspid subvalvular apparatus (obsolete MONDO:0019816)","secondary_identifiers":["Orphanet:95463"],"termid":"MONDO:0019816","xrefs":{"Monarch":{"xref_id":"0019816"}}}


id: PR:Q10492
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- pnn1 gene.","definition_xrefs":["UniProtKB:Q10492","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":"pinin homolog 1 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAC26F1.02","synonyms":[{"name":"Spom972h-pnn1","type":"exact"}],"termid":"PR:Q10492"}


id: FYPO:0003609
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A molecular function phenotype in which the observed rate of dehydrodolichyl diphosphate synthase activity is decreased.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"decreased catalytic activity","termid":"FYPO:0000663"},{"relation_name":"is_a","term_name":"abnormal dehydrodolichyl diphosphate synthase activity","termid":"FYPO:0003608"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000652"},{"rel_name":"is_a","termid":"FYPO:0000654"},{"rel_name":"is_a","termid":"FYPO:0000707"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0000661"}],"interesting_parent_ids":["FYPO:0000661","FYPO:0000707","FYPO:0000652","FYPO:0000654","FYPO:0001985"],"is_obsolete":false,"name":"decreased dehydrodolichyl diphosphate synthase activity","synonyms":[{"name":"reduced dehydrodolichyl diphosphate synthase activity","type":"exact"}],"termid":"FYPO:0003609"}


id: PBO:0087523
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Subunit of inner ring of nuclear pore complex (NPC); contributes to NPC assembly and nucleocytoplasmic transport; interacts with genomic regions that contain ribosomal protein and subtelomeric genes, where it functions in nucleosome positioning and as a repressor of transcription; both Nup170p and Nup157p are similar to human Nup155p; NUP170 has a paralog, NUP157, that arose from the whole genome duplication","termid":"PBO:0087523"}


id: CHEBI:15652
data:
  {"annotation_feature_type":"gene","cv_name":"chebi_ontology","direct_ancestors":[{"relation_name":"is_a","term_name":"chemical entity","termid":"CHEBI:24431"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"5'-xanthylic acid","termid":"CHEBI:15652"}


id: PBO:0113112
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Elongation factor 2 (eEF2, EF-2), also encoded by EFT2; catalyzes ribosomal translocation during protein synthesis; contains diphthamide, the unique posttranslationally modified histidine residue specifically ADP-ribosylated by diphtheria toxin; EFT1 has a paralog, EFT2, that arose from the whole genome duplication","termid":"PBO:0113112"}


id: MONDO:0007584
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Exostoses-anetodermia-brachydactyly type E syndrome is an association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985.","definition_xrefs":["Orphanet:1962"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"obsolete primary bone dysplasia with disorganized development of skeletal components (obsolete MONDO:0019708)","termid":"MONDO:0019708"},{"relation_name":"is_a","term_name":"hereditary disease","termid":"MONDO:0003847"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"exostoses-anetodermia-brachydactyly type E syndrome","secondary_identifiers":["OMIM:133690","MESH:C565034","UMLS:C1851428","MEDGEN:338695","GARD:2202"],"synonyms":[{"name":"exostoses with anetodermia and brachydactyly, type E","type":"related"}],"termid":"MONDO:0007584","xrefs":{"Monarch":{"xref_id":"0007584"}}}


id: PBO:0062647
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"olfactory receptor family 12 subfamily D member 1 (gene/pseudogene)","termid":"PBO:0062647"}


id: GO:1902961
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. Any process that activates or increases the frequency, rate or extent of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process.","definition_xrefs":["GO_REF:0000059","GOC:sjp","GOC:TermGenie","PMID:24577224"],"gene_count":0,"genotype_count":0,"name":"obsolete positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (obsolete GO:1902961)","synonyms":[{"name":"activation of aspartate protease activity involved in APP catabolic process","type":"narrow"},{"name":"activation of aspartate protease activity involved in APP catabolism","type":"narrow"},{"name":"activation of aspartate protease activity involved in amyloid precursor protein breakdown","type":"narrow"},{"name":"activation of aspartate protease activity involved in amyloid precursor protein catabolic process","type":"narrow"},{"name":"activation of aspartate protease activity involved in amyloid precursor protein catabolism","type":"narrow"},{"name":"activation of aspartate protease activity involved in amyloid precursor protein degradation","type":"narrow"},{"name":"activation of aspartic endopeptidase activity involved in APP catabolic process","type":"narrow"},{"name":"activation of aspartic endopeptidase activity involved in APP catabolism","type":"narrow"},{"name":"activation of aspartic endopeptidase activity involved in amyloid precursor protein breakdown","type":"narrow"},{"name":"activation of aspartic endopeptidase activity involved in amyloid precursor protein catabolic process","type":"narrow"},{"name":"activation of aspartic endopeptidase activity involved in amyloid precursor protein catabolism","type":"narrow"},{"name":"activation of aspartic endopeptidase activity involved in amyloid precursor protein degradation","type":"narrow"},{"name":"activation of aspartic protease activity involved in APP catabolic process","type":"narrow"},{"name":"activation of aspartic protease activity involved in APP catabolism","type":"narrow"},{"name":"activation of aspartic protease activity involved in amyloid precursor protein breakdown","type":"narrow"},{"name":"activation of aspartic protease activity involved in amyloid precursor protein catabolic process","type":"narrow"},{"name":"activation of aspartic protease activity involved in amyloid precursor protein catabolism","type":"narrow"},{"name":"activation of aspartic protease activity involved in amyloid precursor protein degradation","type":"narrow"},{"name":"activation of aspartic-type endopeptidase activity involved in APP catabolic process","type":"narrow"},{"name":"activation of aspartic-type endopeptidase activity involved in APP catabolism","type":"narrow"},{"name":"activation of aspartic-type endopeptidase activity involved in amyloid precursor protein breakdown","type":"narrow"},{"name":"activation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process","type":"narrow"},{"name":"activation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolism","type":"narrow"},{"name":"activation of aspartic-type endopeptidase activity involved in amyloid precursor protein degradation","type":"narrow"},{"name":"activation of aspartyl protease activity involved in APP catabolic process","type":"narrow"},{"name":"activation of aspartyl protease activity involved in APP catabolism","type":"narrow"},{"name":"activation of aspartyl protease activity involved in amyloid precursor protein breakdown","type":"narrow"},{"name":"activation of aspartyl protease activity involved in amyloid precursor protein catabolic process","type":"narrow"},{"name":"activation of aspartyl protease activity involved in amyloid precursor protein catabolism","type":"narrow"},{"name":"activation of aspartyl protease activity involved in amyloid precursor protein degradation","type":"narrow"},{"name":"activation of carboxyl protease activity involved in APP catabolic process","type":"narrow"},{"name":"activation of carboxyl protease activity involved in APP catabolism","type":"narrow"},{"name":"activation of carboxyl protease activity involved in amyloid precursor protein breakdown","type":"narrow"},{"name":"activation of carboxyl protease activity involved in amyloid precursor protein catabolic process","type":"narrow"},{"name":"activation of carboxyl protease activity involved in amyloid precursor protein catabolism","type":"narrow"},{"name":"activation of carboxyl protease activity involved in amyloid precursor protein degradation","type":"narrow"},{"name":"positive regulation of aspartate protease activity involved in APP catabolic process","type":"exact"},{"name":"positive regulation of aspartate protease activity involved in APP catabolism","type":"exact"},{"name":"positive regulation of aspartate protease activity involved in amyloid precursor protein breakdown","type":"exact"},{"name":"positive regulation 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regulation of aspartic endopeptidase activity involved in amyloid precursor protein degradation","type":"exact"},{"name":"positive regulation of aspartic protease activity involved in APP catabolic process","type":"exact"},{"name":"positive regulation of aspartic protease activity involved in APP catabolism","type":"exact"},{"name":"positive regulation of aspartic protease activity involved in amyloid precursor protein breakdown","type":"exact"},{"name":"positive regulation of aspartic protease activity involved in amyloid precursor protein catabolic process","type":"exact"},{"name":"positive regulation of aspartic protease activity involved in amyloid precursor protein catabolism","type":"exact"},{"name":"positive regulation of aspartic protease activity involved in amyloid precursor protein degradation","type":"exact"},{"name":"positive regulation of aspartic-type endopeptidase activity involved in APP catabolic process","type":"exact"},{"name":"positive regulation of aspartic-type endopeptidase activity involved in APP catabolism","type":"exact"},{"name":"positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein breakdown","type":"exact"},{"name":"positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolism","type":"exact"},{"name":"positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein degradation","type":"exact"},{"name":"positive regulation of aspartyl protease activity involved in APP catabolic process","type":"exact"},{"name":"positive regulation of aspartyl protease activity involved in APP catabolism","type":"exact"},{"name":"positive regulation of aspartyl protease activity involved in amyloid precursor protein breakdown","type":"exact"},{"name":"positive regulation of aspartyl protease activity involved in amyloid precursor protein catabolic process","type":"exact"},{"name":"positive regulation of aspartyl protease activity involved in amyloid precursor protein catabolism","type":"exact"},{"name":"positive regulation of aspartyl protease activity involved in amyloid precursor protein degradation","type":"exact"},{"name":"positive regulation of carboxyl protease activity involved in APP catabolic process","type":"exact"},{"name":"positive regulation of carboxyl protease activity involved in APP catabolism","type":"exact"},{"name":"positive regulation of carboxyl protease activity involved in amyloid precursor protein breakdown","type":"exact"},{"name":"positive regulation of carboxyl protease activity involved in amyloid precursor protein catabolic process","type":"exact"},{"name":"positive regulation of carboxyl protease activity involved in amyloid precursor protein catabolism","type":"exact"},{"name":"positive regulation of carboxyl protease activity involved in amyloid precursor protein degradation","type":"exact"},{"name":"up regulation of aspartate protease activity involved in APP catabolic process","type":"exact"},{"name":"up regulation of aspartate protease activity involved in APP catabolism","type":"exact"},{"name":"up regulation of aspartate protease activity involved in amyloid precursor protein breakdown","type":"exact"},{"name":"up regulation of aspartate protease activity involved in amyloid precursor protein catabolic process","type":"exact"},{"name":"up regulation of aspartate protease activity involved in amyloid precursor protein catabolism","type":"exact"},{"name":"up regulation of aspartate protease activity involved in amyloid precursor protein degradation","type":"exact"},{"name":"up regulation of aspartic endopeptidase activity involved in APP catabolic process","type":"exact"},{"name":"up regulation of aspartic endopeptidase activity involved in APP catabolism","type":"exact"},{"name":"up regulation of aspartic endopeptidase activity involved in amyloid precursor protein breakdown","type":"exact"},{"name":"up regulation of aspartic endopeptidase 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degradation","type":"exact"},{"name":"up regulation of aspartic-type endopeptidase activity involved in APP catabolic process","type":"exact"},{"name":"up regulation of aspartic-type endopeptidase activity involved in APP catabolism","type":"exact"},{"name":"up regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein breakdown","type":"exact"},{"name":"up regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process","type":"exact"},{"name":"up regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolism","type":"exact"},{"name":"up regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein degradation","type":"exact"},{"name":"up regulation of aspartyl protease activity involved in APP catabolic process","type":"exact"},{"name":"up regulation of aspartyl protease activity involved in APP catabolism","type":"exact"},{"name":"up regulation of aspartyl protease activity involved in amyloid precursor protein breakdown","type":"exact"},{"name":"up regulation of aspartyl protease activity involved in amyloid precursor protein catabolic process","type":"exact"},{"name":"up regulation of aspartyl protease activity involved in amyloid precursor protein catabolism","type":"exact"},{"name":"up regulation of aspartyl protease activity involved in amyloid precursor protein degradation","type":"exact"},{"name":"up regulation of carboxyl protease activity involved in APP catabolic process","type":"exact"},{"name":"up regulation of carboxyl protease activity involved in APP catabolism","type":"exact"},{"name":"up regulation of carboxyl protease activity involved in amyloid precursor protein breakdown","type":"exact"},{"name":"up regulation of carboxyl protease activity involved in amyloid precursor protein catabolic process","type":"exact"},{"name":"up regulation of carboxyl protease activity involved in amyloid precursor protein 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protease activity involved in amyloid precursor protein degradation","type":"exact"},{"name":"upregulation of aspartic endopeptidase activity involved in APP catabolic process","type":"exact"},{"name":"upregulation of aspartic endopeptidase activity involved in APP catabolism","type":"exact"},{"name":"upregulation of aspartic endopeptidase activity involved in amyloid precursor protein breakdown","type":"exact"},{"name":"upregulation of aspartic endopeptidase activity involved in amyloid precursor protein catabolic process","type":"exact"},{"name":"upregulation of aspartic endopeptidase activity involved in amyloid precursor protein catabolism","type":"exact"},{"name":"upregulation of aspartic endopeptidase activity involved in amyloid precursor protein degradation","type":"exact"},{"name":"upregulation of aspartic protease activity involved in APP catabolic process","type":"exact"},{"name":"upregulation of aspartic protease activity involved in APP catabolism","type":"exact"},{"name":"upregulation of aspartic protease activity involved in amyloid precursor protein breakdown","type":"exact"},{"name":"upregulation of aspartic protease activity involved in amyloid precursor protein catabolic process","type":"exact"},{"name":"upregulation of aspartic protease activity involved in amyloid precursor protein catabolism","type":"exact"},{"name":"upregulation of aspartic protease activity involved in amyloid precursor protein degradation","type":"exact"},{"name":"upregulation of aspartic-type endopeptidase activity involved in APP catabolic process","type":"exact"},{"name":"upregulation of aspartic-type endopeptidase activity involved in APP catabolism","type":"exact"},{"name":"upregulation of aspartic-type endopeptidase activity involved in amyloid precursor protein breakdown","type":"exact"},{"name":"upregulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic 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protease activity involved in APP catabolic process","type":"exact"},{"name":"upregulation of carboxyl protease activity involved in APP catabolism","type":"exact"},{"name":"upregulation of carboxyl protease activity involved in amyloid precursor protein breakdown","type":"exact"},{"name":"upregulation of carboxyl protease activity involved in amyloid precursor protein catabolic process","type":"exact"},{"name":"upregulation of carboxyl protease activity involved in amyloid precursor protein catabolism","type":"exact"},{"name":"upregulation of carboxyl protease activity involved in amyloid precursor protein degradation","type":"exact"}],"termid":"GO:1902961"}


id: MONDO:0008513
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the HOXD13 gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"non-syndromic synpolydactyly","termid":"MONDO:0000722"},{"relation_name":"is_a","term_name":"non-syndromic polydactyly","termid":"MONDO:0011348"},{"relation_name":"is_a","term_name":"polydactyly-syndactyly-triphalangism","termid":"MONDO:0800066"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"synpolydactyly type 1","secondary_identifiers":["UMLS:C5574994","icd11.foundation:1701170393","GARD:17358","Orphanet:295195","MEDGEN:1809573","OMIM:186000"],"synonyms":[{"name":"HOXD13 non-syndromic synpolydactyly","type":"exact"},{"name":"SD2, Vordingborg type","type":"exact"},{"name":"SD2a","type":"exact"},{"name":"SPD, Vordingborg type","type":"exact"},{"name":"SPD1","type":"exact"},{"name":"non-syndromic synpolydactyly caused by mutation in HOXD13","type":"exact"},{"name":"syndactyly, type 2","type":"related"},{"name":"synpolydactyly 1","type":"related"},{"name":"synpolydactyly type 1","type":"exact"},{"name":"synpolydactyly with foot anomalies","type":"related"},{"name":"synpolydactyly, Vordingborg type","type":"exact"}],"termid":"MONDO:0008513","xrefs":{"Monarch":{"xref_id":"0008513"}}}


id: PBO:0053805
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 1063","termid":"PBO:0053805"}


id: GO:0060965
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"A process that decreases the rate, frequency, or extent of gene silencing by a microRNA (miRNA).","definition_xrefs":["GOC:dph","PMID:23985560","GOC:tb","GOC:aruk","PMID:28379604","GOC:rl","GOC:bc"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of miRNA-mediated gene silencing","termid":"GO:0060964"},{"relation_name":"is_a","term_name":"negative regulation of post-transcriptional gene silencing by regulatory ncRNA","termid":"GO:1900369"},{"relation_name":"negatively_regulates","term_name":"miRNA-mediated post-transcriptional gene silencing","termid":"GO:0035195"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"regulates","termid":"GO:0010467"},{"rel_name":"positively_regulates","termid":"GO:0010467"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0010467","GO:0008150"],"is_obsolete":false,"name":"negative regulation of miRNA-mediated gene silencing","synonyms":[{"name":"negative regulation of gene silencing by miRNA","type":"exact"},{"name":"negative regulation of gene silencing by microRNA","type":"exact"}],"termid":"GO:0060965"}


id: GO:0004774
data:
  {"annotated_genes":["SJAG_03813","SJAG_01524"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[72126,75695],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0004775"}]},"cv_name":"molecular_function","definition":"Catalysis of the reaction: succinate + CoA + nucleotide triphosphate = nucleotide diphosphate + phosphate + succinyl-CoA.","definition_xrefs":["GOC:ai"],"direct_ancestors":[{"relation_name":"is_a","term_name":"acid-thiol ligase activity","termid":"GO:0016878"}],"gene_count":2,"genes_by_uniquename":{"SJAG_01524":null,"SJAG_03813":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0016874"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0003824"}],"interesting_parent_ids":["GO:0003674","GO:0003824","GO:0016874"],"is_obsolete":false,"name":"succinate-CoA ligase activity","references_by_uniquename":{"GO_REF:0000033":null},"termid":"GO:0004774","terms_by_termid":{"GO:0004775":null}}


id: PBO:0085870
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Protein of unknown function; highly induced in zinc-depleted conditions and has increased expression in NAP1 deletion mutants; VEL1 has a paralog, YOR387C, that arose from a single-locus duplication","termid":"PBO:0085870"}


id: MONDO:0007541
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"inherited disease susceptibility","termid":"MONDO:0020573"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"endometriosis, susceptibility to, 1","secondary_identifiers":["UMLS:C1851649","OMIM:131200","MEDGEN:338749"],"synonyms":[{"name":"ENDO1","type":"related"},{"name":"endometriosis, susceptibility to, 1","type":"exact"},{"name":"endometriosis, susceptibility to, type 1","type":"exact"}],"termid":"MONDO:0007541","xrefs":{"Monarch":{"xref_id":"0007541"}}}


id: MONDO:0002981
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A small round cell tumor with neural differentiation arising from the bone. It may be associated with pain.","definition_xrefs":["NCIT:C8776"],"direct_ancestors":[{"relation_name":"is_a","term_name":"bone cancer","termid":"MONDO:0002129"},{"relation_name":"is_a","term_name":"peripheral primitive neuroectodermal tumor","termid":"MONDO:0018271"},{"relation_name":"is_a","term_name":"Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone","termid":"MONDO:0021123"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0004992"}],"interesting_parent_ids":["MONDO:0004992"],"is_obsolete":false,"name":"peripheral primitive neuroectodermal tumor of bone","secondary_identifiers":["MEDGEN:163179","UMLS:C0855009","DOID:4388"],"synonyms":[{"name":"bone peripheral neuroepithelioma","type":"exact"},{"name":"bone tissue peripheral primitive neuroectodermal tumor","type":"exact"},{"name":"bone tissue peripheral primitive neuroectodermal tumour","type":"exact"},{"name":"osseous peripheral neuroepithelioma","type":"exact"},{"name":"peripheral neuroectodermal tumor of bone","type":"exact"},{"name":"peripheral neuroectodermal tumor of the bone","type":"exact"},{"name":"peripheral neuroectodermal tumour of bone","type":"exact"},{"name":"peripheral neuroectodermal tumour of the bone","type":"exact"},{"name":"peripheral neuroepithelioma of bone","type":"exact"},{"name":"peripheral neuroepithelioma of the bone","type":"exact"},{"name":"peripheral primitive neuroectodermal tumor of bone","type":"exact"},{"name":"peripheral primitive neuroectodermal tumor of bone tissue","type":"exact"},{"name":"peripheral primitive neuroectodermal tumour of bone tissue","type":"exact"}],"termid":"MONDO:0002981","xrefs":{"Monarch":{"xref_id":"0002981"}}}


id: PBO:0070172
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U7 small nuclear 86 pseudogene","termid":"PBO:0070172"}


id: PBO:0052507
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"kelch like family member 21","termid":"PBO:0052507"}


id: GO:0031140
data:
  {"annotated_genes":["SJAG_00781","SJAG_03735"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[98746],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0031141"},{"annotations":[115975],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0031142"}]},"cv_name":"biological_process","definition":"The process in which a cell initiates conjugation with cellular fusion upon starvation for one or more nutrients.","definition_xrefs":["GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"induction of conjugation with cellular fusion","termid":"GO:0010514"}],"gene_count":2,"genes_by_uniquename":{"SJAG_00781":null,"SJAG_03735":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"positively_regulates","termid":"GO:0000747"},{"rel_name":"regulates","termid":"GO:0000747"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150","GO:0000747"],"is_obsolete":false,"name":"induction of conjugation upon nutrient starvation","references_by_uniquename":{"GO_REF:0000107":null},"termid":"GO:0031140","terms_by_termid":{"GO:0031141":null,"GO:0031142":null}}


id: SO:0000012
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"The primary transcript of any one of several small cytoplasmic RNA molecules present in the cytoplasm and sometimes nucleus of a Eukaryote.","direct_ancestors":[{"relation_name":"is_a","term_name":"nc_primary_transcript","termid":"SO:0000483"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"scRNA_primary_transcript","synonyms":[{"name":"scRNA primary transcript","type":"exact"},{"name":"scRNA transcript","type":"exact"},{"name":"small cytoplasmic RNA","type":"related"},{"name":"small cytoplasmic RNA transcript","type":"exact"},{"name":"small_cytoplasmic_RNA","type":"related"}],"termid":"SO:0000012"}


id: PBO:0077086
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"tigger transposable element derived 1","termid":"PBO:0077086"}


id: PR:G2TRV0
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- wtf8 gene.","definition_xrefs":["PRO:DNx","UniProtKB:G2TRV0"],"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 wtf8 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPCC306.10","synonyms":[{"name":"Spom972h-wtf8","type":"exact"}],"termid":"PR:G2TRV0"}


id: MONDO:0027353
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A dyskeratosis congenita that has material basis in an autosomal recessive mutation of TERT on chromosome 5p15.33.","definition_xrefs":["DOID:0070021"],"direct_ancestors":[{"relation_name":"is_a","term_name":"dyskeratosis congenita","termid":"MONDO:0015780"}],"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":"autosomal recessive dyskeratosis congenita 4","secondary_identifiers":["UMLS:C3151444","MEDGEN:462794"],"synonyms":[{"name":"DKCB4","type":"exact"},{"name":"dyskeratosis congenita, autosomal recessive 4","type":"exact"}],"termid":"MONDO:0027353","xrefs":{"Monarch":{"xref_id":"0027353"}}}


id: MONDO:0012232
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"stutter disorder","termid":"MONDO:0000723"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"stuttering, familial persistent, 2","secondary_identifiers":["MESH:C563756","OMIM:609261","UMLS:C1836484","MEDGEN:332218"],"synonyms":[{"name":"STUT2","type":"exact"},{"name":"stuttering, familial persistent, 2","type":"exact"}],"termid":"MONDO:0012232","xrefs":{"Monarch":{"xref_id":"0012232"}}}


id: PBO:0070516
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein L6 pseudogene 15","termid":"PBO:0070516"}


id: PBO:0078585
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"tripartite motif containing 59","termid":"PBO:0078585"}


id: FYPO:0002485
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cellular process phenotype in which the occurrence of two meiotic reciprocal recombination events (crossovers) close to each other is decresed. As a result, the resolution of meiotic recombination intermediates results in the formation of a crossover at a lower frequency than normal, and the occurrence of intergenic meiotic recombination is decreased.","definition_xrefs":["PomBase:gs","PMID:22723423","PomBase:mah","PMID:16169489"],"direct_ancestors":[{"relation_name":"is_a","term_name":"decreased meiotic recombination","termid":"FYPO:0000485"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0000293"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0000631"}],"interesting_parent_ids":["FYPO:0000293","FYPO:0000002","FYPO:0005447","FYPO:0000631","FYPO:0001985"],"is_obsolete":false,"name":"decreased intergenic meiotic recombination","secondary_identifiers":["FYPO:0003180"],"synonyms":[{"name":"decreased meiotic intergenic recombination","type":"exact"},{"name":"decreased occurrence of meiotic cross-overs","type":"related"},{"name":"decreased resolution of meiotic recombination intermediates with crossover formation","type":"exact"},{"name":"reduced intergenic meiotic recombination","type":"exact"},{"name":"reduced resolution of meiotic recombination intermediates with crossover formation","type":"exact"}],"termid":"FYPO:0002485"}


id: MONDO:0017547
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"congenital vertical talus","termid":"MONDO:0008652"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"congenital vertical talus, bilateral","secondary_identifiers":["icd11.foundation:1224987332","MEDGEN:349821","Orphanet:295203","UMLS:C1860446","GARD:21218"],"termid":"MONDO:0017547","xrefs":{"Monarch":{"xref_id":"0017547"}}}


id: PBO:0091923
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"tRNA pseudouridine synthase Pus3","termid":"PBO:0091923"}


id: GO:1902755
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways involving sulfurated eukaryotic molybdenum cofactor(2-).","definition_xrefs":["PMID:18258600","GOC:dph","GOC:TermGenie","GO_REF:0000068"],"direct_ancestors":[{"relation_name":"is_a","term_name":"phosphorus metabolic process","termid":"GO:0006793"}],"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":"sulfurated eukaryotic molybdenum cofactor(2-) metabolic process","synonyms":[{"name":"sulfurated eukaryotic molybdenum cofactor(2-) metabolism","type":"exact"}],"termid":"GO:1902755"}


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


id: PBO:0050636
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"HSFY1 pseudogene 1","termid":"PBO:0050636"}


id: PBO:0054686
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 2094","termid":"PBO:0054686"}


id: PBO:0067786
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, 5S ribosomal pseudogene 88","termid":"PBO:0067786"}


id: FYPO:0001343
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cellular process phenotype in which DNA replication is abnormal in the vegetative growth phase of the life cycle.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal DNA replication","termid":"FYPO:0000217"},{"relation_name":"is_a","term_name":"DNA metabolism phenotype during vegetative growth","termid":"FYPO:0001346"},{"relation_name":"is_a","term_name":"abnormal cellular process during vegetative growth","termid":"FYPO:0001362"},{"relation_name":"is_a","term_name":"abnormal mitotic cell cycle process","termid":"FYPO:0002737"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000293"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0000631"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0005447"}],"interesting_parent_ids":["FYPO:0000293","FYPO:0001320","FYPO:0000002","FYPO:0005447","FYPO:0000631","FYPO:0001985"],"is_obsolete":false,"name":"abnormal mitotic DNA replication","synonyms":[{"name":"abnormal DNA replication during mitotic cell cycle","type":"exact"},{"name":"abnormal DNA replication during vegetative growth","type":"exact"},{"name":"abnormal DNA-dependent DNA replication during vegetative growth","type":"exact"}],"termid":"FYPO:0001343"}


id: PBO:0085136
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Nucleolar protein required for export of tRNAs from the nucleus; also copurifies with the small subunit (SSU) processome containing the U3 snoRNA that is involved in processing of pre-18S rRNA","termid":"PBO:0085136"}


id: PBO:0076240
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"sushi domain containing 2 pseudogene 1","termid":"PBO:0076240"}


id: MONDO:0004245
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A tumor arising from the ependymal lining of the ventricles.","definition_xrefs":["NCIT:C3861"],"direct_ancestors":[{"relation_name":"is_a","term_name":"ependymal tumor","termid":"MONDO:0003266"},{"relation_name":"is_a","term_name":"brain glioma","termid":"MONDO:0005499"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0004992"}],"interesting_parent_ids":["MONDO:0004992"],"is_obsolete":false,"name":"ependymal tumor of brain","secondary_identifiers":["MEDGEN:116038","DOID:7497","SCTID:254939008","UMLS:C0238029"],"synonyms":[{"name":"brain ependymal tumor","type":"exact"},{"name":"brain ependymal tumour","type":"exact"},{"name":"brain ependymoma","type":"related"},{"name":"ependymal tumor of brain","type":"exact"},{"name":"ependymoma of brain","type":"exact"}],"termid":"MONDO:0004245","xrefs":{"Monarch":{"xref_id":"0004245"}}}


id: PBO:0060072
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"MT-ND5 pseudogene 19","termid":"PBO:0060072"}


id: GO:1902258
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that activates or increases the frequency, rate or extent of apoptotic process involved in outflow tract morphogenesis.","definition_xrefs":["GOC:dph","PMID:16839542","GOC:TermGenie","GOC:mtg_apoptosis"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of apoptotic process involved in outflow tract morphogenesis","termid":"GO:1902256"},{"relation_name":"is_a","term_name":"positive regulation of apoptotic process involved in morphogenesis","termid":"GO:1902339"},{"relation_name":"positively_regulates","term_name":"apoptotic process involved in outflow tract morphogenesis","termid":"GO:0003275"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"positive regulation of apoptotic process involved in outflow tract morphogenesis","synonyms":[{"name":"activation of apoptosis involved in outflow tract morphogenesis","type":"narrow"},{"name":"activation of apoptotic process involved in outflow tract morphogenesis","type":"narrow"},{"name":"positive regulation of apoptosis involved in outflow tract morphogenesis","type":"narrow"},{"name":"up regulation of apoptosis involved in outflow tract morphogenesis","type":"narrow"},{"name":"up regulation of apoptotic process involved in outflow tract morphogenesis","type":"exact"},{"name":"up-regulation of apoptosis involved in outflow tract morphogenesis","type":"narrow"},{"name":"up-regulation of apoptotic process involved in outflow tract morphogenesis","type":"exact"},{"name":"upregulation of apoptosis involved in outflow tract morphogenesis","type":"narrow"},{"name":"upregulation of apoptotic process involved in outflow tract morphogenesis","type":"exact"}],"termid":"GO:1902258"}


id: FYPO:0007664
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 a cell contains one nucleus and one septum. The septum divides the cell into two compartments, one of which contains the nucleus.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"mononucleate vegetative cell","termid":"FYPO:0000060"},{"relation_name":"is_a","term_name":"septated vegetative cell","termid":"FYPO:0002342"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0000002"}],"interesting_parent_ids":["FYPO:0000002","FYPO:0001320"],"is_obsolete":false,"name":"mononucleate monoseptate vegetative cell with anucleate compartment","synonyms":[{"name":"displaced nucleus with septum","type":"related"},{"name":"mononucleate monoseptate cell during vegetative growth","type":"exact"},{"name":"mononucleate monoseptate vegetative cell","type":"exact"},{"name":"mononucleate monoseptate vegetative cell during mitotic cell cycle","type":"related"},{"name":"monoseptate vegetative cell with mononucleate and anucleate compartments","type":"exact"},{"name":"septation in the absence of nuclear division","type":"related"},{"name":"septation independent of mitosis","type":"related"},{"name":"septation without nuclear division","type":"related"}],"termid":"FYPO:0007664"}


id: PBO:0047740
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"fibronectin type III domain containing 3C, pseudogene","termid":"PBO:0047740"}


id: GO:0070893
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. Any process in which a transposable element is incorporated into another DNA molecule such as a chromosome.","definition_xrefs":["PMID:10882723","GOC:jp"],"gene_count":0,"genotype_count":0,"name":"obsolete transposon integration (obsolete GO:0070893)","termid":"GO:0070893"}


id: PBO:0081096
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"zinc finger DHHC-type palmitoyltransferase 21","termid":"PBO:0081096"}


id: GO:0106032
data:
  {"annotated_genes":["SJAG_04754","SJAG_03572","SJAG_00088"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[95693,106593,114684],"is_not":false,"summary":null,"term":"GO:0106032"}]},"cv_name":"molecular_function","definition":"Catalysis of the reaction: uridine in snRNA = pseudouridine in snRNA. Conversion of uridine in an snRNA molecule to pseudouridine by rotation of the C1'-N-1 glycosidic bond of uridine in RNA to a C1'-C5.","definition_xrefs":["PMID:28432181","RHEA:51124"],"direct_ancestors":[{"relation_name":"is_a","term_name":"pseudouridine synthase activity","termid":"GO:0009982"},{"relation_name":"is_a","term_name":"catalytic activity, acting on RNA","termid":"GO:0140098"}],"gene_count":3,"genes_by_uniquename":{"SJAG_00088":null,"SJAG_03572":null,"SJAG_04754":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0140098"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0016853"},{"rel_name":"is_a","termid":"GO:0003824"}],"interesting_parent_ids":["GO:0003824","GO:0140098","GO:0003674","GO:0016853"],"is_obsolete":false,"name":"snRNA pseudouridine synthase activity","references_by_uniquename":{"GO_REF:0000107":null},"termid":"GO:0106032","terms_by_termid":{"GO:0106032":null}}


id: GO:0000473
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process involved in the maturation of a precursor Large SubUnit (LSU) ribosomal RNA (rRNA) molecule into a mature LSU-rRNA molecule from the pre-rRNA molecule originally produced as a tetracistronic rRNA transcript that contains the Small Subunit (SSU) rRNA, 5.8 S rRNA, 2S rRNA, and Large Subunit (LSU) in that order from 5' to 3' along the primary transcript.","definition_xrefs":["GOC:curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"maturation of LSU-rRNA","termid":"GO:0000470"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"part_of","termid":"GO:0010467"},{"rel_name":"part_of","termid":"GO:0044085"},{"rel_name":"part_of","termid":"GO:0042254"}],"interesting_parent_ids":["GO:0044085","GO:0008150","GO:0042254","GO:0010467"],"is_obsolete":false,"name":"maturation of LSU-rRNA from tetracistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, 2S rRNA, LSU-rRNA)","termid":"GO:0000473"}


id: PBO:0002621
data:
  {"annotation_feature_type":"gene","cv_name":"EC numbers","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"4.1.1.17","termid":"PBO:0002621"}


id: GO:0020023
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"A sub-structure within the large single mitochondrion of kinetoplastid parasites and which is closely associated with the flagellar pocket and basal body of the flagellum.","definition_xrefs":["GOC:mb"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cellular anatomical structure","termid":"GO:0110165"},{"relation_name":"part_of","term_name":"mitochondrion","termid":"GO:0005739"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"part_of","termid":"GO:0005739"},{"rel_name":"is_a","termid":"GO:0005575"},{"rel_name":"part_of","termid":"GO:0005737"}],"interesting_parent_ids":["GO:0005739","GO:0005575","GO:0005737"],"is_obsolete":false,"name":"kinetoplast","secondary_identifiers":["Wikipedia:Kinetoplast"],"termid":"GO:0020023"}


id: MONDO:0033367
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"developmental and epileptic encephalopathy","termid":"MONDO:0100062"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005027"},{"rel_name":"is_a","termid":"MONDO:0700092"}],"interesting_parent_ids":["MONDO:0700092","MONDO:0005027"],"is_obsolete":false,"name":"developmental and epileptic encephalopathy, 58","secondary_identifiers":["DOID:0080285","GARD:16259","OMIM:617830","UMLS:C4693367","MEDGEN:1646861"],"synonyms":[{"name":"DEE58","type":"exact"},{"name":"EIEE58","type":"exact"},{"name":"developmental and epileptic encephalopathy 58","type":"exact"},{"name":"epileptic encephalopathy, early infantile, 58","type":"exact"},{"name":"infantile epileptic encephalopathy 58","type":"exact"}],"termid":"MONDO:0033367","xrefs":{"Monarch":{"xref_id":"0033367"}}}


id: PBO:0040970
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"BCL2 interacting protein 3 pseudogene 41","termid":"PBO:0040970"}


id: MONDO:0800415
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"inherited susceptibility to asthma","termid":"MONDO:0010940"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"asthma, aspirin-induced, susceptibility to","secondary_identifiers":["MEDGEN:362637","UMLS:C1876174"],"termid":"MONDO:0800415","xrefs":{"Monarch":{"xref_id":"0800415"}}}


id: PBO:0072957
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"sciellin","termid":"PBO:0072957"}


id: MONDO:0044617
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"skin disorder","termid":"MONDO:0005093"},{"relation_name":"excluded_subClassOf","term_name":"dysostosis","termid":"MONDO:0018234"},{"relation_name":"excluded_subClassOf","term_name":"obsolete dysostosis of genetic origin (obsolete MONDO:0018454)","termid":"MONDO:0018454"},{"relation_name":"excluded_subClassOf","term_name":"epidermal disease","termid":"MONDO:0019268"},{"relation_name":"excluded_subClassOf","term_name":"filamin-related bone disorder","termid":"MONDO:0019690"},{"relation_name":"is_a","term_name":"syndromic disease","termid":"MONDO:0002254"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome","secondary_identifiers":["UMLS:C5567520","MEDGEN:1798943","Orphanet:482606","GARD:21990"],"termid":"MONDO:0044617","xrefs":{"Monarch":{"xref_id":"0044617"}}}


id: MONDO:0008386
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth.","definition_xrefs":["NCIT:C75015"],"direct_ancestors":[{"relation_name":"is_a","term_name":"Axenfeld-Rieger syndrome","termid":"MONDO:0019187"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Axenfeld-Rieger syndrome type 1","secondary_identifiers":["DOID:0110120","OMIM:180500","GARD:10281","MEDGEN:811487","UMLS:C3714873"],"synonyms":[{"name":"Axenfeld-Rieger syndrome caused by mutation in PITX2","type":"exact"},{"name":"Axenfeld-Rieger syndrome type 1","type":"exact"},{"name":"Axenfeld-Rieger syndrome, type 1","type":"related"},{"name":"PITX2 Axenfeld-Rieger syndrome","type":"exact"},{"name":"RIEG1","type":"exact"},{"name":"Rgs","type":"related"},{"name":"Rieg","type":"related"},{"name":"Rieger syndrome type 1","type":"exact"},{"name":"Rieger syndrome, type 1","type":"related"}],"termid":"MONDO:0008386","xrefs":{"Monarch":{"xref_id":"0008386"}}}


id: GO:2000113
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. Any process that stops, prevents, or reduces the frequency, rate or extent of cellular macromolecule biosynthetic process.","definition_xrefs":["GOC:obol"],"gene_count":0,"genotype_count":0,"name":"obsolete negative regulation of cellular macromolecule biosynthetic process (obsolete GO:2000113)","synonyms":[{"name":"negative regulation of cellular biopolymer biosynthetic process","type":"exact"},{"name":"negative regulation of cellular macromolecule anabolism","type":"exact"},{"name":"negative regulation of cellular macromolecule biosynthesis","type":"exact"},{"name":"negative regulation of cellular macromolecule formation","type":"exact"},{"name":"negative regulation of cellular macromolecule synthesis","type":"exact"}],"termid":"GO:2000113"}


id: GO:0099103
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Direct interaction with a channel (binding or modification), resulting in its opening. A channel catalyzes energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel.","definition_xrefs":["GOC:dos"],"direct_ancestors":[{"relation_name":"is_a","term_name":"channel regulator activity","termid":"GO:0016247"},{"relation_name":"is_a","term_name":"transporter activator activity","termid":"GO:0141109"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0140677"},{"rel_name":"is_a","termid":"GO:0098772"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0003674","GO:0140677","GO:0098772"],"is_obsolete":false,"name":"channel activator activity","synonyms":[{"name":"channel gating activity","type":"exact"}],"termid":"GO:0099103"}


id: MONDO:0043707
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"OBSOLETE. A non-neoplastic or neoplastic disorder that affects the structures of the mediastinum. Representative examples include mediastinitis, mediastinal lipoma, mediastinal schwannoma, thymoma, and mediastinal lymphoma.","definition_xrefs":["NCIT:C26826"],"gene_count":0,"genotype_count":0,"name":"obsolete mediastinal disorder (obsolete MONDO:0043707)","secondary_identifiers":["MESH:D008477","SCTID:49483002"],"synonyms":[{"name":"disease of mediastinum","type":"exact"},{"name":"disease or disorder of mediastinum","type":"exact"},{"name":"disease, mediastinal","type":"related"},{"name":"diseases, mediastinal","type":"related"},{"name":"disorder of mediastinum","type":"exact"},{"name":"mediastinal disease","type":"exact"},{"name":"mediastinal disorder","type":"exact"},{"name":"mediastinum disease","type":"exact"},{"name":"mediastinum disease or disorder","type":"exact"}],"termid":"MONDO:0043707","xrefs":{"Monarch":{"xref_id":"0043707"}}}


id: GO:0032876
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents, or reduces the frequency, rate or extent of DNA endoreduplication.","definition_xrefs":["GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"negative regulation of cell cycle process","termid":"GO:0010948"},{"relation_name":"is_a","term_name":"regulation of DNA endoreduplication","termid":"GO:0032875"},{"relation_name":"is_a","term_name":"negative regulation of DNA-templated DNA replication","termid":"GO:2000104"},{"relation_name":"negatively_regulates","term_name":"DNA endoreduplication","termid":"GO:0042023"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"negatively_regulates","termid":"GO:0006259"},{"rel_name":"negatively_regulates","termid":"GO:0006260"},{"rel_name":"regulates","termid":"GO:0006260"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"regulates","termid":"GO:0006259"},{"rel_name":"negatively_regulates","termid":"GO:0007049"},{"rel_name":"regulates","termid":"GO:0007049"}],"interesting_parent_ids":["GO:0006260","GO:0008150","GO:0006259","GO:0007049"],"is_obsolete":false,"name":"negative regulation of DNA endoreduplication","synonyms":[{"name":"down regulation of DNA endoreduplication","type":"exact"},{"name":"down-regulation of DNA endoreduplication","type":"exact"},{"name":"downregulation of DNA endoreduplication","type":"exact"},{"name":"inhibition of DNA endoreduplication","type":"narrow"},{"name":"negative regulation of DNA endoreplication","type":"exact"},{"name":"negative regulation of DNA re-duplication","type":"exact"}],"termid":"GO:0032876"}


id: MONDO:1011856
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"nervous system disorder, non-human animal","termid":"MONDO:1011336"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"progressive axonopathy, non-human animal","secondary_identifiers":["OMIA:000825"],"termid":"MONDO:1011856","xrefs":{"Monarch":{"xref_id":"1011856"}}}


id: PBO:0077000
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"THAP domain containing 12 pseudogene 2","termid":"PBO:0077000"}


id: SO:0000187
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"A group of characterized repeat sequences.","definition_xrefs":["SO:ke"],"gene_count":0,"genotype_count":0,"name":"OBSOLETE SO:0000187 repeat_family (obsolete SO:0000187)","termid":"SO:0000187"}


id: PBO:0082599
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Clathrin coat accessory factor; involved in clathrin-mediated vesicle trafficking; may function to link the AP-1 clathrin adaptor complex with the Rab GTPase Ypt31p; has structural similarity to G-proteins; mouse homolog Aagab (p34) functionally complements irc6 null mutation; null mutant displays increased levels of spontaneous Rad52p foci","termid":"PBO:0082599"}


id: PBO:0027818
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-increased_level_of_amino_acid_catabolism_gene_mRNA_during_vegetative_growth","termid":"PBO:0027818"}


id: MONDO:0001176
data:
  {"annotated_genes":["SJAG_01242","SJAG_00624","SJAG_02645","SJAG_04567","SJAG_01745","SJAG_00750","SJAG_03815","SJAG_00404","SJAG_00582","SJAG_02919","SJAG_03581"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[87245,87247,87246],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0013411"},{"annotations":[87260],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0011547"},{"annotations":[86644],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0013859"},{"annotations":[85770],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0014565"},{"annotations":[85427],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0014673"},{"annotations":[86322],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0008925"},{"annotations":[87441,87442],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0032735"},{"annotations":[85724,85725,85723],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0011413"},{"annotations":[85661],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0009352"}]},"cv_name":"mondo","definition":"A disease involving the lens of camera-type eye.","direct_ancestors":[{"relation_name":"is_a","term_name":"eye disorder","termid":"MONDO:0005328"}],"gene_count":11,"genes_by_uniquename":{"SJAG_00404":null,"SJAG_00582":null,"SJAG_00624":null,"SJAG_00750":null,"SJAG_01242":null,"SJAG_01745":null,"SJAG_02645":null,"SJAG_02919":null,"SJAG_03581":null,"SJAG_03815":null,"SJAG_04567":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005328"}],"interesting_parent_ids":["MONDO:0005328"],"is_obsolete":false,"name":"lens disorder","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["UMLS:C0549651","DOID:110","MEDGEN:892382","MESH:D007905","ICD9:379.39","SCTID:10810001","EFO:0009674","ICD10CM:H25-H28","NCIT:C26812"],"synonyms":[{"name":"disease of lens of camera-type eye","type":"exact"},{"name":"disease or disorder of lens of camera-type eye","type":"exact"},{"name":"disorder of lens of camera-type eye","type":"exact"},{"name":"lens disorder","type":"exact"},{"name":"lens of camera-type eye disease","type":"exact"},{"name":"lens of camera-type eye disease or disorder","type":"exact"}],"termid":"MONDO:0001176","terms_by_termid":{"MONDO:0008925":null,"MONDO:0009352":null,"MONDO:0011413":null,"MONDO:0011547":null,"MONDO:0013411":null,"MONDO:0013859":null,"MONDO:0014565":null,"MONDO:0014673":null,"MONDO:0032735":null},"xrefs":{"Monarch":{"xref_id":"0001176"}}}


id: PR:O14423
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A major centromere autoantigen B that is encoded in the genome of Schizosaccharomyces pombe 972h-.","definition_xrefs":["PRO:DNx"],"direct_ancestors":[{"relation_name":"is_a","term_name":"Schizosaccharomyces pombe 972h- protein","termid":"PR:000029043"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"CENP-B homolog protein 1 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAC9E9.10c","secondary_identifiers":["UniProtKB:O14423"],"synonyms":[{"name":"CBHP-1 (Schizosaccharomyces pombe 972h-)","type":"exact"},{"name":"SPAC9E9.10c","type":"related"},{"name":"Spom972h-CENPB","type":"exact"},{"name":"cbh","type":"related"}],"termid":"PR:O14423"}


id: PBO:0054117
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 1483","termid":"PBO:0054117"}


id: GO:0010536
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. Any process that increases the frequency or rate of activation of JAK (Janus Activated Kinase) protein. The activation of JAK protein is the process of introducing a phosphate group to a tyrosine residue of a JAK (Janus Activated Kinase) protein, thereby activating it.","definition_xrefs":["GOC:dph","PMID:9135582","GOC:tb"],"gene_count":0,"genotype_count":0,"name":"obsolete positive regulation of activation of Janus kinase activity (obsolete GO:0010536)","synonyms":[{"name":"positive regulation of activation of JAK protein","type":"exact"},{"name":"positive regulation of activation of JAK1 kinase activity","type":"narrow"},{"name":"positive regulation of activation of JAK1 protein","type":"narrow"},{"name":"positive regulation of activation of JAK2 kinase activity","type":"narrow"},{"name":"positive regulation of activation of JAK2 protein","type":"narrow"},{"name":"positive regulation of tyrosine phosphorylation of JAK protein","type":"related"},{"name":"positive regulation of tyrosine phosphorylation of JAK1 protein","type":"narrow"},{"name":"positive regulation of tyrosine phosphorylation of JAK2 protein","type":"narrow"}],"termid":"GO:0010536"}


id: FYPO:0005679
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cellular process phenotype observed in the vegetative growth phase of the life cycle in which the deubiquitination of one or more specific proteins, or of specific protein sites, occurs to a lower extent than normal after cells have been exposed to hydroxyurea.","definition_xrefs":["PMID:27151298","PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"decreased proteolysis during vegetative growth","termid":"FYPO:0005443"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0002494"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0002274"},{"rel_name":"is_a","termid":"FYPO:0000002"}],"interesting_parent_ids":["FYPO:0005447","FYPO:0002494","FYPO:0001320","FYPO:0002274","FYPO:0000002","FYPO:0001985"],"is_obsolete":false,"name":"decreased protein deubiquitination following cellular response to hydroxyurea during vegetative growth","synonyms":[{"name":"decreased protein deubiquitination during cellular response to hydroxyurea","type":"related"},{"name":"decreased protein deubiquitination following cellular response to HU","type":"exact"},{"name":"decreased protein deubiquitination following cellular response to hydroxyurea during mitotic cell cycle","type":"related"},{"name":"decreased protein deubiquitylation following cellular response to hydroxyurea","type":"exact"},{"name":"reduced protein deubiquitination following cellular response to hydroxyurea","type":"exact"}],"termid":"FYPO:0005679"}


id: GO:0009961
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a 1-aminocyclopropane-1-carboxylic acid stimulus.","definition_xrefs":["GOC:jl"],"direct_ancestors":[{"relation_name":"is_a","term_name":"response to amino acid","termid":"GO:0043200"},{"relation_name":"is_a","term_name":"response to nitrogen compound","termid":"GO:1901698"},{"relation_name":"is_a","term_name":"response to oxygen-containing compound","termid":"GO:1901700"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"response to 1-aminocyclopropane-1-carboxylic acid","termid":"GO:0009961"}


id: PBO:0031820
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-increased_frequency_of_apoptosis","termid":"PBO:0031820"}


id: PBO:0078427
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"tRNA-Gly (anticodon GCC) 4-1","termid":"PBO:0078427"}


id: GO:0035842
data:
  {"annotated_genes":["SJAG_02838"],"annotation_feature_type":"gene","cv_annotations":{"cellular_component":[{"annotations":[111134],"is_not":false,"summary":null,"term":"GO:0035842"}]},"cv_name":"cellular_component","definition":"A cell tip which has existed for at least one complete cell cycle, and at which polarized growth occurs, which is part of a cell that has activated bipolar cell growth (i.e. in which new end take-off, NETO, has taken place). For example, in fission yeast the cell end that existed prior to cell division grows immediately after division, and contains a distinctive complement of proteins including actin cytoskeletal structures.","definition_xrefs":["GOC:expert_jd","GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"old growing cell tip","termid":"GO:0035840"}],"gene_count":1,"genes_by_uniquename":{"SJAG_02838":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005575"}],"interesting_parent_ids":["GO:0005575"],"is_obsolete":false,"name":"old cell tip after activation of bipolar cell growth","references_by_uniquename":{"GO_REF:0000107":null},"synonyms":[{"name":"post-NETO old cell end","type":"exact"},{"name":"post-NETO old cell tip","type":"exact"},{"name":"post-new end take-off old cell tip","type":"exact"}],"termid":"GO:0035842","terms_by_termid":{"GO:0035842":null}}


id: MONDO:0014542
data:
  {"annotated_genes":["SJAG_04821"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[85742],"is_not":false,"summary":null,"term":"MONDO:0014542"}]},"cv_name":"mondo","definition":"Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"congenital nervous system disorder","termid":"MONDO:0002320"},{"relation_name":"is_a","term_name":"congenital myasthenic syndrome","termid":"MONDO:0018940"},{"relation_name":"is_a","term_name":"ALG14-congenital disorder of glycosylation","termid":"MONDO:0100559"}],"gene_count":1,"genes_by_uniquename":{"SJAG_04821":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005066"},{"rel_name":"is_a","termid":"MONDO:0024322"},{"rel_name":"is_a","termid":"MONDO:0002320"}],"interesting_parent_ids":["MONDO:0005066","MONDO:0024322","MONDO:0002320"],"is_obsolete":false,"name":"congenital myasthenic syndrome 15","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["GARD:18453","OMIM:616227","DOID:0110658","UMLS:C4015596","MEDGEN:864033"],"synonyms":[{"name":"ALG14 congenital myasthenic syndrome","type":"exact"},{"name":"CMS15","type":"exact"},{"name":"congenital myasthenic syndrome 15 without tubular aggregates","type":"exact"},{"name":"congenital myasthenic syndrome caused by mutation in ALG14","type":"exact"},{"name":"congenital myasthenic syndrome type 15","type":"exact"},{"name":"myasthenic syndrome, congenital, 15","type":"related"},{"name":"myasthenic syndrome, congenital, 15, without tubular aggregates","type":"exact"},{"name":"myasthenic syndrome, congenital, type 15","type":"exact"},{"name":"myasthenic syndrome, congenital, without tubular aggregates","type":"related"}],"termid":"MONDO:0014542","terms_by_termid":{"MONDO:0014542":null},"xrefs":{"Monarch":{"xref_id":"0014542"}}}


id: MONDO:0004154
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete central nervous system embryonal carcinoma (obsolete MONDO:0004154)","termid":"MONDO:0004154","xrefs":{"Monarch":{"xref_id":"0004154"}}}


id: GO:0085033
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"A process that initiates, promotes, or enhances a host NF-kappaB-mediated signaling cascade. The host is defined as the larger of the organisms involved in a symbiotic interaction.","definition_xrefs":["PMID:17490702","PMID:7845680","PMID:11907233","PMID:21199955","PMID:31311877","PMID:21098302"],"direct_ancestors":[{"relation_name":"is_a","term_name":"symbiont-mediated activation of host signal transduction pathway","termid":"GO:0052028"},{"relation_name":"is_a","term_name":"symbiont-mediated perturbation of host NF-kappaB cascade","termid":"GO:0085032"}],"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":"symbiont-mediated activation of host NF-kappaB cascade","secondary_identifiers":["VZ:841"],"synonyms":[{"name":"activation by symbiont of host I-kappaB kinase/NF-kappaB cascade","type":"exact"},{"name":"induction by symbiont of host I-kappaB kinase/NF-kappaB cascade","type":"exact"},{"name":"induction of host I-kappaB kinase/NF-kappaB cascade","type":"exact"},{"name":"induction of host canonical NF-kappaB signal transduction","type":"exact"},{"name":"positive regulation by symbiont of host I-kappaB kinase/NF-kappaB cascade","type":"exact"},{"name":"positive regulation by symbiont of host NF-kappaB-mediated signal transduction pathway","type":"exact"},{"name":"stimulation by symbiont of host I-kappaB kinase/NF-kappaB cascade","type":"exact"},{"name":"symbiont-mediated activation of host NF-kappaB signal transduction","type":"exact"},{"name":"symbiont-mediated activation of host canonical NF-kappaB signal transduction","type":"related"},{"name":"up regulation by symbiont of host I-kappaB kinase/NF-kappaB cascade","type":"exact"},{"name":"up-regulation by symbiont of host I-kappaB kinase/NF-kappaB cascade","type":"exact"},{"name":"upregulation by symbiont of host I-kappaB kinase/NF-kappaB cascade","type":"exact"}],"termid":"GO:0085033"}


id: GO:0021606
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"A developmental process, independent of morphogenetic (shape) change, that is required for the accessory nerve to attain its fully functional state. The spinal branch of this motor nerve innervates the trapezius and the sternocleidomastoid muscles. The cranial branch joins the vagus nerve and innervates the same targets as the vagus nerve.","definition_xrefs":["ISBN:0838580343","GO_REF:0000021","GOC:cls","GOC:dgh","GOC:dph","GOC:jid"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cranial nerve maturation","termid":"GO:0021605"},{"relation_name":"part_of","term_name":"accessory nerve development","termid":"GO:0021565"}],"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":"accessory nerve maturation","synonyms":[{"name":"CN XI maturation","type":"related"},{"name":"spinal accessory nerve maturation","type":"related"}],"termid":"GO:0021606"}


id: PBO:0046744
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"exocyst complex component 3","termid":"PBO:0046744"}


id: GO:1902036
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of hematopoietic stem cell differentiation.","definition_xrefs":["PMID:23403623","GOC:TermGenie"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of hematopoietic progenitor cell differentiation","termid":"GO:1901532"},{"relation_name":"is_a","term_name":"regulation of stem cell differentiation","termid":"GO:2000736"},{"relation_name":"regulates","term_name":"hematopoietic stem cell differentiation","termid":"GO:0060218"}],"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 hematopoietic stem cell differentiation","secondary_identifiers":["Reactome:R-HSA-8939236"],"synonyms":[{"name":"regulation of haematopoietic stem cell differentiation","type":"exact"},{"name":"regulation of haemopoietic stem cell differentiation","type":"exact"},{"name":"regulation of hemopoietic stem cell differentiation","type":"exact"}],"termid":"GO:1902036"}


id: PBO:0047072
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"family with sequence similarity 133 member A","termid":"PBO:0047072"}


id: PBO:0049481
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"H1.5 linker histone, cluster member","termid":"PBO:0049481"}


id: PR:Q9UT70
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A trafficking protein particle complex subunit 1 that is encoded in the genome of Schizosaccharomyces pombe 972h-.","definition_xrefs":["PANTHER:PTHR23249:SF9","OMA:SCHPO01316","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":"transport protein particle subunit bet5 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAC3G9.16c","secondary_identifiers":["UniProtKB:Q9UT70"],"synonyms":[{"name":"Spom972h-TRAPPC1","type":"exact"}],"termid":"PR:Q9UT70"}


id: PBO:0079962
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ubiquitin specific peptidase 9 Y-linked","termid":"PBO:0079962"}


id: PBO:0084141
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"High-affinity glucose transporter; member of the major facilitator superfamily, nearly identical to Hxt6p, expressed at high basal levels relative to other HXTs, expression repressed by high glucose levels; HXT7 has a paralog, HXT4, that arose from the whole genome duplication","termid":"PBO:0084141"}


id: PBO:0056356
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"MAP9 antisense RNA 1","termid":"PBO:0056356"}


id: MONDO:0030454
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"Joubert syndrome","termid":"MONDO:0018772"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Joubert syndrome 39","secondary_identifiers":["UMLS:C5562000","MEDGEN:1794210","OMIM:619562"],"synonyms":[{"name":"JBTS39","type":"exact"}],"termid":"MONDO:0030454","xrefs":{"Monarch":{"xref_id":"0030454"}}}


id: MONDO:0016384
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia.","definition_xrefs":["Orphanet:2230"],"direct_ancestors":[{"relation_name":"is_a","term_name":"congenital hypogonadotropic hypogonadism","termid":"MONDO:0015770"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"hypogonadotropic hypogonadism-frontoparietal alopecia syndrome","secondary_identifiers":["UMLS:C4303079","GARD:324","MEDGEN:928748","SCTID:721842008","ICD10CM:E23.0"],"synonyms":[{"name":"Salti-Salem syndrome","type":"exact"}],"termid":"MONDO:0016384","xrefs":{"Monarch":{"xref_id":"0016384"}}}


id: GO:0019772
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Combining with low affinity with an immunoglobulin of an IgG isotype via the Fc region, and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity.","definition_xrefs":["GOC:add","ISBN:0781735149","GOC:signaling"],"direct_ancestors":[{"relation_name":"is_a","term_name":"IgG receptor activity","termid":"GO:0019770"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0038023"}],"interesting_parent_ids":["GO:0003674","GO:0038023"],"is_obsolete":false,"name":"low-affinity IgG receptor activity","synonyms":[{"name":"low affinity Fc receptor activity","type":"related"},{"name":"low affinity IgG receptor activity","type":"exact"}],"termid":"GO:0019772"}


id: PBO:0089460
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"anaphase-promoting complex platform subcomplex scaffold WD repeat subunit Apc4/Cut20","termid":"PBO:0089460"}


id: PATO:0002308
data:
  {"annotation_feature_type":"gene","cv_name":"quality","definition":"A triangular quality inhering in a bearer by virtue of the bearer's having all sides of unequal length.","definition_xrefs":["PATOC:JB"],"direct_ancestors":[{"relation_name":"is_a","term_name":"triangular","termid":"PATO:0001875"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"scalene triangular","termid":"PATO:0002308"}


id: MONDO:0035785
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete non-syndromic anorectal malformation with vestibular fistula (obsolete MONDO:0035785)","secondary_identifiers":["Orphanet:600993"],"termid":"MONDO:0035785","xrefs":{"Monarch":{"xref_id":"0035785"}}}


id: PBO:0079426
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"tubulin beta class I pseudogene 9","termid":"PBO:0079426"}


id: GO:1902457
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents or reduces the frequency, rate or extent of stomatal opening.","definition_xrefs":["GOC:TermGenie","PMID:23766366"],"direct_ancestors":[{"relation_name":"is_a","term_name":"negative regulation of cellular process","termid":"GO:0048523"},{"relation_name":"is_a","term_name":"regulation of stomatal opening","termid":"GO:1902456"},{"relation_name":"negatively_regulates","term_name":"stomatal opening","termid":"GO:1990069"}],"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 stomatal opening","synonyms":[{"name":"down regulation of stomatal opening","type":"exact"},{"name":"down-regulation of stomatal opening","type":"exact"},{"name":"downregulation of stomatal opening","type":"exact"},{"name":"inhibition of stomatal opening","type":"narrow"}],"termid":"GO:1902457"}


id: MOD:00332
data:
  {"annotation_feature_type":"gene","cv_name":"PSI-MOD","definition":"A protein modification that effectively converts an L-arginine residue to N4-glucosyl-arginine.","definition_xrefs":["Unimod:41#R","RESID:AA0327","PubMed:9536051","PubMed:15279557","PubMed:8521968"],"direct_ancestors":[{"relation_name":"is_a","term_name":"glucosylated residue","termid":"MOD:00433"},{"relation_name":"is_a","term_name":"monohexosylated (Hex1)","termid":"MOD:00761"},{"relation_name":"is_a","term_name":"omega-N-glycosyl-L-arginine","termid":"MOD:01980"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MOD:00764"}],"interesting_parent_ids":["MOD:00764"],"is_obsolete":false,"name":"omega-N-glucosyl-L-arginine","synonyms":[{"name":"(2S)-2-amino-5-(beta-D-glucopyranosyl[imino(methylamino)methyl]amino)pentanoic acid","type":"exact"},{"name":"CARBOHYD N-linked (Glc) arginine","type":"exact"},{"name":"Hex","type":"related"},{"name":"Hexose","type":"related"},{"name":"NG-beta-D-glucosylarginine","type":"exact"},{"name":"omega-N-(beta-D-glucosyl)-L-arginine","type":"exact"},{"name":"omega-N-glucosyl-L-arginine","type":"exact"},{"name":"omega-N-glycosyl-L-arginine","type":"exact"}],"termid":"MOD:00332"}


id: GO:0098961
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The directed movement of a ribonucleoprotein complex along microtubules in nerve cell dendrites.","definition_xrefs":["GOC:dos"],"direct_ancestors":[{"relation_name":"is_a","term_name":"protein-containing complex localization","termid":"GO:0031503"},{"relation_name":"is_a","term_name":"dendritic transport","termid":"GO:0098935"}],"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"}],"interesting_parent_ids":["GO:0008150","GO:0051179","GO:0006810"],"is_obsolete":false,"name":"dendritic transport of ribonucleoprotein complex","synonyms":[{"name":"dendritic transport of RNP complex","type":"exact"}],"termid":"GO:0098961"}


id: PR:000027512
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"An M-phase inducer phosphatase phosphorylated 1 in Schizosaccharomyces pombe. This form is produced by phosphorylation by Cds1 or Chk1 during replication checkpoint. Example: UniProtKB:P06652-1, Ser-99/Ser-192/Ser-359, MOD:00046.","definition_xrefs":["PMID:9774107","PomBase:MAH"],"direct_ancestors":[{"relation_name":"is_a","term_name":"M-phase inducer phosphatase","termid":"PR:000027506"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"cdc25/Phos(S99,S192,S359)","pombase_gene_id":"SPAC24H6.05","synonyms":[{"name":"PomBase_original_PRO_term_name: M-phase inducer phosphatase phosphorylated 1 (Schizosaccharomyces pombe)","type":"exact"},{"name":"Spom-cdc25/Phos:1","type":"exact"},{"name":"cdc25/Phos(S99,S192,S359)","type":"exact"}],"termid":"PR:000027512"}


id: PBO:0058909
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 12127","termid":"PBO:0058909"}


id: GO:0021963
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Generation of a long process of a CNS neuron, that carries efferent (outgoing) action potentials from the cell body in the spinal cord towards target cells in the thalamus. This axonal process is a member of those that make up the spinothalamic tract, one of the major routes of nociceptive signaling.","definition_xrefs":["GO_REF:0000021","GOC:jid","GOC:dph","GOC:cls","GOC:dgh"],"direct_ancestors":[{"relation_name":"is_a","term_name":"central nervous system projection neuron axonogenesis","termid":"GO:0021952"}],"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":"spinothalamic tract morphogenesis","synonyms":[{"name":"dorsolateral tract of Lissauer morphogenesis","type":"exact"}],"termid":"GO:0021963"}


id: PBO:0064109
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"PKD1 antisense RNA 1","termid":"PBO:0064109"}


id: GO:0030957
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Binding to Tat, a viral transactivating regulatory protein from the human immunodeficiency virus, or the equivalent protein from another virus.","definition_xrefs":["GOC:mah","PMID:9094689"],"direct_ancestors":[{"relation_name":"is_a","term_name":"RNA polymerase II-specific DNA-binding transcription factor binding","termid":"GO:0061629"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005488"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0005515"}],"interesting_parent_ids":["GO:0005488","GO:0003674","GO:0005515"],"is_obsolete":false,"name":"Tat protein binding","termid":"GO:0030957"}


id: PBO:0060236
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"MYB proto-oncogene like 1","termid":"PBO:0060236"}


id: PBO:0071426
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein L31 pseudogene 32","termid":"PBO:0071426"}


id: MONDO:0060621
data:
  {"annotated_genes":["SJAG_00443"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[85415],"is_not":false,"summary":null,"term":"MONDO:0060621"}]},"cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"Mendelian neurodevelopmental disorder","termid":"MONDO:0100500"}],"gene_count":1,"genes_by_uniquename":{"SJAG_00443":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0700092"}],"interesting_parent_ids":["MONDO:0700092"],"is_obsolete":false,"name":"neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["UMLS:C4540493","EFO:0009644","MEDGEN:1615361","OMIM:617802"],"synonyms":[{"name":"NDMSCA","type":"related"},{"name":"neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy","type":"exact"}],"termid":"MONDO:0060621","terms_by_termid":{"MONDO:0060621":null},"xrefs":{"Monarch":{"xref_id":"0060621"}}}


id: PATO:0001947
data:
  {"annotation_feature_type":"gene","cv_name":"quality","definition":"A color pattern inhering in a bearer by virtue of bearer's being covered with reticulated lines of a different hue or degree of saturation.","definition_xrefs":["ISBN:0881923214"],"direct_ancestors":[{"relation_name":"is_a","term_name":"multi-colored","termid":"PATO:0001533"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"netted","synonyms":[{"name":"net-like ","type":"exact"},{"name":"reticulated","type":"exact"}],"termid":"PATO:0001947"}


id: PBO:0000249
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"PAK-related kinase Shk2","termid":"PBO:0000249"}


id: MONDO:0014421
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"inherited lipid metabolism disorder","termid":"MONDO:0002525"},{"relation_name":"is_a","term_name":"adrenogenital syndrome","termid":"MONDO:0015898"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0002525"},{"rel_name":"is_a","termid":"MONDO:0005066"}],"interesting_parent_ids":["MONDO:0002525","MONDO:0005066"],"is_obsolete":false,"name":"glucocorticoid resistance","secondary_identifiers":["Orphanet:786","GARD:2499","MEDGEN:333960","MESH:C564221","NANDO:2200358","OMIM:615962","UMLS:C1841972","icd11.foundation:125216923"],"synonyms":[{"name":"GCCR","type":"related"},{"name":"Gccr deficiency","type":"related"},{"name":"Gcr deficiency","type":"related"},{"name":"Grl deficiency","type":"related"},{"name":"cortisol resistance from glucocorticoid receptor defect","type":"related"},{"name":"glucocorticoid receptor deficiency","type":"related"},{"name":"glucocorticoid resistance, generalised","type":"related"},{"name":"glucocorticoid resistance, generalized","type":"related"}],"termid":"MONDO:0014421","xrefs":{"Monarch":{"xref_id":"0014421"}}}


id: PBO:0089325
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"U3 snoRNP-associated protein Utp3","termid":"PBO:0089325"}


id: GO:0018699
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"OBSOLETE. Catalysis of the reaction: 1,1,1-trichloroethane + 2 H+ + 2 e- = 1,1-dichloroethane + HCl.","definition_xrefs":["UM-BBD_reactionID:r1007"],"gene_count":0,"genotype_count":0,"name":"obsolete 1,1,1-trichloroethane reductive dehalogenase activity (obsolete GO:0018699)","termid":"GO:0018699"}


id: PR:Q92355
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- sen1 gene.","definition_xrefs":["UniProtKB:Q92355","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":"helicase sen1 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAC6G9.10c","synonyms":[{"name":"Spom972h-sen1","type":"exact"}],"termid":"PR:Q92355"}


id: GO:0008607
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Modulation of the activity of the enzyme phosphorylase kinase.","definition_xrefs":["GOC:curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"protein kinase regulator activity","termid":"GO:0019887"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0030234"},{"rel_name":"is_a","termid":"GO:0098772"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0030234","GO:0003674","GO:0098772"],"is_obsolete":false,"name":"phosphorylase kinase regulator activity","synonyms":[{"name":"phosphorylase kinase, intrinsic regulator activity","type":"narrow"}],"termid":"GO:0008607"}


id: GO:0004589
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: (S)-dihydroorotate + NAD+ = H+ + NADH + orotate.","definition_xrefs":["RHEA:13513"],"direct_ancestors":[{"relation_name":"is_a","term_name":"dihydroorotate dehydrogenase activity","termid":"GO:0004152"},{"relation_name":"is_a","term_name":"oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor","termid":"GO:0016628"}],"gene_count":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:0003824","GO:0003674","GO:0016491"],"is_obsolete":false,"name":"dihydroorotate dehydrogenase (NAD+) activity","secondary_identifiers":["MetaCyc:OROTATE-REDUCTASE-NADH-RXN","EC:1.3.1.14","KEGG_REACTION:R01869"],"synonyms":[{"name":"(S)-dihydroorotate:NAD+ oxidoreductase activity","type":"related"},{"name":"orotate reductase (NADH) activity","type":"exact"}],"termid":"GO:0004589"}


id: PBO:0004347
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"biotin-protein ligase (predicted)","termid":"PBO:0004347"}


id: PBO:0113043
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Chromatin-associated high mobility group (HMG) family member; role in compacting, bending, bridging and looping DNA; lysine-rich CTD is essential for chromatin assembly, forming condensates with dsDNA; functionally similar to linker histone H1; rDNA-binding component regulates transcription from RNAPI promoters; regulates start site selection of ribosomal protein genes via RNAPII promoters; role in genome maintenance; associates with a 5'-3' DNA helicase and Fpr1p","termid":"PBO:0113043"}


id: _global:occurs_at
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"occurs_at","secondary_identifiers":["GOREL:0000501"],"termid":"_global:occurs_at"}


id: PBO:0064709
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"peptidylprolyl isomerase A pseudogene 45","termid":"PBO:0064709"}


id: MONDO:0004426
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A meningioma that affects the frontal sulcus.","definition_xrefs":["NCIT:P378"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cerebral convexity meningioma","termid":"MONDO:0003774"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0004992"}],"interesting_parent_ids":["MONDO:0004992"],"is_obsolete":false,"name":"frontal convexity meningioma","secondary_identifiers":["NCIT:C5292","DOID:8000","MEDGEN:234272","UMLS:C1333643"],"termid":"MONDO:0004426","xrefs":{"Monarch":{"xref_id":"0004426"}}}


id: PATO:0000135
data:
  {"annotation_feature_type":"gene","cv_name":"quality","gene_count":0,"genotype_count":0,"name":"OBSOLETE PATO:0000135 relative_angle (obsolete PATO:0000135)","termid":"PATO:0000135"}


id: PR:Q10160
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- rmi1 gene.","definition_xrefs":["UniProtKB:Q10160","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":"RecQ-mediated genome instability protein 1 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAC26A3.03c","synonyms":[{"name":"Spom972h-rmi1","type":"exact"}],"termid":"PR:Q10160"}


id: PBO:0080455
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"V-set and transmembrane domain containing 2A","termid":"PBO:0080455"}


id: PBO:0005798
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"pig-X (predicted)","termid":"PBO:0005798"}


id: GO:0034898
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"OBSOLETE. Catalysis of the reaction: hexadecyltrimethylammonium chloride + NAD(P)H + H+ + O2 = trimethylamine + hexadecanal + NAD(P)+ + H2O.","definition_xrefs":["UM-BBD_reactionID:r1373"],"gene_count":0,"genotype_count":0,"name":"obsolete hexadecyltrimethylammonium chloride monooxygenase activity (obsolete GO:0034898)","termid":"GO:0034898"}


id: MONDO:0002595
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"The cutaneous and occasional systemic reactions associated with vaccination using smallpox (variola) vaccine.","definition_xrefs":["MESH:D014615"],"direct_ancestors":[{"relation_name":"is_a","term_name":"viral infectious disease","termid":"MONDO:0005108"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"vaccinia","secondary_identifiers":["icd11.foundation:1275065853","SCTID:111852003","UMLS:C0042214","MEDGEN:52964","ICD9:999.0","DOID:3298"],"termid":"MONDO:0002595","xrefs":{"Monarch":{"xref_id":"0002595"}}}


id: GO:0003206
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process in which a cardiac chamber is generated and organized. A cardiac chamber is an enclosed cavity within the heart.","definition_xrefs":["GOC:mtg_heart"],"direct_ancestors":[{"relation_name":"is_a","term_name":"anatomical structure morphogenesis","termid":"GO:0009653"},{"relation_name":"part_of","term_name":"heart morphogenesis","termid":"GO:0003007"},{"relation_name":"part_of","term_name":"cardiac chamber development","termid":"GO:0003205"}],"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":"cardiac chamber morphogenesis","synonyms":[{"name":"heart chamber morphogenesis","type":"exact"}],"termid":"GO:0003206"}


id: GO:1901002
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that activates or increases the frequency, rate or extent of response to salt stress.","definition_xrefs":["PMID:22627139","GOC:TermGenie"],"direct_ancestors":[{"relation_name":"is_a","term_name":"positive regulation of response to stimulus","termid":"GO:0048584"},{"relation_name":"is_a","term_name":"regulation of response to salt stress","termid":"GO:1901000"},{"relation_name":"positively_regulates","term_name":"response to salt stress","termid":"GO:0009651"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"positive regulation of response to salt stress","synonyms":[{"name":"activation of response to ionic osmotic stress","type":"exact"},{"name":"activation of response to salt stress","type":"narrow"},{"name":"activation of salinity response","type":"exact"},{"name":"positive regulation of response to ionic osmotic stress","type":"exact"},{"name":"positive regulation of salinity response","type":"exact"},{"name":"up regulation of response to ionic osmotic stress","type":"exact"},{"name":"up regulation of response to salt stress","type":"exact"},{"name":"up regulation of salinity response","type":"exact"},{"name":"up-regulation of response to ionic osmotic stress","type":"exact"},{"name":"up-regulation of response to salt stress","type":"exact"},{"name":"up-regulation of salinity response","type":"exact"},{"name":"upregulation of response to ionic osmotic stress","type":"exact"},{"name":"upregulation of response to salt stress","type":"exact"},{"name":"upregulation of salinity response","type":"exact"}],"termid":"GO:1901002"}


id: PBO:0017463
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-has_host","termid":"PBO:0017463"}


id: PBO:0069163
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U6 small nuclear 415, pseudogene","termid":"PBO:0069163"}


id: PBO:0058437
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 5001","termid":"PBO:0058437"}


id: FYPO:0007039
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cell phenotype observed in the vegetative growth phase of the life cycle in which the localization of a protein to the mitochondrion is decreased, and the protein is instead visible in one or a few foci or dots in the cytoplasm.","definition_xrefs":["PMID:30181366","PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"decreased protein localization to mitochondrion","termid":"FYPO:0007038"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0000138"}],"interesting_parent_ids":["FYPO:0005447","FYPO:0001985","FYPO:0000138","FYPO:0001320","FYPO:0000002"],"is_obsolete":false,"name":"decreased protein localization to mitochondrion, with protein mislocalized to cytoplasmic foci","synonyms":[{"name":"decreased protein localisation to mitochondrion, with protein mislocalised to cytoplasmic foci","type":"exact"},{"name":"decreased protein localization to mitochondrion, with protein mislocalized to cytoplasmic foci, during vegetative growth","type":"exact"}],"termid":"FYPO:0007039"}


id: GO:0008935
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: 2-succinylbenzoyl-CoA + H+ = 1,4-dihydroxy-2-naphthoyl-CoA + H2O.","definition_xrefs":["RHEA:26562"],"direct_ancestors":[{"relation_name":"is_a","term_name":"oxo-acid-lyase activity","termid":"GO:0016833"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0016829"},{"rel_name":"is_a","termid":"GO:0003824"}],"interesting_parent_ids":["GO:0003674","GO:0016829","GO:0003824"],"is_obsolete":false,"name":"1,4-dihydroxy-2-naphthoyl-CoA synthase activity","secondary_identifiers":["EC:4.1.3.36","MetaCyc:NAPHTHOATE-SYN-RXN","KEGG_REACTION:R04150"],"synonyms":[{"name":"DHNA synthetase activity","type":"related"},{"name":"O-succinylbenzoyl-CoA 1,4-dihydroxy-2-naphthoate-lyase (cyclizing) activity","type":"related"},{"name":"dihydroxynaphthoate synthase activity","type":"related"},{"name":"dihydroxynaphthoic acid synthetase activity","type":"related"},{"name":"naphthoate synthase activity","type":"related"}],"termid":"GO:0008935"}


id: GO:1903700
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process whose specific outcome is the progression of a caecum over time, from its formation to the mature structure.","definition_xrefs":["GOC:TermGenie","ISBN:0-683-40008-8","GO_REF:0000094"],"direct_ancestors":[{"relation_name":"is_a","term_name":"anatomical structure development","termid":"GO:0048856"}],"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":"caecum development","synonyms":[{"name":"blind intestine development","type":"related"},{"name":"blindgut development","type":"related"},{"name":"caeca development","type":"narrow"},{"name":"ceca development","type":"narrow"},{"name":"cecum development","type":"exact"},{"name":"intestinum caecum development","type":"related"},{"name":"intestinum crassum caecum development","type":"exact"},{"name":"intestinum crassum cecum development","type":"related"}],"termid":"GO:1903700"}


id: GO:0045567
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of TRAIL (TNF-related apoptosis inducing ligand) receptor 2.","definition_xrefs":["GOC:go_curators"],"gene_count":0,"genotype_count":0,"name":"obsolete negative regulation of TRAIL receptor 2 biosynthetic process (obsolete GO:0045567)","synonyms":[{"name":"down regulation of TRAIL receptor 2 biosynthetic process","type":"exact"},{"name":"down-regulation of TRAIL receptor 2 biosynthetic process","type":"exact"},{"name":"downregulation of TRAIL receptor 2 biosynthetic process","type":"exact"},{"name":"inhibition of TRAIL receptor 2 biosynthetic process","type":"narrow"},{"name":"negative regulation of TRAIL receptor 2 anabolism","type":"exact"},{"name":"negative regulation of TRAIL receptor 2 biosynthesis","type":"exact"},{"name":"negative regulation of TRAIL receptor 2 formation","type":"exact"},{"name":"negative regulation of TRAIL receptor 2 synthesis","type":"exact"}],"termid":"GO:0045567"}


id: PBO:0045089
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"distal-less homeobox 1","termid":"PBO:0045089"}


id: MONDO:0005744
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A non-seminomatous malignant germ cell tumor composed of primitive germ cells. It is the most common malignant germ cell tumor in the pediatric population. It occurs in the infant testis, ovary, sacrococcygeal region, vagina, uterus, prostate, abdomen, liver, retroperitoneum, thorax, and pineal/third ventricle. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). Treatment includes: surgical resection, radiation, and chemotherapy. This tumor is very responsive to chemotherapy regimens that include cisplatinum.","definition_xrefs":["NCIT:P378"],"direct_ancestors":[{"relation_name":"is_a","term_name":"extragonadal nonseminomatous germ cell tumor","termid":"MONDO:0003578"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0004992"}],"interesting_parent_ids":["MONDO:0004992"],"is_obsolete":false,"name":"yolk sac tumor","secondary_identifiers":["MEDGEN:41782","MedDRA:10048251","ONCOTREE:BYST","Orphanet:876","NCIT:C3011","SCTID:404081005","EFO:0007252","DOID:1911","GARD:348","ICDO:9071/3","UMLS:C0014145","NANDO:2200069"],"synonyms":[{"name":"endodermal sinus neoplasm","type":"exact"},{"name":"endodermal sinus tumor","type":"exact"},{"name":"endodermal sinus tumour","type":"exact"},{"name":"hepatoid yolk sac tumor","type":"exact"},{"name":"hepatoid yolk sac tumour","type":"exact"},{"name":"infantile embryonal carcinoma","type":"narrow"},{"name":"yolk SAC tumor, malignant","type":"exact"},{"name":"yolk Sac neoplasm","type":"exact"},{"name":"yolk Sac tumor","type":"exact"},{"name":"yolk Sac tumor site unspecified","type":"exact"},{"name":"yolk Sac tumour","type":"exact"},{"name":"yolk Sac tumour site unspecified","type":"exact"},{"name":"yolk sac tumor","type":"exact"}],"termid":"MONDO:0005744","xrefs":{"Monarch":{"xref_id":"0005744"}}}


id: PBO:0013479
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"dihydrofolate reductase/ serine hydrolase family fusion protein Dfr1","termid":"PBO:0013479"}


id: PBO:0038303
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase chadoprop types","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"date_version","termid":"PBO:0038303"}


id: MONDO:0850257
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A pancreatic adenocarcinoma that derives from epithelial cells originating in glandular tissue, which produce mucin.","definition_xrefs":["DOID:0080782"],"direct_ancestors":[{"relation_name":"is_a","term_name":"mucinous adenocarcinoma","termid":"MONDO:0004957"},{"relation_name":"is_a","term_name":"pancreatic adenocarcinoma","termid":"MONDO:0006047"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0004335"},{"rel_name":"is_a","termid":"MONDO:0004992"}],"interesting_parent_ids":["MONDO:0004992","MONDO:0004335"],"is_obsolete":false,"name":"mucinous pancreas adenocarcinoma","termid":"MONDO:0850257","xrefs":{"Monarch":{"xref_id":"0850257"}}}


id: PBO:0036277
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Nebulin-family actin filament anchoring protein Cyk3 (predicted)","termid":"PBO:0036277"}


id: PR:P40899
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- isp3 gene.","definition_xrefs":["PRO:DNx","UniProtKB:P40899"],"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":"sexual differentiation process protein isp3 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAC1F8.05","synonyms":[{"name":"Spom972h-isp3","type":"exact"},{"name":"meiotic expression up-regulated protein 4 (Schizosaccharomyces pombe 972h-)","type":"exact"}],"termid":"PR:P40899"}


id: FYPO:0002801
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cellular process phenotype in which protein degradation is normal (i.e. indistinguishable from wild type) when the cell is subject to nitrogen starvation. Protein degradation, also known as protein catabolism, is any metabolic process that results in the destruction of the native, active configuration of a protein, with or without the hydrolysis of peptide bonds.","definition_xrefs":["PomBase:mah","GO:0030163"],"direct_ancestors":[{"relation_name":"is_a","term_name":"normal protein degradation","termid":"FYPO:0002799"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000257"},{"rel_name":"is_a","termid":"FYPO:0000002"}],"interesting_parent_ids":["FYPO:0000257","FYPO:0000002"],"is_obsolete":false,"name":"normal protein degradation during nitrogen starvation","synonyms":[{"name":"normal protein breakdown during nitrogen starvation","type":"exact"},{"name":"normal protein catabolic process during nitrogen starvation","type":"exact"},{"name":"normal protein catabolism during nitrogen starvation","type":"exact"},{"name":"normal protein degradation during nitrogen depletion","type":"exact"},{"name":"normal protein degradation during nitrogen deprivation","type":"exact"}],"termid":"FYPO:0002801"}


id: PBO:0059399
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"mitochondrial ribosomal protein S31 pseudogene 1","termid":"PBO:0059399"}


id: FYPO:0005726
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cell cycle checkpoint phenotype in which deactivation of the mitotic spindle assembly checkpoint does not occur. The mitotic spindle assembly checkpoint normally delays the metaphase/anaphase transition of a mitotic nuclear division until the spindle is correctly assembled and chromosomes are attached to the spindle.","definition_xrefs":["PMID:19592249","PomBase:vw","PomBase:mah","PMID:21664573"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal mitotic spindle assembly checkpoint","termid":"FYPO:0000168"},{"relation_name":"is_a","term_name":"abolished biological process","termid":"FYPO:0005448"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0000298"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0000631"}],"interesting_parent_ids":["FYPO:0000002","FYPO:0000631","FYPO:0005447","FYPO:0001985","FYPO:0000298","FYPO:0001320"],"is_obsolete":false,"name":"abolished deactivation of mitotic spindle assembly checkpoint","synonyms":[{"name":"abolished deactivation of mitotic cell cycle spindle assembly checkpoint","type":"exact"},{"name":"abolished mitotic spindle assembly checkpoint deactivation","type":"exact"},{"name":"abolished mitotic spindle assembly checkpoint silencing","type":"exact"},{"name":"deactivation of mitotic spindle assembly checkpoint abolished","type":"exact"}],"termid":"FYPO:0005726"}


id: PBO:0076599
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"TBC1 domain family member 21","termid":"PBO:0076599"}


id: PATO:0001923
data:
  {"annotation_feature_type":"gene","cv_name":"quality","definition":"A positional quality inhering in a bearer by virtue of the bearer's being positioned towards the side of an organism.","definition_xrefs":["PATOC:mb"],"direct_ancestors":[{"relation_name":"is_a","term_name":"mislocalised","termid":"PATO:0000628"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"mislocalised laterally","termid":"PATO:0001923"}


id: PBO:0035831
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-increased_histone_H4_acetylation_during_vegetative_growth","termid":"PBO:0035831"}


id: PBO:0038550
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ABHD17A pseudogene 5","termid":"PBO:0038550"}


id: FYPO:0002237
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A phenotype observed in the vegetative growth phase of the life cycle in which cells show increased sensitivity to cerulenin. Cells stop growing (and may die) at a concentration of cerulenin that allows wild type cells to grow.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"increased sensitivity to chemical during vegetative growth","termid":"FYPO:0000127"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0002683"},{"rel_name":"is_a","termid":"FYPO:0000003"},{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0000139"}],"interesting_parent_ids":["FYPO:0000139","FYPO:0001985","FYPO:0005447","FYPO:0000003","FYPO:0002683"],"is_obsolete":false,"name":"sensitive to cerulenin","synonyms":[{"name":"hypersensitive to cerulenin","type":"exact"},{"name":"sensitive to cerulenin during mitotic cell cycle","type":"related"},{"name":"sensitive to cerulenin during vegetative growth","type":"exact"}],"termid":"FYPO:0002237"}


id: FYPO:0000477
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cellular process phenotype in which one or both meiotic nuclear division(s) begins later than normal.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal meiosis","termid":"FYPO:0000051"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000631"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0001985"}],"interesting_parent_ids":["FYPO:0000631","FYPO:0005447","FYPO:0001985","FYPO:0000002"],"is_obsolete":false,"name":"delayed onset of meiosis","synonyms":[{"name":"delayed meiosis","type":"exact"},{"name":"delayed onset of meiotic nuclear division","type":"exact"},{"name":"meiosis: delayed","type":"related"}],"termid":"FYPO:0000477"}


id: PBO:0084435
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"MAL-activator protein; transcription factor; part of the complex locus MAL6, plays a positive role in the regulation of maltose fermentation","termid":"PBO:0084435"}


id: PBO:0116660
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ARF like GTPase 4A pseudogene 3","termid":"PBO:0116660"}


id: GO:0061109
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a dense core granule. A dense core granule is a secretory organelle found in endocrine cells.","definition_xrefs":["GOC:dph"],"direct_ancestors":[{"relation_name":"is_a","term_name":"secretory granule organization","termid":"GO:0033363"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"dense core granule organization","synonyms":[{"name":"dense core granule organisation","type":"exact"}],"termid":"GO:0061109"}


id: FYPO:0007599
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A transcription regulation phenotype observed in the vegetative growth phase of the life cycle in which chromatin silencing is increased at a site where silencing can be triggered by the ectopic tethering of a protein.","definition_xrefs":["PomBase:mah","PMID:23613586"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal chromatin silencing","termid":"FYPO:0000144"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0006551"}],"interesting_parent_ids":["FYPO:0000002","FYPO:0001985","FYPO:0006551","FYPO:0001320","FYPO:0005447"],"is_obsolete":false,"name":"increased chromatin silencing at ectopic tethering site","synonyms":[{"name":"increased chromatin silencing at ectopic tethering site","type":"related"},{"name":"increased chromatin silencing at ectopic tethering site during vegetative growth","type":"exact"}],"termid":"FYPO:0007599"}


id: GO:0061323
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The multiplication or reproduction of cells, resulting in the expansion of a cell population that contributes to the shaping of the heart.","definition_xrefs":["GOC:mtg_heart","GOC:dph"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cell population proliferation","termid":"GO:0008283"},{"relation_name":"part_of","term_name":"heart morphogenesis","termid":"GO:0003007"}],"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":"cell proliferation involved in heart morphogenesis","termid":"GO:0061323"}


id: GO:1904047
data:
  {"annotated_genes":["SJAG_03755","SJAG_01269"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[57337,98181],"is_not":false,"summary":null,"term":"GO:1904047"}]},"cv_name":"molecular_function","definition":"Binding to S-adenosyl-L-methionine.","definition_xrefs":["GOC:hal","GOC:TermGenie","PMID:22985361","GO_REF:0000067","GOC:BHF"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cation binding","termid":"GO:0043169"},{"relation_name":"is_a","term_name":"sulfur compound binding","termid":"GO:1901681"}],"gene_count":2,"genes_by_uniquename":{"SJAG_01269":null,"SJAG_03755":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0005488"}],"interesting_parent_ids":["GO:0003674","GO:0005488"],"is_obsolete":false,"name":"S-adenosyl-L-methionine binding","references_by_uniquename":{"GO_REF:0000104":null,"GO_REF:0000107":null},"secondary_identifiers":["Reactome:R-HSA-947535","GO:0070283"],"synonyms":[{"name":"radical SAM enzyme activity","type":"narrow"}],"termid":"GO:1904047","terms_by_termid":{"GO:1904047":null}}


id: PBO:0015713
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Cdc48p-Npl4p-Vms1p AAA ATPase complex subunit involved in ER associated ubiquitin-dependent protein catabolic process Vms1 (predicted)","termid":"PBO:0015713"}


id: MONDO:0009027
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":"cramps, familial adolescent","secondary_identifiers":["MEDGEN:347475","OMIM:218050","UMLS:C1857533"],"synonyms":[{"name":"cramps, familial adolescent","type":"exact"}],"termid":"MONDO:0009027","xrefs":{"Monarch":{"xref_id":"0009027"}}}


id: PBO:0052795
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"keratin 35","termid":"PBO:0052795"}


id: PBO:0063463
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"platelet derived growth factor receptor alpha","termid":"PBO:0063463"}


id: PBO:0063413
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"phosphodiesterase 1B","termid":"PBO:0063413"}


id: MONDO:0850286
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"An intrinsic asthma that is characterized by narrowing of the airways during or shortly after exercise.","definition_xrefs":["DOID:0080821"],"direct_ancestors":[{"relation_name":"is_a","term_name":"intrinsic asthma","termid":"MONDO:0004765"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"exercise-induced bronchoconstriction","termid":"MONDO:0850286","xrefs":{"Monarch":{"xref_id":"0850286"}}}


id: PBO:0045978
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"EH domain containing 4","termid":"PBO:0045978"}


id: MONDO:0007810
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern.","direct_ancestors":[{"relation_name":"is_a","term_name":"autosomal dominant disease","termid":"MONDO:0000426"},{"relation_name":"is_a","term_name":"ichthyosis vulgaris","termid":"MONDO:0024304"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0000426"},{"rel_name":"is_a","termid":"MONDO:0005093"}],"interesting_parent_ids":["MONDO:0005093","MONDO:0000426"],"is_obsolete":false,"name":"autosomal dominant ichthyosis vulgaris","secondary_identifiers":["OMIM:146700","DOID:1702","ICD10CM:Q80.0","Orphanet:462","SCTID:254157005","UMLS:C0432300","MEDGEN:609440","NCIT:C84778"],"synonyms":[{"name":"autosomal dominant ichthyosis vulgaris","type":"exact"},{"name":"dominant congenital ichthyosiform erythroderma","type":"exact"},{"name":"dominant ichthyosis vulgaris","type":"related"},{"name":"ichthyosis simplex","type":"related"},{"name":"ichthyosis vulgaris","type":"related"},{"name":"ichthyosis vulgaris, autosomal dominant","type":"exact"}],"termid":"MONDO:0007810","xrefs":{"Monarch":{"xref_id":"0007810"}}}


id: MOD:01874
data:
  {"annotation_feature_type":"gene","cv_name":"PSI-MOD","definition":"A protein modification that effectively converts an L-alanine residue to N-carboxy-L-valine.","definition_xrefs":["PubMed:8312270","PubMed:18688235","PubMed:4593770","PubMed:4647257"],"direct_ancestors":[{"relation_name":"is_a","term_name":"modified L-valine residue","termid":"MOD:00920"},{"relation_name":"is_a","term_name":"carboxylated residue","termid":"MOD:01152"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"N-carboxy-L-valine","synonyms":[{"name":"(S)-2-carboxyamino-propanoic acid","type":"exact"},{"name":"2-carbamic-propanoic acid","type":"exact"},{"name":"N-carboxymethionine","type":"exact"}],"termid":"MOD:01874"}


id: GO:0021885
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The orderly movement of a cell from one site to another at least one of which is located in the forebrain.","definition_xrefs":["GO_REF:0000021","GOC:cls","GOC:jid","GOC:dph","GOC:dgh"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cell migration","termid":"GO:0016477"},{"relation_name":"part_of","term_name":"forebrain development","termid":"GO:0030900"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"forebrain cell migration","termid":"GO:0021885"}


id: GO:0010821
data:
  {"annotated_genes":["SJAG_03957","SJAG_03887","SJAG_04203","SJAG_00855","SJAG_00304","SJAG_01212"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[90139],"is_not":false,"summary":null,"term":"GO:0010821"},{"annotations":[116692],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0090258"},{"annotations":[106819,102386],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0010637"},{"annotations":[96079],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0090297"},{"annotations":[109249],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0090141"}]},"cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion.","definition_xrefs":["GOC:dph","GOC:tb"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of organelle organization","termid":"GO:0033043"},{"relation_name":"regulates","term_name":"mitochondrion organization","termid":"GO:0007005"}],"gene_count":6,"genes_by_uniquename":{"SJAG_00304":null,"SJAG_00855":null,"SJAG_01212":null,"SJAG_03887":null,"SJAG_03957":null,"SJAG_04203":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"regulates","termid":"GO:0007005"}],"interesting_parent_ids":["GO:0007005","GO:0008150"],"is_obsolete":false,"name":"regulation of mitochondrion organization","references_by_uniquename":{"GO_REF:0000107":null},"synonyms":[{"name":"regulation of mitochondrion organisation","type":"exact"}],"termid":"GO:0010821","terms_by_termid":{"GO:0010637":null,"GO:0010821":null,"GO:0090141":null,"GO:0090258":null,"GO:0090297":null}}


id: MONDO:0009786
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"hereditary optic atrophy","termid":"MONDO:0043878"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005559"}],"interesting_parent_ids":["MONDO:0005559"],"is_obsolete":false,"name":"optic atrophy 6","secondary_identifiers":["MESH:C537127","DOID:0111435","GARD:10200","OMIM:258500","Orphanet:99012","UMLS:C1850281","MEDGEN:338012"],"synonyms":[{"name":"OPA6","type":"exact"},{"name":"optic atrophy 6","type":"exact"},{"name":"optic atrophy, congenital or early infantile, autosomal recessive","type":"related"}],"termid":"MONDO:0009786","xrefs":{"Monarch":{"xref_id":"0009786"}}}


id: PBO:0028638
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-meiotic_spindle_absent_from_cell_during_meiosis_II","termid":"PBO:0028638"}


id: PBO:0081517
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"zinc finger protein 426","termid":"PBO:0081517"}


id: MONDO:0003826
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"An extragonadal malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of uniform cells with clear or eosinophilic cytoplasm, round nucleus with one or more nucleoli, and distinct cellular borders. It usually arises from the anterior mediastinum. It may present with respiratory distress, chest pain, or superior vena cava syndrome or it may be asymptomatic, with the tumor detected on routine chest x-ray. The prognosis of mediastinal pure seminomas is favorable compared to the mediastinal non-seminomatous malignant germ cell tumors.","definition_xrefs":["NCIT:C6812"],"direct_ancestors":[{"relation_name":"is_a","term_name":"extragonadal seminoma","termid":"MONDO:0003668"},{"relation_name":"is_a","term_name":"mediastinal malignant germ cell tumor","termid":"MONDO:0006298"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0004992"}],"interesting_parent_ids":["MONDO:0004992"],"is_obsolete":false,"name":"mediastinum seminoma","secondary_identifiers":["DOID:6249","UMLS:C1334680","MEDGEN:277355"],"synonyms":[{"name":"mediastinal seminoma","type":"exact"},{"name":"mediastinum seminoma","type":"exact"},{"name":"seminoma of mediastinum","type":"exact"},{"name":"seminoma of the mediastinum","type":"exact"}],"termid":"MONDO:0003826","xrefs":{"Monarch":{"xref_id":"0003826"}}}


id: GO:0030718
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process by which an organism or tissue maintains a population of germ-line stem cells.","definition_xrefs":["ISBN:0879694238"],"direct_ancestors":[{"relation_name":"is_a","term_name":"stem cell population maintenance","termid":"GO:0019827"}],"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":"germ-line stem cell population maintenance","termid":"GO:0030718"}


id: PBO:0050873
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha","termid":"PBO:0050873"}


id: MONDO:0012367
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Any retinitis pigmentosa in which the cause of the disease is a mutation in the TOPORS gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"retinitis pigmentosa","termid":"MONDO:0019200"},{"relation_name":"is_a","term_name":"TOPORS-related retinopathy","termid":"MONDO:0700233"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005328"},{"rel_name":"is_a","termid":"MONDO:0004736"},{"rel_name":"is_a","termid":"MONDO:0005066"}],"interesting_parent_ids":["MONDO:0004736","MONDO:0005066","MONDO:0005328"],"is_obsolete":false,"name":"retinitis pigmentosa 31","secondary_identifiers":["MEDGEN:372159","MESH:C563685","DOID:0110391","ICD10CM:H35.5","OMIM:609923","GARD:10396","UMLS:C1835923"],"synonyms":[{"name":"RP 31","type":"related"},{"name":"RP31","type":"exact"},{"name":"TOPORS retinitis pigmentosa","type":"exact"},{"name":"retinitis pigmentosa 31","type":"exact"},{"name":"retinitis pigmentosa caused by mutation in TOPORS","type":"exact"},{"name":"retinitis pigmentosa type 31","type":"exact"}],"termid":"MONDO:0012367","xrefs":{"Monarch":{"xref_id":"0012367"}}}


id: PBO:0077279
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"transmembrane protein 18","termid":"PBO:0077279"}


id: PBO:0073360
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"serpin family E member 4, pseudogene","termid":"PBO:0073360"}


id: PATO:0001589
data:
  {"annotation_feature_type":"gene","cv_name":"quality","definition":"Increased, intensified.","definition_xrefs":["PATOC:GVG"],"gene_count":0,"genotype_count":0,"name":"OBSOLETE PATO:0001589 enhanced (obsolete PATO:0001589)","termid":"PATO:0001589"}


id: CHEBI:43732
data:
  {"annotation_feature_type":"gene","cv_name":"chebi_ontology","direct_ancestors":[{"relation_name":"is_a","term_name":"chemical entity","termid":"CHEBI:24431"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"thiazole","termid":"CHEBI:43732"}


id: MONDO:1010129
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Epidermolysis bullosa that occurs in non-human animals.","definition_xrefs":["MONDO:patterns/nonhuman_disease"],"direct_ancestors":[{"relation_name":"is_a","term_name":"integumentary system disorder, non-human animal","termid":"MONDO:1011328"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"epidermolysis bullosa, non-human animal","secondary_identifiers":["OMIA:000340"],"termid":"MONDO:1010129","xrefs":{"Monarch":{"xref_id":"1010129"}}}


id: PBO:0028692
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-sensitive_to_doxorubicin","termid":"PBO:0028692"}


id: PBO:0001856
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"aconitate hydratase (predicted)","termid":"PBO:0001856"}


id: GO:1903865
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"A protein complex which is capable of sigma factor antagonist activity.","definition_xrefs":["GO_REF:0000088","PMID:23687042","GOC:bhm","GOC:TermGenie"],"direct_ancestors":[{"relation_name":"is_a","term_name":"transcription regulator complex","termid":"GO:0005667"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005575"},{"rel_name":"is_a","termid":"GO:0032991"}],"interesting_parent_ids":["GO:0005575","GO:0032991"],"is_obsolete":false,"name":"sigma factor antagonist complex","termid":"GO:1903865"}


id: GO:0033673
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents, or reduces the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.","definition_xrefs":["GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"negative regulation of phosphorylation","termid":"GO:0042326"},{"relation_name":"is_a","term_name":"regulation of kinase activity","termid":"GO:0043549"},{"relation_name":"is_a","term_name":"negative regulation of transferase activity","termid":"GO:0051348"}],"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 kinase activity","synonyms":[{"name":"down regulation of kinase activity","type":"exact"},{"name":"down-regulation of kinase activity","type":"exact"},{"name":"downregulation of kinase activity","type":"exact"},{"name":"inhibition of kinase activity","type":"narrow"},{"name":"kinase inhibitor","type":"narrow"}],"termid":"GO:0033673"}


id: PBO:0039709
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"apolipoprotein A1","termid":"PBO:0039709"}


id: PBO:0076191
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"small ubiquitin like modifier 2","termid":"PBO:0076191"}


id: MONDO:0019846
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Acquired central diabetes insipidus (acquired CDI) is a subtype of central diabetes insipidus (CDI), characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production.","definition_xrefs":["Orphanet:95626"],"direct_ancestors":[{"relation_name":"is_a","term_name":"central diabetes insipidus","termid":"MONDO:0015790"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"acquired central diabetes insipidus","secondary_identifiers":["MEDGEN:1843437","UMLS:C5680256","GARD:19291","ICD10CM:E23.2","icd11.foundation:1677009817"],"synonyms":[{"name":"acquired CDI","type":"exact"},{"name":"acquired central diabetes insipidus","type":"exact"},{"name":"acquired neurogenic diabetes insipidus","type":"exact"}],"termid":"MONDO:0019846","xrefs":{"Monarch":{"xref_id":"0019846"}}}


id: PBO:0065302
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"serine protease 12","termid":"PBO:0065302"}


id: PR:O13739
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- aro7 gene.","definition_xrefs":["UniProtKB:O13739","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":"chorismate mutase (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAC16E8.04c","synonyms":[{"name":"CM (Schizosaccharomyces pombe 972h-)","type":"exact"},{"name":"Spom972h-aro7","type":"exact"}],"termid":"PR:O13739"}


id: GO:0002048
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways involving the siderochrome pyoverdine.","definition_xrefs":["PMID:15317763"],"direct_ancestors":[{"relation_name":"is_a","term_name":"siderophore metabolic process","termid":"GO:0009237"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0019748"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150","GO:0019748"],"is_obsolete":false,"name":"pyoverdine metabolic process","synonyms":[{"name":"pyoverdine metabolism","type":"exact"}],"termid":"GO:0002048"}


id: PBO:0058247
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 4535","termid":"PBO:0058247"}


id: MONDO:0004810
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Acute form of ethmoid sinusitis.","definition_xrefs":["MONDO:patterns/acute"],"direct_ancestors":[{"relation_name":"is_a","term_name":"ethmoid sinusitis","termid":"MONDO:0005756"},{"relation_name":"is_a","term_name":"acute disease","termid":"MONDO:0020683"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"acute ethmoiditis","secondary_identifiers":["UMLS:C0155806","DOID:9506","ICD9:461.2","MEDGEN:510088","SCTID:67832005"],"synonyms":[{"name":"acute ethmoid sinusitis","type":"exact"},{"name":"acute ethmoidal sinusitis","type":"exact"},{"name":"ethmoid sinusitis, acute","type":"exact"},{"name":"ethmoidal sinus - acute","type":"exact"}],"termid":"MONDO:0004810","xrefs":{"Monarch":{"xref_id":"0004810"}}}


id: PBO:0031628
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-abolished_sporulation","termid":"PBO:0031628"}


id: GO:0030346
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Binding to a protein phosphatase 2B.","definition_xrefs":["GOC:jl"],"direct_ancestors":[{"relation_name":"is_a","term_name":"protein phosphatase binding","termid":"GO:0019903"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0005488"},{"rel_name":"is_a","termid":"GO:0005515"}],"interesting_parent_ids":["GO:0005488","GO:0005515","GO:0003674"],"is_obsolete":false,"name":"protein phosphatase 2B binding","synonyms":[{"name":"calcineurin binding","type":"exact"},{"name":"protein phosphatase 3 binding","type":"related"}],"termid":"GO:0030346"}


id: PBO:0087798
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Syntaxin-like vacuolar t-SNARE; functions with Vam7p in vacuolar protein trafficking; mediates docking/fusion of late transport intermediates with the vacuole; has an acidic di-leucine sorting signal and C-terminal transmembrane region","termid":"PBO:0087798"}


id: GO:1901025
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The aggregation, arrangement and bonding together of ripoptosome components leading to apoptosis via the extrinsic apoptotic signaling pathway.","definition_xrefs":["GOC:TermGenie","GOC:mtg_apoptosis","PMID:22274400"],"direct_ancestors":[{"relation_name":"is_a","term_name":"ripoptosome assembly","termid":"GO:0097343"},{"relation_name":"part_of","term_name":"extrinsic apoptotic signaling pathway","termid":"GO:0097191"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"part_of","termid":"GO:0044085"},{"rel_name":"part_of","termid":"GO:0023052"},{"rel_name":"is_a","termid":"GO:0065003"}],"interesting_parent_ids":["GO:0044085","GO:0023052","GO:0065003","GO:0008150"],"is_obsolete":false,"name":"ripoptosome assembly involved in extrinsic apoptotic signaling pathway","termid":"GO:1901025"}


id: PBO:0012312
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"20S proteiasome complex subunit alpha 2, Pre8 (predicted)","termid":"PBO:0012312"}


id: FYPO:0000663
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A molecular function phenotype in which the observed rate of a specified catalytic activity is decreased.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal catalytic activity","termid":"FYPO:0000661"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000707"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0000652"},{"rel_name":"is_a","termid":"FYPO:0000654"},{"rel_name":"is_a","termid":"FYPO:0000661"}],"interesting_parent_ids":["FYPO:0000652","FYPO:0001985","FYPO:0000654","FYPO:0000661","FYPO:0000707"],"is_obsolete":false,"name":"decreased catalytic activity","synonyms":[{"name":"reduced catalytic activity","type":"exact"}],"termid":"FYPO:0000663"}


id: PBO:0083803
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Essential protein that associates with contractile actomyosin ring; required for ingression of the plasma membrane into the bud neck during cytokinesis; C2 domain, a membrane targeting module, is required for function; activates chitin synthase activity of Chs2p during cytokinesis","termid":"PBO:0083803"}


id: PBO:0067585
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, 7SL, cytoplasmic 744, pseudogene","termid":"PBO:0067585"}


id: GO:0009026
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: D-altronate + NAD+ = D-tagaturonate + H+ + NADH.","definition_xrefs":["RHEA:17813","EC:1.1.1.58"],"direct_ancestors":[{"relation_name":"is_a","term_name":"oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor","termid":"GO:0016616"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0016491"}],"interesting_parent_ids":["GO:0016491","GO:0003674","GO:0003824"],"is_obsolete":false,"name":"tagaturonate reductase activity","secondary_identifiers":["KEGG_REACTION:R02555","MetaCyc:ALTRO-OXIDOREDUCT-RXN"],"synonyms":[{"name":"D-altronate:NAD+ 3-oxidoreductase activity","type":"related"},{"name":"D-tagaturonate reductase activity","type":"related"},{"name":"TagUAR","type":"related"},{"name":"altronate dehydrogenase activity","type":"related"},{"name":"altronate oxidoreductase activity","type":"related"},{"name":"altronic oxidoreductase activity","type":"related"},{"name":"tagaturonate dehydrogenase activity","type":"related"}],"termid":"GO:0009026"}


id: MONDO:0043127
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"ptosis","termid":"MONDO:0000728"},{"relation_name":"is_a","term_name":"congenital heart disease","termid":"MONDO:0005453"},{"relation_name":"is_a","term_name":"anodontia","termid":"MONDO:0008797"},{"relation_name":"is_a","term_name":"craniosynostosis","termid":"MONDO:0015469"},{"relation_name":"is_a","term_name":"cardiogenetic disease","termid":"MONDO:0100547"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005328"},{"rel_name":"is_a","termid":"MONDO:0005497"},{"rel_name":"is_a","termid":"MONDO:0005267"}],"interesting_parent_ids":["MONDO:0005267","MONDO:0005328","MONDO:0005497"],"is_obsolete":false,"name":"mehta lewis patton syndrome","secondary_identifiers":["UMLS:C2931120","MEDGEN:419340","GARD:3450","MESH:C536147"],"synonyms":[{"name":"congenital heart disease, ptosis, hypodontia, and craniosynostosis","type":"related"}],"termid":"MONDO:0043127","xrefs":{"Monarch":{"xref_id":"0043127"}}}


id: GO:1901862
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents or reduces the frequency, rate or extent of muscle tissue development.","definition_xrefs":["GOC:yaf","GOC:TermGenie","PMID:23150719"],"direct_ancestors":[{"relation_name":"is_a","term_name":"negative regulation of developmental process","termid":"GO:0051093"},{"relation_name":"is_a","term_name":"regulation of muscle tissue development","termid":"GO:1901861"},{"relation_name":"negatively_regulates","term_name":"muscle tissue development","termid":"GO:0060537"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"negative regulation of muscle tissue development","synonyms":[{"name":"down regulation of muscle tissue development","type":"exact"},{"name":"down-regulation of muscle tissue development","type":"exact"},{"name":"downregulation of muscle tissue development","type":"exact"},{"name":"inhibition of muscle tissue development","type":"narrow"}],"termid":"GO:1901862"}


id: GO:0015704
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The directed movement of cyanate, NCO-, the anion of cyanic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.","definition_xrefs":["GOC:krc"],"direct_ancestors":[{"relation_name":"is_a","term_name":"one-carbon compound transport","termid":"GO:0019755"},{"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:0006810"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0051179"}],"interesting_parent_ids":["GO:0008150","GO:0051179","GO:0006810"],"is_obsolete":false,"name":"cyanate transport","termid":"GO:0015704"}


id: SO:0001395
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"A post translationally modified methionine amino acid feature.","definition_xrefs":["SO:ke"],"direct_ancestors":[{"relation_name":"is_a","term_name":"modified_amino_acid_feature","termid":"SO:0001385"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"modified_L_methionine","secondary_identifiers":["MOD:00913"],"synonyms":[{"name":"ModMet","type":"exact"},{"name":"modified L methionine","type":"exact"},{"name":"modified L-methionine","type":"exact"}],"termid":"SO:0001395"}


id: PBO:0064892
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"protein phosphatase 2 regulatory subunit B''alpha","termid":"PBO:0064892"}


id: PBO:0071035
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein L21 pseudogene 37","termid":"PBO:0071035"}


id: MONDO:0002771
data:
  {"annotated_genes":["SJAG_05979","SJAG_02194","SJAG_01836","SJAG_03855","SJAG_00566","SJAG_03125"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[85400],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0800029"},{"annotations":[86895],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0957261"},{"annotations":[86894],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0957263"},{"annotations":[86663],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0957294"},{"annotations":[86494],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0013878"},{"annotations":[85625],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0014612"},{"annotations":[87457],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0030690"}]},"cv_name":"mondo","definition":"Chronic progressive interstitial lung disorder characterized by the replacement of the lung tissue by connective tissue, leading to progressive dyspnea, respiratory failure, or right heart failure. Causes include chronic inflammatory processes, exposure to environmental irritants, radiation therapy, autoimmune disorders, certain drugs, or it may be idiopathic (no identifiable cause).","definition_xrefs":["NCIT:P378"],"direct_ancestors":[{"relation_name":"is_a","term_name":"interstitial lung disease","termid":"MONDO:0015925"}],"gene_count":6,"genes_by_uniquename":{"SJAG_00566":null,"SJAG_01836":null,"SJAG_02194":null,"SJAG_03125":null,"SJAG_03855":null,"SJAG_05979":null},"genotype_count":0,"is_obsolete":false,"name":"pulmonary fibrosis","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["MESH:D011658","NCIT:C26869","SCTID:51615001","UMLS:C0034069","DOID:3770","EFO:0009448","MEDGEN:11028"],"synonyms":[{"name":"fibrosis of lung","type":"exact"},{"name":"pulmonary interstitial fibrosis","type":"exact"}],"termid":"MONDO:0002771","terms_by_termid":{"MONDO:0013878":null,"MONDO:0014612":null,"MONDO:0030690":null,"MONDO:0800029":null,"MONDO:0957261":null,"MONDO:0957263":null,"MONDO:0957294":null},"xrefs":{"Monarch":{"xref_id":"0002771"}}}


id: PATO:0001108
data:
  {"annotation_feature_type":"gene","cv_name":"quality","gene_count":0,"genotype_count":0,"name":"OBSOLETE PATO:0001108 relative amplitude value (obsolete PATO:0001108)","termid":"PATO:0001108"}


id: MONDO:0019811
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"congenital tricuspid malformation","termid":"MONDO:0020289"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005267"}],"interesting_parent_ids":["MONDO:0005267"],"is_obsolete":false,"name":"tricuspid valve agenesis","secondary_identifiers":["MEDGEN:672653","ICD10CM:Q22.4","Orphanet:95457","UMLS:C0685715","GARD:19261"],"synonyms":[{"name":"congenital unguarded tricuspid orifice","type":"exact"}],"termid":"MONDO:0019811","xrefs":{"Monarch":{"xref_id":"0019811"}}}


id: PBO:0080892
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"YTH N6-methyladenosine RNA binding protein F2","termid":"PBO:0080892"}


id: MONDO:1011895
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"nervous system disorder, non-human animal","termid":"MONDO:1011336"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Guillain-Barr-like polyradiculoneuropathy, non-human animal","secondary_identifiers":["OMIA:002062"],"termid":"MONDO:1011895","xrefs":{"Monarch":{"xref_id":"1011895"}}}


id: MOD:01225
data:
  {"annotation_feature_type":"gene","cv_name":"PSI-MOD","definition":"A protein modification that effectively converts an L-tyrosine residue into an L-fluorotyrosine.","definition_xrefs":["OMSSA:46","PubMed:8069568","Unimod:127#Y"],"direct_ancestors":[{"relation_name":"is_a","term_name":"fluorinated residue","termid":"MOD:00498"},{"relation_name":"is_a","term_name":"halogenated tyrosine","termid":"MOD:00985"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"monofluorinated L-tyrosine","synonyms":[{"name":"Fluoro","type":"related"},{"name":"fluorophenylalanine replacement of phenylalanine","type":"related"},{"name":"phef","type":"exact"}],"termid":"MOD:01225"}


id: PBO:0062447
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"olfactory receptor family 7 subfamily E member 111 pseudogene","termid":"PBO:0062447"}


id: MONDO:0030004
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"autism, susceptiblity to","termid":"MONDO:0020836"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"autism, susceptibility to, 20","secondary_identifiers":["UMLS:C5394226","MEDGEN:1717195","OMIM:618830"],"synonyms":[{"name":"AUTISM, SUSCEPTIBILITY TO, 20","type":"exact"},{"name":"AUTS20","type":"exact"},{"name":"autism, susceptibility to, 20","type":"exact"}],"termid":"MONDO:0030004","xrefs":{"Monarch":{"xref_id":"0030004"}}}


id: FYPO:0002652
data:
  {"alleles_by_uniquename":{"SJAG_01906:allele-1":{"allele_type":"deletion","description":"deletion","gene_uniquename":"SJAG_01906","name":"nem1delta","uniquename":"SJAG_01906:allele-1"},"SJAG_02763:allele-1":{"allele_type":"deletion","description":"deletion","gene_uniquename":"SJAG_02763","name":"ned1delta","uniquename":"SJAG_02763:allele-1"},"SJAG_02763:allele-4":{"allele_type":"amino_acid_mutation","description":"S235E; S651E","gene_uniquename":"SJAG_02763","name":"ned1S235E/S651E","synonyms":[{"name":"phosphomimetic","reference":"PMID:26774782","type":"exact"}],"uniquename":"SJAG_02763:allele-4"},"SJAG_02763:allele-5":{"allele_type":"amino_acid_mutation","description":"S499E; S538E; T620E; T638E; S651E","gene_uniquename":"SJAG_02763","name":"ned1-5E","uniquename":"SJAG_02763:allele-5"},"SJAG_03940:allele-1":{"allele_type":"deletion","description":"deletion","gene_uniquename":"SJAG_03940","name":"nem2delta","uniquename":"SJAG_03940:allele-1"}},"annotation_feature_type":"genotype","cv_annotations":{"single_locus_phenotype":[{"annotations":[119718,119709,119707,119706,119721],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"FYPO:0001784"}]},"cv_name":"fission_yeast_phenotype","definition":"A physical cellular phenotype observed in the vegetative growth phase of the life cycle in which cells contain more intracellular endomembrane system structures than normal. The endomembrane system includes the endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope; in this phenotype, excess plasma membrane does not accumulate, but increased amounts of one or more internal intracellular endomembrane system structures may be present.","definition_xrefs":["PomBase:mah","PMID:21899677","PomBase:vw"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal endomembrane system","termid":"FYPO:0002404"}],"gene_count":3,"genes_by_uniquename":{"SJAG_01906":null,"SJAG_02763":null,"SJAG_03940":null},"genotype_count":5,"genotypes_by_uniquename":{"ned1-5E-S499E__S538E__T620E__T638E__S651E-amino_acid_mutation-expression-not_assayed_or_wild_type":{"display_name":"ned1-5E(S499E; S538E; T620E; T638E; S651E aa)","display_uniquename":"ned1-5E-S499E__S538E__T620E__T638E__S651E-amino_acid_mutation-expression-not_assayed_or_wild_type","loci":[{"expressed_alleles":[{"allele_uniquename":"SJAG_02763:allele-5","expression":"Not assayed or wild type"}]}]},"ned1S235E_S651E-S235E__S651E-amino_acid_mutation-expression-not_assayed_or_wild_type":{"display_name":"ned1S235E/S651E(S235E; S651E aa)","display_uniquename":"ned1S235E_S651E-S235E__S651E-amino_acid_mutation-expression-not_assayed_or_wild_type","loci":[{"expressed_alleles":[{"allele_uniquename":"SJAG_02763:allele-4","expression":"Not assayed or wild type"}]}]},"ned1delta":{"display_name":"ned1delta","display_uniquename":"ned1delta","loci":[{"expressed_alleles":[{"allele_uniquename":"SJAG_02763:allele-1","expression":"Null"}]}]},"nem1delta":{"display_name":"nem1delta","display_uniquename":"nem1delta","loci":[{"expressed_alleles":[{"allele_uniquename":"SJAG_01906:allele-1","expression":"Null"}]}]},"nem2delta":{"display_name":"nem2delta","display_uniquename":"nem2delta","loci":[{"expressed_alleles":[{"allele_uniquename":"SJAG_03940:allele-1","expression":"Null"}]}]}},"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0001985"}],"interesting_parent_ids":["FYPO:0001320","FYPO:0000002","FYPO:0001985"],"is_obsolete":false,"name":"excess intracellular endomembrane system present","references_by_uniquename":{"PMID:26774782":null},"single_locus_annotated_genes":["SJAG_03940","SJAG_02763","SJAG_01906"],"single_locus_genotype_uniquenames":["nem1delta","ned1-5E-S499E__S538E__T620E__T638E__S651E-amino_acid_mutation-expression-not_assayed_or_wild_type","ned1S235E_S651E-S235E__S651E-amino_acid_mutation-expression-not_assayed_or_wild_type","nem2delta","ned1delta"],"synonyms":[{"name":"accumulation of internal endomembrane system structures","type":"exact"},{"name":"excess intracellular endomembrane system present during mitotic cell cycle","type":"related"},{"name":"excess intracellular endomembrane system present during vegetative growth","type":"exact"},{"name":"increased level of intracellular endomembrane system structures","type":"related"},{"name":"intracellular endomembrane system structures present in greater numbers","type":"exact"}],"termid":"FYPO:0002652","terms_by_termid":{"FYPO:0001784":null,"FYPO_EXT:0000001":null}}


id: GO:0033396
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the formation of beta-alanine via the intermediate 3-ureidopropionate.","definition_xrefs":["MetaCyc:PWY-3982","GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"beta-alanine biosynthetic process","termid":"GO:0019483"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0044281"},{"rel_name":"is_a","termid":"GO:0006520"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150","GO:0044281","GO:0006520"],"is_obsolete":false,"name":"beta-alanine biosynthetic process via 3-ureidopropionate","synonyms":[{"name":"beta-alanine anabolism via 3-ureidopropionate","type":"exact"},{"name":"beta-alanine formation via 3-ureidopropionate","type":"exact"},{"name":"beta-alanine synthesis via 3-ureidopropionate","type":"exact"}],"termid":"GO:0033396"}


id: PBO:0008966
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"cytochrome c oxidase subunit VIb-related protein (predicted)","termid":"PBO:0008966"}


id: MONDO:1011828
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"neoplasm, non-human animal","termid":"MONDO:0700098"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"cancer, non-human animal","secondary_identifiers":["OMIA:002587"],"termid":"MONDO:1011828","xrefs":{"Monarch":{"xref_id":"1011828"}}}


id: GO:0052721
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. Any process that modulates the frequency, rate or extent of apurinic/apyrimidinic (AP) endodeoxyribonuclease activity, the hydrolysis of ester linkages immediately 5' to an AP (also called abasic) site within a deoxyribonucleic acid molecule by creating internal breaks, generating a single-strand break with 5'-deoxyribose phosphate and 3'-hydroxyl ends.","definition_xrefs":["PMID:19401441"],"gene_count":0,"genotype_count":0,"name":"obsolete regulation of apurinic/apyrimidinic endodeoxyribonuclease activity (obsolete GO:0052721)","synonyms":[{"name":"regulation of AP endodeoxyribonuclease activity","type":"exact"},{"name":"regulation of abasic endodeoxyribonuclease activity","type":"exact"},{"name":"regulation of apurinic endodeoxyribonuclease activity","type":"narrow"},{"name":"regulation of apyrimidinic endodeoxyribonuclease activity","type":"narrow"}],"termid":"GO:0052721"}


id: FYPO:0001729
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cell phenotype observed in the vegetative growth phase of the life cycle in which the amount of L-cysteine measured in the vacuole is normal (i.e. indistinguishable from wild type).","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"normal level of substance in vacuole","termid":"FYPO:0001603"},{"relation_name":"is_a","term_name":"normal cellular cysteine level","termid":"FYPO:0001726"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0001312"},{"rel_name":"is_a","termid":"FYPO:0000257"},{"rel_name":"is_a","termid":"FYPO:0001320"}],"interesting_parent_ids":["FYPO:0001320","FYPO:0000257","FYPO:0001312","FYPO:0000002"],"is_obsolete":false,"name":"normal vacuolar cysteine level","synonyms":[{"name":"normal level of cysteine in vacuole","type":"exact"},{"name":"normal vacuolar L-cysteine level","type":"exact"},{"name":"normal vacuolar cysteine level during mitotic cell cycle","type":"related"},{"name":"normal vacuolar cysteine level during vegetative growth","type":"exact"}],"termid":"FYPO:0001729"}


id: PBO:0082019
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ZXD family zinc finger C","termid":"PBO:0082019"}


id: MONDO:1010752
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Hypertrichosis that occurs in dog.","definition_xrefs":["MONDO:patterns/nonhuman_disease"],"direct_ancestors":[{"relation_name":"is_a","term_name":"hypertrichosis, non-human animal","termid":"MONDO:1010130"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"hypertrichosis, dog","secondary_identifiers":["OMIA:000513-9615"],"termid":"MONDO:1010752","xrefs":{"Monarch":{"xref_id":"1010752"}}}


id: PBO:0041373
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"chromosome 4 open reading frame 47","termid":"PBO:0041373"}


id: PBO:0051203
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"immunoglobulin heavy variable 4-30-2","termid":"PBO:0051203"}


id: SO:0002077
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"A sequence variant that intersects the 5' UTR of an incompletely annotated transcript.","definition_xrefs":["SO:ke"],"direct_ancestors":[{"relation_name":"is_a","term_name":"incomplete_transcript_variant","termid":"SO:0002075"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"incomplete_transcript_5UTR_variant","secondary_identifiers":["http://annovar.openbioinformatics.org/en/latest/user-guide/gene/"],"synonyms":[{"name":"ANNOVAR:ncRNA_UTR5","type":"exact"},{"name":"incomplete transcript 5UTR variant","type":"exact"}],"termid":"SO:0002077"}


id: PBO:0047098
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"family with sequence similarity 151 member A","termid":"PBO:0047098"}


id: FYPO:0003392
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A molecular function phenotype in which occurrence of ubiquinone binding by a gene product (usually a protein) in a mutant is decreased. The affected gene product may be encoded by the mutated gene, or by a different gene.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal ubiquinone binding","termid":"FYPO:0003391"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0000652"},{"rel_name":"is_a","termid":"FYPO:0000707"}],"interesting_parent_ids":["FYPO:0000707","FYPO:0000652","FYPO:0001985"],"is_obsolete":false,"name":"decreased ubiquinone binding","synonyms":[{"name":"decreased coenzyme Q binding","type":"exact"},{"name":"reduced ubiquinone binding","type":"exact"}],"termid":"FYPO:0003392"}


id: GO:0005598
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"OBSOLETE. Any collagen trimer that does not form fibrils and that is relatively short compared to the collagen trimers that do form fibrils.","definition_xrefs":["ISBN:0198599587"],"gene_count":0,"genotype_count":0,"name":"obsolete short-chain collagen trimer (obsolete GO:0005598)","termid":"GO:0005598"}


id: MONDO:0000043
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete hypomagnesemia (obsolete MONDO:0000043)","termid":"MONDO:0000043","xrefs":{"Monarch":{"xref_id":"0000043"}}}


id: PBO:0050163
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"high mobility group box 3 pseudogene 19","termid":"PBO:0050163"}


id: PBO:0109263
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"retrograde transport protein, Golgi to ER, Erd1/Gmn2","termid":"PBO:0109263"}


id: FYPO:0001820
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A phenotype in which vegetative cell population growth is normal (i.e. indistinguishable from wild type) in a medium containing lithium ions.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"normal vegetative cell population growth","termid":"FYPO:0001357"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000139"},{"rel_name":"is_a","termid":"FYPO:0002057"},{"rel_name":"is_a","termid":"FYPO:0000257"},{"rel_name":"is_a","termid":"FYPO:0002058"},{"rel_name":"is_a","termid":"FYPO:0000003"},{"rel_name":"is_a","termid":"FYPO:0002060"}],"interesting_parent_ids":["FYPO:0000257","FYPO:0002060","FYPO:0002057","FYPO:0000003","FYPO:0002058","FYPO:0000139"],"is_obsolete":false,"name":"normal growth on lithium","synonyms":[{"name":"normal cell population growth in presence of lithium ions","type":"exact"},{"name":"normal cell population growth on lithium","type":"exact"},{"name":"normal cell population growth on lithium ion","type":"exact"},{"name":"normal cellular response to lithium ion","type":"related"},{"name":"normal growth on lithium ion","type":"exact"},{"name":"normal vegetative cell population growth on lithium ion","type":"exact"}],"termid":"FYPO:0001820"}


id: GO:0061609
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: beta-D-fructose-1-phosphate = D-glyceraldehyde + dihydroxyacetone phosphate.","definition_xrefs":["RHEA:30851","GOC:glycolysis","GOC:dph","ISBN:0201090910"],"direct_ancestors":[{"relation_name":"is_a","term_name":"aldehyde-lyase activity","termid":"GO:0016832"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0016829"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0003674","GO:0016829","GO:0003824"],"is_obsolete":false,"name":"fructose-1-phosphate aldolase activity","secondary_identifiers":["MetaCyc:RXN-8631","Reactome:R-HSA-5656438","Reactome:R-HSA-70342"],"termid":"GO:0061609"}


id: GO:0061466
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"OBSOLETE. The part of the plasma membrane that contributes to the structure of a cell junction.","definition_xrefs":["GOC:dph"],"gene_count":0,"genotype_count":0,"name":"obsolete plasma membrane part of cell junction (obsolete GO:0061466)","termid":"GO:0061466"}


id: PBO:0116319
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"F1-FO ATP synthase F(o) subunit H, Atp14","termid":"PBO:0116319"}


id: PBO:0061619
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"nudix hydrolase 4B","termid":"PBO:0061619"}


id: GO:0100013
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. Any transcription from RNA polymerase II promoter process that positively regulates fatty acid beta-oxidation.","definition_xrefs":["GOC:cjm","GOC:obol"],"gene_count":0,"genotype_count":0,"name":"obsolete positive regulation of fatty acid beta-oxidation by transcription from RNA polymerase II promoter (obsolete GO:0100013)","termid":"GO:0100013"}


id: MONDO:1011095
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Hypospadias that occurs in sheep.","definition_xrefs":["MONDO:patterns/nonhuman_disease"],"direct_ancestors":[{"relation_name":"is_a","term_name":"hypospadias, non-human animal","termid":"MONDO:1010269"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"hypospadias, sheep","secondary_identifiers":["OMIA:001187-9940"],"termid":"MONDO:1011095","xrefs":{"Monarch":{"xref_id":"1011095"}}}


id: MONDO:0008860
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":"beta-aminoisobutyric acid, urinary excretion of","secondary_identifiers":["UMLS:C1859518","MEDGEN:347169","MESH:C565904","OMIM:210100"],"synonyms":[{"name":"BAIBA","type":"related"},{"name":"BETA-aminoisobutyric aciduria","type":"related"},{"name":"Baib urinary excretion","type":"related"},{"name":"Beta-aminoisobutyric aciduria","type":"related"},{"name":"beta-aminoisobutyric acid, urinary excretion of","type":"exact"},{"name":"hyper-Beta-aminoisobutyric aciduria","type":"related"}],"termid":"MONDO:0008860","xrefs":{"Monarch":{"xref_id":"0008860"}}}


id: PBO:0047965
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"fragile site, aphidicolin type, common, fra(X)(q22.1) C","termid":"PBO:0047965"}


id: MONDO:0001729
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"Meniere disease","termid":"MONDO:0007972"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"active cochlear Meniere disease","secondary_identifiers":["SCTID:194349005","UMLS:C0155497","DOID:13492","ICD9:386.02","MEDGEN:509990"],"synonyms":[{"name":"active Meniere's disease, cochlear","type":"exact"},{"name":"active cochlear Meniere disease","type":"exact"},{"name":"active cochlear Meniere's disease","type":"exact"},{"name":"cochlear active Mnire's disease","type":"exact"}],"termid":"MONDO:0001729","xrefs":{"Monarch":{"xref_id":"0001729"}}}


id: PR:Q09874
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- SPAC12G12.11c gene.","definition_xrefs":["PRO:DNx","UniProtKB:Q09874"],"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 C12G12.11c (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAC12G12.11c","synonyms":[{"name":"Spom972h-SPAC12G12.11c","type":"exact"}],"termid":"PR:Q09874"}


id: PBO:0051676
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"inhibitor of growth family, X-linked (pseudogene)","termid":"PBO:0051676"}


id: GO:0050340
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"OBSOLETE. Catalysis of the reaction: thymidylate + H2O = thymidine + phosphate.","definition_xrefs":["MetaCyc:THYMIDYLATE-5-PHOSPHATASE-RXN"],"gene_count":0,"genotype_count":0,"name":"obsolete thymidylate 5'-phosphatase activity (obsolete GO:0050340)","synonyms":[{"name":"dTMPase activity","type":"related"},{"name":"deoxythymidylate 5'-nucleotidase activity","type":"related"},{"name":"deoxythymidylate phosphohydrolase activity","type":"related"},{"name":"deoxythymidylic 5'-nucleotidase activity","type":"related"},{"name":"thymidylate 5' phosphatase activity","type":"exact"},{"name":"thymidylate 5'-nucleotidase activity","type":"related"},{"name":"thymidylate 5'-phosphohydrolase activity","type":"related"},{"name":"thymidylate nucleotidase activity","type":"related"}],"termid":"GO:0050340"}


id: FYPO:0003204
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cell phenotype observed in the vegetative growth phase of the life cycle in which the cell does not contain a detectable secondary cell septum.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"aseptate","termid":"FYPO:0000949"},{"relation_name":"is_a","term_name":"abnormal septum during vegetative growth","termid":"FYPO:0002455"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"output_of","termid":"FYPO:0000631"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"output_of","termid":"FYPO:0005447"},{"rel_name":"output_of","termid":"FYPO:0000032"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"output_of","termid":"FYPO:0001985"},{"rel_name":"output_of","termid":"FYPO:0001320"}],"interesting_parent_ids":["FYPO:0000631","FYPO:0001985","FYPO:0000032","FYPO:0001320","FYPO:0000002","FYPO:0005447"],"is_obsolete":false,"name":"secondary cell septum absent from cell during vegetative growth","synonyms":[{"name":"absent secondary cell septum during vegetative growth","type":"exact"},{"name":"secondary cell septum absent from cell during mitotic cell cycle","type":"related"},{"name":"secondary septum absent from cell during vegetative growth","type":"exact"}],"termid":"FYPO:0003204"}


id: PBO:0087485
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Subunit of cohesin loading factor (Scc2p-Scc4p); a complex required for loading of cohesin complexes onto chromosomes; involved in establishing sister chromatid cohesion during DSB repair via histone H2AX; promotes gene expression program that supports translational fidelity; evolutionarily-conserved adherin; relocalizes to cytosol in response to hypoxia; human disorder Cornelia de Lange syndrome is caused by mutations in NIPBL, the human ortholog of SCC2; conserved role in NHEJ","termid":"PBO:0087485"}


id: PBO:0074672
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"small nucleolar RNA, H/ACA box 58","termid":"PBO:0074672"}


id: PBO:0058524
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 6069","termid":"PBO:0058524"}


id: FYECO:0000170
data:
  {"annotation_feature_type":"gene","cv_name":"fission_yeast_phenotype_condition","definition":"An experimental condition in which hydroxyurea was added to the medium or assay buffer in excess compared to standard medium or assay buffers.","definition_xrefs":["PomBase:al"],"direct_ancestors":[{"relation_name":"is_a","term_name":"grouping excess","termid":"FYECO:0000109"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"+ HU","synonyms":[{"name":"hydroxyurea added","type":"exact"}],"termid":"FYECO:0000170"}


id: PBO:0030050
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-abnormal_ferric-chelate_reductase_activity","termid":"PBO:0030050"}


id: PATO:0000006
data:
  {"annotation_feature_type":"gene","cv_name":"quality","gene_count":0,"genotype_count":0,"name":"OBSOLETE PATO:0000006 process (obsolete PATO:0000006)","termid":"PATO:0000006"}


id: MONDO:0957112
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"muscular channelopathy","termid":"MONDO:0019119"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"neurological muscular channelopathy due to a genetic chloride channel defect","secondary_identifiers":["UMLS:C5681687","GARD:19564","MEDGEN:1843259","Orphanet:98739"],"termid":"MONDO:0957112","xrefs":{"Monarch":{"xref_id":"0957112"}}}


id: PBO:0079780
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"UDP glucuronosyltransferase family 1 member A1","termid":"PBO:0079780"}


id: MONDO:0008951
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":"cerebrocortical degeneration of infancy","secondary_identifiers":["OMIM:213950","MESH:C565863","UMLS:C1859257","MEDGEN:347837"],"synonyms":[{"name":"cerebrocortical degeneration of infancy","type":"exact"}],"termid":"MONDO:0008951","xrefs":{"Monarch":{"xref_id":"0008951"}}}


id: PBO:0070256
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U11 small nuclear","termid":"PBO:0070256"}


id: PBO:0059849
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 2","termid":"PBO:0059849"}


id: PBO:0046236
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"elongin C pseudogene 30","termid":"PBO:0046236"}


id: GO:0009767
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"A process, occurring as part of photosynthesis, in which light provides the energy for a series of electron carriers to operate together to transfer electrons and generate a transmembrane electrochemical gradient.","definition_xrefs":["GOC:mtg_electron_transport","ISBN:0198547684"],"direct_ancestors":[{"relation_name":"is_a","term_name":"electron transport chain","termid":"GO:0022900"},{"relation_name":"part_of","term_name":"photosynthesis, light reaction","termid":"GO:0019684"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0006091"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"part_of","termid":"GO:0006091"}],"interesting_parent_ids":["GO:0006091","GO:0008150"],"is_obsolete":false,"name":"photosynthetic electron transport chain","secondary_identifiers":["GO:0009774","GO:0009775","GO:0009776"],"synonyms":[{"name":"electron carrier, chlorophyll electron transport system","type":"exact"},{"name":"photosynthetic electron transport in cytochrome b6/f","type":"narrow"},{"name":"photosynthetic electron transport in plastocyanin","type":"narrow"},{"name":"photosynthetic electron transport in plastoquinone","type":"narrow"}],"termid":"GO:0009767"}


id: MONDO:0014217
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"hereditary hemorrhagic telangiectasia","termid":"MONDO:0019180"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0000426"}],"interesting_parent_ids":["MONDO:0000426"],"is_obsolete":false,"name":"telangiectasia, hereditary hemorrhagic, type 5","secondary_identifiers":["MEDGEN:816040","OMIM:615506","UMLS:C3809710","GARD:15978"],"synonyms":[{"name":"GDF2 hereditary hemorrhagic telangiectasia","type":"exact"},{"name":"GDF2 related HHT-like syndrome","type":"exact"},{"name":"HHT5","type":"related"},{"name":"hereditary hemorrhagic telangiectasia caused by mutation in GDF2","type":"exact"},{"name":"telangiectasia, hereditary hemorrhagic, type 5","type":"exact"}],"termid":"MONDO:0014217","xrefs":{"Monarch":{"xref_id":"0014217"}}}


id: GO:0061162
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The specification and formation of monopolar intracellular organization or cell growth patterns. Monopolar cell organization is directional organization along an axis.","definition_xrefs":["GOC:vw","GOC:dph"],"direct_ancestors":[{"relation_name":"is_a","term_name":"establishment of cell polarity","termid":"GO:0030010"},{"relation_name":"is_a","term_name":"establishment or maintenance of monopolar cell polarity","termid":"GO:0061339"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0007163"}],"interesting_parent_ids":["GO:0008150","GO:0007163"],"is_obsolete":false,"name":"establishment of monopolar cell polarity","termid":"GO:0061162"}


id: PBO:0041262
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"complement C1q B chain","termid":"PBO:0041262"}


id: PBO:0065206
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"pre-mRNA processing factor 38B","termid":"PBO:0065206"}


id: GO:2000087
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of mesonephric glomerulus development.","definition_xrefs":["GOC:mtg_kidney_jan10"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of mesonephros development","termid":"GO:0061217"},{"relation_name":"is_a","term_name":"regulation of glomerulus development","termid":"GO:0090192"},{"relation_name":"regulates","term_name":"mesonephric glomerulus development","termid":"GO:0061224"}],"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 mesonephric glomerulus development","termid":"GO:2000087"}


id: MONDO:0014446
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"Bardet-Biedl syndrome","termid":"MONDO:0015229"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0006025"}],"interesting_parent_ids":["MONDO:0006025"],"is_obsolete":false,"name":"Bardet-Biedl syndrome 18","secondary_identifiers":["GARD:16042","UMLS:C3806174","DOID:0110140","MEDGEN:812504","OMIM:615995"],"synonyms":[{"name":"BBIP1 Bardet-Biedl syndrome","type":"exact"},{"name":"BBS18","type":"exact"},{"name":"Bardet-Biedl syndrome 18","type":"exact"},{"name":"Bardet-Biedl syndrome caused by mutation in BBIP1","type":"exact"},{"name":"Bardet-Biedl syndrome type 18","type":"exact"}],"termid":"MONDO:0014446","xrefs":{"Monarch":{"xref_id":"0014446"}}}


id: GO:1902172
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of keratinocyte apoptotic process.","definition_xrefs":["GOC:rl","PMID:18938133","GOC:mtg_apoptosis","GOC:TermGenie","GOC:BHF"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of epithelial cell apoptotic process","termid":"GO:1904035"},{"relation_name":"regulates","term_name":"keratinocyte apoptotic process","termid":"GO:0097283"}],"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 keratinocyte apoptotic process","synonyms":[{"name":"regulation of keratinocyte apoptosis","type":"narrow"}],"termid":"GO:1902172"}


id: GO:0043175
data:
  {"annotated_genes":["SJAG_01744","SJAG_01151","SJAG_00483","SJAG_04353","SJAG_03118","SJAG_04933","SJAG_01610","SJAG_02898","SJAG_02203","SJAG_00448","SJAG_02037","SJAG_00139"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[67668],"is_not":false,"summary":null,"term":"GO:0043175"},{"annotations":[71792],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0001042"},{"annotations":[65338],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0099122"},{"annotations":[72896,78413],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1990269"},{"annotations":[57531,71379,76574,78981,72591,78970],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0000993"},{"annotations":[74067],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0000994"}]},"cv_name":"molecular_function","definition":"Binding to an RNA polymerase core enzyme, containing a specific subunit composition defined as the core enzyme.","definition_xrefs":["GOC:txnOH","GOC:jl"],"direct_ancestors":[{"relation_name":"is_a","term_name":"RNA polymerase binding","termid":"GO:0070063"}],"gene_count":12,"genes_by_uniquename":{"SJAG_00139":null,"SJAG_00448":null,"SJAG_00483":null,"SJAG_01151":null,"SJAG_01610":null,"SJAG_01744":null,"SJAG_02037":null,"SJAG_02203":null,"SJAG_02898":null,"SJAG_03118":null,"SJAG_04353":null,"SJAG_04933":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005488"},{"rel_name":"is_a","termid":"GO:0005515"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0003674","GO:0005488","GO:0005515"],"is_obsolete":false,"name":"RNA polymerase core enzyme binding","references_by_uniquename":{"GO_REF:0000002":null,"GO_REF:0000033":null},"termid":"GO:0043175","terms_by_termid":{"GO:0000993":null,"GO:0000994":null,"GO:0001042":null,"GO:0043175":null,"GO:0099122":null,"GO:1990269":null}}


id: MONDO:0001411
data:
  {"annotated_genes":["SJAG_03249","SJAG_04270","SJAG_02165","SJAG_04995","SJAG_02200"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[85944],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0008726"},{"annotations":[85420],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0020667"},{"annotations":[85768],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0014558"},{"annotations":[85873,85874],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0009039"},{"annotations":[86945],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0013740"}]},"cv_name":"mondo","definition":"A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue.","definition_xrefs":["MESH:D013580","Wikipedia:Synostosis"],"direct_ancestors":[{"relation_name":"is_a","term_name":"dysostosis","termid":"MONDO:0018234"}],"gene_count":5,"genes_by_uniquename":{"SJAG_02165":null,"SJAG_02200":null,"SJAG_03249":null,"SJAG_04270":null,"SJAG_04995":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005497"}],"interesting_parent_ids":["MONDO:0005497"],"is_obsolete":false,"name":"synostosis","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["DOID:11971","MEDGEN:11689","UMLS:C0039093"],"termid":"MONDO:0001411","terms_by_termid":{"MONDO:0008726":null,"MONDO:0009039":null,"MONDO:0013740":null,"MONDO:0014558":null,"MONDO:0020667":null},"xrefs":{"Monarch":{"xref_id":"0001411"}}}


id: PBO:0077192
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"T cell leukemia homeobox 3","termid":"PBO:0077192"}


id: MONDO:0017717
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete metabolic disease due to other fatty acid oxidation disorder (obsolete MONDO:0017717)","secondary_identifiers":["Orphanet:309133"],"termid":"MONDO:0017717","xrefs":{"Monarch":{"xref_id":"0017717"}}}


id: PBO:0004320
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"transcription factor TFIID complex subunit Taf5-like","termid":"PBO:0004320"}


id: PBO:0070348
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNY4 pseudogene 21","termid":"PBO:0070348"}


id: PBO:0027081
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_oxidation_during_cellular_response_to_hydrogen_peroxide","termid":"PBO:0027081"}


id: PBO:0051817
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"interleukin 1 receptor associated kinase 2","termid":"PBO:0051817"}


id: PBO:0058955
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"MAPK interacting serine/threonine kinase 2","termid":"PBO:0058955"}


id: GO:0060082
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The reflex process in which a mechanical stimulus applied to the eye elicits a response of the eyelid closing.","definition_xrefs":["GOC:dph","PMID:2913208"],"direct_ancestors":[{"relation_name":"is_a","term_name":"reflex","termid":"GO:0060004"}],"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":"eye blink reflex","synonyms":[{"name":"nictitating membrane reflex","type":"exact"}],"termid":"GO:0060082"}


id: PBO:0046708
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ETS variant transcription factor 6","termid":"PBO:0046708"}


id: SO:0000125
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"An inducer molecule is required for transcription to occur.","definition_xrefs":["SO:ke"],"direct_ancestors":[{"relation_name":"is_a","term_name":"transcriptionally_regulated","termid":"SO:0000123"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"transcriptionally_induced","synonyms":[{"name":"transcriptionally induced","type":"exact"}],"termid":"SO:0000125"}


id: MONDO:0005866
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"An infection that is caused by Mycobacterium avium.","definition_xrefs":["NCIT:P378"],"direct_ancestors":[{"relation_name":"is_a","term_name":"primary bacterial infectious disease","termid":"MONDO:0000314"},{"relation_name":"is_a","term_name":"mycobacterial infectious disease","termid":"MONDO:0020590"},{"relation_name":"is_a","term_name":"vector-borne disease","termid":"MONDO:0100120"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Mycobacterium avium complex disease","secondary_identifiers":["NCIT:C36197","SCTID:373436002","DOID:2755","ICD9:031.8","UMLS:C0026916","MESH:D015270","EFO:0007386","MEDGEN:6478"],"synonyms":[{"name":"DMAC","type":"related"},{"name":"MAC disease","type":"exact"},{"name":"Mycobacterium avium Complex","type":"exact"},{"name":"Mycobacterium avium complex caused disease or disorder","type":"exact"},{"name":"Mycobacterium avium complex disease or disorder","type":"exact"},{"name":"Mycobacterium avium complex infectious disease","type":"exact"},{"name":"Mycobacterium avium infection","type":"exact"},{"name":"disseminated infection with mycobacterium avium complex","type":"related"},{"name":"infection due to Mycobacterium intracellulare","type":"exact"}],"termid":"MONDO:0005866","xrefs":{"Monarch":{"xref_id":"0005866"}}}


id: GO:0045696
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that activates or increases the frequency, rate or extent of embryo sac egg cell differentiation.","definition_xrefs":["GOC:mtg_plant","GOC:go_curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"positive regulation of cell differentiation","termid":"GO:0045597"},{"relation_name":"is_a","term_name":"regulation of embryo sac egg cell differentiation","termid":"GO:0045694"},{"relation_name":"is_a","term_name":"positive regulation of multicellular organismal process","termid":"GO:0051240"},{"relation_name":"is_a","term_name":"positive regulation of reproductive process","termid":"GO:2000243"},{"relation_name":"positively_regulates","term_name":"embryo sac egg cell differentiation","termid":"GO:0009560"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"positive regulation of embryo sac egg cell differentiation","synonyms":[{"name":"activation of female gametophyte egg cell differentiation","type":"narrow"},{"name":"positive regulation of female gametophyte egg cell differentiation","type":"exact"},{"name":"stimulation of female gametophyte egg cell differentiation","type":"narrow"},{"name":"up regulation of female gametophyte egg cell differentiation","type":"exact"},{"name":"up-regulation of female gametophyte egg cell differentiation","type":"exact"},{"name":"upregulation of female gametophyte egg cell differentiation","type":"exact"}],"termid":"GO:0045696"}


id: PBO:0005079
data:
  {"annotation_feature_type":"gene","cv_name":"EC numbers","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"3.5.-.-","termid":"PBO:0005079"}


id: GO:0002780
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the formation of an antibacterial peptide.","definition_xrefs":["PMID:15638771","ISBN:0781735149","PMID:11807545","GOC:add"],"direct_ancestors":[{"relation_name":"is_a","term_name":"antimicrobial peptide biosynthetic process","termid":"GO:0002777"},{"relation_name":"part_of","term_name":"antibacterial peptide production","termid":"GO:0002778"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"part_of","termid":"GO:0010467"}],"interesting_parent_ids":["GO:0008150","GO:0010467"],"is_obsolete":false,"name":"antibacterial peptide biosynthetic process","termid":"GO:0002780"}


id: PBO:0030098
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-decreased_cellular_glutathione_level_during_vegetative_growth","termid":"PBO:0030098"}


id: GO:0030908
data:
  {"annotated_genes":["SJAG_01471"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[67768],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0016539"}]},"cv_name":"biological_process","definition":"The post-translational removal of peptide sequences from within a protein sequence.","definition_xrefs":["GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"protein processing","termid":"GO:0016485"}],"gene_count":1,"genes_by_uniquename":{"SJAG_01471":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0051604"},{"rel_name":"part_of","termid":"GO:0010467"}],"interesting_parent_ids":["GO:0051604","GO:0010467","GO:0008150"],"is_obsolete":false,"name":"protein splicing","references_by_uniquename":{"GO_REF:0000002":null},"secondary_identifiers":["Wikipedia:Protein_splicing"],"termid":"GO:0030908","terms_by_termid":{"GO:0016539":null}}


id: MONDO:0009146
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Ectodermal dysplasia-sensorineural deafness syndrome is characterized by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive.","definition_xrefs":["Orphanet:1883"],"direct_ancestors":[{"relation_name":"is_a","term_name":"ectodermal dysplasia syndrome","termid":"MONDO:0019287"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005093"}],"interesting_parent_ids":["MONDO:0005093"],"is_obsolete":false,"name":"ectodermal dysplasia-sensorineural deafness syndrome","secondary_identifiers":["MEDGEN:346503","OMIM:224800","UMLS:C1857068","GARD:9723","MESH:C565606","MESH:C535757"],"synonyms":[{"name":"Mikaelian syndrome","type":"related"},{"name":"congenital ectodermal dysplasia with hearing loss","type":"related"},{"name":"ectodermal dysplasia and neurosensory deafness","type":"related"},{"name":"ectodermal dysplasia-sensorineural hearing loss syndrome","type":"exact"},{"name":"hidrotic ectodermal dysplasia, sensorineural hearing loss and contracture of the fifth fingers","type":"related"}],"termid":"MONDO:0009146","xrefs":{"Monarch":{"xref_id":"0009146"}}}


id: PBO:0074483
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"SET and MYND domain containing 2","termid":"PBO:0074483"}


id: MONDO:0043349
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A reactive, well-circumscribed vascular lesion. It is characterized by the formation of thin papillae projecting within the lumen of blood vessels. The papillae are lined by plump endothelial cells. Blood clots are also present.","definition_xrefs":["NCIT:C4391"],"direct_ancestors":[{"relation_name":"is_a","term_name":"angiomatosis","termid":"MONDO:0024461"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"intravascular papillary endothelial hyperplasia","secondary_identifiers":["SCTID:238770007","Orphanet:673525","UMLS:C0343083","icd11.foundation:1397961760","MEDGEN:91005"],"synonyms":[{"name":"Masson lesion","type":"exact"},{"name":"Masson pseudotumor","type":"exact"},{"name":"Masson's pseudoangiosarcoma","type":"related"},{"name":"Masson's pseudosarcoma","type":"exact"},{"name":"Masson's pseudotumor","type":"exact"},{"name":"Masson's tumor","type":"related"},{"name":"Masson's tumour","type":"related"},{"name":"Masson's vegetant hemangioma","type":"exact"},{"name":"Masson's vegetant intravascular hemangio-endothelioma","type":"related"},{"name":"intravascular papillary endothelial hyperplasia","type":"exact"},{"name":"masson's pseudosarcoma","type":"related"},{"name":"papillary endothelial hyperplasia","type":"exact"}],"termid":"MONDO:0043349","xrefs":{"Monarch":{"xref_id":"0043349"}}}


id: MONDO:0019253
data:
  {"annotated_genes":["SJAG_04203"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[86869],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0044330"}]},"cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"inborn disorder of biogenic amine metabolism and transport","termid":"MONDO:0019250"}],"gene_count":1,"genes_by_uniquename":{"SJAG_04203":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005066"}],"interesting_parent_ids":["MONDO:0005066"],"is_obsolete":false,"name":"metabolic disease involving other neurotransmitter deficiency","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["GARD:18979","icd11.foundation:946446904","Orphanet:79219","UMLS:C5681275","MEDGEN:1843271"],"termid":"MONDO:0019253","terms_by_termid":{"MONDO:0044330":null},"xrefs":{"Monarch":{"xref_id":"0019253"}}}


id: MONDO:0022694
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":"cerebral calcifications opalescent teeth phosphaturia","termid":"MONDO:0022694","xrefs":{"Monarch":{"xref_id":"0022694"}}}


id: PBO:0067690
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, 5.8S ribosomal N2","termid":"PBO:0067690"}


id: PBO:0031861
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-abnormal_cellular_component_organization","termid":"PBO:0031861"}


id: PBO:0048773
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"geminin DNA replication inhibitor","termid":"PBO:0048773"}


id: GO:0061562
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process that contributes to creating the structural organization of a cranial ganglion. This process pertains to the physical shaping of a rudimentary structure.","definition_xrefs":["GOC:dph"],"direct_ancestors":[{"relation_name":"is_a","term_name":"ganglion structural organization","termid":"GO:0061555"},{"relation_name":"part_of","term_name":"cranial nerve structural organization","termid":"GO:0021604"},{"relation_name":"part_of","term_name":"cranial ganglion morphogenesis","termid":"GO:0061559"}],"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":"cranial ganglion structural organization","synonyms":[{"name":"cranial ganglia structural organization","type":"related"}],"termid":"GO:0061562"}


id: MONDO:0043108
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":"infantile striato thalamic degeneration","secondary_identifiers":["GARD:3004","Orphanet:1575"],"termid":"MONDO:0043108","xrefs":{"Monarch":{"xref_id":"0043108"}}}


id: MONDO:0021075
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"polyp","termid":"MONDO:0005079"},{"relation_name":"is_a","term_name":"precancerous condition","termid":"MONDO:0021074"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"neoplastic polyp","secondary_identifiers":["UMLS:C1334941","MEDGEN:233751","NCIT:C7068"],"synonyms":[{"name":"neoplastic polyp","type":"exact"}],"termid":"MONDO:0021075","xrefs":{"Monarch":{"xref_id":"0021075"}}}


id: GO:0044060
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of an endocrine process, a process involving the secretion of or response to endocrine hormones. An endocrine hormone is a hormone released into the circulatory system.","definition_xrefs":["GOC:jl"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of system process","termid":"GO:0044057"},{"relation_name":"regulates","term_name":"endocrine process","termid":"GO:0050886"}],"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 endocrine process","synonyms":[{"name":"regulation of endocrine system process","type":"exact"}],"termid":"GO:0044060"}


id: PBO:0039917
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Rho guanine nucleotide exchange factor 17","termid":"PBO:0039917"}


id: GO:0070507
data:
  {"annotated_genes":["SJAG_00244","SJAG_04461","SJAG_01821","SJAG_04312","SJAG_00514","SJAG_02332","SJAG_04464","SJAG_03637","SJAG_00333","SJAG_00845","SJAG_00661","SJAG_02045"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[91468,100520,104046,105716,113431,115706],"is_not":false,"summary":null,"term":"GO:0070507"},{"annotations":[102191],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0031117"},{"annotations":[111813],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0110161"},{"annotations":[71006],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0031110"},{"annotations":[71932],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1901673"},{"annotations":[115437],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0110162"},{"annotations":[90198],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0060236"}]},"cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins.","definition_xrefs":["GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of microtubule-based process","termid":"GO:0032886"},{"relation_name":"is_a","term_name":"regulation of cytoskeleton organization","termid":"GO:0051493"},{"relation_name":"regulates","term_name":"microtubule cytoskeleton organization","termid":"GO:0000226"}],"gene_count":12,"genes_by_uniquename":{"SJAG_00244":null,"SJAG_00333":null,"SJAG_00514":null,"SJAG_00661":null,"SJAG_00845":null,"SJAG_01821":null,"SJAG_02045":null,"SJAG_02332":null,"SJAG_03637":null,"SJAG_04312":null,"SJAG_04461":null,"SJAG_04464":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"regulates","termid":"GO:0007010"},{"rel_name":"regulates","termid":"GO:0000226"}],"interesting_parent_ids":["GO:0008150","GO:0007010","GO:0000226"],"is_obsolete":false,"name":"regulation of microtubule cytoskeleton organization","references_by_uniquename":{"GO_REF:0000033":null,"GO_REF:0000107":null},"synonyms":[{"name":"regulation of microtubule cytoskeleton organisation","type":"exact"},{"name":"regulation of microtubule dynamics","type":"exact"}],"termid":"GO:0070507","terms_by_termid":{"GO:0031110":null,"GO:0031117":null,"GO:0060236":null,"GO:0070507":null,"GO:0110161":null,"GO:0110162":null,"GO:1901673":null}}


id: GO:0010068
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The formation of the primary meristem or meristematic tissue that gives rise to the epidermis.","definition_xrefs":["GOC:tb","ISBN:0471245208"],"direct_ancestors":[{"relation_name":"is_a","term_name":"primary meristem tissue development","termid":"GO:0010065"}],"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":"protoderm histogenesis","termid":"GO:0010068"}


id: PBO:0047169
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"family with sequence similarity 197 Y-linked member 2","termid":"PBO:0047169"}


id: GO:0042843
data:
  {"annotated_genes":["SJAG_02010","SJAG_03958","SJAG_04660"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[95358,96085,101521],"is_not":false,"summary":null,"term":"GO:0042843"}]},"cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the breakdown of D-xylose, a naturally occurring plant polysaccharide.","definition_xrefs":["ISBN:0198506732"],"direct_ancestors":[{"relation_name":"is_a","term_name":"pentose catabolic process","termid":"GO:0019323"},{"relation_name":"is_a","term_name":"D-xylose metabolic process","termid":"GO:0042732"}],"gene_count":3,"genes_by_uniquename":{"SJAG_02010":null,"SJAG_03958":null,"SJAG_04660":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0044281"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0005975"}],"interesting_parent_ids":["GO:0005975","GO:0044281","GO:0008150"],"is_obsolete":false,"name":"D-xylose catabolic process","references_by_uniquename":{"GO_REF:0000107":null},"synonyms":[{"name":"D-xylose breakdown","type":"exact"},{"name":"D-xylose catabolism","type":"exact"},{"name":"D-xylose degradation","type":"exact"}],"termid":"GO:0042843","terms_by_termid":{"GO:0042843":null}}


id: MONDO:0007620
data:
  {"annotated_genes":["SJAG_03162"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[87280],"is_not":false,"summary":null,"term":"MONDO:0007620"}]},"cv_name":"mondo","definition":"Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.","definition_xrefs":["Orphanet:79292"],"direct_ancestors":[{"relation_name":"is_a","term_name":"LCAT deficiency","termid":"MONDO:0018999"},{"relation_name":"is_a","term_name":"inborn errors of metabolism","termid":"MONDO:0019052"}],"gene_count":1,"genes_by_uniquename":{"SJAG_03162":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005066"}],"interesting_parent_ids":["MONDO:0005066"],"is_obsolete":false,"name":"fish eye disease","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["GARD:6450","MEDGEN:83354","OMIM:136120","SCTID:238092004","UMLS:C0342895"],"synonyms":[{"name":"FED","type":"exact"},{"name":"LCATA deficiency","type":"related"},{"name":"alpha-LCAT deficiency","type":"related"},{"name":"alpha-lecithin cholesterol acyltransferase deficiency","type":"related"},{"name":"alpha-lecithin:cholesterol acyltransferase deficiency","type":"related"},{"name":"dyslipoproteinemic corneal dystrophy","type":"related"},{"name":"fed","type":"exact"},{"name":"fish eye disease","type":"exact"},{"name":"fish-eye disease","type":"related"},{"name":"partial LCAT deficiency","type":"exact"}],"termid":"MONDO:0007620","terms_by_termid":{"MONDO:0007620":null},"xrefs":{"Monarch":{"xref_id":"0007620"}}}


id: PBO:0034288
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-indirectly_inhibits","termid":"PBO:0034288"}


id: PBO:0030754
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-decreased_glutamate_dehydrogenase_(NADP+)_activity","termid":"PBO:0030754"}


id: PBO:0091520
data:
  {"annotation_feature_type":"gene","cv_name":"complementation","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"mak1/mak2/mak3 triple deletion functionally complemented by Candida albicans CHK1","termid":"PBO:0091520"}


id: PBO:0058513
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 5701-3","termid":"PBO:0058513"}


id: SO:0000135
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"The maternal copy of the gene is modified, rendering it transcriptionally silent.","definition_xrefs":["SO:ke"],"direct_ancestors":[{"relation_name":"is_a","term_name":"genomically_imprinted","termid":"SO:0000134"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"maternally_imprinted","synonyms":[{"name":"maternally imprinted","type":"exact"}],"termid":"SO:0000135"}


id: PBO:0071182
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein L23a pseudogene 23","termid":"PBO:0071182"}


id: MONDO:0100269
data:
  {"annotated_genes":["SJAG_03440"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[87561],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0013942"},{"annotations":[87559],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0013943"}]},"cv_name":"mondo","definition":"Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX16 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_03440":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005244"},{"rel_name":"is_a","termid":"MONDO:0019053"},{"rel_name":"is_a","termid":"MONDO:0005559"},{"rel_name":"is_a","termid":"MONDO:0006025"},{"rel_name":"is_a","termid":"MONDO:0005066"}],"interesting_parent_ids":["MONDO:0005066","MONDO:0005244","MONDO:0019053","MONDO:0005559","MONDO:0006025"],"is_obsolete":false,"name":"peroxisome biogenesis disorder due to PEX16 defect","references_by_uniquename":{"PB_REF:0000006":null},"synonyms":[{"name":"PEX16 related Zellweger spectrum disorder","type":"exact"},{"name":"peroxisome biogenesis disorder due to PEX16 defect","type":"exact"}],"termid":"MONDO:0100269","terms_by_termid":{"MONDO:0013942":null,"MONDO:0013943":null},"xrefs":{"Monarch":{"xref_id":"0100269"}}}


id: GO:0006083
data:
  {"annotated_genes":["SJAG_02985","SJAG_02769","SJAG_02741","SJAG_01989"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[77146,114731],"is_not":false,"summary":null,"term":"GO:0006083"},{"annotations":[91766,68906],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0019427"}]},"cv_name":"biological_process","definition":"The chemical reactions and pathways involving acetate, the anion of acetic acid.","definition_xrefs":["GOC:go_curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"monocarboxylic acid metabolic process","termid":"GO:0032787"}],"gene_count":4,"genes_by_uniquename":{"SJAG_01989":null,"SJAG_02741":null,"SJAG_02769":null,"SJAG_02985":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0044281"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0044281","GO:0008150"],"is_obsolete":false,"name":"acetate metabolic process","references_by_uniquename":{"GO_REF:0000002":null,"GO_REF:0000033":null,"GO_REF:0000107":null},"synonyms":[{"name":"acetate metabolism","type":"exact"}],"termid":"GO:0006083","terms_by_termid":{"GO:0006083":null,"GO:0019427":null}}


id: PR:Q09861
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- SPAC29E6.07 gene.","definition_xrefs":["UniProtKB:Q09861","PRO:DNx"],"direct_ancestors":[{"relation_name":"is_a","term_name":"Schizosaccharomyces pombe 972h- protein","termid":"PR:000029043"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"uncharacterized protein C29E6.07 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAC29E6.07","synonyms":[{"name":"Spom972h-SPAC29E6.07","type":"exact"}],"termid":"PR:Q09861"}


id: MONDO:0009514
data:
  {"annotated_genes":["SJAG_04110"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[85831],"is_not":false,"summary":null,"term":"MONDO:0009514"}]},"cv_name":"mondo","definition":"A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.","definition_xrefs":["Orphanet:2377"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"syndromic intellectual disability","termid":"MONDO:0000508"},{"relation_name":"is_a","term_name":"syndromic disease","termid":"MONDO:0002254"},{"relation_name":"is_a","term_name":"autosomal recessive disease","termid":"MONDO:0006025"},{"relation_name":"is_a","term_name":"multiple congenital anomalies/dysmorphic syndrome-intellectual disability","termid":"MONDO:0015159"},{"relation_name":"is_a","term_name":"congenital hypogonadotropic hypogonadism","termid":"MONDO:0015770"}],"gene_count":1,"genes_by_uniquename":{"SJAG_04110":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0006025"}],"interesting_parent_ids":["MONDO:0006025"],"is_obsolete":false,"name":"Laurence-Moon syndrome","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["DOID:1930","GARD:12635","OMIM:245800","SCTID:232059000","MEDGEN:44078","MESH:D007849","SCTID:5619004","icd11.foundation:458834940","NCIT:C34760","UMLS:C0023138","ICD9:253.4","MedDRA:10056710"],"synonyms":[{"name":"LMS","type":"exact"},{"name":"LNMS","type":"related"},{"name":"Laurence-MOON syndrome","type":"related"},{"name":"Laurence-Moon syndrome","type":"exact"},{"name":"Laurence-Moon-Biedl syndrome","type":"related"}],"termid":"MONDO:0009514","terms_by_termid":{"MONDO:0009514":null},"xrefs":{"Monarch":{"xref_id":"0009514"}}}


id: MONDO:1011554
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Ligneous membranitis that occurs in dog.","definition_xrefs":["MONDO:patterns/nonhuman_disease"],"direct_ancestors":[{"relation_name":"is_a","term_name":"ligneous membranitis, non-human animal","termid":"MONDO:1011459"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ligneous membranitis, dog","secondary_identifiers":["OMIA:002020-9615"],"termid":"MONDO:1011554","xrefs":{"Monarch":{"xref_id":"1011554"}}}


id: MONDO:0013265
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"autism, susceptiblity to","termid":"MONDO:0020836"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"autism, susceptibility to, 17","secondary_identifiers":["UMLS:C3150693","MEDGEN:462043","OMIM:613436"],"synonyms":[{"name":"AUTS17","type":"related"},{"name":"autism susceptibility 17","type":"exact"},{"name":"autism, susceptibility to, 17","type":"exact"},{"name":"autism, susceptibility to, type 17","type":"exact"},{"name":"susceptibility to autism 17","type":"related"}],"termid":"MONDO:0013265","xrefs":{"Monarch":{"xref_id":"0013265"}}}


id: PBO:0076220
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"SPT3 homolog, SAGA and STAGA complex component","termid":"PBO:0076220"}


id: PBO:0053233
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"luteinizing hormone subunit beta","termid":"PBO:0053233"}


id: GO:1902886
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. Any process that stops, prevents or reduces the frequency, rate or extent of proteasome-activating ATPase activity.","definition_xrefs":["GO_REF:0000059","GOC:TermGenie","PMID:23995839","GOC:di"],"gene_count":0,"genotype_count":0,"name":"obsolete negative regulation of proteasome-activating ATPase activity (obsolete GO:1902886)","synonyms":[{"name":"down regulation of ATPase involved in positive regulation of proteasomal protein catabolic process","type":"exact"},{"name":"down regulation of proteasomal ATPase activity","type":"exact"},{"name":"down regulation of proteasome channel gating activity","type":"narrow"},{"name":"down regulation of proteasome channel opening activity","type":"narrow"},{"name":"down regulation of proteasome-activating ATPase activity","type":"exact"},{"name":"down-regulation of ATPase involved in positive regulation of proteasomal protein catabolic process","type":"exact"},{"name":"down-regulation of proteasomal ATPase activity","type":"exact"},{"name":"down-regulation of proteasome channel gating activity","type":"narrow"},{"name":"down-regulation of proteasome channel opening activity","type":"narrow"},{"name":"down-regulation of proteasome-activating ATPase activity","type":"exact"},{"name":"downregulation of ATPase involved in positive regulation of proteasomal protein catabolic process","type":"exact"},{"name":"downregulation of proteasomal ATPase activity","type":"exact"},{"name":"downregulation of proteasome channel gating activity","type":"narrow"},{"name":"downregulation of proteasome channel opening activity","type":"narrow"},{"name":"downregulation of proteasome-activating ATPase activity","type":"exact"},{"name":"inhibition of ATPase involved in positive regulation of proteasomal protein catabolic process","type":"narrow"},{"name":"inhibition of proteasomal ATPase activity","type":"narrow"},{"name":"inhibition of proteasome channel gating activity","type":"narrow"},{"name":"inhibition of proteasome channel opening activity","type":"narrow"},{"name":"inhibition of proteasome-activating ATPase activity","type":"narrow"},{"name":"negative regulation of ATPase involved in positive regulation of proteasomal protein catabolic process","type":"exact"},{"name":"negative regulation of proteasomal ATPase activity","type":"exact"},{"name":"negative regulation of proteasome channel gating activity","type":"narrow"},{"name":"negative regulation of proteasome channel opening activity","type":"narrow"}],"termid":"GO:1902886"}


id: FYPO:0004744
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cellular process phenotype observed in the vegetative growth phase of the life cycle in which heterochromatin maintenance is normal (i.e. indistinguishable from wild type) in the context of chromatin silencing at centromere outer repeat regions.","definition_xrefs":["GO:0070829","PMID:24240238","PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"normal cellular process","termid":"FYPO:0000627"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0000257"}],"interesting_parent_ids":["FYPO:0000257","FYPO:0000002"],"is_obsolete":false,"name":"normal heterochromatin maintenance involved in chromatin silencing at centromere outer repeat","synonyms":[{"name":"normal heterochromatin maintenance involved in chromatin silencing at centromere otr","type":"exact"},{"name":"normal heterochromatin maintenance involved in chromatin silencing at centromere outer repeat during mitotic cell cycle","type":"related"},{"name":"normal heterochromatin maintenance involved in chromatin silencing at centromere outer repeat during vegetative growth","type":"exact"},{"name":"normal heterochromatin maintenance involved in chromatin silencing at centromere outer repeat region","type":"exact"},{"name":"normal heterochromatin maintenance involved in chromatin silencing at pericentric region","type":"related"},{"name":"normal heterochromatin maintenance involved in chromatin silencing at pericentromeric region","type":"related"}],"termid":"FYPO:0004744"}


id: MOD:00417
data:
  {"annotation_feature_type":"gene","cv_name":"PSI-MOD","definition":"A protein modification that effectively converts an L-cysteine residue to S-carboxamidoethyl-L-cysteine.","definition_xrefs":["PubMed:1481983","DeltaMass:72","Unimod:24#C","OMSSA:5"],"direct_ancestors":[{"relation_name":"is_a","term_name":"modified L-cysteine residue","termid":"MOD:00905"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MOD:00905"}],"interesting_parent_ids":["MOD:00905"],"is_obsolete":false,"name":"S-carboxamidoethyl-L-cysteine","synonyms":[{"name":"Acrylamide adduct","type":"related"},{"name":"PAM-Cys","type":"exact"},{"name":"Propionamide","type":"related"},{"name":"Propionamide or Acrylamide adduct","type":"exact"},{"name":"S-(3-amino-3-oxopropyl)cysteine","type":"exact"},{"name":"S-carbamoylethyl-L-cysteine","type":"exact"},{"name":"S-propanamide-L-cysteine","type":"exact"},{"name":"propionamidec","type":"exact"}],"termid":"MOD:00417"}


id: MOD:01733
data:
  {"annotation_feature_type":"gene","cv_name":"PSI-MOD","definition":"A protein modification that effectively replaces an O3-hydrogen atom of a serine residue with the Proteome Sciences TMT6plex-127 reporter+balance group.","definition_xrefs":["PubMed:18688235"],"direct_ancestors":[{"relation_name":"is_a","term_name":"TMT6plex reporter+balance reagent O-acylated residue","termid":"MOD:01719"},{"relation_name":"is_a","term_name":"TMT6plex-127 reporter+balance reagent acylated residue","termid":"MOD:01728"},{"relation_name":"is_a","term_name":"O3-acylated L-serine","termid":"MOD:02003"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"TMT6plex-127 reporter+balance reagent O3-acylated serine","synonyms":[{"name":"3-[(2,6-dimethylpiperidin-1-yl)acetyl]amino)propanoyl","type":"exact"},{"name":"Sixplex Tandem Mass Tag(TM)","type":"related"},{"name":"TMT6plex","type":"related"}],"termid":"MOD:01733"}


id: MONDO:0022733
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":"choreoacanthocytosis amyotrophic","termid":"MONDO:0022733","xrefs":{"Monarch":{"xref_id":"0022733"}}}


id: GO:0021670
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process whose specific outcome is the progression of the lateral ventricles over time, from the formation to the mature structure. The two lateral ventricles are a cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube. They are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle.","definition_xrefs":["ISBN:0838580343","GOC:cls","GOC:dgh","GO_REF:0000021","GOC:jid","GOC:dph"],"direct_ancestors":[{"relation_name":"is_a","term_name":"anatomical structure development","termid":"GO:0048856"},{"relation_name":"part_of","term_name":"telencephalon development","termid":"GO:0021537"},{"relation_name":"part_of","term_name":"ventricular system development","termid":"GO:0021591"}],"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":"lateral ventricle development","termid":"GO:0021670"}


id: GO:0043905
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the hydrolysis of misacylated Ser-tRNA(Thr).","definition_xrefs":["GOC:jl","PMID:15240874"],"direct_ancestors":[{"relation_name":"is_a","term_name":"carboxylic ester hydrolase activity","termid":"GO:0052689"},{"relation_name":"is_a","term_name":"catalytic activity, acting on a tRNA","termid":"GO:0140101"}],"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:0016788"},{"rel_name":"is_a","termid":"GO:0016787"},{"rel_name":"is_a","termid":"GO:0140101"},{"rel_name":"is_a","termid":"GO:0140098"}],"interesting_parent_ids":["GO:0003824","GO:0016788","GO:0016787","GO:0140101","GO:0003674","GO:0140098"],"is_obsolete":false,"name":"L-seryl-tRNA(Thr) hydrolase activity","synonyms":[{"name":"Ser-tRNA(Thr) hydrolase activity","type":"exact"},{"name":"Ser-tRNAThr hydrolase activity","type":"exact"}],"termid":"GO:0043905"}


id: MONDO:0024234
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":"Seckel like syndrome majoor-krakauer type","synonyms":[{"name":"Bird-headed dwarfism microcephaly micrognathia","type":"related"}],"termid":"MONDO:0024234","xrefs":{"Monarch":{"xref_id":"0024234"}}}


id: MONDO:0004491
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"An aggressive malignant tumor arising from trophoblastic cells in the uterus during pregnancy. Approximately half of the cases develop from a complete hydatidiform mole. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected.","definition_xrefs":["NCIT:C27246"],"direct_ancestors":[{"relation_name":"is_a","term_name":"malignant germ cell tumor of corpus uteri","termid":"MONDO:0016273"},{"relation_name":"is_a","term_name":"gestational choriocarcinoma","termid":"MONDO:0020550"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0004992"}],"interesting_parent_ids":["MONDO:0004992"],"is_obsolete":false,"name":"uterine corpus choriocarcinoma","secondary_identifiers":["UMLS:C1336904","MEDGEN:234466","DOID:8188","DOID:8187","ONCOTREE:UCCA"],"synonyms":[{"name":"body of uterus choriocarcinoma (disease)","type":"exact"},{"name":"body of uterus gestational choriocarcinoma","type":"exact"},{"name":"choriocarcinoma","type":"related"},{"name":"gestational choriocarcinoma of body of uterus","type":"exact"},{"name":"gestational uterine corpus choriocarcinoma","type":"exact"},{"name":"uterine corpus gestational choriocarcinoma","type":"exact"}],"termid":"MONDO:0004491","xrefs":{"Monarch":{"xref_id":"0004491"}}}


id: GO:0023024
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Binding to a class I major histocompatibility complex.","definition_xrefs":["GOC:mtg_signal","GOC:vw"],"direct_ancestors":[{"relation_name":"is_a","term_name":"MHC protein complex binding","termid":"GO:0023023"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0005488"}],"interesting_parent_ids":["GO:0005488","GO:0003674"],"is_obsolete":false,"name":"MHC class I protein complex binding","termid":"GO:0023024"}


id: GO:0060269
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The cell migration process in which a follicle cell migrates as part of an epithelial sheet between the nurse cells and the oocyte. At the end of migration, they cover the anterior of the oocyte.","definition_xrefs":["GOC:dph"],"direct_ancestors":[{"relation_name":"is_a","term_name":"follicle cell of egg chamber migration","termid":"GO:0007297"}],"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":"centripetally migrating follicle cell migration","termid":"GO:0060269"}


id: PBO:0091274
data:
  {"annotation_feature_type":"gene","cv_name":"warning","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"I:g.682994delC","termid":"PBO:0091274"}


id: PBO:0031757
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_centromere","termid":"PBO:0031757"}


id: GO:0075334
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. Any process in which the symbiont organism modulates the frequency, rate or extent of its adenylate cyclase-mediated signal transduction as a result of detecting molecules of its host organism. The host is defined as the larger of the organisms involved in a symbiotic interaction.","definition_xrefs":["GOC:pamgo_curators"],"gene_count":0,"genotype_count":0,"name":"obsolete modulation of symbiont adenylate cyclase-mediated signal transduction in response to host (obsolete GO:0075334)","termid":"GO:0075334"}


id: PBO:0046413
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"epithelial mitogen","termid":"PBO:0046413"}


id: PBO:0071243
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein L23a pseudogene 84","termid":"PBO:0071243"}


id: PBO:0053630
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 676","termid":"PBO:0053630"}


id: PBO:0062184
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"olfactory receptor family 4 subfamily N member 4","termid":"PBO:0062184"}


id: GO:0008984
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: protein L-glutamate O(5)-methyl ester + H2O = protein L-glutamate + methanol.","definition_xrefs":["EC:3.1.1.61","RESID:AA0072"],"direct_ancestors":[{"relation_name":"is_a","term_name":"protein methylesterase activity","termid":"GO:0051723"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0016788"},{"rel_name":"is_a","termid":"GO:0140096"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0016787"}],"interesting_parent_ids":["GO:0003824","GO:0003674","GO:0140096","GO:0016788","GO:0016787"],"is_obsolete":false,"name":"protein-glutamate methylesterase activity","secondary_identifiers":["MetaCyc:MCPMETEST-RXN","RHEA:23236"],"synonyms":[{"name":"CheB methylesterase activity","type":"narrow"},{"name":"chemotaxis-specific methylesterase activity","type":"narrow"},{"name":"methyl-accepting chemotaxis protein methyl-esterase activity","type":"narrow"},{"name":"methylesterase CheB activity","type":"narrow"},{"name":"protein-L-glutamate-5-O-methyl-ester acylhydrolase activity","type":"related"},{"name":"protein-L-glutamate-O5-methyl-ester acylhydrolase activity","type":"related"}],"termid":"GO:0008984"}


id: PBO:0084022
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Glycosylphosphatidylinositol (GPI)-anchored cell wall endoglucanase; localizes in birth scars; required for proper cell separation after cytokinesis; expression is activated by Swi5p and tightly regulated in a cell cycle-dependent manner","termid":"PBO:0084022"}


id: PBO:0040716
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"BAF chromatin remodeling complex subunit BCL7B","termid":"PBO:0040716"}


id: MONDO:0032897
data:
  {"annotated_genes":["SJAG_00342"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[87013],"is_not":false,"summary":null,"term":"MONDO:0032897"}]},"cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"hereditary disease","termid":"MONDO:0003847"}],"gene_count":1,"genes_by_uniquename":{"SJAG_00342":null},"genotype_count":0,"is_obsolete":false,"name":"intellectual developmental disorder with hypotonia and behavioral abnormalities","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["MEDGEN:1684709","OMIM:618748","UMLS:C5231489"],"synonyms":[{"name":"IDDHBA","type":"related"},{"name":"INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES","type":"related"}],"termid":"MONDO:0032897","terms_by_termid":{"MONDO:0032897":null},"xrefs":{"Monarch":{"xref_id":"0032897"}}}


id: MONDO:0002304
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulatednormally and affected individuals have an increased risk of forming a blood clot called a thrombosis. People at risk to haveprotein S deficiency are those with an individual or family history of multiple blood clots in the veins. Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot.","direct_ancestors":[{"relation_name":"is_a","term_name":"thrombophilia","termid":"MONDO:0002305"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005570"}],"interesting_parent_ids":["MONDO:0005570"],"is_obsolete":false,"name":"protein S deficiency","secondary_identifiers":["GARD:4524","ICD9:289.81","MEDGEN:69229","NANDO:1201081","MESH:D018455","DOID:2451","HGNC:9456","NANDO:2100198","NANDO:2200690","NCIT:C99026","SCTID:1563006","UMLS:C0242666"],"synonyms":[{"name":"Protein S deficiency","type":"exact"},{"name":"Protein S deficiency disease","type":"exact"}],"termid":"MONDO:0002304","xrefs":{"Monarch":{"xref_id":"0002304"}}}


id: PBO:0083440
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Dubious open reading frame; unlikely to encode a functional protein, based on available experimental and comparative sequence data; partially overlaps the uncharacterized ORF YOR378W","termid":"PBO:0083440"}


id: MONDO:0009393
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction.","definition_xrefs":["Orphanet:415"],"direct_ancestors":[{"relation_name":"is_a","term_name":"syndromic disease","termid":"MONDO:0002254"},{"relation_name":"is_a","term_name":"urea cycle disorder or inherited hyperammonemia","termid":"MONDO:0800153"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005066"},{"rel_name":"is_a","termid":"MONDO:0004736"}],"interesting_parent_ids":["MONDO:0005066","MONDO:0004736"],"is_obsolete":false,"name":"ornithine translocase deficiency","secondary_identifiers":["NCIT:C129029","NANDO:2200485","SCTID:30287008","GARD:2830","DOID:0050720","UMLS:C0268540","MEDGEN:82815","MESH:C538380","OMIM:238970"],"synonyms":[{"name":"HHH","type":"related"},{"name":"HHH syndrome","type":"exact"},{"name":"HHHS","type":"related"},{"name":"Hhh syndrome","type":"related"},{"name":"ORNT1 deficiency","type":"exact"},{"name":"hyperornithinemia-hyperammonemia-homocitrullinemia syndrome","type":"exact"},{"name":"hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome","type":"exact"},{"name":"hyperornithinemia-hyperammonemia-homocitrullinuria syndrome","type":"related"},{"name":"ornithine carrier deficiency","type":"exact"},{"name":"ornithine translocase deficiency","type":"exact"},{"name":"ornithine translocase deficiency syndrome","type":"related"},{"name":"triple H syndrome","type":"exact"}],"termid":"MONDO:0009393","xrefs":{"Monarch":{"xref_id":"0009393"}}}


id: PBO:0063834
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"phytanoyl-CoA dioxygenase domain containing 1","termid":"PBO:0063834"}


id: PBO:0070643
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein L7 pseudogene 14","termid":"PBO:0070643"}


id: PBO:0038767
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"actin related protein 5","termid":"PBO:0038767"}


id: GO:0044385
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"OBSOLETE. Penetrating at least one phospholipid bilayer of a membrane. May also refer to the state of being buried in the bilayer with no exposure outside the bilayer. When used to describe a protein, indicates that all or part of the peptide sequence is embedded in the membrane. Occurring in a host cell.","definition_xrefs":["GOC:jl"],"gene_count":0,"genotype_count":0,"name":"obsolete integral to membrane of host cell (obsolete GO:0044385)","termid":"GO:0044385"}


id: PBO:0054569
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 1971","termid":"PBO:0054569"}


id: GO:0009084
data:
  {"annotated_genes":["SJAG_00695","SJAG_04054","SJAG_00495","SJAG_03457","SJAG_00636","SJAG_01461","SJAG_04145","SJAG_01019","SJAG_04577","SJAG_00660","SJAG_00392","SJAG_00412","SJAG_00359","SJAG_00120","SJAG_00635","SJAG_01592","SJAG_03266"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[71724],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0006542"},{"annotations":[102964,110838,98489,111456,112286,118788,70610,78812,106883],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0042450"},{"annotations":[111611,118128,59860],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0097054"},{"annotations":[64707,78248,67573,91210],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0055129"}]},"cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the formation of amino acids of the glutamine family, comprising arginine, glutamate, glutamine and proline.","definition_xrefs":["GOC:ai"],"direct_ancestors":[{"relation_name":"is_a","term_name":"glutamine family amino acid metabolic process","termid":"GO:0009064"},{"relation_name":"is_a","term_name":"L-amino acid biosynthetic process","termid":"GO:0170034"},{"relation_name":"is_a","term_name":"proteinogenic amino acid biosynthetic process","termid":"GO:0170038"}],"gene_count":17,"genes_by_uniquename":{"SJAG_00120":null,"SJAG_00359":null,"SJAG_00392":null,"SJAG_00412":null,"SJAG_00495":null,"SJAG_00635":null,"SJAG_00636":null,"SJAG_00660":null,"SJAG_00695":null,"SJAG_01019":null,"SJAG_01461":null,"SJAG_01592":null,"SJAG_03266":null,"SJAG_03457":null,"SJAG_04054":null,"SJAG_04145":null,"SJAG_04577":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0044281"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0006520"}],"interesting_parent_ids":["GO:0006520","GO:0008150","GO:0044281"],"is_obsolete":false,"name":"glutamine family amino acid biosynthetic process","references_by_uniquename":{"GO_REF:0000033":null,"GO_REF:0000041":null,"GO_REF:0000107":null},"synonyms":[{"name":"glutamine family amino acid anabolism","type":"exact"},{"name":"glutamine family amino acid biosynthesis","type":"exact"},{"name":"glutamine family amino acid formation","type":"exact"},{"name":"glutamine family amino acid synthesis","type":"exact"}],"termid":"GO:0009084","terms_by_termid":{"GO:0006542":null,"GO:0042450":null,"GO:0055129":null,"GO:0097054":null}}


id: GO:1900394
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of kojic acid biosynthetic process.","definition_xrefs":["GOC:TermGenie","GOC:di"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of ketone biosynthetic process","termid":"GO:0010566"},{"relation_name":"is_a","term_name":"regulation of alcohol biosynthetic process","termid":"GO:1902930"},{"relation_name":"regulates","term_name":"kojic acid biosynthetic process","termid":"GO:2001317"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"regulates","termid":"GO:0044281"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0044281","GO:0008150"],"is_obsolete":false,"name":"regulation of kojic acid biosynthetic process","synonyms":[{"name":"regulation of 5-hydroxy-2-(hydroxymethyl)-4H-pyran-4-one anabolism","type":"exact"},{"name":"regulation of 5-hydroxy-2-(hydroxymethyl)-4H-pyran-4-one biosynthesis","type":"exact"},{"name":"regulation of 5-hydroxy-2-(hydroxymethyl)-4H-pyran-4-one biosynthetic process","type":"exact"},{"name":"regulation of 5-hydroxy-2-(hydroxymethyl)-4H-pyran-4-one formation","type":"exact"},{"name":"regulation of 5-hydroxy-2-(hydroxymethyl)-4H-pyran-4-one synthesis","type":"exact"},{"name":"regulation of C6H6O4 anabolism","type":"related"},{"name":"regulation of C6H6O4 biosynthesis","type":"related"},{"name":"regulation of C6H6O4 biosynthetic process","type":"related"},{"name":"regulation of C6H6O4 formation","type":"related"},{"name":"regulation of C6H6O4 synthesis","type":"related"},{"name":"regulation of kojic acid anabolism","type":"exact"},{"name":"regulation of kojic acid biosynthesis","type":"exact"},{"name":"regulation of kojic acid formation","type":"exact"},{"name":"regulation of kojic acid synthesis","type":"exact"}],"termid":"GO:1900394"}


id: PBO:0066292
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA binding motif protein Y-linked family 2 member T, pseudogene","termid":"PBO:0066292"}


id: PBO:0061741
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"neurexophilin and PC-esterase domain family member 4","termid":"PBO:0061741"}


id: MONDO:0006323
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma.","definition_xrefs":["EFO:1000401"],"direct_ancestors":[{"relation_name":"is_a","term_name":"neoplasm","termid":"MONDO:0005070"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"non-seminomatous lesion","secondary_identifiers":["UMLS:C1335059","MEDGEN:233785"],"termid":"MONDO:0006323","xrefs":{"Monarch":{"xref_id":"0006323"}}}


id: GO:0097185
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 azide stimulus.","definition_xrefs":["PMID:16846222","GOC:yaf"],"direct_ancestors":[{"relation_name":"is_a","term_name":"response to azide","termid":"GO:0097184"},{"relation_name":"is_a","term_name":"cellular response to nitrogen compound","termid":"GO:1901699"}],"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 azide","termid":"GO:0097185"}


id: PBO:0068707
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U4 small nuclear 88, pseudogene","termid":"PBO:0068707"}


id: FYPO:0005883
data:
  {"alleles_by_uniquename":{"SJAG_03360:allele-1":{"allele_type":"deletion","description":"deletion","gene_uniquename":"SJAG_03360","name":"shc1delta","uniquename":"SJAG_03360:allele-1"}},"annotation_feature_type":"genotype","cv_annotations":{"single_locus_phenotype":[{"annotations":[119822],"is_not":false,"summary":null,"term":"FYPO:0005883"}]},"cv_name":"fission_yeast_phenotype","definition":"A vegetative cell population growth phenotype in which a cell population does not grow under anaerobic conditions.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abolished vegetative cell population growth","termid":"FYPO:0001575"}],"gene_count":1,"genes_by_uniquename":{"SJAG_03360":null},"genotype_count":1,"genotypes_by_uniquename":{"shc1delta":{"display_name":"shc1delta","display_uniquename":"shc1delta","loci":[{"expressed_alleles":[{"allele_uniquename":"SJAG_03360:allele-1","expression":"Null"}]}]}},"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0002058"},{"rel_name":"is_a","termid":"FYPO:0000139"},{"rel_name":"is_a","termid":"FYPO:0000003"},{"rel_name":"is_a","termid":"FYPO:0002057"},{"rel_name":"is_a","termid":"FYPO:0002060"},{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0001985"}],"interesting_parent_ids":["FYPO:0002058","FYPO:0000003","FYPO:0002060","FYPO:0001985","FYPO:0000139","FYPO:0002057","FYPO:0005447"],"is_obsolete":false,"name":"abolished anaerobic cell population growth","references_by_uniquename":{"PMID:40195311":null},"single_locus_annotated_genes":["SJAG_03360"],"single_locus_genotype_uniquenames":["shc1delta"],"synonyms":[{"name":"abolished anaerobic vegetative cell population growth","type":"exact"},{"name":"anaerobic cell population growth abolished","type":"exact"}],"termid":"FYPO:0005883","terms_by_termid":{"FYECO:0000137":null,"FYPO:0005883":null}}


id: PBO:0001233
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"serine/threonine protein kinase Ppk1 (predicted)","termid":"PBO:0001233"}


id: GO:0042630
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that results in a change in the behavior of an organism as a result of deprivation of water.","definition_xrefs":["GOC:jl"],"direct_ancestors":[{"relation_name":"is_a","term_name":"behavior","termid":"GO:0007610"},{"relation_name":"part_of","term_name":"response to water deprivation","termid":"GO:0009414"}],"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":"behavioral response to water deprivation","synonyms":[{"name":"behavioral response to drought","type":"exact"},{"name":"behavioral response to thirst","type":"exact"},{"name":"behavioural response to water deprivation","type":"exact"}],"termid":"GO:0042630"}


id: GO:0005338
data:
  {"annotated_genes":["SJAG_01960","SJAG_01177","SJAG_04162","SJAG_04697","SJAG_00339","SJAG_00434"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[93670],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0005457"},{"annotations":[72168],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0005458"},{"annotations":[88690,75350,76342],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0005459"},{"annotations":[76343],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0005460"},{"annotations":[77943],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0005462"},{"annotations":[77944],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0005464"}]},"cv_name":"molecular_function","definition":"Enables the transfer of a nucleotide-sugar from one side of a membrane to the other. A nucleotide-sugar is any nucleotide in which the distal phosphoric residue of a nucleoside 5'-diphosphate is in glycosidic linkage with a monosaccharide or monosaccharide derivative.","definition_xrefs":["GOC:ai","ISBN:0815340729","GOC:mtg_transport","PMID:15034926"],"direct_ancestors":[{"relation_name":"is_a","term_name":"organophosphate ester transmembrane transporter activity","termid":"GO:0015605"},{"relation_name":"is_a","term_name":"nucleobase-containing compound transmembrane transporter activity","termid":"GO:0015932"},{"relation_name":"is_a","term_name":"carbohydrate derivative transmembrane transporter activity","termid":"GO:1901505"}],"gene_count":6,"genes_by_uniquename":{"SJAG_00339":null,"SJAG_00434":null,"SJAG_01177":null,"SJAG_01960":null,"SJAG_04162":null,"SJAG_04697":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0005215"},{"rel_name":"is_a","termid":"GO:0022857"}],"interesting_parent_ids":["GO:0003674","GO:0005215","GO:0022857"],"is_obsolete":false,"name":"nucleotide-sugar transmembrane transporter activity","references_by_uniquename":{"GO_REF:0000033":null,"GO_REF:0000107":null},"secondary_identifiers":["Reactome:R-HSA-744231","Reactome:R-HSA-744230","GO:0005339","Reactome:R-HSA-9792608"],"termid":"GO:0005338","terms_by_termid":{"GO:0005457":null,"GO:0005458":null,"GO:0005459":null,"GO:0005460":null,"GO:0005462":null,"GO:0005464":null}}


id: MONDO:0024278
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Inflammation of the rectum and colon.","definition_xrefs":["NCIT:C77952"],"direct_ancestors":[{"relation_name":"is_a","term_name":"colitis","termid":"MONDO:0005292"},{"relation_name":"is_a","term_name":"proctitis","termid":"MONDO:0005538"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005046"},{"rel_name":"is_a","termid":"MONDO:0004335"}],"interesting_parent_ids":["MONDO:0005046","MONDO:0004335"],"is_obsolete":false,"name":"proctocolitis","secondary_identifiers":["SCTID:418130002","MESH:D011350","UMLS:C0033247","MEDGEN:18651"],"synonyms":[{"name":"colorectum inflammation","type":"exact"},{"name":"inflammation of colorectum","type":"exact"},{"name":"proctocolitis","type":"exact"}],"termid":"MONDO:0024278","xrefs":{"Monarch":{"xref_id":"0024278"}}}


id: GO:0070344
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of fat cell proliferation.","definition_xrefs":["GOC:mah","GOC:sl"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of cell population proliferation","termid":"GO:0042127"},{"relation_name":"regulates","term_name":"fat cell proliferation","termid":"GO:0070341"}],"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 fat cell proliferation","synonyms":[{"name":"regulation of adipocyte proliferation","type":"exact"},{"name":"regulation of adipose cell proliferation","type":"exact"}],"termid":"GO:0070344"}


id: PATO:0000923
data:
  {"annotation_feature_type":"gene","cv_name":"quality","gene_count":0,"genotype_count":0,"name":"OBSOLETE PATO:0000923 relative width (obsolete PATO:0000923)","termid":"PATO:0000923"}


id: PBO:0088477
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RagA/B GTPase Gtr1","termid":"PBO:0088477"}


id: PBO:0058601
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 6733","termid":"PBO:0058601"}


id: PBO:0026657
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-heterochromatin_assembly_beyond_boundary_element_IRC1L","termid":"PBO:0026657"}


id: PBO:0051823
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"interferon regulatory factor 2","termid":"PBO:0051823"}


id: PBO:0026742
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-inviable_elongated_vegetative_cell_during_cellular_response_to_UV","termid":"PBO:0026742"}


id: GO:0018685
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: octane + reduced rubredoxin + O2 = 1-octanol + oxidized rubredoxin + H2O.","definition_xrefs":["RHEA:19341"],"direct_ancestors":[{"relation_name":"is_a","term_name":"oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced iron-sulfur protein as one donor, and incorporation of one atom of oxygen","termid":"GO:0016713"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0016491"}],"interesting_parent_ids":["GO:0003674","GO:0003824","GO:0016491"],"is_obsolete":false,"name":"alkane 1-monooxygenase activity","secondary_identifiers":["UM-BBD_enzymeID:r0021","MetaCyc:ALKANE-1-MONOOXYGENASE-RXN","GO:0008393"],"synonyms":[{"name":"1-hydroxylase activity","type":"related"},{"name":"alkane 1-hydroxylase activity","type":"exact"},{"name":"alkane hydroxylase activity","type":"related"},{"name":"alkane monooxygenase activity","type":"related"},{"name":"alkane,reduced-rubredoxin:oxygen 1-oxidoreductase activity","type":"related"}],"termid":"GO:0018685"}


id: PBO:0079368
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"tubulin alpha pseudogene 2","termid":"PBO:0079368"}


id: MONDO:0014199
data:
  {"annotated_genes":["SJAG_02233"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[86169],"is_not":false,"summary":null,"term":"MONDO:0014199"}]},"cv_name":"mondo","definition":"Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GNAO1 gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"developmental and epileptic encephalopathy","termid":"MONDO:0100062"}],"gene_count":1,"genes_by_uniquename":{"SJAG_02233":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005027"},{"rel_name":"is_a","termid":"MONDO:0700092"}],"interesting_parent_ids":["MONDO:0005027","MONDO:0700092"],"is_obsolete":false,"name":"developmental and epileptic encephalopathy, 17","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["MEDGEN:815936","GARD:13378","DOID:0080450","UMLS:C3809606","OMIM:615473"],"synonyms":[{"name":"DEE17","type":"exact"},{"name":"EIEE17","type":"exact"},{"name":"GNAO1 early infantile epileptic encephalopathy","type":"exact"},{"name":"GNAO1 encephalopathy","type":"related"},{"name":"developmental and epileptic encephalopathy 17","type":"exact"},{"name":"early infantile epileptic encephalopathy caused by mutation in GNAO1","type":"exact"},{"name":"early infantile epileptic encephalopathy-17","type":"exact"},{"name":"epileptic encephalopathy, early infantile, 17","type":"exact"},{"name":"epileptic encephalopathy, early infantile, type 17","type":"exact"}],"termid":"MONDO:0014199","terms_by_termid":{"MONDO:0014199":null},"xrefs":{"Monarch":{"xref_id":"0014199"}}}


id: RO:0002023
data:
  {"annotation_feature_type":"gene","cv_name":"relationship","definition":"Process(P2) is directly negatively regulated by process(P1) iff: P1 negatively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2).  For example, if protein A has protein binding activity(P1) that targets protein B and this binding  negatively regulates the kinase activity (P2) of protein B then P2 directly negatively regulated by P1.","definition_xrefs":["GOC:dos"],"direct_ancestors":[{"relation_name":"is_a","term_name":"directly_regulated_by","termid":"RO:0002022"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"directly_negatively_regulated_by","termid":"RO:0002023"}


id: PATO:0001302
data:
  {"annotation_feature_type":"gene","cv_name":"quality","definition":"A color consisting of red and orange hue with a slight amount of gray.","definition_xrefs":["PATOC:GVG"],"direct_ancestors":[{"relation_name":"is_a","term_name":"color","termid":"PATO:0000014"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"vermilion","termid":"PATO:0001302"}


id: MONDO:0024965
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"myopathy, non-human animal","termid":"MONDO:1010195"},{"relation_name":"is_a","term_name":"hereditary neurological disease, non-human animal","termid":"MONDO:1012972"},{"relation_name":"is_a","term_name":"neuromuscular disease, non-human animal","termid":"MONDO:1012983"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"muscular dystrophy, non-human animal","secondary_identifiers":["MESH:D009137"],"synonyms":[{"name":"animal muscular dystrophies","type":"related"},{"name":"animal muscular dystrophy","type":"related"},{"name":"dystrophies, animal muscular","type":"related"},{"name":"dystrophy, animal muscular","type":"related"},{"name":"muscular dystrophies, animal","type":"related"}],"termid":"MONDO:0024965","xrefs":{"Monarch":{"xref_id":"0024965"}}}


id: GO:0050559
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: all-trans-geranylgeranyl diphosphate = (+)-copalyl diphosphate.","definition_xrefs":["EC:5.5.1.12","RHEA:24316"],"direct_ancestors":[{"relation_name":"is_a","term_name":"intramolecular lyase activity","termid":"GO:0016872"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0016853"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0003824","GO:0016853","GO:0003674"],"is_obsolete":false,"name":"copalyl diphosphate synthase activity","secondary_identifiers":["MetaCyc:RXN-4861","KEGG_REACTION:R06298"],"synonyms":[{"name":"(+)-copalyl-diphosphate lyase (decyclizing)","type":"related"},{"name":"diterpene cyclase activity","type":"broad"}],"termid":"GO:0050559"}


id: PBO:0091367
data:
  {"annotation_feature_type":"gene","cv_name":"misc","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"swi5delta rad57delta double mutant produced each recombination class (gene conversion, crossover and long tract gene conversion) at frequencies similar to that of the rad51delta single mutant","termid":"PBO:0091367"}


id: MONDO:0000447
data:
  {"annotated_genes":["SJAG_03535","SJAG_01950","SJAG_00175"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[86459],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0008265"},{"annotations":[86398],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0014860"},{"annotations":[85439],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0054743"}]},"cv_name":"mondo","definition":"An autosomal dominant inherited condition characterized by many cysts of various sizes scattered throughout the liver.","definition_xrefs":["GARD:0009457"],"direct_ancestors":[{"relation_name":"is_a","term_name":"autosomal dominant disease","termid":"MONDO:0000426"},{"relation_name":"is_a","term_name":"liver disorder","termid":"MONDO:0005154"}],"gene_count":3,"genes_by_uniquename":{"SJAG_00175":null,"SJAG_01950":null,"SJAG_03535":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0004335"},{"rel_name":"is_a","termid":"MONDO:0000426"},{"rel_name":"is_a","termid":"MONDO:0002515"}],"interesting_parent_ids":["MONDO:0004335","MONDO:0002515","MONDO:0000426"],"is_obsolete":false,"name":"autosomal dominant polycystic liver disease","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["MedDRA:10048834","OMIMPS:174050","ICD9:751.62","MedDRA:10010427","MedDRA:10083939","ICD10CM:Q44.6","DOID:0050770","SCTID:72925005","GARD:9457","UMLS:C0158683","HP:0006557","NCIT:C82833","Orphanet:2924","MEDGEN:56388","icd11.foundation:1361740083","icd11.foundation:423904268"],"synonyms":[{"name":"AD polycystic liver disease","type":"exact"},{"name":"ADPLD","type":"exact"},{"name":"PCLD","type":"exact"},{"name":"congenital cystic liver disease","type":"related"},{"name":"congenital hepatic cyst","type":"related"},{"name":"fibrocystic liver disease","type":"related"},{"name":"isolated congenital polycystic liver disease","type":"exact"},{"name":"isolated polycystic liver disease","type":"exact"},{"name":"polycystic liver disease","type":"exact"}],"termid":"MONDO:0000447","terms_by_termid":{"MONDO:0008265":null,"MONDO:0014860":null,"MONDO:0054743":null},"xrefs":{"Monarch":{"xref_id":"0000447"}}}


id: PBO:0072085
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein S12 pseudogene 15","termid":"PBO:0072085"}


id: GO:0050579
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: 10-deoxysarpagine + NADP+ = H+ + NADPH + vellosimine.","definition_xrefs":["RHEA:20029","EC:1.1.1.273"],"direct_ancestors":[{"relation_name":"is_a","term_name":"oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor","termid":"GO:0016616"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0016491"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0016491","GO:0003674","GO:0003824"],"is_obsolete":false,"name":"vellosimine dehydrogenase activity","secondary_identifiers":["MetaCyc:1.1.1.273-RXN","KEGG_REACTION:R05827"],"synonyms":[{"name":"10-deoxysarpagine:NADP+ oxidoreductase activity","type":"related"}],"termid":"GO:0050579"}


id: MONDO:0021385
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A benign or malignant neoplasm that affects the extrahepatic bile ducts. Representative examples include adenoma and adenocarcinoma.","definition_xrefs":["NCIT:C4441"],"direct_ancestors":[{"relation_name":"is_a","term_name":"bile duct neoplasm","termid":"MONDO:0021662"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0004335"},{"rel_name":"is_a","termid":"MONDO:0002515"}],"interesting_parent_ids":["MONDO:0004335","MONDO:0002515"],"is_obsolete":false,"name":"extrahepatic bile duct neoplasm","secondary_identifiers":["SCTID:126855001","UMLS:C0345913","MEDGEN:91056"],"synonyms":[{"name":"extrahepatic bile duct neoplasm","type":"exact"},{"name":"extrahepatic bile duct neoplasm (disease)","type":"exact"},{"name":"extrahepatic bile duct tumor","type":"exact"},{"name":"extrahepatic bile duct tumour","type":"exact"},{"name":"neoplasm of extrahepatic bile duct","type":"exact"},{"name":"neoplasm of the extrahepatic bile duct","type":"exact"},{"name":"tumor of extrahepatic bile duct","type":"exact"},{"name":"tumor of the extrahepatic bile duct","type":"exact"},{"name":"tumour of extrahepatic bile duct","type":"exact"},{"name":"tumour of the extrahepatic bile duct","type":"exact"}],"termid":"MONDO:0021385","xrefs":{"Monarch":{"xref_id":"0021385"}}}


id: MONDO:0003373
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"An aggressive malignant smooth muscle neoplasm, arising from the kidney. It is characterized by a proliferation of neoplastic spindle cells.","definition_xrefs":["NCIT:C6183"],"direct_ancestors":[{"relation_name":"is_a","term_name":"kidney sarcoma","termid":"MONDO:0002930"},{"relation_name":"is_a","term_name":"leiomyosarcoma","termid":"MONDO:0005058"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005240"},{"rel_name":"is_a","termid":"MONDO:0004992"}],"interesting_parent_ids":["MONDO:0005240","MONDO:0004992"],"is_obsolete":false,"name":"kidney leiomyosarcoma","secondary_identifiers":["DOID:5287","UMLS:C1335743","MEDGEN:235545"],"synonyms":[{"name":"kidney leiomyosarcoma","type":"exact"},{"name":"leiomyosarcoma of kidney","type":"exact"},{"name":"leiomyosarcoma of the kidney","type":"exact"},{"name":"renal leiomyosarcoma","type":"exact"}],"termid":"MONDO:0003373","xrefs":{"Monarch":{"xref_id":"0003373"}}}


id: GO:0033091
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that activates or increases the frequency, rate or extent of immature T cell proliferation.","definition_xrefs":["GOC:mah","GOC:add"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of immature T cell proliferation","termid":"GO:0033083"},{"relation_name":"is_a","term_name":"positive regulation of T cell proliferation","termid":"GO:0042102"},{"relation_name":"positively_regulates","term_name":"immature T cell proliferation","termid":"GO:0033079"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"positively_regulates","termid":"GO:0007155"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"regulates","termid":"GO:0007155"}],"interesting_parent_ids":["GO:0007155","GO:0008150"],"is_obsolete":false,"name":"positive regulation of immature T cell proliferation","termid":"GO:0033091"}


id: PBO:0046910
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"family with sequence similarity 27 member E2","termid":"PBO:0046910"}


id: MONDO:0100341
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A poisoning that is caused by exposure to a fire ant bite or sting. Fire ants tend to be an aggressive insect that will sting causing very painful reactions. There are two types of fire ants which belong to the Solenopsis species.","definition_xrefs":["PMID:29261949"],"direct_ancestors":[{"relation_name":"is_a","term_name":"poisoning","termid":"MONDO:0029000"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"fire ant poisoning","synonyms":[{"name":"fire ant allergy","type":"related"},{"name":"fire ant bite","type":"related"},{"name":"fire ant sting","type":"related"}],"termid":"MONDO:0100341","xrefs":{"Monarch":{"xref_id":"0100341"}}}


id: GO:0031245
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"The component of the cell outer membrane consisting of gene products and protein complexes that are loosely bound to periplasmic surface, but not integrated into the hydrophobic region.","definition_xrefs":["GOC:mah","GOC:dos","GOC:mtg_sensu"],"direct_ancestors":[{"relation_name":"is_a","term_name":"extrinsic component of cell outer membrane","termid":"GO:0031244"},{"relation_name":"part_of","term_name":"periplasmic side of cell outer membrane","termid":"GO:0031241"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005575"}],"interesting_parent_ids":["GO:0005575"],"is_obsolete":false,"name":"extrinsic component of periplasmic side of cell outer membrane","synonyms":[{"name":"extrinsic to internal leaflet of cell outer membrane","type":"narrow"},{"name":"extrinsic to internal side of cell outer membrane","type":"exact"},{"name":"extrinsic to internal side of outer membrane","type":"exact"},{"name":"extrinsic to periplasmic side of cell outer membrane","type":"exact"}],"termid":"GO:0031245"}


id: PBO:0064094
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"PITRM1 antisense RNA 1","termid":"PBO:0064094"}


id: MONDO:0035776
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"coagulation protein disease","termid":"MONDO:0002242"}],"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":"combined deficiency of factor VII and factor X","secondary_identifiers":["UMLS:C5681529","GARD:22418","Orphanet:600691","MEDGEN:1843297"],"termid":"MONDO:0035776","xrefs":{"Monarch":{"xref_id":"0035776"}}}


id: PBO:0063162
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"paired box 7","termid":"PBO:0063162"}


id: GO:2000537
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of B cell chemotaxis.","definition_xrefs":["GOC:obol"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of lymphocyte chemotaxis","termid":"GO:1901623"},{"relation_name":"regulates","term_name":"B cell chemotaxis","termid":"GO:0035754"}],"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 B cell chemotaxis","termid":"GO:2000537"}


id: PR:O14000
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A methionyl-tRNA synthetase, mitochondrial that is encoded in the genome of Schizosaccharomyces pombe 972h-.","definition_xrefs":["OMA:SCHPO01668","PANTHER:PTHR11946:SF1","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":"methionine--tRNA ligase, mitochondrial (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAC27E2.06c","secondary_identifiers":["UniProtKB:O14000"],"synonyms":[{"name":"MtMetRS (Schizosaccharomyces pombe 972h-)","type":"exact"},{"name":"Spom972h-MARS2","type":"exact"},{"name":"mitochondrial methionyl-tRNA synthetase (Schizosaccharomyces pombe 972h-)","type":"exact"}],"termid":"PR:O14000"}


id: MONDO:0020689
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40)","definition_xrefs":["MESH:D015526"],"direct_ancestors":[{"relation_name":"is_a","term_name":"dementia","termid":"MONDO:0001627"},{"relation_name":"is_a","term_name":"post-viral disorder","termid":"MONDO:0021674"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0002039"}],"interesting_parent_ids":["MONDO:0002039"],"is_obsolete":false,"name":"AIDS dementia complex","secondary_identifiers":["SCTID:421529006","GARD:8250","MEDGEN:177","UMLS:C0001849","NCIT:C2864","ICD9:294.8","EFO:0002608"],"synonyms":[{"name":"ADC","type":"related"},{"name":"ADC - Acquired immune deficiency syndrome dementia complex","type":"related"},{"name":"AIDS - Acquired immune deficiency syndrome dementia complex","type":"related"},{"name":"AIDS Dementia","type":"related"},{"name":"AIDS Dementia Complex","type":"related"},{"name":"AIDS Encephalopathies","type":"related"},{"name":"AIDS Encephalopathy","type":"related"},{"name":"AIDS RELAT DEMENTIA COMPLEX","type":"related"},{"name":"AIDS dementia","type":"exact"},{"name":"AIDS dementia complex","type":"exact"},{"name":"AIDS related Dementia Complex","type":"related"},{"name":"AIDS related cognitive impairment","type":"related"},{"name":"AIDS with dementia (disorder)","type":"related"},{"name":"AIDS-related Dementia Complex","type":"related"},{"name":"Acquired immune deficiency syndrome dementia complex","type":"related"},{"name":"Acquired immune deficiency syndrome-related dementia","type":"related"},{"name":"Acquired-Immune Deficiency Syndrome Dementia Complex","type":"related"},{"name":"Complex, AIDS Dementia","type":"related"},{"name":"Complex, AIDS-related Dementia","type":"related"},{"name":"DEMENTIA COMPLEX ACQUIRED IMMUNE DEFIC SYNDROME","type":"related"},{"name":"DEMENTIA COMPLEX AIDS RELAT","type":"related"},{"name":"Dementia Complex, AIDS","type":"related"},{"name":"Dementia Complex, AIDS related","type":"related"},{"name":"Dementia Complex, AIDS-related","type":"related"},{"name":"Dementia Complex, Acquired Immune Deficiency Syndrome","type":"related"},{"name":"Dementia associated with AIDS","type":"related"},{"name":"Dementia associated with acquired immunodeficiency syndrome","type":"related"},{"name":"Dementia, HIV","type":"related"},{"name":"Dementias, HIV","type":"related"},{"name":"Encephalopathies, AIDS","type":"related"},{"name":"Encephalopathies, HIV","type":"related"},{"name":"Encephalopathy, AIDS","type":"related"},{"name":"Encephalopathy, HIV","type":"related"},{"name":"HIV 1 Associated Cognitive Motor Complex","type":"related"},{"name":"HIV 1 Cognitive and Motor Complex","type":"related"},{"name":"HIV ASSOC COGNITIVE MOTOR COMPLEX","type":"related"},{"name":"HIV Associated Cognitive Motor Complex","type":"related"},{"name":"HIV Dementia","type":"related"},{"name":"HIV Dementias","type":"related"},{"name":"HIV Encephalopathies","type":"related"},{"name":"HIV Encephalopathy","type":"related"},{"name":"HIV associated cognitive and motor complex","type":"related"},{"name":"HIV encephalitis","type":"related"},{"name":"HIV-1 Cognitive and Motor Complex","type":"related"},{"name":"HIV-1-Associated Cognitive Motor Complex","type":"related"},{"name":"HIV-Associated Cognitive Motor Complex","type":"related"},{"name":"HIV-associated dementia","type":"related"},{"name":"acquired immune deficiency syndrome dementia complex","type":"related"},{"name":"acquired immune deficiency syndrome-related dementia","type":"related"}],"termid":"MONDO:0020689","xrefs":{"Monarch":{"xref_id":"0020689"}}}


id: PBO:0067432
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, 7SL, cytoplasmic 553, pseudogene","termid":"PBO:0067432"}


id: GO:1901623
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of lymphocyte chemotaxis.","definition_xrefs":["GOC:TermGenie"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of leukocyte chemotaxis","termid":"GO:0002688"},{"relation_name":"is_a","term_name":"regulation of lymphocyte migration","termid":"GO:2000401"},{"relation_name":"regulates","term_name":"lymphocyte chemotaxis","termid":"GO:0048247"}],"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 lymphocyte chemotaxis","termid":"GO:1901623"}


id: GO:0098829
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  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Uptake of folic into the blood by absorption from the small intestine.","definition_xrefs":["PMID:19762432","GOC:hal","GOC:dos","GOC:BHF"],"direct_ancestors":[{"relation_name":"is_a","term_name":"intestinal absorption","termid":"GO:0050892"}],"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":"intestinal folate absorption","termid":"GO:0098829"}


id: GO:0097626
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id: GO:0106417
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id: MONDO:0009711
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id: GO:0001936
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id: PBO:0081362
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id: PBO:0001548
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id: GO:2000875
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id: PBO:0065030
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id: GO:1901071
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id: PBO:0071469
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id: PBO:0005257
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id: MONDO:0017117
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id: PBO:0031557
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id: GO:0009007
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id: MONDO:0000426
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