# terms

id: MONDO:0040503
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CTNND1 gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"blepharocheilodontic syndrome","termid":"MONDO:0007339"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005093"},{"rel_name":"is_a","termid":"MONDO:0000426"},{"rel_name":"is_a","termid":"MONDO:0005328"}],"interesting_parent_ids":["MONDO:0005093","MONDO:0005328","MONDO:0000426"],"is_obsolete":false,"name":"blepharocheilodontic syndrome 2","secondary_identifiers":["DOID:0080346","OMIM:617681","MEDGEN:1623594","GARD:16244","UMLS:C4540127"],"synonyms":[{"name":"BCDS2","type":"related"},{"name":"BLEPHAROCHEILODONTIC syndrome 2","type":"related"},{"name":"CTNND1 blepharo-cheilo-odontic syndrome","type":"exact"},{"name":"blepharo-cheilo-odontic syndrome caused by mutation in CTNND1","type":"exact"}],"termid":"MONDO:0040503","xrefs":{"Monarch":{"xref_id":"0040503"}}}


id: GO:0048508
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process whose specific outcome is the progression of the embryonic meristem over time, from its formation to the mature structure.","definition_xrefs":["GOC:jid"],"direct_ancestors":[{"relation_name":"is_a","term_name":"developmental process involved in reproduction","termid":"GO:0003006"},{"relation_name":"is_a","term_name":"meristem development","termid":"GO:0048507"},{"relation_name":"part_of","term_name":"embryo development ending in seed dormancy","termid":"GO:0009793"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"embryonic meristem development","termid":"GO:0048508"}


id: MONDO:0011013
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"autosomal dominant hypocalcemia","termid":"MONDO:0018543"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005066"},{"rel_name":"is_a","termid":"MONDO:0000426"}],"interesting_parent_ids":["MONDO:0005066","MONDO:0000426"],"is_obsolete":false,"name":"autosomal dominant hypocalcemia 1","secondary_identifiers":["UMLS:C0342345","DOID:0090107","MEDGEN:87438","OMIM:601198"],"synonyms":[{"name":"CASR autosomal dominant hypocalcemia","type":"exact"},{"name":"HYPOC1","type":"exact"},{"name":"autosomal dominant hypocalcemia caused by mutation in CASR","type":"exact"},{"name":"autosomal dominant hypocalcemia type 1","type":"exact"},{"name":"hypercalciuric hypocalcemia","type":"related"},{"name":"hypocalcemia, autosomal dominant","type":"broad"},{"name":"hypocalcemia, autosomal dominant 1","type":"related"},{"name":"hypocalcemia, autosomal dominant 1, with Bartter syndrome","type":"related"},{"name":"hypocalcemia, autosomal dominant type 1","type":"exact"},{"name":"hypocalcemia, autosomal dominant, with Bartter syndrome","type":"exact"},{"name":"hypocalcemia, familial","type":"related"}],"termid":"MONDO:0011013","xrefs":{"Monarch":{"xref_id":"0011013"}}}


id: GO:0008038
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process in which a neuronal cell in a multicellular organism interprets its surroundings.","definition_xrefs":["GOC:go_curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cell recognition","termid":"GO:0008037"},{"relation_name":"part_of","term_name":"neuron development","termid":"GO:0048666"}],"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":"neuron recognition","synonyms":[{"name":"neuronal cell recognition","type":"exact"}],"termid":"GO:0008038"}


id: GO:0140769
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: L-lysyl-[protein] + tetradecanoyl-[ACP] = H+ + holo-[ACP] + N(6)-tetradecanoyl-L-lysyl-[protein].","definition_xrefs":["RHEA:70611","PMID:32461253"],"direct_ancestors":[{"relation_name":"is_a","term_name":"peptidyl-lysine N6-myristoyltransferase activity","termid":"GO:0018030"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0016740"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0140096"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0016746"}],"interesting_parent_ids":["GO:0016740","GO:0016746","GO:0003674","GO:0003824","GO:0140096"],"is_obsolete":false,"name":"ACP-dependent peptidyl-lysine N6-myristoyltransferase activity","termid":"GO:0140769"}


id: PBO:0074854
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 42B","termid":"PBO:0074854"}


id: GO:0005343
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: organic acid(out) + Na+(out) = organic acid(in) + Na+(in).","definition_xrefs":["TC:2.A.28.1.1"],"direct_ancestors":[{"relation_name":"is_a","term_name":"organic acid transmembrane transporter activity","termid":"GO:0005342"},{"relation_name":"is_a","term_name":"solute:sodium symporter activity","termid":"GO:0015370"}],"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:0022857","GO:0005215","GO:0003674"],"is_obsolete":false,"name":"organic acid:sodium symporter activity","secondary_identifiers":["Reactome:R-HSA-8876312"],"synonyms":[{"name":"sodium/chloride-dependent organic acid cotransporter activity","type":"related"},{"name":"sodium:dicarboxylate/tricarboxylate symporter activity","type":"narrow"}],"termid":"GO:0005343"}


id: PBO:0053732
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 951","termid":"PBO:0053732"}


id: PBO:0061060
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"sodium/potassium transporting ATPase interacting 1","termid":"PBO:0061060"}


id: PBO:0066989
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RN7SK pseudogene 292","termid":"PBO:0066989"}


id: PBO:0075107
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 156","termid":"PBO:0075107"}


id: MONDO:0013282
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis.","definition_xrefs":["Orphanet:60"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"obsolete nephropathy secondary to a storage or other metabolic disease (obsolete MONDO:0019743)","termid":"MONDO:0019743"},{"relation_name":"is_a","term_name":"syndromic disease","termid":"MONDO:0002254"},{"relation_name":"is_a","term_name":"plasma protein metabolism disease","termid":"MONDO:0002273"},{"relation_name":"is_a","term_name":"respiratory system disorder","termid":"MONDO:0005087"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005066"}],"interesting_parent_ids":["MONDO:0005066"],"is_obsolete":false,"name":"alpha 1-antitrypsin deficiency","secondary_identifiers":["GARD:5784","MESH:D019896","OMIM:613490","MedDRA:10001806","NANDO:1200755","NCIT:C84397","ICD9:273.4","icd11.foundation:824872160","MEDGEN:67461","UMLS:C0221757","DOID:13372","ICD10CM:E88.01","NANDO:2100174","NANDO:2200611","SCTID:30188007","NORD:754"],"synonyms":[{"name":"A-1ATD","type":"exact"},{"name":"A1AD","type":"exact"},{"name":"A1AT deficiency","type":"related"},{"name":"A1ATD","type":"related"},{"name":"AAT deficiency","type":"exact"},{"name":"AATD","type":"related"},{"name":"ALPHA-1-antitrypsin deficiency","type":"related"},{"name":"Alpha 1 antitrypsin deficiency","type":"related"},{"name":"Alpha-1 Antitrypsin Deficiency","type":"exact"},{"name":"Alpha-1 antitrypsin deficiency","type":"related"},{"name":"alpha 1-antitrypsin deficiency","type":"exact"},{"name":"alpha-1-antitrypsin deficiency","type":"related"},{"name":"deficiency in Alpa-1-proteinase inhibitor","type":"exact"},{"name":"emphysema due to AAT deficiency","type":"exact"},{"name":"emphysema-cirrhosis, due to AAT deficiency","type":"exact"},{"name":"hemorrhagic diathesis due to antithrombin pittsburgh","type":"exact"}],"termid":"MONDO:0013282","xrefs":{"Monarch":{"xref_id":"0013282"}}}


id: FYPO:0007940
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cellular process phenotype in which any process of chromatin organization is normal (i.e. indistinguishable from wild type). Chromatin organization results in the specification, formation or maintenance of the physical structure of eukaryotic chromatin.","definition_xrefs":["PomBase:val"],"direct_ancestors":[{"relation_name":"is_a","term_name":"normal cellular process during vegetative growth","termid":"FYPO:0001319"},{"relation_name":"is_a","term_name":"normal cellular component organization","termid":"FYPO:0006003"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0000257"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0001312"}],"interesting_parent_ids":["FYPO:0000257","FYPO:0001320","FYPO:0000002","FYPO:0001312"],"is_obsolete":false,"name":"normal chromatin organization","termid":"FYPO:0007940"}


id: MONDO:0004026
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A small, benign growth that arises from the skin. It is characterized by the presence of fibrovascular tissue lined by epidermis. It may be sessile or pendulous and usually occurs in sites where there is friction.","definition_xrefs":["NCIT:P378"],"direct_ancestors":[{"relation_name":"is_a","term_name":"reactive cutaneous fibrous lesion","termid":"MONDO:0006603"},{"relation_name":"is_a","term_name":"fibroepithelial polyp","termid":"MONDO:0060765"}],"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":"skin tag","secondary_identifiers":["DOID:6873","MEDGEN:11452","NCIT:C3374","UMLS:C0037293","SCTID:201091002"],"synonyms":[{"name":"acrochordon","type":"exact"},{"name":"cutaneous fibroepithelial polyp","type":"exact"},{"name":"cutaneous tag","type":"exact"},{"name":"fibroepithelial polyp","type":"related"},{"name":"fibroepithelial polyp of skin","type":"exact"},{"name":"fibroepithelial polyp of the skin","type":"exact"},{"name":"fibroma molle","type":"exact"},{"name":"soft fibroma","type":"exact"}],"termid":"MONDO:0004026","xrefs":{"Monarch":{"xref_id":"0004026"}}}


id: PBO:0041758
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"cyclase associated actin cytoskeleton regulatory protein 2","termid":"PBO:0041758"}


id: PBO:0052314
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"KIAA00895L pseudogene 1","termid":"PBO:0052314"}


id: GO:0042483
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents, or reduces the frequency, rate or extent of the formation and development of a tooth or teeth.","definition_xrefs":["GOC:jl"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of odontogenesis","termid":"GO:0042481"},{"relation_name":"is_a","term_name":"negative regulation of animal organ morphogenesis","termid":"GO:0110111"},{"relation_name":"negatively_regulates","term_name":"odontogenesis","termid":"GO:0042476"}],"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 odontogenesis","secondary_identifiers":["GO:0042486"],"synonyms":[{"name":"down regulation of odontogenesis","type":"exact"},{"name":"down-regulation of odontogenesis","type":"exact"},{"name":"downregulation of odontogenesis","type":"exact"},{"name":"inhibition of odontogenesis","type":"narrow"},{"name":"negative regulation of odontogenesis of calcareous or chitinous tooth","type":"narrow"},{"name":"negative regulation of tooth development","type":"exact"}],"termid":"GO:0042483"}


id: MONDO:0018690
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A rare syndrome characterized by an abnormally dilated pupil, hypoflexia, and diaphoresis. The syndrome is usually caused by a viral or bacterial infection. The abnormally dilated pupil is caused by damage to postganglionic parasympathetic fibers innervating the eye.","definition_xrefs":["NCIT:C34357"],"direct_ancestors":[{"relation_name":"is_a","term_name":"syndromic disease","termid":"MONDO:0002254"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Holmes-Adie syndrome","secondary_identifiers":["NORD:735","OMIM:103100","EFO:0004126","SCTID:24225004","UMLS:C0001519","MEDGEN:138","MESH:D000270","Orphanet:454718","GARD:5749","DOID:11549"],"synonyms":[{"name":"Adie Syndrome","type":"exact"},{"name":"Adie pupil","type":"exact"},{"name":"Adie syndrome","type":"exact"},{"name":"Adie's pupil","type":"exact"},{"name":"Adie's pupil or syndrome","type":"exact"},{"name":"Adie's pupil syndrome","type":"exact"},{"name":"Adie's syndrome","type":"exact"},{"name":"Holmes-Adie syndrome","type":"exact"},{"name":"poorly Reacting pupils","type":"related"},{"name":"tonic pupil","type":"exact"},{"name":"tonic pupil-tendon areflexia syndrome","type":"exact"},{"name":"tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes","type":"related"}],"termid":"MONDO:0018690","xrefs":{"Monarch":{"xref_id":"0018690"}}}


id: SO:0001641
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"A gene that encodes a long, intervening non-coding RNA.","definition_xrefs":["PMID:23463798","SO:ke"],"direct_ancestors":[{"relation_name":"is_a","term_name":"lncRNA_gene","termid":"SO:0002127"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"lincRNA_gene","synonyms":[{"name":"lincRNA gene","type":"exact"}],"termid":"SO:0001641"}


id: PBO:0041890
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"cation channel sperm associated auxiliary subunit gamma","termid":"PBO:0041890"}


id: GO:0010129
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the breakdown of cyclohexane-1-carboxylate, a alicyclic acid, in the absence of oxygen.","definition_xrefs":["GOC:pz"],"direct_ancestors":[{"relation_name":"is_a","term_name":"xenobiotic catabolic process","termid":"GO:0042178"}],"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":"anaerobic cyclohexane-1-carboxylate catabolic process","secondary_identifiers":["MetaCyc:PWY-301"],"synonyms":[{"name":"anaerobic cyclohexane-1-carboxylate breakdown","type":"exact"},{"name":"anaerobic cyclohexane-1-carboxylate catabolism","type":"exact"},{"name":"anaerobic cyclohexane-1-carboxylate degradation","type":"exact"}],"termid":"GO:0010129"}


id: PBO:0081883
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"zinc finger protein 831","termid":"PBO:0081883"}


id: MONDO:0000491
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A ischemia that involves the limb.","definition_xrefs":["MONDO:patterns/location"],"direct_ancestors":[{"relation_name":"is_a","term_name":"ischemic disease","termid":"MONDO:0005053"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"limb ischemia","secondary_identifiers":["UMLS:C2945695","DOID:0050852","MEDGEN:754513","SCTID:21631000119105"],"synonyms":[{"name":"ischaemic disease of limb","type":"exact"},{"name":"ischemic disease of limb","type":"exact"},{"name":"limb ischaemic disease","type":"exact"},{"name":"limb ischemia","type":"exact"},{"name":"limb ischemic disease","type":"exact"}],"termid":"MONDO:0000491","xrefs":{"Monarch":{"xref_id":"0000491"}}}


id: PATO:0000000
data:
  {"annotation_feature_type":"gene","cv_name":"quality","gene_count":0,"genotype_count":0,"name":"OBSOLETE PATO:0000000 pato (obsolete PATO:0000000)","termid":"PATO:0000000"}


id: PR:O13907
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- SPAC22A12.16 gene.","definition_xrefs":["PRO:DNx","UniProtKB:O13907"],"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":"ATP-citrate synthase subunit 2 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAC22A12.16","synonyms":[{"name":"ATP-citrate (pro-S-)-lyase 2 (Schizosaccharomyces pombe 972h-)","type":"exact"},{"name":"Spom972h-SPAC22A12.16","type":"exact"},{"name":"citrate cleavage enzyme subunit 2 (Schizosaccharomyces pombe 972h-)","type":"exact"}],"termid":"PR:O13907"}


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


id: PBO:0075502
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"spermatogenesis and centriole associated 1 like","termid":"PBO:0075502"}


id: PBO:0062920
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"pyrimidinergic receptor P2Y6","termid":"PBO:0062920"}


id: MONDO:0009925
data:
  {"annotated_genes":["SJAG_05213","SJAG_01344","SJAG_03785"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[87007,87008,87009],"is_not":false,"summary":null,"term":"MONDO:0009925"}]},"cv_name":"mondo","definition":"An autosomal recessive form of PXE.","direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"eye disorder","termid":"MONDO:0005328"},{"relation_name":"excluded_subClassOf","term_name":"familial restrictive cardiomyopathy","termid":"MONDO:0016340"},{"relation_name":"excluded_subClassOf","term_name":"developmental defect during embryogenesis","termid":"MONDO:0019755"},{"relation_name":"excluded_subClassOf","term_name":"pseudoxanthoma elasticum (inherited or acquired)","termid":"MONDO:0024308"},{"relation_name":"is_a","term_name":"autosomal recessive disease","termid":"MONDO:0006025"},{"relation_name":"is_a","term_name":"hereditary disorder of connective tissue","termid":"MONDO:0023603"},{"relation_name":"is_a","term_name":"inherited pseudoxanthoma elasticum","termid":"MONDO:0100091"}],"gene_count":3,"genes_by_uniquename":{"SJAG_01344":null,"SJAG_03785":null,"SJAG_05213":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0006025"}],"interesting_parent_ids":["MONDO:0006025"],"is_obsolete":false,"name":"autosomal recessive inherited pseudoxanthoma elasticum","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["Orphanet:758","UMLS:C1275116","ICD9:757.39","MESH:D011561","SCTID:72744008","icd11.foundation:1516160852","OMIM:264800","SCTID:402782006","SCTID:239140003","NCIT:C85036","DOID:2738","MEDGEN:698415","MedDRA:10037150","NORD:1629"],"synonyms":[{"name":"AR inherited pseudoxanthoma elasticum","type":"exact"},{"name":"Gronblad Strandberg syndrome","type":"related"},{"name":"Gronblad-Strandberg syndrome","type":"exact"},{"name":"Gronblad-Strandberg-Touraine syndrome","type":"exact"},{"name":"PXE","type":"exact"},{"name":"PXE, modifier of severity of","type":"related"},{"name":"Pseudoxanthoma Elasticum","type":"exact"},{"name":"pseudoxanthoma elasticum","type":"related"},{"name":"pseudoxanthoma elasticum, modifier of severity of","type":"related"}],"termid":"MONDO:0009925","terms_by_termid":{"MONDO:0009925":null},"xrefs":{"Monarch":{"xref_id":"0009925"}}}


id: PBO:0040413
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ATPase H+ transporting V0 subunit a4","termid":"PBO:0040413"}


id: GO:0033793
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reactions: 2',4,4',6'-tetrahydroxychalcone 4'-O-beta-D-glucoside + H+ + O2 = aureusidin 6-O-beta-glucoside + H2O, 2 2',3,4,4',6'-pentahydroxychalcone 4'-O-beta-D-glucoside + 2 H+ + O2 = 2 aureusidin 6-O-beta-glucoside + 2 H2O, and 2',3,4,4',6'-pentahydroxychalcone 4'-O-beta-D-glucoside + H+ + O2 = bracteatin 6-O-beta-glucoside + H2O. This activity consists of two separate chemical transformations: 3-hydroxylation and oxidative cyclization (2',-dehydrogenation).","definition_xrefs":["EC:1.21.3.6"],"direct_ancestors":[{"relation_name":"is_a","term_name":"oxidoreductase activity, acting on X-H and Y-H to form an X-Y bond, with oxygen as acceptor","termid":"GO:0046993"}],"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:0003824","GO:0016491","GO:0003674"],"is_obsolete":false,"name":"aureusidin synthase activity","synonyms":[{"name":"2',4,4',6'-tetrahydroxychalcone:oxygen oxidoreductase activity","type":"related"}],"termid":"GO:0033793"}


id: GO:0097098
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"An activity that facilitates the base-pairing of single-stranded RNA to double-stranded DNA resulting in the formation of R-loops.","definition_xrefs":["GOC:imk","PMID:21699496"],"direct_ancestors":[{"relation_name":"is_a","term_name":"DNA/RNA hybrid binding","termid":"GO:0071667"},{"relation_name":"is_a","term_name":"annealing activity","termid":"GO:0140666"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0005488"},{"rel_name":"is_a","termid":"GO:0016853"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0016853","GO:0003824","GO:0003674","GO:0005488"],"is_obsolete":false,"name":"DNA/RNA hybrid annealing activity","termid":"GO:0097098"}


id: MONDO:0016645
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete rare neoplastic disease (obsolete MONDO:0016645)","secondary_identifiers":["Orphanet:250908"],"termid":"MONDO:0016645","xrefs":{"Monarch":{"xref_id":"0016645"}}}


id: PBO:0088411
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"pentafunctional aromatic polypeptide Aro1","termid":"PBO:0088411"}


id: PBO:0110428
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"USP10 pseudogene 3","termid":"PBO:0110428"}


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id: PBO:0091817
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id: GO:0006449
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id: PATO:0002279
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id: GO:0015744
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id: GO:0004895
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id: PBO:0078125
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id: PBO:0031618
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id: GO:0072681
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id: PBO:0061715
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id: PBO:0058252
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id: PBO:0045191
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id: GO:1905247
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id: FYPO:0004816
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id: GO:0110013
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id: MONDO:0016710
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma, an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome and has a relatively good prognosis.","definition_xrefs":["Orphanet:251858"],"direct_ancestors":[{"relation_name":"is_a","term_name":"medulloblastoma","termid":"MONDO:0007959"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"medulloblastoma with extensive nodularity","secondary_identifiers":["NCIT:C5407","MEDGEN:233759","ICDO:9471/3","ONCOTREE:MBEN","UMLS:C1334970","GARD:17214","DOID:3873"],"synonyms":[{"name":"MBEN","type":"exact"},{"name":"cerebellar neuroblastoma","type":"exact"},{"name":"medulloblastoma with extensive nodularity","type":"exact"},{"name":"medulloblastoma with extensive nodularity and advanced neuronal differentiation","type":"exact"},{"name":"nodular medulloblastoma","type":"exact"}],"termid":"MONDO:0016710","xrefs":{"Monarch":{"xref_id":"0016710"}}}


id: SO:0000777
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"A non functional descendant of an rRNA.","definition_xrefs":["SO:ke"],"direct_ancestors":[{"relation_name":"is_a","term_name":"pseudogenic_transcript","termid":"SO:0000516"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"pseudogenic_rRNA","synonyms":[{"name":"INSDC_feature:rRNA","type":"broad"},{"name":"INSDC_qualifier:pseudo","type":"exact"},{"name":"pseudogenic rRNA","type":"exact"}],"termid":"SO:0000777"}


id: PBO:0072037
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein S10 pseudogene 7","termid":"PBO:0072037"}


id: PBO:0038962
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ADM divergent transcript","termid":"PBO:0038962"}


id: GO:0051115
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. The transient uridylylation of peptidyl-histidine to form 1'-(phospho-5'-uridine)-L-histidine (otherwise known as tau-UMP-histidine, tele-UMP-histidine).","definition_xrefs":["RESID:AA0372"],"gene_count":0,"genotype_count":0,"name":"obsolete enzyme active site formation via 1'-(phospho-5'-uridine)-L-histidine (obsolete GO:0051115)","termid":"GO:0051115"}


id: MONDO:0003531
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"papillary adenocarcinoma","termid":"MONDO:0002512"},{"relation_name":"is_a","term_name":"eccrine carcinoma","termid":"MONDO:0024240"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005093"},{"rel_name":"is_a","termid":"MONDO:0004992"}],"interesting_parent_ids":["MONDO:0004992","MONDO:0005093"],"is_obsolete":false,"name":"papillary eccrine carcinoma","secondary_identifiers":["MEDGEN:313149","NCIT:C27254","SCTID:254709009","DOID:5591","UMLS:C1707880"],"synonyms":[{"name":"digital papillary adenocarcinoma","type":"related"},{"name":"eccrine papillary adenocarcinoma","type":"related"},{"name":"papillary apocrine fibroadenoma","type":"exact"},{"name":"papillary eccrine adenoma","type":"exact"},{"name":"papillary eccrine carcinoma","type":"exact"},{"name":"tubular apocrine adenoma","type":"exact"}],"termid":"MONDO:0003531","xrefs":{"Monarch":{"xref_id":"0003531"}}}


id: PBO:0042307
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"CD24 molecule pseudogene 1","termid":"PBO:0042307"}


id: PBO:0064541
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"POM121 transmembrane nucleoporin like 2","termid":"PBO:0064541"}


id: PBO:0086899
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Putative transporter, member of the sugar porter family; localizes to the vacuolar membrane; non-essential gene; upregulated by and required for tolerance to 4-Methylcyclohexane methanol; YBR241C has a paralog, VPS73, that arose from the whole genome duplication","termid":"PBO:0086899"}


id: PBO:0073936
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"solute carrier family 17 member 8","termid":"PBO:0073936"}


id: PBO:0064061
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"piwi-interacting RNA cluster 95","termid":"PBO:0064061"}


id: MONDO:0019859
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete congenital thyroid malformation without hypothyroidism (obsolete MONDO:0019859)","secondary_identifiers":["Orphanet:95718"],"termid":"MONDO:0019859","xrefs":{"Monarch":{"xref_id":"0019859"}}}


id: SO:0002244
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"A transcript which is partially duplicated due to duplication of DNA, leading to a new transcript that is only partial and likely nonfunctional.","direct_ancestors":[{"relation_name":"is_a","term_name":"transcript_variant","termid":"SO:0001576"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"partially_duplicated_transcript","synonyms":[{"name":"partially duplicated transcript","type":"exact"}],"termid":"SO:0002244"}


id: PBO:0077242
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"transmembrane and coiled-coil domains 3","termid":"PBO:0077242"}


id: GO:0030673
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"The portion of the plasma membrane surrounding an axon; it is a specialized trilaminar random mosaic of protein molecules floating within a fluid matrix of highly mobile phospholipid molecules, 7-8 nm in thickness.","definition_xrefs":["PMID:9527135"],"direct_ancestors":[{"relation_name":"is_a","term_name":"neuron projection membrane","termid":"GO:0032589"},{"relation_name":"part_of","term_name":"main axon","termid":"GO:0044304"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005575"},{"rel_name":"part_of","termid":"GO:0005886"}],"interesting_parent_ids":["GO:0005886","GO:0005575"],"is_obsolete":false,"name":"axolemma","secondary_identifiers":["Wikipedia:Axolemma","NIF_Subcellular:sao250772229"],"synonyms":[{"name":"axonal membrane","type":"exact"}],"termid":"GO:0030673"}


id: PBO:0046099
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"eukaryotic translation initiation factor 4B pseudogene 2","termid":"PBO:0046099"}


id: MONDO:0013031
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"periventricular nodular heterotopia","termid":"MONDO:0020341"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0002320"}],"interesting_parent_ids":["MONDO:0002320"],"is_obsolete":false,"name":"chromosome 5Q14.3 deletion syndrome, distal","secondary_identifiers":["UMLS:C2752071","MESH:C567876","OMIM:612881","GARD:15589","MEDGEN:442882"],"synonyms":[{"name":"chromosome 5Q14.3 deletion syndrome, distal","type":"exact"},{"name":"heterotopia, periventricular, associated with chromosome 5Q deletion","type":"related"},{"name":"periventricular nodular heterotopia 5","type":"related"}],"termid":"MONDO:0013031","xrefs":{"Monarch":{"xref_id":"0013031"}}}


id: PBO:0076780
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"TEA domain transcription factor 3","termid":"PBO:0076780"}


id: MONDO:0016210
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"neurodevelopmental disorder","termid":"MONDO:0700092"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0700092"}],"interesting_parent_ids":["MONDO:0700092"],"is_obsolete":false,"name":"alternating hemiplegia","secondary_identifiers":["GARD:20446","MEDGEN:124456","SCTID:404689008","icd11.foundation:774373615","UMLS:C0278110","Orphanet:209978"],"termid":"MONDO:0016210","xrefs":{"Monarch":{"xref_id":"0016210"}}}


id: MONDO:0100614
data:
  {"annotated_genes":["SJAG_03145","SJAG_04901","SJAG_04781","SJAG_03703","SJAG_02431","SJAG_03764"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[88005],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0013261"},{"annotations":[88007,88006],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0013262"},{"annotations":[87257,87256],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0014548"},{"annotations":[87254,87255],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0014550"},{"annotations":[88539,88540],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0032915"},{"annotations":[89190],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0013367"}]},"cv_name":"mondo","definition":"Congenital heart disease with co-occurrence of other extracardiac congenital anomalies, or well characterized genetic conditions.","definition_xrefs":["PMID:30571578"],"direct_ancestors":[{"relation_name":"is_a","term_name":"syndromic disease","termid":"MONDO:0002254"},{"relation_name":"is_a","term_name":"congenital heart disease","termid":"MONDO:0005453"}],"gene_count":6,"genes_by_uniquename":{"SJAG_02431":null,"SJAG_03145":null,"SJAG_03703":null,"SJAG_03764":null,"SJAG_04781":null,"SJAG_04901":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005267"}],"interesting_parent_ids":["MONDO:0005267"],"is_obsolete":false,"name":"syndromic congenital heart disease","references_by_uniquename":{"PB_REF:0000006":null},"termid":"MONDO:0100614","terms_by_termid":{"MONDO:0013261":null,"MONDO:0013262":null,"MONDO:0013367":null,"MONDO:0014548":null,"MONDO:0014550":null,"MONDO:0032915":null},"xrefs":{"Monarch":{"xref_id":"0100614"}}}


id: MONDO:0015098
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete situs inversus totalis (obsolete MONDO:0015098)","synonyms":[{"name":"obsolete situs inversus totalis (disease)","type":"exact"}],"termid":"MONDO:0015098","xrefs":{"Monarch":{"xref_id":"0015098"}}}


id: GO:0003713
data:
  {"annotated_genes":["SJAG_00156","SJAG_00584","SJAG_02391","SJAG_01403","SJAG_02849","SJAG_01711","SJAG_03590","SJAG_03981","SJAG_00822","SJAG_03441","SJAG_01157","SJAG_01778","SJAG_00641","SJAG_00269","SJAG_05341","SJAG_04099","SJAG_01952","SJAG_06638","SJAG_03622","SJAG_02927","SJAG_03599","SJAG_00184","SJAG_00164","SJAG_00613","SJAG_02541","SJAG_03107","SJAG_02401","SJAG_03573","SJAG_00342","SJAG_01771","SJAG_04274","SJAG_02671","SJAG_00087","SJAG_01193","SJAG_00904","SJAG_02458","SJAG_00909","SJAG_05203","SJAG_03924","SJAG_05153","SJAG_04820","SJAG_02474","SJAG_01475","SJAG_02196","SJAG_01658","SJAG_01113","SJAG_04647","SJAG_03776","SJAG_03945","SJAG_04613","SJAG_02066","SJAG_04205","SJAG_00297","SJAG_03752","SJAG_02773","SJAG_01728","SJAG_03668","SJAG_02494","SJAG_04705"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[62680,62906,73340,75287,76741,77087,77363,78920,79441,80099,80407,90331,90955,91129,92212,92527,93272,95356,95953,96208,96319,96964,97265,97746,98047,99717,100472,100570,100923,101193,102400,103873,104783,105091,105287,105337,105539,105597,107714,108184,108322,108681,108854,109007,109284,109372,110195,110690,110716,113736,114283,114967,116309,116734,119579,119627,120965,121128,121129],"is_not":false,"summary":null,"term":"GO:0003713"}]},"cv_name":"molecular_function","definition":"A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-binding transcription factor at a specific genomic locus, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator.","definition_xrefs":["PMID:16858867","GOC:txnOH-2018","PMID:10213677"],"direct_ancestors":[{"relation_name":"is_a","term_name":"transcription coregulator activity","termid":"GO:0003712"}],"gene_count":59,"genes_by_uniquename":{"SJAG_00087":null,"SJAG_00156":null,"SJAG_00164":null,"SJAG_00184":null,"SJAG_00269":null,"SJAG_00297":null,"SJAG_00342":null,"SJAG_00584":null,"SJAG_00613":null,"SJAG_00641":null,"SJAG_00822":null,"SJAG_00904":null,"SJAG_00909":null,"SJAG_01113":null,"SJAG_01157":null,"SJAG_01193":null,"SJAG_01403":null,"SJAG_01475":null,"SJAG_01658":null,"SJAG_01711":null,"SJAG_01728":null,"SJAG_01771":null,"SJAG_01778":null,"SJAG_01952":null,"SJAG_02066":null,"SJAG_02196":null,"SJAG_02391":null,"SJAG_02401":null,"SJAG_02458":null,"SJAG_02474":null,"SJAG_02494":null,"SJAG_02541":null,"SJAG_02671":null,"SJAG_02773":null,"SJAG_02849":null,"SJAG_02927":null,"SJAG_03107":null,"SJAG_03441":null,"SJAG_03573":null,"SJAG_03590":null,"SJAG_03599":null,"SJAG_03622":null,"SJAG_03668":null,"SJAG_03752":null,"SJAG_03776":null,"SJAG_03924":null,"SJAG_03945":null,"SJAG_03981":null,"SJAG_04099":null,"SJAG_04205":null,"SJAG_04274":null,"SJAG_04613":null,"SJAG_04647":null,"SJAG_04705":null,"SJAG_04820":null,"SJAG_05153":null,"SJAG_05203":null,"SJAG_05341":null,"SJAG_06638":null},"genotype_count":0,"in_subsets":["mf_goslim_japonicus"],"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0060090"},{"rel_name":"is_a","termid":"GO:0030674"},{"rel_name":"is_a","termid":"GO:0140110"},{"rel_name":"is_a","termid":"GO:0003712"}],"interesting_parent_ids":["GO:0060090","GO:0003712","GO:0003674","GO:0030674","GO:0140110"],"is_obsolete":false,"name":"transcription coactivator activity","references_by_uniquename":{"GO_REF:0000002":null,"GO_REF:0000033":null,"GO_REF:0000104":null,"GO_REF:0000107":null},"secondary_identifiers":["GO:0001105"],"synonyms":[{"name":"RNA polymerase II transcription co-activator activity","type":"related"},{"name":"RNA polymerase II transcription coactivator activity","type":"related"},{"name":"RNA polymerase II transcription mediator activity","type":"related"},{"name":"transcription co-activator activity","type":"exact"}],"termid":"GO:0003713","terms_by_termid":{"GO:0003713":null}}


id: FYPO:0000258
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"OBSOLETE. A cell phenotype that shows no detectable differences from normal during exponential growth.","definition_xrefs":["PomBase:mah"],"gene_count":0,"genotype_count":0,"name":"obsolete normal phenotype during exponential phase (obsolete FYPO:0000258)","synonyms":[{"name":"fission yeast normal phenotype during exponential phase","type":"exact"},{"name":"no phenotype in exponential phase","type":"exact"},{"name":"normal phenotype during exponential phase during mitotic cell cycle","type":"related"},{"name":"normal phenotype during exponential phase during vegetative growth","type":"exact"}],"termid":"FYPO:0000258"}


id: GO:0033391
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"A ribonucleoprotein complex found in the cytoplasm of male germ cells, composed of exceedingly thin filaments that are consolidated into a compact mass or into dense strands of varying thickness that branch to form an irregular network. Contains mRNAs, miRNAs, and protein components involved in miRNA processing (such as Argonaute proteins and the endonuclease Dicer) and in RNA decay (such as the decapping enzyme DCP1a and GW182).","definition_xrefs":["PMID:17183363"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cytoplasmic ribonucleoprotein granule","termid":"GO:0036464"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005575"},{"rel_name":"part_of","termid":"GO:0005737"}],"interesting_parent_ids":["GO:0005575","GO:0005737"],"is_obsolete":false,"name":"chromatoid body","termid":"GO:0033391"}


id: MONDO:1012047
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"cerebellar cortical atrophy, non-human animal","termid":"MONDO:1011836"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"cerebellar cortical atrophy, cattle","secondary_identifiers":["OMIA:000177-9913"],"termid":"MONDO:1012047","xrefs":{"Monarch":{"xref_id":"1012047"}}}


id: MONDO:0013390
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.","definition_xrefs":["Orphanet:254361"],"direct_ancestors":[{"relation_name":"is_a","term_name":"autosomal recessive limb-girdle muscular dystrophy","termid":"MONDO:0015152"},{"relation_name":"is_a","term_name":"qualitative or quantitative defects of plectin","termid":"MONDO:0016198"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0006025"},{"rel_name":"is_a","termid":"MONDO:0005336"}],"interesting_parent_ids":["MONDO:0006025","MONDO:0005336"],"is_obsolete":false,"name":"autosomal recessive limb-girdle muscular dystrophy type 2Q","secondary_identifiers":["OMIM:613723","UMLS:C3150989","GARD:12542","DOID:0110285","MEDGEN:462339"],"synonyms":[{"name":"LGMD2Q","type":"exact"},{"name":"autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency","type":"exact"},{"name":"limb-girdle muscular dystrophy type 2Q","type":"related"},{"name":"muscular dystrophy, limb-girdle, autosomal recessive 17","type":"exact"},{"name":"muscular dystrophy, limb-girdle, type 2Q","type":"exact"}],"termid":"MONDO:0013390","xrefs":{"Monarch":{"xref_id":"0013390"}}}


id: GO:0102849
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"OBSOLETE. Catalysis of the reaction: 1-18:2-2-18:3-digalactosyldiacylglycerol + O2 + a reduced electron acceptor = 1-18:3-2-18:3-digalactosyldiacylglycerol + 2 H2O + an oxidized electron acceptor.","definition_xrefs":["GOC:pz"],"gene_count":0,"genotype_count":0,"name":"obsolete 1-18:2-2-18:3-digalactosyldiacylglycerol desaturase activity (obsolete GO:0102849)","termid":"GO:0102849"}


id: MONDO:0009110
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Dicarboxylicaminoaciduria is characterized by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit.","definition_xrefs":["Orphanet:2195"],"direct_ancestors":[{"relation_name":"is_a","term_name":"inborn disorder of amino acid transport","termid":"MONDO:0019216"}],"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":"dicarboxylic aminoaciduria","secondary_identifiers":["GARD:1855","OMIM:222730","icd11.foundation:1947265216","MEDGEN:387782","DOID:0060650","SCTID:716747007","UMLS:C1857253","MESH:C536171"],"synonyms":[{"name":"DCBXA","type":"related"},{"name":"Dicarboxylicaminoaciduria","type":"related"},{"name":"dicarboxylic aminoaciduria","type":"exact"},{"name":"glutamate-aspartate Transport defect","type":"related"},{"name":"glutamate-aspartate transport defect","type":"exact"}],"termid":"MONDO:0009110","xrefs":{"Monarch":{"xref_id":"0009110"}}}


id: GO:1905026
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that activates or increases the frequency, rate or extent of membrane repolarization during ventricular cardiac muscle cell action potential.","definition_xrefs":["GOC:rph","GOC:TermGenie","PMID:19893015","GOC:BHF_miRNA","GOC:BHF","GOC:mtg_cardiac_conduct_nov11","GO_REF:0000058"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of membrane repolarization during ventricular cardiac muscle cell action potential","termid":"GO:1905024"},{"relation_name":"is_a","term_name":"positive regulation of membrane repolarization during cardiac muscle cell action potential","termid":"GO:1905033"},{"relation_name":"positively_regulates","term_name":"membrane repolarization during ventricular cardiac muscle cell action potential","termid":"GO:0098915"}],"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 membrane repolarization during ventricular cardiac muscle cell action potential","synonyms":[{"name":"activation of electrocardiogram T wave","type":"related"},{"name":"activation of membrane repolarization during ventricular cardiac muscle cell action potential","type":"narrow"},{"name":"activation of regulation of ventricular cardiac muscle repolarization","type":"related"},{"name":"activation of ventricular repolarization","type":"related"},{"name":"positive regulation of electrocardiogram T wave","type":"related"},{"name":"positive regulation of regulation of ventricular cardiac muscle repolarization","type":"related"},{"name":"positive regulation of ventricular repolarization","type":"related"},{"name":"up regulation of electrocardiogram T wave","type":"related"},{"name":"up regulation of membrane repolarization during ventricular cardiac muscle cell action potential","type":"exact"},{"name":"up regulation of regulation of ventricular cardiac muscle repolarization","type":"related"},{"name":"up regulation of ventricular repolarization","type":"related"},{"name":"up-regulation of electrocardiogram T wave","type":"related"},{"name":"up-regulation of membrane repolarization during ventricular cardiac muscle cell action potential","type":"exact"},{"name":"up-regulation of regulation of ventricular cardiac muscle repolarization","type":"related"},{"name":"up-regulation of ventricular repolarization","type":"related"},{"name":"upregulation of electrocardiogram T wave","type":"related"},{"name":"upregulation of membrane repolarization during ventricular cardiac muscle cell action potential","type":"exact"},{"name":"upregulation of regulation of ventricular cardiac muscle repolarization","type":"related"},{"name":"upregulation of ventricular repolarization","type":"related"}],"termid":"GO:1905026"}


id: GO:0018716
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"OBSOLETE. Catalysis of the reaction: 1-phenanthrol + glucose = 1-phenanthryl-beta-D-glucopyranoside + H2O.","definition_xrefs":["GOC:curators"],"gene_count":0,"genotype_count":0,"name":"obsolete 1-phenanthrol glycosyltransferase activity (obsolete GO:0018716)","termid":"GO:0018716"}


id: MONDO:0010206
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Any hypotrichosis in which the cause of the disease is a mutation in the LPAR6 gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"hypotrichosis","termid":"MONDO:0003037"},{"relation_name":"is_a","term_name":"isolated familial wooly hair disorder","termid":"MONDO:0008686"},{"relation_name":"is_a","term_name":"hypotrichosis simplex","termid":"MONDO:0018914"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"hypotrichosis 8","secondary_identifiers":["MESH:C566950","UMLS:C3279470","DOID:0110705","GARD:15247","OMIM:278150","MEDGEN:481100"],"synonyms":[{"name":"HYPT8","type":"exact"},{"name":"LAH3","type":"exact"},{"name":"LPAR6 hypotrichosis","type":"exact"},{"name":"hypotrichosis 8","type":"exact"},{"name":"hypotrichosis caused by mutation in LPAR6","type":"exact"},{"name":"hypotrichosis type 8","type":"exact"},{"name":"hypotrichosis, localized, autosomal recessive 3","type":"exact"},{"name":"woolly hair, autosomal recessive 1, with or without hypotrichosis","type":"related"},{"name":"wooly hair, autosomal recessive 1, with or without hypotrichosis","type":"related"}],"termid":"MONDO:0010206","xrefs":{"Monarch":{"xref_id":"0010206"}}}


id: GO:0044666
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"A protein complex that can methylate lysine-4 of histone H3, and which contains either of the protein subunits MLL3 or MLL4 in mammals, or equivalent in other species.","definition_xrefs":["GOC:sart","PMID:21875999"],"direct_ancestors":[{"relation_name":"is_a","term_name":"histone methyltransferase complex","termid":"GO:0035097"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005575"},{"rel_name":"is_a","termid":"GO:0032991"},{"rel_name":"part_of","termid":"GO:0005654"},{"rel_name":"part_of","termid":"GO:0005634"}],"interesting_parent_ids":["GO:0005654","GO:0005575","GO:0032991","GO:0005634"],"is_obsolete":false,"name":"MLL3/4 complex","synonyms":[{"name":"Trr/COMPASS-like complex","type":"exact"}],"termid":"GO:0044666"}


id: PBO:0114387
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"plasma membrane sulphite transmembrane transporter Ssu4","termid":"PBO:0114387"}


id: FYPO:0003647
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cellular process phenotype observed in the vegetative growth phase of the life cycle in which the import of sorbose into the cell occurs to a lower extent than normal.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal transport during vegetative growth","termid":"FYPO:0005973"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"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"},{"rel_name":"is_a","termid":"FYPO:0005447"}],"interesting_parent_ids":["FYPO:0001320","FYPO:0005447","FYPO:0000002","FYPO:0000138","FYPO:0001985"],"is_obsolete":false,"name":"decreased sorbose import","synonyms":[{"name":"decreased sorbose import across plasma membrane","type":"exact"},{"name":"decreased sorbose import during mitotic cell cycle","type":"related"},{"name":"decreased sorbose import during vegetative growth","type":"exact"},{"name":"decreased sorbose import into cell","type":"exact"},{"name":"decreased sorbose uptake","type":"exact"},{"name":"reduced sorbose import","type":"exact"}],"termid":"FYPO:0003647"}


id: PBO:0065881
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RAB31, member RAS oncogene family","termid":"PBO:0065881"}


id: MONDO:0009424
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"Bartter syndrome","termid":"MONDO:0015231"}],"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":"Bartter disease type 2","secondary_identifiers":["DOID:0110143","Orphanet:620220","SCTID:700109009","UMLS:C1855849","MEDGEN:343428","MESH:C537651","OMIM:241200","GARD:22483"],"synonyms":[{"name":"BARTS2","type":"exact"},{"name":"Bartter disease type 2","type":"exact"},{"name":"Bartter syndrome antenatal type 2","type":"related"},{"name":"Bartter syndrome caused by mutation in KCNJ1","type":"exact"},{"name":"Bartter syndrome type 2","type":"exact"},{"name":"Bartter syndrome type 2 antenatal","type":"exact"},{"name":"Bartter syndrome, antenatal, type 2","type":"related"},{"name":"Bartter syndrome, type 2","type":"exact"},{"name":"Bartter syndrome, type 2, antenatal","type":"related"},{"name":"KCNJ1 Bartter syndrome","type":"exact"},{"name":"hyperprostaglandin E syndrome 2","type":"exact"},{"name":"hypokalemic alkalosis with hypercalciuria 2 antenatal","type":"exact"},{"name":"hypokalemic alkalosis with hypercalciuria 2, antenatal","type":"related"},{"name":"hypokalemic alkalosis with hypercalciuria antenatal 2","type":"related"},{"name":"hypokalemic alkalosis with hypercalciuria, antenatal, 2","type":"related"}],"termid":"MONDO:0009424","xrefs":{"Monarch":{"xref_id":"0009424"}}}


id: PBO:0090663
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"human mmtag2 ortholog, implicated in splicing","termid":"PBO:0090663"}


id: GO:0009696
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways involving of salicylic acid (2-hydroxybenzoic acid), a derivative of benzoic acid.","definition_xrefs":["ISBN:0943088399"],"direct_ancestors":[{"relation_name":"is_a","term_name":"phenol-containing compound metabolic process","termid":"GO:0018958"},{"relation_name":"is_a","term_name":"monocarboxylic acid metabolic process","termid":"GO:0032787"},{"relation_name":"is_a","term_name":"benzene-containing compound metabolic process","termid":"GO:0042537"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0044281"}],"interesting_parent_ids":["GO:0008150","GO:0044281"],"is_obsolete":false,"name":"salicylic acid metabolic process","synonyms":[{"name":"salicylic acid metabolism","type":"exact"}],"termid":"GO:0009696"}


id: MONDO:0600002
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"An infectious disease caused by certain viruses or bacteria that can damage the walls of tiny blood vessels, making them leak, and can hamper the blood's ability to clot and cause severe, life-threatening illness.","direct_ancestors":[{"relation_name":"is_a","term_name":"infectious disease","termid":"MONDO:0005550"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"hemorrhagic fever","secondary_identifiers":["NCIT:C36169"],"synonyms":[{"name":"haemorrhagic fever","type":"exact"}],"termid":"MONDO:0600002","xrefs":{"Monarch":{"xref_id":"0600002"}}}


id: FYPO:0006004
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 cytoplasmic microtubule organization is normal (i.e. indistinguishable from wild type) during interphase of the mitotic cell cycle.","definition_xrefs":["GO:0031122","PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"normal microtubule cytoskeleton organization during vegetative growth","termid":"FYPO:0000899"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000257"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0001312"}],"interesting_parent_ids":["FYPO:0001320","FYPO:0000002","FYPO:0001312","FYPO:0000257"],"is_obsolete":false,"name":"normal interphase microtubule organization","synonyms":[{"name":"normal cytoplasmic microtubule organization during interphase during vegetative growth","type":"exact"},{"name":"normal cytoplasmic microtubule organization during interphase of mitotic cell cycle","type":"exact"},{"name":"normal cytoplasmic microtubule organization during mitotic interphase","type":"exact"},{"name":"normal interphase cytoplasmic microtubule organization","type":"exact"},{"name":"normal interphase microtubule organisation","type":"exact"}],"termid":"FYPO:0006004"}


id: GO:0043952
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process in which unfolded proteins are transported across the cytoplasmic membrane in Gram-positive and Gram-negative bacteria by the Sec complex, in a process involving proteolytic cleavage of an N-terminal signal peptide.","definition_xrefs":["GOC:pamgo_curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"protein transmembrane transport","termid":"GO:0071806"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0055085"},{"rel_name":"is_a","termid":"GO:0051179"},{"rel_name":"is_a","termid":"GO:0006810"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0006810","GO:0051179","GO:0008150","GO:0055085"],"is_obsolete":false,"name":"protein transport by the Sec complex","synonyms":[{"name":"protein secretion by the Sec complex","type":"narrow"},{"name":"protein translocation by the Sec complex","type":"narrow"}],"termid":"GO:0043952"}


id: PBO:0079568
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ubiquitin B","termid":"PBO:0079568"}


id: PBO:0075576
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"SPIN4 antisense RNA 1","termid":"PBO:0075576"}


id: PBO:0055443
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 2874","termid":"PBO:0055443"}


id: GO:0006525
data:
  {"annotated_genes":["SJAG_00412","SJAG_00695","SJAG_00636","SJAG_01019","SJAG_04577","SJAG_01461","SJAG_00635","SJAG_00495","SJAG_03398","SJAG_00392","SJAG_01592","SJAG_00043"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[100053,120417,108467,80293,113061,72078,113891,104542,112440],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0042450"},{"annotations":[80201],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0019544"},{"annotations":[115194,80199],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0010121"},{"annotations":[77536],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0033387"}]},"cv_name":"biological_process","definition":"The chemical reactions and pathways involving arginine, 2-amino-5-(carbamimidamido)pentanoic acid.","definition_xrefs":["GOC:go_curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"alpha-amino acid metabolic process","termid":"GO:1901605"}],"gene_count":12,"genes_by_uniquename":{"SJAG_00043":null,"SJAG_00392":null,"SJAG_00412":null,"SJAG_00495":null,"SJAG_00635":null,"SJAG_00636":null,"SJAG_00695":null,"SJAG_01019":null,"SJAG_01461":null,"SJAG_01592":null,"SJAG_03398":null,"SJAG_04577":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0044281"},{"rel_name":"is_a","termid":"GO:0006520"}],"interesting_parent_ids":["GO:0008150","GO:0006520","GO:0044281"],"is_obsolete":false,"name":"arginine metabolic process","references_by_uniquename":{"GO_REF:0000033":null,"GO_REF:0000107":null},"secondary_identifiers":["Wikipedia:Arginine"],"synonyms":[{"name":"arginine metabolism","type":"exact"}],"termid":"GO:0006525","terms_by_termid":{"GO:0010121":null,"GO:0019544":null,"GO:0033387":null,"GO:0042450":null}}


id: PBO:0083816
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Essential subunit of inner ring of nuclear pore complex (NPC); plays a role in modulating transport through the NPC; homologous to human NUP205","termid":"PBO:0083816"}


id: MONDO:0010933
data:
  {"annotated_genes":["SJAG_02463","SJAG_01941"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[87158,87159],"is_not":false,"summary":null,"term":"MONDO:0010933"}]},"cv_name":"mondo","definition":"An autosomal recessive nonsyndromic deafness that has material basis in mutation in the SLC26A4 gene on chromosome 7q22. Mutation in the FOXI1 gene has been found to be a rare cause of EVA. EVA may also be rarely caused by digenic inheritance of heterozygous mutations in the SLC26A4 and FOXI1 genes, or in the SLC26A4 and KCNJ10 genes.","definition_xrefs":["DOID:0110498","OMIM:600791","PMID:9500541"],"direct_ancestors":[{"relation_name":"is_a","term_name":"hearing loss, autosomal recessive","termid":"MONDO:0019588"}],"gene_count":2,"genes_by_uniquename":{"SJAG_01941":null,"SJAG_02463":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0019497"},{"rel_name":"is_a","termid":"MONDO:0006025"}],"interesting_parent_ids":["MONDO:0019497","MONDO:0006025"],"is_obsolete":false,"name":"autosomal recessive nonsyndromic hearing loss 4","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["GARD:22584","MESH:C566366","MEDGEN:761234","UMLS:C3538946"],"synonyms":[{"name":"DFNB4","type":"narrow"},{"name":"autosomal recessive deafness 4 with enlarged vestibular aqueduct","type":"narrow"},{"name":"autosomal recessive nonsyndromic deafness 4","type":"narrow"},{"name":"autosomal recessive nonsyndromic deafness type 4","type":"narrow"},{"name":"deafness, autosomal recessive 4, with enlarged vestibular aqueduct","type":"narrow"},{"name":"dilated vestibular aqueduct","type":"related"},{"name":"enlarged vestibular aqueduct","type":"exact"},{"name":"enlarged vestibular aqueduct, digenic","type":"exact"},{"name":"neurosensory nonsyndromic recessive deafness 4","type":"narrow"}],"termid":"MONDO:0010933","terms_by_termid":{"MONDO:0010933":null},"xrefs":{"Monarch":{"xref_id":"0010933"}}}


id: PBO:0005771
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"human CTD-binding SR-like protein rA9 homolog (predicted)","termid":"PBO:0005771"}


id: MONDO:0009189
data:
  {"annotated_genes":["SJAG_02463","SJAG_01941"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[87587,87588],"is_not":false,"summary":null,"term":"MONDO:0009189"}]},"cv_name":"mondo","definition":"Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.","definition_xrefs":["Orphanet:93307"],"direct_ancestors":[{"relation_name":"is_a","term_name":"mineral metabolism disease","termid":"MONDO:0000226"},{"relation_name":"is_a","term_name":"multiple epiphyseal dysplasia","termid":"MONDO:0016648"},{"relation_name":"is_a","term_name":"inborn errors of metabolism","termid":"MONDO:0019052"},{"relation_name":"is_a","term_name":"SLC26A2-related skeletal dysplasia","termid":"MONDO:0100592"}],"gene_count":2,"genes_by_uniquename":{"SJAG_01941":null,"SJAG_02463":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005497"},{"rel_name":"is_a","termid":"MONDO:0005066"}],"interesting_parent_ids":["MONDO:0005497","MONDO:0005066"],"is_obsolete":false,"name":"multiple epiphyseal dysplasia type 4","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["DOID:0070300","MEDGEN:376164","MESH:C535504","SCTID:715672007","UMLS:C1847593","ICD10CM:Q77.3","NORD:1881","OMIM:226900","icd11.foundation:1927114777","GARD:9793"],"synonyms":[{"name":"EDM4","type":"exact"},{"name":"MED4","type":"exact"},{"name":"Polyepiphyseal dysplasia type 4","type":"exact"},{"name":"Recessive Multiple Epiphyseal Dysplasia","type":"exact"},{"name":"SLC26A2 multiple epiphyseal dysplasia (disease)","type":"exact"},{"name":"autosomal recessive multiple epiphyseal dysplasia","type":"exact"},{"name":"epiphyseal dysplasia multiple 4","type":"related"},{"name":"epiphyseal dysplasia, multiple, 4","type":"related"},{"name":"epiphyseal dysplasia, multiple, type 4","type":"exact"},{"name":"multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2","type":"exact"},{"name":"multiple epiphyseal dysplasia 4","type":"related"},{"name":"multiple epiphyseal dysplasia with Bilayered patellae","type":"related"},{"name":"multiple epiphyseal dysplasia with clubfoot","type":"related"},{"name":"multiple epiphyseal dysplasia with double-layered patella","type":"related"},{"name":"multiple epiphyseal dysplasia, autosomal recessive","type":"related"},{"name":"rMED","type":"exact"}],"termid":"MONDO:0009189","terms_by_termid":{"MONDO:0009189":null},"xrefs":{"Monarch":{"xref_id":"0009189"}}}


id: SO:0000487
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"Genomic DNA of immunoglobulin/T-cell receptor gene in rearranged configuration including at least one VDJ-gene, one J-gene and one C-gene.","direct_ancestors":[{"relation_name":"has_part","term_name":"J_gene_segment","termid":"SO:0000470"},{"relation_name":"has_part","term_name":"C_gene_segment","termid":"SO:0000478"},{"relation_name":"has_part","term_name":"VDJ_gene_segment","termid":"SO:0000574"},{"relation_name":"is_a","term_name":"vertebrate_immunoglobulin_T_cell_receptor_rearranged_gene_cluster","termid":"SO:0000938"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"VDJ_J_C_cluster","synonyms":[{"name":"(VDJ)-J-C-CLUSTER","type":"exact"},{"name":"VDJ J C cluster","type":"exact"}],"termid":"SO:0000487"}


id: MONDO:0012011
data:
  {"annotated_genes":["SJAG_00210","SJAG_02218"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[89134,89135],"is_not":false,"summary":null,"term":"MONDO:0012011"}]},"cv_name":"mondo","definition":"Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"coronary artery disorder","termid":"MONDO:0005010"},{"relation_name":"is_a","term_name":"cardiogenetic disease","termid":"MONDO:0100547"}],"gene_count":2,"genes_by_uniquename":{"SJAG_00210":null,"SJAG_02218":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005267"}],"interesting_parent_ids":["MONDO:0005267"],"is_obsolete":false,"name":"coronary artery disease, autosomal dominant, 1","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["MEDGEN:330802","MESH:C564258","OMIM:608320","UMLS:C1842247"],"synonyms":[{"name":"ADCAD1","type":"related"},{"name":"MEF2A coronary artery disease","type":"exact"},{"name":"coronary artery disease caused by mutation in MEF2A","type":"exact"},{"name":"coronary artery disease with myocardial infarction","type":"related"},{"name":"coronary artery disease, autosomal dominant, 1","type":"exact"},{"name":"coronary artery disease, autosomal dominant, type 1","type":"exact"}],"termid":"MONDO:0012011","terms_by_termid":{"MONDO:0012011":null},"xrefs":{"Monarch":{"xref_id":"0012011"}}}


id: MONDO:0004961
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Endometrial cancer is a cancer that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage I, the cancer is only growing in the body of the uterus. It may also be growing into the glands of the cervix, but is not growing into the supporting connective tissue of the cervix.","definition_xrefs":["EFO:0000205"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"obsolete stage of disease (obsolete MONDO:0021007)","termid":"MONDO:0021007"},{"relation_name":"is_a","term_name":"endometrioid adenocarcinoma","termid":"MONDO:0005026"}],"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":"stage I endometrioid carcinoma","termid":"MONDO:0004961","xrefs":{"Monarch":{"xref_id":"0004961"}}}


id: FYPO:0001510
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cell phenotype in which a cell is viable, cell shape is altered, and cell size remains normal, in the vegetative growth phase of the life cycle.","definition_xrefs":["PomBase:vw","PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"vegetative cell, abnormal cell shape, normal cell size","termid":"FYPO:0001121"},{"relation_name":"is_a","term_name":"viable vegetative cell with normal cell size","termid":"FYPO:0002176"},{"relation_name":"is_a","term_name":"viable vegetative cell with abnormal cell shape","termid":"FYPO:0002197"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0001312"},{"rel_name":"has_part","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0000005"},{"rel_name":"has_part","termid":"FYPO:0000005"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"has_part","termid":"FYPO:0001320"},{"rel_name":"has_part","termid":"FYPO:0000257"},{"rel_name":"has_part","termid":"FYPO:0000004"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0000004"},{"rel_name":"is_a","termid":"FYPO:0000257"}],"interesting_parent_ids":["FYPO:0000002","FYPO:0000005","FYPO:0000257","FYPO:0001312","FYPO:0000004","FYPO:0001985","FYPO:0001320"],"is_obsolete":false,"name":"viable vegetative cell, abnormal cell shape, normal cell size","synonyms":[{"name":"viable lumpy cell","type":"related"},{"name":"viable vegetative cell with abnormal cell shape and normal cell size","type":"related"},{"name":"viable vegetative cell, abnormal cell shape, normal cell length","type":"narrow"},{"name":"viable vegetative cell, abnormal cell shape, normal cell size during mitotic cell cycle","type":"related"},{"name":"viable, abnormal cell shape, normal cell size during vegetative growth","type":"exact"}],"termid":"FYPO:0001510"}


id: MONDO:0003418
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete bile duct adenoma (obsolete MONDO:0003418)","termid":"MONDO:0003418","xrefs":{"Monarch":{"xref_id":"0003418"}}}


id: PBO:0056380
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"MAPK10 antisense RNA 1","termid":"PBO:0056380"}


id: PBO:0062198
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 U member 1 pseudogene","termid":"PBO:0062198"}


id: GO:0140348
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the movement of lysophosphatidylcholine from the exoplasmic to the cytosolic leaflet of a membrane, using energy from the hydrolysis of ATP.","definition_xrefs":["PMID:26945070"],"direct_ancestors":[{"relation_name":"is_a","term_name":"glycerophospholipid flippase activity","termid":"GO:0140333"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0140303"},{"rel_name":"is_a","termid":"GO:0005215"}],"interesting_parent_ids":["GO:0003674","GO:0140303","GO:0005215"],"is_obsolete":false,"name":"lysophosphatidylcholine flippase activity","synonyms":[{"name":"lysophosphatidylcholine flippase activity (exoplasmic to cytosolic leaflet)","type":"exact"}],"termid":"GO:0140348"}


id: PBO:0079418
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"tubulin beta pseudogene 1","termid":"PBO:0079418"}


id: PATO:0000306
data:
  {"annotation_feature_type":"gene","cv_name":"quality","gene_count":0,"genotype_count":0,"name":"OBSOLETE PATO:0000306 absolute age value (obsolete PATO:0000306)","termid":"PATO:0000306"}


id: PBO:0091948
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"pyridoxal reductase","termid":"PBO:0091948"}


id: MONDO:0022819
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete congenital arteriovenous shunt (obsolete MONDO:0022819)","termid":"MONDO:0022819","xrefs":{"Monarch":{"xref_id":"0022819"}}}


id: PBO:0086148
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Protein required for nuclear envelope fusion during karyogamy; pheromone-regulated; peripheral protein of the nuclear membrane; interacts with Kar5p at the spindle pole body","termid":"PBO:0086148"}


id: PBO:0065581
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"protein tyrosine kinase 2 beta","termid":"PBO:0065581"}


id: PBO:0086346
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"P subunit of the mitochondrial glycine decarboxylase complex; glycine decarboxylase is required for the catabolism of glycine to 5,10-methylene-THF; expression is regulated by levels of 5,10-methylene-THF in the cytoplasm","termid":"PBO:0086346"}


id: PBO:0087892
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Transcription coactivator; component of the ADA and SAGA transcriptional adaptor/HAT (histone acetyltransferase) complexes","termid":"PBO:0087892"}


id: PBO:0077116
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"TIMM23B-AGAP6 readthrough (NMD candidate)","termid":"PBO:0077116"}


id: PBO:0069382
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U6 small nuclear 642, pseudogene","termid":"PBO:0069382"}


id: PBO:0088674
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"arrestin-related substrate adaptor Rod1","termid":"PBO:0088674"}


id: FYPO:0002078
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 calcium during a cellular hypotonic response. Cells stop growing (and may die) at a concentration of calcium ions that allows wild type cells to grow.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"sensitive to calcium","termid":"FYPO:0000098"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000139"},{"rel_name":"is_a","termid":"FYPO:0002683"},{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0000003"},{"rel_name":"is_a","termid":"FYPO:0001985"}],"interesting_parent_ids":["FYPO:0002683","FYPO:0000139","FYPO:0001985","FYPO:0005447","FYPO:0000003"],"is_obsolete":false,"name":"sensitive to calcium during cellular hypotonic response","synonyms":[{"name":"hypersensitive to calcium during cellular hypotonic response","type":"exact"},{"name":"sensitive to calcium during cellular hypoosmotic response","type":"exact"},{"name":"sensitive to calcium during cellular hypotonic response during mitotic cell cycle","type":"related"},{"name":"sensitive to calcium during cellular hypotonic response during vegetative growth","type":"exact"},{"name":"sensitive to calcium ions during cellular hypotonic response","type":"exact"}],"termid":"FYPO:0002078"}


id: GO:2000110
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents, or reduces the frequency, rate or extent of macrophage apoptotic process.","definition_xrefs":["GOC:mtg_apoptosis","GOC:BHF"],"direct_ancestors":[{"relation_name":"is_a","term_name":"negative regulation of myeloid cell apoptotic process","termid":"GO:0033033"},{"relation_name":"is_a","term_name":"negative regulation of leukocyte apoptotic process","termid":"GO:2000107"},{"relation_name":"is_a","term_name":"regulation of macrophage apoptotic process","termid":"GO:2000109"},{"relation_name":"negatively_regulates","term_name":"macrophage apoptotic process","termid":"GO:0071888"}],"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 macrophage apoptotic process","synonyms":[{"name":"negative regulation of AICD","type":"related"},{"name":"negative regulation of activation-induced cell death","type":"related"},{"name":"negative regulation of macrophage apoptosis","type":"narrow"}],"termid":"GO:2000110"}


id: GO:0046257
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. The chemical reactions and pathways resulting in the formation of 2,4,6-trinitrotoluene, 1-methyl-2,4,6-trinitrobenzene, a highly explosive pale yellow crystalline solid, in the absence of oxygen.","definition_xrefs":["GOC:ai"],"gene_count":0,"genotype_count":0,"name":"obsolete anaerobic 2,4,6-trinitrotoluene biosynthetic process (obsolete GO:0046257)","synonyms":[{"name":"anaerobic 2,4,6-trinitrotoluene anabolism","type":"exact"},{"name":"anaerobic 2,4,6-trinitrotoluene biosynthesis","type":"exact"},{"name":"anaerobic 2,4,6-trinitrotoluene biosynthetic process","type":"exact"},{"name":"anaerobic 2,4,6-trinitrotoluene formation","type":"exact"},{"name":"anaerobic 2,4,6-trinitrotoluene synthesis","type":"exact"}],"termid":"GO:0046257"}


id: PBO:0061008
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"niban apoptosis regulator 1","termid":"PBO:0061008"}


id: MONDO:0019880
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism).","definition_xrefs":["Orphanet:96097"],"direct_ancestors":[{"relation_name":"is_a","term_name":"partial trisomy of the long arm of chromosome 5","termid":"MONDO:0016956"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"distal trisomy 5q","secondary_identifiers":["MEDGEN:1646186","SCTID:763274002","UMLS:C4706363","GARD:19313"],"synonyms":[{"name":"distal duplication 5q","type":"exact"},{"name":"distal trisomy type 5q","type":"exact"},{"name":"telomeric duplication 5q","type":"exact"},{"name":"trisomy 5qter","type":"exact"}],"termid":"MONDO:0019880","xrefs":{"Monarch":{"xref_id":"0019880"}}}


id: PBO:0031284
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-abnormal_chromatin_silencing_at_centromere","termid":"PBO:0031284"}


id: MONDO:0019790
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Neuroleptic malignant syndrome (NMS) is an idiosyncratic condition associated with administration of antipsychotic and other central dopaminergic blockers, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness.","definition_xrefs":["Orphanet:94093"],"direct_ancestors":[{"relation_name":"is_a","term_name":"syndromic disease","termid":"MONDO:0002254"},{"relation_name":"is_a","term_name":"nervous system disorder","termid":"MONDO:0005071"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"neuroleptic malignant syndrome","secondary_identifiers":["NCIT:C94829","DOID:14464","ICD10CM:G21.0","ICD9:333.92","icd11.foundation:498240876","EFO:1001379","GARD:7195","MEDGEN:10320","NORD:1504","MedDRA:10029282","MESH:D009459","SCTID:15244003","UMLS:C0027849"],"synonyms":[{"name":"NMS","type":"exact"}],"termid":"MONDO:0019790","xrefs":{"Monarch":{"xref_id":"0019790"}}}


id: FYPO:0003107
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A physical cellular phenotype observed in the vegetative growth phase of the life cycle in which cells form telomeres that are shorter than normal, and that continue to decrease in length over successive generations.","definition_xrefs":["PMID:24013504","PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"shortened telomeres during vegetative growth","termid":"FYPO:0002239"}],"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":"output_of","termid":"FYPO:0005447"},{"rel_name":"output_of","termid":"FYPO:0001985"},{"rel_name":"output_of","termid":"FYPO:0000641"},{"rel_name":"output_of","termid":"FYPO:0001320"},{"rel_name":"output_of","termid":"FYPO:0000293"},{"rel_name":"is_a","termid":"FYPO:0001320"}],"interesting_parent_ids":["FYPO:0000641","FYPO:0000002","FYPO:0001985","FYPO:0000293","FYPO:0005447","FYPO:0001320"],"is_obsolete":false,"name":"progressively shortening telomeres during vegetative growth","synonyms":[{"name":"progressively decreasing telomere length during vegetative growth","type":"exact"},{"name":"progressively shortening telomeres during mitotic cell cycle","type":"related"}],"termid":"FYPO:0003107"}


id: GO:0097603
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Enables the transmembrane transfer of an ion by a channel that opens in response to a temperature stimulus (e.g. exposure to a temperature range different than the optimal temperature for that organism).","definition_xrefs":["GOC:pr","PMID:23027824","GOC:ha"],"direct_ancestors":[{"relation_name":"is_a","term_name":"monoatomic ion channel activity","termid":"GO:0005216"},{"relation_name":"is_a","term_name":"gated channel activity","termid":"GO:0022836"}],"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:0022857","GO:0003674","GO:0005215"],"is_obsolete":false,"name":"temperature-gated ion channel activity","synonyms":[{"name":"heat-activated ion channel activity","type":"narrow"},{"name":"temperature gated ion channel activity","type":"exact"},{"name":"temperature-activated ion channel activity","type":"exact"},{"name":"temperature-dependent ion channel activity","type":"exact"}],"termid":"GO:0097603"}


id: PBO:0002244
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ATP-dependent DNA helicase, UvrD subfamily","termid":"PBO:0002244"}


id: PBO:0002341
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"vacuolar carboxypeptidase Y","termid":"PBO:0002341"}


id: GO:1903354
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of distal tip cell migration.","definition_xrefs":["GO_REF:0000058","GOC:TermGenie","GOC:mm2","PMID:24968003"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of cell migration","termid":"GO:0030334"},{"relation_name":"regulates","term_name":"distal tip cell migration","termid":"GO:0097628"}],"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 distal tip cell migration","termid":"GO:1903354"}


id: GO:0015445
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + Ag+(in) = ADP + phosphate + Ag+(out).","definition_xrefs":["RHEA:14733"],"direct_ancestors":[{"relation_name":"is_a","term_name":"silver ion transmembrane transporter activity","termid":"GO:0015080"},{"relation_name":"is_a","term_name":"P-type ion transporter activity","termid":"GO:0015662"},{"relation_name":"is_a","term_name":"ATPase-coupled monoatomic cation transmembrane transporter activity","termid":"GO:0019829"}],"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:0005215","GO:0003674","GO:0022857"],"is_obsolete":false,"name":"P-type silver transporter activity","secondary_identifiers":["EC:7.2.2.15","MetaCyc:3.6.3.53-RXN"],"synonyms":[{"name":"ATP phosphohydrolase (Ag+-exporting)","type":"related"},{"name":"Ag+-exporting ATPase activity","type":"related"},{"name":"silver exporting ATPase activity","type":"exact"},{"name":"silver transmembrane transporter activity, phosphorylative mechanism","type":"exact"},{"name":"silver-exporting ATPase activity","type":"related"}],"termid":"GO:0015445"}


id: PBO:0076716
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"transcription factor 23","termid":"PBO:0076716"}


id: PBO:0066280
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 D, pseudogene","termid":"PBO:0066280"}


id: MONDO:1010659
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Thrombocytopenia that occurs in dog.","definition_xrefs":["MONDO:patterns/nonhuman_disease"],"direct_ancestors":[{"relation_name":"is_a","term_name":"thrombocytopenia, non-human animal","termid":"MONDO:1010080"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"thrombocytopenia, dog","secondary_identifiers":["OMIA:001001-9615"],"termid":"MONDO:1010659","xrefs":{"Monarch":{"xref_id":"1010659"}}}


id: FYPO:0002746
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-valine measured in the cell 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 cell during vegetative growth","termid":"FYPO:0001316"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000257"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0001312"}],"interesting_parent_ids":["FYPO:0000257","FYPO:0000002","FYPO:0001312","FYPO:0001320"],"is_obsolete":false,"name":"normal cellular valine level","synonyms":[{"name":"normal cellular L-valine level","type":"exact"},{"name":"normal cellular valine level during mitotic cell cycle","type":"related"},{"name":"normal cellular valine level during vegetative growth","type":"exact"},{"name":"normal level of valine in cell","type":"exact"}],"termid":"FYPO:0002746"}


id: GO:0047633
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: agmatine + ATP = N(4)-phosphoagmatine + ADP + 3 H+.","definition_xrefs":["EC:2.7.3.10","RHEA:15953"],"direct_ancestors":[{"relation_name":"is_a","term_name":"kinase activity","termid":"GO:0016301"},{"relation_name":"is_a","term_name":"phosphotransferase activity, nitrogenous group as acceptor","termid":"GO:0016775"}],"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:0016301"},{"rel_name":"is_a","termid":"GO:0016740"}],"interesting_parent_ids":["GO:0016301","GO:0016740","GO:0003824","GO:0003674"],"is_obsolete":false,"name":"agmatine kinase activity","secondary_identifiers":["MetaCyc:AGMATINE-KINASE-RXN","KEGG_REACTION:R01417"],"synonyms":[{"name":"ATP:agmatine 4-N-phosphotransferase activity","type":"related"},{"name":"ATP:agmatine N4-phosphotransferase activity","type":"related"},{"name":"phosphagen phosphokinase activity","type":"related"}],"termid":"GO:0047633"}


id: MONDO:0017215
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes itto die (necrosis). The most obvious and frequent symptom of calciphylaxis is damage to the skin, as ulcers can developand become infected easily. Calciphylaxis can also affect fat tissue, internal organs, and skeletal muscle, causing infections, pain, and organ failure.These symptoms are often irreversible, and many individuals with calciphylaxis may not survive more thana few months after they are diagnosed due to infection that spreads throughout the body (sepsis), or organ failure. The exact cause of calciphylaxis is unknown. Treatments may include medications to reduce pain, antibiotics to treat infections, and various approaches to preventing the development or worsening of this condition.","definition_xrefs":["GARD:0005980"],"direct_ancestors":[{"relation_name":"is_a","term_name":"calcinosis","termid":"MONDO:0002123"},{"relation_name":"is_a","term_name":"syndromic disease","termid":"MONDO:0002254"},{"relation_name":"is_a","term_name":"vascular disorder","termid":"MONDO:0005385"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005066"}],"interesting_parent_ids":["MONDO:0005066"],"is_obsolete":false,"name":"calciphylaxis","secondary_identifiers":["GARD:5980","icd11.foundation:574291789","ICD9:275.49","SCTID:237900002","MESH:D002115","MedDRA:10051714","MEDGEN:2404","UMLS:C0006666","DOID:4734","NCIT:C84607","Orphanet:280062"],"synonyms":[{"name":"idiopathic calciphylaxis","type":"related"}],"termid":"MONDO:0017215","xrefs":{"Monarch":{"xref_id":"0017215"}}}


id: PBO:0056203
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"MAGE family member A11","termid":"PBO:0056203"}


id: PR:O94548
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- SPCC1322.09 gene.","definition_xrefs":["PRO:DNx","UniProtKB:O94548"],"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":"maintenance of telomere capping protein 1 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPCC1322.09","synonyms":[{"name":"Spom972h-SPCC1322.09","type":"exact"}],"termid":"PR:O94548"}


id: GO:0048769
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process in which sarcomeres are added in series within a fiber.","definition_xrefs":["PMID:15947030","GOC:jid","GOC:lm"],"direct_ancestors":[{"relation_name":"is_a","term_name":"actomyosin structure organization","termid":"GO:0031032"},{"relation_name":"part_of","term_name":"myofibril assembly","termid":"GO:0030239"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"part_of","termid":"GO:0030036"},{"rel_name":"part_of","termid":"GO:0007010"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0030036"},{"rel_name":"is_a","termid":"GO:0007010"},{"rel_name":"part_of","termid":"GO:0044085"}],"interesting_parent_ids":["GO:0008150","GO:0030036","GO:0044085","GO:0007010"],"is_obsolete":false,"name":"sarcomerogenesis","synonyms":[{"name":"myofibril production","type":"exact"}],"termid":"GO:0048769"}


id: PR:O59669
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A zinc finger HIT domain-containing protein 1 that is encoded in the genome of Schizosaccharomyces pombe 972h-.","definition_xrefs":["PRO:DNx","OMA:SCHPO03105","PANTHER:PTHR13093:SF0"],"direct_ancestors":[{"relation_name":"is_a","term_name":"Schizosaccharomyces pombe 972h- protein","termid":"PR:000029043"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"SWR1 complex subunit vps71 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPBC29A3.05","secondary_identifiers":["UniProtKB:O59669"],"synonyms":[{"name":"Spom972h-ZNHIT1","type":"exact"}],"termid":"PR:O59669"}


id: SO:1000047
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"A chromosomal inversion that does not include the centromere.","definition_xrefs":["FB:reference_manual"],"direct_ancestors":[{"relation_name":"has_quality","term_name":"paracentric","termid":"SO:0001519"},{"relation_name":"is_a","term_name":"chromosomal_inversion","termid":"SO:1000030"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"paracentric_inversion","synonyms":[{"name":"paracentric inversion","type":"exact"}],"termid":"SO:1000047"}


id: PBO:0083025
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Deleted ORF; does not encode a protein; the YER186W-A was removed because it does not begin with a start codon or end with a stop codon, and has an in-frame internal stop codon (see the Locus History for more details)","termid":"PBO:0083025"}


id: GO:0061914
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that decreases the rate, frequency, or extent of the multiplication or reproduction of chondrocytes in a growing endochondral bone, resulting in the expansion of a cell population.","definition_xrefs":["PMID:19264869"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of growth plate cartilage chondrocyte proliferation","termid":"GO:0003420"},{"relation_name":"is_a","term_name":"negative regulation of cell population proliferation","termid":"GO:0008285"},{"relation_name":"is_a","term_name":"negative regulation of organ growth","termid":"GO:0046621"},{"relation_name":"negatively_regulates","term_name":"growth plate cartilage chondrocyte proliferation","termid":"GO:0003419"}],"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 growth plate cartilage chondrocyte proliferation","termid":"GO:0061914"}


id: GO:0031877
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Binding to a somatostatin receptor.","definition_xrefs":["GOC:nln","GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"neuropeptide receptor binding","termid":"GO:0071855"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005515"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0005488"}],"interesting_parent_ids":["GO:0005515","GO:0003674","GO:0005488"],"is_obsolete":false,"name":"somatostatin receptor binding","synonyms":[{"name":"somatostatin receptor ligand","type":"narrow"}],"termid":"GO:0031877"}


id: PBO:0086728
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Putative protein of unknown function; not an essential gene; YPL216W has a paralog, ITC1, that arose from the whole genome duplication","termid":"PBO:0086728"}


id: SO:0001974
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"A transcription factor binding site with consensus sequence CCGCGNGGNGGCAG, bound by CCCTF-binding factor.","definition_xrefs":["EBI:nj"],"direct_ancestors":[{"relation_name":"is_a","term_name":"promoter_element","termid":"SO:0001659"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"CTCF_binding_site","synonyms":[{"name":"CCCTF binding site","type":"exact"},{"name":"CTCF binding site","type":"exact"}],"termid":"SO:0001974"}


id: PBO:0042636
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"chromodomain protein Y-linked 11 pseudogene","termid":"PBO:0042636"}


id: GO:1903938
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 acrylamide stimulus.","definition_xrefs":["GO_REF:0000071","PMID:16292499","GOC:TermGenie"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cellular response to nitrogen compound","termid":"GO:1901699"},{"relation_name":"is_a","term_name":"cellular response to oxygen-containing compound","termid":"GO:1901701"},{"relation_name":"is_a","term_name":"response to acrylamide","termid":"GO:1903937"}],"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 acrylamide","termid":"GO:1903938"}


id: FYPO:0006210
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 RNA measured in a cell during a cellular response to copper ion starvation is lower than normal during spore germination. Total RNA or a specific RNA may be affected.","definition_xrefs":["PMID:28572514","PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"decreased RNA level during cellular response to copper ion starvation during vegetative growth","termid":"FYPO:0003280"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"output_of","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"output_of","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"output_of","termid":"FYPO:0006551"}],"interesting_parent_ids":["FYPO:0001320","FYPO:0001985","FYPO:0006551","FYPO:0005447","FYPO:0000002"],"is_obsolete":false,"name":"decreased RNA level during cellular response to copper ion starvation during spore germination","synonyms":[{"name":"decreased RNA accumulation during cellular response to copper ion starvation during spore germination","type":"related"},{"name":"decreased RNA level during cellular response to copper ion depletion during spore germination","type":"exact"},{"name":"decreased RNA level during cellular response to copper ion deprivation during spore germination","type":"exact"},{"name":"decreased RNA level during cellular response to copper ion starvation during spore germination during mitotic cell cycle","type":"related"},{"name":"decreased RNA level during cellular response to copper starvation during spore germination","type":"exact"},{"name":"decreased RNA level during copper ion starvation during spore germination","type":"exact"},{"name":"decreased mRNA level during cellular response to copper ion starvation during spore germination","type":"narrow"},{"name":"decreased transcript level during cellular response to copper ion starvation during spore germination","type":"exact"},{"name":"reduced RNA level during cellular response to copper ion starvation during spore germination","type":"exact"}],"termid":"FYPO:0006210"}


id: PBO:0069806
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U6 small nuclear 1092, pseudogene","termid":"PBO:0069806"}


id: PBO:0041936
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"CBX3 pseudogene 4","termid":"PBO:0041936"}


id: PBO:0017673
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Schizosaccharomyces specific protein New2","termid":"PBO:0017673"}


id: PBO:0045488
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Down syndrome critical region 4","termid":"PBO:0045488"}


id: MONDO:0022749
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A abnormal, congenital formation or mark on the skin or neighboring mucosa that does not show neoplastic growth.","definition_xrefs":["NCIT:C3937"],"direct_ancestors":[{"relation_name":"is_a","term_name":"skin disorder","termid":"MONDO:0005093"}],"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":"non-neoplastic nevus","secondary_identifiers":["SCTID:195381005","UMLS:C0265027","MEDGEN:78119","ICD9:448.1"],"synonyms":[{"name":"Non-Neoplastic Nevus","type":"related"},{"name":"Non-neoplastic nevus","type":"related"},{"name":"non-neoplastic nevus","type":"exact"}],"termid":"MONDO:0022749","xrefs":{"Monarch":{"xref_id":"0022749"}}}


id: PBO:0001677
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"mitochondrial pyruvate dehydrogenase (lipoamide) kinase Pkp1 (predicted)","termid":"PBO:0001677"}


id: GO:0060056
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The tissue remodeling that removes differentiated mammary epithelia during weaning.","definition_xrefs":["GOC:dph","PMID:15282149"],"direct_ancestors":[{"relation_name":"is_a","term_name":"tissue remodeling","termid":"GO:0048771"},{"relation_name":"part_of","term_name":"mammary gland morphogenesis","termid":"GO:0060443"}],"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":"mammary gland involution","termid":"GO:0060056"}


id: GO:0048347
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents, or reduces the frequency, rate or extent of paraxial mesoderm cell fate determination.","definition_xrefs":["GOC:dgh"],"direct_ancestors":[{"relation_name":"is_a","term_name":"negative regulation of mesodermal cell fate determination","termid":"GO:0048335"},{"relation_name":"is_a","term_name":"regulation of paraxial mesodermal cell fate determination","termid":"GO:0048345"},{"relation_name":"negatively_regulates","term_name":"paraxial mesodermal cell fate determination","termid":"GO:0048344"}],"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 paraxial mesodermal cell fate determination","synonyms":[{"name":"down regulation of paraxial mesodermal cell fate determination","type":"exact"},{"name":"down-regulation of paraxial mesodermal cell fate determination","type":"exact"},{"name":"downregulation of paraxial mesodermal cell fate determination","type":"exact"},{"name":"inhibition of paraxial mesodermal cell fate determination","type":"narrow"}],"termid":"GO:0048347"}


id: PBO:0044620
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"DCC netrin 1 receptor","termid":"PBO:0044620"}


id: PBO:0081108
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"zinc finger AN1-type containing 2A","termid":"PBO:0081108"}


id: PBO:0059032
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"matrix metallopeptidase 21","termid":"PBO:0059032"}


id: PBO:0052085
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"KAZN antisense RNA 1","termid":"PBO:0052085"}


id: PBO:0078452
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"T cell receptor gamma variable 5","termid":"PBO:0078452"}


id: PBO:0029028
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-abolished_protein_localization_to_mitotic_spindle_pole_body_during_interphase","termid":"PBO:0029028"}


id: PBO:0074191
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"solute carrier family 39 member 1","termid":"PBO:0074191"}


id: MONDO:0016919
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"syndrome caused by partial chromosomal deletion","termid":"MONDO:0000761"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"partial deletion of the long arm of chromosome 21","secondary_identifiers":["Orphanet:262173","GARD:20840","UMLS:C5679731","MEDGEN:1825976"],"synonyms":[{"name":"partial deletion of chromosome 21q","type":"exact"},{"name":"partial deletion of the long arm of chromosome type 21","type":"exact"},{"name":"partial monosomy of chromosome 21q","type":"exact"},{"name":"partial monosomy of the long arm of chromosome 21","type":"exact"}],"termid":"MONDO:0016919","xrefs":{"Monarch":{"xref_id":"0016919"}}}


id: GO:0034355
data:
  {"annotated_genes":["SJAG_01500","SJAG_03298"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[72568,81889],"is_not":false,"summary":null,"term":"GO:0034355"}]},"cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the formation of nicotinamide-adenine dinucleotide (NAD+) from vitamin B3 derivatives (including nicotinic acid (NA) and nicotinamide (NAM)), beta-nicotinamide D-ribonucleotide (NMN), nicotinamide riboside (NR) or nicotinate riboside (NAR), without de novo synthesis.","definition_xrefs":["PMID:12648681","GOC:sjm","PMID:27374990"],"direct_ancestors":[{"relation_name":"is_a","term_name":"NAD+ biosynthetic process","termid":"GO:0009435"},{"relation_name":"is_a","term_name":"pyridine nucleotide salvage","termid":"GO:0019365"},{"relation_name":"is_a","term_name":"purine nucleotide salvage","termid":"GO:0032261"}],"gene_count":2,"genes_by_uniquename":{"SJAG_01500":null,"SJAG_03298":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0044281"},{"rel_name":"is_a","termid":"GO:0055086"}],"interesting_parent_ids":["GO:0008150","GO:0044281","GO:0055086"],"is_obsolete":false,"name":"NAD+ biosynthetic process via the salvage pathway","references_by_uniquename":{"GO_REF:0000033":null},"synonyms":[{"name":"NAD biosynthetic process via the salvage pathway","type":"exact"},{"name":"NAD salvage","type":"exact"},{"name":"NAD salvage pathway","type":"exact"}],"termid":"GO:0034355","terms_by_termid":{"GO:0034355":null}}


id: PR:000000001
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"An amino acid chain that is produced de novo by ribosome-mediated translation of a genetically-encoded mRNA.","definition_xrefs":["PRO:DAN","PRO:WCB"],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"protein","termid":"PR:000000001"}


id: PBO:0117092
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"PRKCE antisense RNA 2","termid":"PBO:0117092"}


id: PBO:0000500
data:
  {"annotation_feature_type":"gene","cv_name":"EC numbers","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"3.4.24.59","termid":"PBO:0000500"}


id: PBO:0079848
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"unc-50 inner nuclear membrane RNA binding protein","termid":"PBO:0079848"}


id: PBO:0031195
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-accumulation_of_single-strand_break_sites","termid":"PBO:0031195"}


id: PBO:0072854
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"secretion associated Ras related GTPase 1A pseudogene 4","termid":"PBO:0072854"}


id: MONDO:0011035
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS).","definition_xrefs":["Orphanet:638"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"hyperpigmentation of the skin","termid":"MONDO:0019289"},{"relation_name":"excluded_subClassOf","term_name":"obsolete rare skin tumor or hamartoma (obsolete MONDO:0019300)","termid":"MONDO:0019300"},{"relation_name":"is_a","term_name":"developmental defect during embryogenesis","termid":"MONDO:0019755"},{"relation_name":"is_a","term_name":"RASopathy","termid":"MONDO:0021060"},{"relation_name":"is_a","term_name":"neurofibromatosis","termid":"MONDO:0021061"}],"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":"neurofibromatosis-Noonan syndrome","secondary_identifiers":["SCTID:715344006","OMIM:601321","MESH:C537393","GARD:372","MESH:D009456","DOID:0111683","icd11.foundation:679913930","UMLS:C2931482","MEDGEN:419089"],"synonyms":[{"name":"NFNS","type":"exact"},{"name":"Noonan neurofibromatosis syndrome","type":"related"},{"name":"Noonan-neurofibromatosis syndrome","type":"related"},{"name":"neurofibromatosis type 1-Noonan syndrome","type":"exact"},{"name":"neurofibromatosis with Noonan phenotype","type":"related"},{"name":"neurofibromatosis-Noonan syndrome","type":"exact"}],"termid":"MONDO:0011035","xrefs":{"Monarch":{"xref_id":"0011035"}}}


id: FYPO:0000857
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 nucleosome positioning in regions of euchromatin is normal (i.e. indistinguishable from wild type). Nucleosome positioning is the ordering of successions of nucleosomes into regular arrays so that nucleosomes are positioned at defined distances from one another.","definition_xrefs":["GO:0016584","PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"normal nucleosome positioning","termid":"FYPO:0000856"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0001312"},{"rel_name":"is_a","termid":"FYPO:0000257"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0001320"}],"interesting_parent_ids":["FYPO:0001312","FYPO:0001320","FYPO:0000257","FYPO:0000002"],"is_obsolete":false,"name":"normal nucleosome positioning in euchromatin","synonyms":[{"name":"normal nucleosome occupancy in euchromatin","type":"related"},{"name":"normal nucleosome positioning in euchromatin during mitotic cell cycle","type":"related"},{"name":"normal nucleosome positioning in euchromatin during vegetative growth","type":"exact"},{"name":"normal nucleosome spacing in euchromatin","type":"exact"}],"termid":"FYPO:0000857"}


id: MONDO:0035664
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"neuromyelitis optica","termid":"MONDO:0019100"},{"relation_name":"is_a","term_name":"myelin oligodendrocyte glycoprotein antibody-associated disease","termid":"MONDO:1040024"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005328"},{"rel_name":"is_a","termid":"MONDO:0005559"}],"interesting_parent_ids":["MONDO:0005559","MONDO:0005328"],"is_obsolete":false,"name":"neuromyelitis optica spectrum disorder with anti-MOG antibodies","secondary_identifiers":["Orphanet:592856","UMLS:C5680296","GARD:22373","ICD10CM:G36.0","MEDGEN:1843203","icd11.foundation:605048789"],"synonyms":[{"name":"NMOSD with anti-MOG antibodies","type":"exact"},{"name":"Neuromyelitis optica spectrum disorder with anti-myelin oligodendrocyte glycoprotein antibodies","type":"exact"}],"termid":"MONDO:0035664","xrefs":{"Monarch":{"xref_id":"0035664"}}}


id: MOD:01538
data:
  {"annotation_feature_type":"gene","cv_name":"PSI-MOD","definition":"A protein modification that effectively replaces the O4'-hydrogen atom of a tyrosine residue with the Applied Biosystems iTRAQ8plex-114 reporter+balance group.","definition_xrefs":["Unimod:730#Y"],"direct_ancestors":[{"relation_name":"is_a","term_name":"modified L-tyrosine residue","termid":"MOD:00919"},{"relation_name":"is_a","term_name":"iTRAQ8plex-114 reporter+balance reagent acylated residue","termid":"MOD:01535"},{"relation_name":"is_a","term_name":"iTRAQ8plex reporter+balance reagent O-acylated residue","termid":"MOD:01714"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"iTRAQ8plex-114 reporter+balance reagent O4'-acylated tyrosine","synonyms":[{"name":"(4-methylpiperazin-1-yl)acetyl","type":"exact"},{"name":"Applied Biosystems iTRAQ(TM) multiplexed quantitation chemistry","type":"related"},{"name":"Representative mass and accurate mass for 113, 114, 116 & 117","type":"related"},{"name":"iTRAQ8plex","type":"related"},{"name":"iTRAQ8plex:13C(7)15N(1)","type":"related"}],"termid":"MOD:01538"}


id: PBO:0070461
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein L4 pseudogene 4","termid":"PBO:0070461"}


id: PBO:0046038
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"eukaryotic translation initiation factor 2 subunit 2 beta pseudogene 6","termid":"PBO:0046038"}


id: GO:0044476
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"A process in which an organism inhibits or disrupts the activity of a low voltage-gated calcium channel in another organism via the action of a venom.","definition_xrefs":["GOC:jl","GOC:fj","PMID:20920515"],"direct_ancestors":[{"relation_name":"is_a","term_name":"venom-mediated inhibition of voltage-gated calcium channel activity","termid":"GO:0044474"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"venom-mediated inhibition of low voltage-gated calcium channel activity","synonyms":[{"name":"envenomation resulting in negative regulation of low voltage-gated calcium channel activity in another organism","type":"exact"},{"name":"envenomation resulting in negative regulation of low voltage-gated calcium channel activity in other organism","type":"exact"}],"termid":"GO:0044476"}


id: MONDO:0009436
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic.","direct_ancestors":[{"relation_name":"is_a","term_name":"Pallister-Hall syndrome","termid":"MONDO:0007804"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"congenital hypothalamic hamartoma syndrome","secondary_identifiers":["NCIT:C4385","icd11.foundation:2057991470","Orphanet:2113","MEDGEN:137970","OMIM:241800","ICD9:759.6","MESH:C537158","SCTID:237714006","GARD:2934","UMLS:C0342418"],"synonyms":[{"name":"Pallister-Hall-like syndrome","type":"exact"},{"name":"congenital hypothalamic hamartoma syndrome","type":"exact"},{"name":"hamartoma of hypothalamus","type":"exact"},{"name":"hamartoma of the hypothalamus","type":"related"},{"name":"hypothalamic hamartoma","type":"exact"},{"name":"hypothalamic hamartomas","type":"exact"}],"termid":"MONDO:0009436","xrefs":{"Monarch":{"xref_id":"0009436"}}}


id: GO:0008611
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the formation of ether lipids, lipids that contain (normally) one lipid alcohol in ether linkage to one of the carbon atoms (normally C-1) of glycerol.","definition_xrefs":["GOC:ma","ISBN:0198547684","PMID:15337120"],"direct_ancestors":[{"relation_name":"is_a","term_name":"lipid biosynthetic process","termid":"GO:0008610"},{"relation_name":"is_a","term_name":"ether lipid metabolic process","termid":"GO:0046485"},{"relation_name":"is_a","term_name":"glycerol ether biosynthetic process","termid":"GO:0046504"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0044281"},{"rel_name":"is_a","termid":"GO:0006629"}],"interesting_parent_ids":["GO:0044281","GO:0008150","GO:0006629"],"is_obsolete":false,"name":"ether lipid biosynthetic process","secondary_identifiers":["Reactome:R-HSA-75896"],"synonyms":[{"name":"ether lipid anabolism","type":"exact"},{"name":"ether lipid biosynthesis","type":"exact"},{"name":"ether lipid formation","type":"exact"},{"name":"ether lipid synthesis","type":"exact"},{"name":"plasmalogen biosynthetic process","type":"narrow"}],"termid":"GO:0008611"}


id: GO:0141113
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents, or reduces the frequency, rate or extent of the Wnt signaling pathway, planar cell polarity pathway.","definition_xrefs":["PMID:19056682"],"direct_ancestors":[{"relation_name":"is_a","term_name":"negative regulation of non-canonical Wnt signaling pathway","termid":"GO:2000051"},{"relation_name":"is_a","term_name":"regulation of Wnt signaling pathway, planar cell polarity pathway","termid":"GO:2000095"},{"relation_name":"negatively_regulates","term_name":"Wnt signaling pathway, planar cell polarity pathway","termid":"GO:0060071"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"negatively_regulates","termid":"GO:0023052"},{"rel_name":"regulates","termid":"GO:0023052"}],"interesting_parent_ids":["GO:0008150","GO:0023052"],"is_obsolete":false,"name":"negative regulation of Wnt signaling pathway, planar cell polarity pathway","termid":"GO:0141113"}


id: PBO:0112692
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"cytochrome-b5 reductase activity/ NAD(P)H-dependent reductase for Dph3, Cbr1","termid":"PBO:0112692"}


id: GO:0045703
data:
  {"annotated_genes":["SJAG_00630"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[70586],"is_not":false,"summary":null,"term":"GO:0045703"}]},"cv_name":"molecular_function","definition":"Catalysis of the reduction of a ketone group to form the corresponding alcohol.","definition_xrefs":["GOC:curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"oxidoreductase activity, acting on CH-OH group of donors","termid":"GO:0016614"}],"gene_count":1,"genes_by_uniquename":{"SJAG_00630":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0016491"},{"rel_name":"is_a","termid":"GO:0003824"}],"interesting_parent_ids":["GO:0003824","GO:0016491","GO:0003674"],"is_obsolete":false,"name":"ketoreductase activity","references_by_uniquename":{"GO_REF:0000002":null},"termid":"GO:0045703","terms_by_termid":{"GO:0045703":null}}


id: GO:0070734
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. The modification of histone H3 by addition of one or more methyl groups to lysine at position 27 of the histone.","definition_xrefs":["GOC:mah","GOC:pr"],"gene_count":0,"genotype_count":0,"name":"obsolete histone H3-K27 methylation (obsolete GO:0070734)","synonyms":[{"name":"histone H3 K27 methylation","type":"exact"},{"name":"histone H3K27me","type":"exact"},{"name":"histone lysine H3 K27 methylation","type":"exact"}],"termid":"GO:0070734"}


id: GO:2000002
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents, or reduces the frequency, rate or extent of a DNA damage checkpoint.","definition_xrefs":["GOC:BHF","GOC:obol"],"direct_ancestors":[{"relation_name":"is_a","term_name":"negative regulation of cell cycle checkpoint","termid":"GO:1901977"},{"relation_name":"is_a","term_name":"regulation of DNA damage checkpoint","termid":"GO:2000001"},{"relation_name":"negatively_regulates","term_name":"DNA damage checkpoint signaling","termid":"GO:0000077"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"negatively_regulates","termid":"GO:0023052"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"regulates","termid":"GO:0007049"},{"rel_name":"regulates","termid":"GO:0023052"},{"rel_name":"positively_regulates","termid":"GO:0007049"}],"interesting_parent_ids":["GO:0023052","GO:0007049","GO:0008150"],"is_obsolete":false,"name":"negative regulation of DNA damage checkpoint","synonyms":[{"name":"negative regulation of DNA damage response, signal transduction resulting in cell cycle arrest","type":"related"}],"termid":"GO:2000002"}


id: MONDO:0000958
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Neuroretinitis is an inflammation of the neural retina and optic nerve. Pathology: Direct invasion or autoimmune activation against the optic nerve may cause optic nerve vascular inflammation with secondary inflammation and edema in the nerve fiber layer of the retina.","direct_ancestors":[{"relation_name":"is_a","term_name":"neuritis","termid":"MONDO:0002122"},{"relation_name":"is_a","term_name":"retinal nerve fiber layer disorder","termid":"MONDO:0003579"},{"relation_name":"is_a","term_name":"optic papillitis","termid":"MONDO:0006879"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005244"},{"rel_name":"is_a","termid":"MONDO:0005328"}],"interesting_parent_ids":["MONDO:0005244","MONDO:0005328"],"is_obsolete":false,"name":"neuroretinitis","secondary_identifiers":["ICD9:363.05","MESH:D012173","UMLS:C0154874","DOID:10176","MEDGEN:57826","icd11.foundation:418437487"],"synonyms":[{"name":"Juxtapapillary focal retinitis and retinochoroiditis","type":"narrow"},{"name":"focal retinitis and retinochoroiditis, juxtapapillary","type":"narrow"},{"name":"papilloretinitis","type":"narrow"}],"termid":"MONDO:0000958","xrefs":{"Monarch":{"xref_id":"0000958"}}}


id: PBO:0001298
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"protein disulfide isomerase","termid":"PBO:0001298"}


id: MONDO:0004386
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"An adenomyoma that arises from the uterine corpus and is characterized by the presence of marked glandular architectural complexity. It may recur following excision.","definition_xrefs":["NCIT:P378"],"direct_ancestors":[{"relation_name":"is_a","term_name":"atypical polypoid adenomyoma","termid":"MONDO:0003236"},{"relation_name":"is_a","term_name":"adenomyoma of uterine corpus","termid":"MONDO:0003237"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"uterine corpus atypical polypoid adenomyoma","secondary_identifiers":["DOID:7878","MEDGEN:276937","UMLS:C1519844","NCIT:C40235"],"synonyms":[{"name":"atypical polypoid adenomyoma of body of uterus","type":"exact"},{"name":"body of uterus atypical polypoid adenomyoma","type":"exact"}],"termid":"MONDO:0004386","xrefs":{"Monarch":{"xref_id":"0004386"}}}


id: PBO:0050779
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"5-hydroxytryptamine receptor 1D","termid":"PBO:0050779"}


id: MOD:01094
data:
  {"annotation_feature_type":"gene","cv_name":"PSI-MOD","definition":"A protein modification that effectively converts an L-lysine residue to N6-carboxymethyl-L-lysine.","definition_xrefs":["DeltaMass:237","Unimod:6#K"],"direct_ancestors":[{"relation_name":"is_a","term_name":"iodoacetic acid derivatized residue","termid":"MOD:00399"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"N6-carboxymethyl-L-lysine","synonyms":[{"name":"Carboxymethyl","type":"related"},{"name":"Carboxymethyl Lysyl","type":"exact"},{"name":"Iodoacetic acid derivative","type":"related"}],"termid":"MOD:01094"}


id: PBO:0028159
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-increased_5.8S_rRNA_level","termid":"PBO:0028159"}


id: PBO:0058473
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 5581","termid":"PBO:0058473"}


id: GO:0003046
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The intrinsic circulatory process resulting from stress relaxation that modulates the force with which blood travels through the systemic arterial circulatory system. Stress relaxation is the adaptation of vessels to a new size as a result of changes in pressure in storage areas such as veins, the liver, the spleen, and the lungs.","definition_xrefs":["ISBN:0721643949","GOC:mtg_cardio"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of systemic arterial blood pressure by physical factors","termid":"GO:0003045"},{"relation_name":"is_a","term_name":"negative regulation of systemic arterial blood pressure","termid":"GO:0003085"}],"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 systemic arterial blood pressure by stress relaxation","synonyms":[{"name":"blood pressure regulation by stress relaxation","type":"exact"}],"termid":"GO:0003046"}


id: GO:1904252
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents or reduces the frequency, rate or extent of bile acid metabolic process.","definition_xrefs":["GO_REF:0000058","GOC:bf","GOC:TermGenie"],"direct_ancestors":[{"relation_name":"is_a","term_name":"negative regulation of steroid metabolic process","termid":"GO:0045939"},{"relation_name":"is_a","term_name":"negative regulation of small molecule metabolic process","termid":"GO:0062014"},{"relation_name":"is_a","term_name":"regulation of bile acid metabolic process","termid":"GO:1904251"},{"relation_name":"negatively_regulates","term_name":"bile acid metabolic process","termid":"GO:0008206"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"negatively_regulates","termid":"GO:0006629"},{"rel_name":"regulates","termid":"GO:0006629"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"negatively_regulates","termid":"GO:0044281"},{"rel_name":"regulates","termid":"GO:0044281"}],"interesting_parent_ids":["GO:0006629","GO:0044281","GO:0008150"],"is_obsolete":false,"name":"negative regulation of bile acid metabolic process","synonyms":[{"name":"down regulation of bile acid metabolic process","type":"exact"},{"name":"down regulation of bile acid metabolism","type":"exact"},{"name":"down-regulation of bile acid metabolic process","type":"exact"},{"name":"down-regulation of bile acid metabolism","type":"exact"},{"name":"downregulation of bile acid metabolic process","type":"exact"},{"name":"downregulation of bile acid metabolism","type":"exact"},{"name":"inhibition of bile acid metabolic process","type":"narrow"},{"name":"inhibition of bile acid metabolism","type":"narrow"},{"name":"negative regulation of bile acid metabolism","type":"exact"}],"termid":"GO:1904252"}


id: SO:0001868
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"A candidate gene whose association with a trait is based on the gene's location on a chromosome.","definition_xrefs":["GMOD:ea"],"direct_ancestors":[{"relation_name":"is_a","term_name":"candidate_gene","termid":"SO:0001867"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"positional_candidate_gene","synonyms":[{"name":"positional candidate gene","type":"exact"},{"name":"positional target gene","type":"related"}],"termid":"SO:0001868"}


id: MONDO:1010948
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Non-hodgkin lymphoma that occurs in dog.","definition_xrefs":["MONDO:patterns/nonhuman_disease"],"direct_ancestors":[{"relation_name":"is_a","term_name":"canine lymphoma","termid":"MONDO:0700145"},{"relation_name":"is_a","term_name":"non-hodgkin lymphoma, non-human animal","termid":"MONDO:1010214"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"non-hodgkin lymphoma, dog","secondary_identifiers":["OMIA:001708-9615"],"termid":"MONDO:1010948","xrefs":{"Monarch":{"xref_id":"1010948"}}}


id: MONDO:0010774
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"familial infantile bilateral striatal necrosis","termid":"MONDO:0010080"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0021179"},{"rel_name":"is_a","termid":"MONDO:0005559"},{"rel_name":"is_a","termid":"MONDO:0005066"}],"interesting_parent_ids":["MONDO:0005066","MONDO:0005559","MONDO:0021179"],"is_obsolete":false,"name":"striatonigral degeneration, infantile, mitochondrial","secondary_identifiers":["MESH:C564025","UMLS:C1839022","GARD:18315","MEDGEN:374113","OMIM:500003"],"synonyms":[{"name":"bilateral striatal Necrosis, infantile, mitochondrial","type":"related"},{"name":"infantile bilateral striatal Necrosis, mitochondrial","type":"related"},{"name":"striatonigral degeneration, infantile, mitochondrial","type":"exact"}],"termid":"MONDO:0010774","xrefs":{"Monarch":{"xref_id":"0010774"}}}


id: MONDO:0007139
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete Antipyrine metabolism (obsolete MONDO:0007139)","secondary_identifiers":["OMIM:107290"],"synonyms":[{"name":"antipyrine metabolism","type":"exact"}],"termid":"MONDO:0007139","xrefs":{"Monarch":{"xref_id":"0007139"}}}


id: PBO:0051483
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"immunoglobulin lambda variable (VII)-41-1 (pseudogene)","termid":"PBO:0051483"}


id: PBO:0055863
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"LDL receptor related protein 10","termid":"PBO:0055863"}


id: MONDO:1012548
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"dynamic laryngeal collapse, non-human animal","termid":"MONDO:1011934"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"dynamic laryngeal collapse, horse","secondary_identifiers":["OMIA:002417-9796"],"termid":"MONDO:1012548","xrefs":{"Monarch":{"xref_id":"1012548"}}}


id: PBO:0056051
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"LUC7 like","termid":"PBO:0056051"}


id: PBO:0077772
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"translocase of outer mitochondrial membrane 40","termid":"PBO:0077772"}


id: MONDO:0016495
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete functional variant of Guillain-Barre syndrome (obsolete MONDO:0016495)","secondary_identifiers":["Orphanet:231419"],"synonyms":[{"name":"functional variant of GBS","type":"exact"},{"name":"functional variant of Guillain-Barré syndrome","type":"related"}],"termid":"MONDO:0016495","xrefs":{"Monarch":{"xref_id":"0016495"}}}


id: RO:0002206
data:
  {"annotation_feature_type":"gene","cv_name":"relationship","definition":"x expressed in y if and only if there is a gene expression process (GO:0010467) that occurs in y, and one of the following holds: (i) x is a gene, and x is transcribed into a transcript as part of the gene expression process (ii) x is a transcript, and the transcription of x is part of the gene expression process (iii) x is a mature gene product such as a protein, and x was translated or otherwise processes from a transcript that was transcribed as part of this gene expression process","direct_ancestors":[{"relation_name":"is_a","term_name":"genomically_related_to","termid":"RO:0002330"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"expressed_in","termid":"RO:0002206"}


id: GO:0075206
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. Any process in which the host organism activates, maintains or increases the frequency, rate or extent of cAMP-mediated signal transduction in the symbiont organism. The host is defined as the larger of the organisms involved in a symbiotic interaction.","definition_xrefs":["GOC:pamgo_curators"],"gene_count":0,"genotype_count":0,"name":"obsolete positive regulation by host of symbiont cAMP-mediated signal transduction (obsolete GO:0075206)","synonyms":[{"name":"positive regulation by host of symbiont cAMP-mediated signaling","type":"exact"}],"termid":"GO:0075206"}


id: PBO:0074280
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"SLIT1 antisense RNA 1","termid":"PBO:0074280"}


id: MONDO:0015819
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"immune system cancer","termid":"MONDO:0000621"},{"relation_name":"is_a","term_name":"primary cutaneous B-cell lymphoma","termid":"MONDO:0015820"},{"relation_name":"is_a","term_name":"indolent B-cell non-Hodgkin lymphoma","termid":"MONDO:0017594"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005093"},{"rel_name":"is_a","termid":"MONDO:0004992"},{"rel_name":"is_a","termid":"MONDO:0005046"},{"rel_name":"is_a","termid":"MONDO:0005570"}],"interesting_parent_ids":["MONDO:0005093","MONDO:0005046","MONDO:0005570","MONDO:0004992"],"is_obsolete":false,"name":"indolent primary cutaneous B-cell lymphoma","secondary_identifiers":["UMLS:C5680499","GARD:20164","MEDGEN:1843003","Orphanet:178557"],"termid":"MONDO:0015819","xrefs":{"Monarch":{"xref_id":"0015819"}}}


id: MONDO:0000713
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete Balo concentric sclerosis (obsolete MONDO:0000713)","termid":"MONDO:0000713","xrefs":{"Monarch":{"xref_id":"0000713"}}}


id: FYPO:0003083
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cellular process phenotype observed in the vegetative growth phase of the life cycle in which replication fork arrest at the mating-type locus is abnormal.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal replication fork arrest","termid":"FYPO:0003088"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0000293"}],"interesting_parent_ids":["FYPO:0005447","FYPO:0001985","FYPO:0001320","FYPO:0000293","FYPO:0000002"],"is_obsolete":false,"name":"abnormal replication fork arrest at mating-type locus","synonyms":[{"name":"abnormal replication fork arrest at mating-type locus during mitotic cell cycle","type":"related"},{"name":"abnormal replication fork arrest at mating-type locus during vegetative growth","type":"exact"}],"termid":"FYPO:0003083"}


id: PBO:0058251
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 4538","termid":"PBO:0058251"}


id: MONDO:0017469
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"disorder of development or morphogenesis","termid":"MONDO:0021147"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"congenital elbow dislocation","secondary_identifiers":["UMLS:C0265561","MEDGEN:539330","Orphanet:295032","GARD:21210","icd11.foundation:1593186141"],"synonyms":[{"name":"congenital radial head dislocation","type":"exact"},{"name":"isolated congenital elbow dislocation","type":"exact"},{"name":"isolated congenital radial head dislocation","type":"related"}],"termid":"MONDO:0017469","xrefs":{"Monarch":{"xref_id":"0017469"}}}


id: PBO:0034355
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-increases_expression_of","termid":"PBO:0034355"}


id: MONDO:0009633
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"LTBP2-related ocular dysgenesis","termid":"MONDO:0100236"}],"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":"microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma","secondary_identifiers":["UMLS:C3538951","MEDGEN:761238","OMIM:251750"],"synonyms":[{"name":"MSPKA","type":"related"},{"name":"microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma","type":"exact"}],"termid":"MONDO:0009633","xrefs":{"Monarch":{"xref_id":"0009633"}}}


id: PBO:0091908
data:
  {"annotation_feature_type":"gene","cv_name":"misc","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Pil1 undergoes fast single-molecule exchange at eisosome ends","termid":"PBO:0091908"}


id: PBO:0109031
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"KBTBD6 divergent transcript","termid":"PBO:0109031"}


id: PBO:0042503
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"cadherin related 23","termid":"PBO:0042503"}


id: PBO:0000659
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ENTH/VHS domain protein (predicted)","termid":"PBO:0000659"}


id: PBO:0045242
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"DnaJ heat shock protein family (Hsp40) member C21","termid":"PBO:0045242"}


id: PBO:0044859
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"delta 4-desaturase, sphingolipid 2","termid":"PBO:0044859"}


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: GO:1904424
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. Any process that modulates the frequency, rate or extent of GTP binding.","definition_xrefs":["GOC:TermGenie","PMID:21454546","PMID:19066305","GO_REF:0000059"],"gene_count":0,"genotype_count":0,"name":"obsolete regulation of GTP binding (obsolete GO:1904424)","termid":"GO:1904424"}


id: MONDO:1012238
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"renal nephropathy, non-human animal","termid":"MONDO:1011912"},{"relation_name":"is_a","term_name":"renal disease, dog","termid":"MONDO:1012235"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"renal nephropathy, dog","secondary_identifiers":["OMIA:000860-9615"],"termid":"MONDO:1012238","xrefs":{"Monarch":{"xref_id":"1012238"}}}


id: PBO:0026880
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-abnormal_RITS_complex_assembly","termid":"PBO:0026880"}


id: PBO:0031585
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_G418","termid":"PBO:0031585"}


id: PBO:0064808
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"protein phosphatase 1 regulatory inhibitor subunit 2","termid":"PBO:0064808"}


id: PBO:0067227
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, 7SL, cytoplasmic 297, pseudogene","termid":"PBO:0067227"}


id: GO:0098697
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Any ryanodine-sensitive calcium-release channel activity that is involved in regulation of postsynaptic cytosolic calcium ion concentration.","definition_xrefs":["GOC:dos"],"direct_ancestors":[{"relation_name":"is_a","term_name":"ryanodine-sensitive calcium-release channel activity","termid":"GO:0005219"},{"relation_name":"is_a","term_name":"calcium-induced calcium release activity involved in regulation of postsynaptic cytosolic calcium ion concentration","termid":"GO:1905058"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0022857"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0005215"}],"interesting_parent_ids":["GO:0022857","GO:0003674","GO:0005215"],"is_obsolete":false,"name":"ryanodine-sensitive calcium-release channel activity involved in regulation of postsynaptic cytosolic calcium levels","termid":"GO:0098697"}


id: PBO:0052275
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"lysine demethylase 5C","termid":"PBO:0052275"}


id: PBO:0084261
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Integral ER membrane protein, regulates phospholipid metabolism; one of 6 proteins (Ist2p, Scs2p, Scs22p, Tcb1p, Tcb2p, Tcb3p) that connect ER to plasma membrane (PM) and regulate PI4P levels by controlling access of Sac1p phosphatase to substrate PI4P in the PM; interacts with FFAT motifs in Opi1p, Swh1p, Osh2p, and Osh3p; involved in telomeric silencing; VAP homolog; SCS2 has a paralog, SCS22, that arose from the whole genome duplication","termid":"PBO:0084261"}


id: FYPO:0007919
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 alternative polyadenylation of RNA is abnormal. RNA alternative polyadenylation generates RNA molecules with variable 3'-end lengths from a given RNA by differential use of cleavage and polyadenylation signals. Includes differences in the relative usage levels of alternative polyadenylation sites.","direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal RNA processing","termid":"FYPO:0001553"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0006551"},{"rel_name":"is_a","termid":"FYPO:0000294"}],"interesting_parent_ids":["FYPO:0001320","FYPO:0005447","FYPO:0000002","FYPO:0006551","FYPO:0000294","FYPO:0001985"],"is_obsolete":false,"name":"abnormal RNA alternative polyadenylation","termid":"FYPO:0007919"}


id: PBO:0108916
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"STAG3 cohesin complex component like 2 (pseudogene)","termid":"PBO:0108916"}


id: PBO:0086589
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Putative protein of unknown function; exhibits a two-hybrid interaction with Yhr151cp in a large-scale analysis","termid":"PBO:0086589"}


id: SO:0001522
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"When a translocation is simply moving genetic material from one chromosome to another.","direct_ancestors":[{"relation_name":"is_a","term_name":"translocaton_attribute","termid":"SO:0001520"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"insertional","termid":"SO:0001522"}


id: SO:0000373
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"A recombinationally rearranged gene by inversion.","definition_xrefs":["SO:xp"],"direct_ancestors":[{"relation_name":"has_quality","term_name":"inversion","termid":"SO:1000036"},{"relation_name":"is_a","term_name":"recombinationally_rearranged_gene","termid":"SO:0000456"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"recombinationally_inverted_gene","synonyms":[{"name":"recombinationally inverted gene","type":"exact"}],"termid":"SO:0000373"}


id: FYECO:0000070
data:
  {"annotation_feature_type":"gene","cv_name":"fission_yeast_phenotype_condition","definition":"Uracil was absent from the experiment.","definition_xrefs":["PomBase:al"],"gene_count":0,"genotype_count":0,"name":"OBSOLETE FYECO:0000070 absence of uracil (obsolete FYECO:0000070)","termid":"FYECO:0000070"}


id: GO:0031500
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"A high molecular weight complex characterized in S. pombe containing the cell-end anchoring protein Tea1. This complex is transported to the cell ends by microtubules and is involved in bipolar growth and the maintennce of normal cell polarity.","definition_xrefs":["PMID:15936270"],"direct_ancestors":[{"relation_name":"is_a","term_name":"microtubule associated complex","termid":"GO:0005875"},{"relation_name":"part_of","term_name":"polarisome","termid":"GO:0000133"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005575"},{"rel_name":"part_of","termid":"GO:0005737"},{"rel_name":"part_of","termid":"GO:0015630"},{"rel_name":"is_a","termid":"GO:0032991"},{"rel_name":"part_of","termid":"GO:0005938"},{"rel_name":"part_of","termid":"GO:0032991"}],"interesting_parent_ids":["GO:0032991","GO:0005737","GO:0005575","GO:0015630","GO:0005938"],"is_obsolete":false,"name":"Tea1 cell-end complex","termid":"GO:0031500"}


id: MONDO:0010409
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"X-linked intellectual disability, Shrimpton type is characterized by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localized to the q12-Xq21.31 region of the X-chromosome.","definition_xrefs":["Orphanet:85324"],"direct_ancestors":[{"relation_name":"is_a","term_name":"X-linked syndromic intellectual disability","termid":"MONDO:0020119"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"syndromic X-linked intellectual disability Shrimpton type","secondary_identifiers":["DOID:0060813","MESH:C567474","GARD:16751","MEDGEN:395523","OMIM:300709","UMLS:C2678039"],"synonyms":[{"name":"MRXS9","type":"exact"},{"name":"X-linked intellectual disability, Shrimpton type","type":"related"},{"name":"intellectual disability, X-linked, syndromic 9","type":"exact"},{"name":"mental retardation, X-linked, syndromic 9","type":"exact"}],"termid":"MONDO:0010409","xrefs":{"Monarch":{"xref_id":"0010409"}}}


id: PBO:0067301
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, 7SL, cytoplasmic 386, pseudogene","termid":"PBO:0067301"}


id: MONDO:0012871
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"Jervell and Lange-Nielsen syndrome","termid":"MONDO:0002441"},{"relation_name":"is_a","term_name":"long QT syndrome 5","termid":"MONDO:0013372"}],"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":"Jervell and Lange-Nielsen syndrome 2","secondary_identifiers":["MEDGEN:394108","UMLS:C2676723","GARD:10364","MESH:C567343","OMIM:612347"],"synonyms":[{"name":"JLNS2","type":"related"},{"name":"Jervell and Lange-Nielsen syndrome 2","type":"exact"},{"name":"Jervell and Lange-Nielsen syndrome caused by mutation in KCNE1","type":"exact"},{"name":"Jervell and Lange-Nielsen syndrome type 2","type":"exact"},{"name":"KCNE1 Jervell and Lange-Nielsen syndrome","type":"exact"}],"termid":"MONDO:0012871","xrefs":{"Monarch":{"xref_id":"0012871"}}}


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


id: PBO:0028423
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-RNA_absent_from_cell_during_meiosis","termid":"PBO:0028423"}


id: PBO:0080734
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"WWOX antisense RNA 1","termid":"PBO:0080734"}


id: MONDO:0006532
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A cholesteatoma (disease) that involves the external ear.","definition_xrefs":["MONDO:patterns/location"],"direct_ancestors":[{"relation_name":"is_a","term_name":"external ear disorder","termid":"MONDO:0002776"},{"relation_name":"is_a","term_name":"cholesteatoma","termid":"MONDO:0006530"}],"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":"cholesteatoma of external ear","secondary_identifiers":["ICD10CM:H60.4","DOID:9462","SCTID:35247001","UMLS:C0155398","ICD9:380.21","EFO:1000677","MEDGEN:509952"],"synonyms":[{"name":"cholesteatoma (disease) of external ear","type":"exact"},{"name":"external canal cholesteatoma","type":"exact"},{"name":"external ear cholesteatoma (disease)","type":"exact"}],"termid":"MONDO:0006532","xrefs":{"Monarch":{"xref_id":"0006532"}}}


id: SO:0001167
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"A non directional promoter motif with consensus CGMYGYCR.","definition_xrefs":["PMID:16827941"],"direct_ancestors":[{"relation_name":"is_a","term_name":"promoter_element","termid":"SO:0001659"},{"relation_name":"part_of","term_name":"RNApol_II_promoter","termid":"SO:0000170"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"NDM2_motif","synonyms":[{"name":"NDM2","type":"exact"},{"name":"NDM2 motif","type":"exact"},{"name":"non directional promoter motif 2","type":"exact"}],"termid":"SO:0001167"}


id: MONDO:0035009
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"thrombotic disease","termid":"MONDO:0000831"},{"relation_name":"is_a","term_name":"vein disorder","termid":"MONDO:0004634"},{"relation_name":"is_a","term_name":"intestinal disorder","termid":"MONDO:0005020"}],"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":"isolated mesenteric vein thrombosis","secondary_identifiers":["icd11.foundation:213868120","Orphanet:583861","GARD:22339"],"termid":"MONDO:0035009","xrefs":{"Monarch":{"xref_id":"0035009"}}}


id: PBO:0068650
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U4 small nuclear 31, pseudogene","termid":"PBO:0068650"}


id: FYPO:0002810
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cell population phenotype in which the septation index is normal (i.e. indistinguishable from wild type) in a population in stationary phase. The septation index is the proportion of the population undergoing septation at any given time.","definition_xrefs":["PomBase:mah","PomBase:vw"],"direct_ancestors":[{"relation_name":"is_a","term_name":"normal septation index","termid":"FYPO:0001903"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000257"},{"rel_name":"is_a","termid":"FYPO:0000003"}],"interesting_parent_ids":["FYPO:0000257","FYPO:0000003"],"is_obsolete":false,"name":"normal septation index in stationary phase","synonyms":[{"name":"normal septation in stationary phase","type":"related"},{"name":"normal septation index during stationary phase","type":"exact"}],"termid":"FYPO:0002810"}


id: PR:O74549
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A NEDD8-conjugating enzyme Ubc12 that is encoded in the genome of Schizosaccharomyces pombe 972h-.","definition_xrefs":["PRO:DNx","PANTHER:PTHR24067:SF17","OMA:SCHPO04749"],"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":"NEDD8-conjugating enzyme ubc12 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPCC777.10c","secondary_identifiers":["UniProtKB:O74549"],"synonyms":[{"name":"RUB1-conjugating enzyme (Schizosaccharomyces pombe 972h-)","type":"exact"},{"name":"RUB1-protein ligase (Schizosaccharomyces pombe 972h-)","type":"exact"},{"name":"Spom972h-UBE2M","type":"exact"},{"name":"ubiquitin carrier protein 12 (Schizosaccharomyces pombe 972h-)","type":"exact"}],"termid":"PR:O74549"}


id: PATO:0002098
data:
  {"annotation_feature_type":"gene","cv_name":"quality","definition":"A disposition inhering in a tumour by virtue of the bearer's disposition to spread and invade distant tissues.","definition_xrefs":["PATOC:GVG"],"direct_ancestors":[{"relation_name":"is_a","term_name":"neoplastic","termid":"PATO:0002011"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"neoplastic, metastatic","termid":"PATO:0002098"}


id: PBO:0052107
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"KCNAB1 antisense RNA 1","termid":"PBO:0052107"}


id: MONDO:0013127
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 DYNC2H1 gene on chromosome 11q22.","definition_xrefs":["PMID:19442771","DOID:0110087"],"direct_ancestors":[{"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":"asphyxiating thoracic dystrophy 3","secondary_identifiers":["DOID:0050549","Orphanet:93270","UMLS:C0036069","ICD9:759.89","MEDGEN:19860","GARD:15613","SCTID:27330009","NCIT:C163755","SCTID:254051008","MESH:C537602","Orphanet:93271","OMIM:613091"],"synonyms":[{"name":"ATD3","type":"exact"},{"name":"DYNC2H1-related short rib thoracic dysplasia","type":"exact"},{"name":"SRPS type 1","type":"exact"},{"name":"SRPS type 3","type":"exact"},{"name":"SRPS1","type":"exact"},{"name":"SRPS2B","type":"exact"},{"name":"SRPS3","type":"exact"},{"name":"SRTD3","type":"exact"},{"name":"Saldino-Noonan syndrome","type":"exact"},{"name":"Verma-Naumoff syndrome","type":"exact"},{"name":"asphyxiating thoracic dystrophy 3","type":"exact"},{"name":"asphyxiating thoracic dystrophy type 3","type":"exact"},{"name":"polydactyly with neonatal chondrodystrophy type 1","type":"exact"},{"name":"polydactyly with neonatal chondrodystrophy type III","type":"exact"},{"name":"polydactyly with neonatal chondrodystrophy, type 3","type":"exact"},{"name":"polydactyly with neonatal chondrodystrophy, type I","type":"exact"},{"name":"short rib polydactyly syndrome Verma Naumoff type","type":"exact"},{"name":"short rib-polydactyly syndrome Saldino-Noonan type","type":"exact"},{"name":"short rib-polydactyly syndrome type 1","type":"exact"},{"name":"short rib-polydactyly syndrome type 3","type":"exact"},{"name":"short rib-polydactyly syndrome type III","type":"exact"},{"name":"short rib-polydactyly syndrome, type 2B","type":"exact"},{"name":"short rib-polydactyly syndrome, type IIB","type":"exact"},{"name":"short-rib thoracic dysplasia 3 with or without polydactyly","type":"exact"},{"name":"type I short rib polydactyly syndrome","type":"exact"}],"termid":"MONDO:0013127","xrefs":{"Monarch":{"xref_id":"0013127"}}}


id: GO:0001531
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Binding to an interleukin-21 receptor.","definition_xrefs":["GOC:ai"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cytokine receptor binding","termid":"GO:0005126"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0005515"},{"rel_name":"is_a","termid":"GO:0005488"}],"interesting_parent_ids":["GO:0005488","GO:0005515","GO:0003674"],"is_obsolete":false,"name":"interleukin-21 receptor binding","synonyms":[{"name":"IL-21","type":"narrow"},{"name":"interleukin-21 receptor ligand","type":"narrow"}],"termid":"GO:0001531"}


id: GO:0034668
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"An integrin complex that comprises one alpha4 subunit and one beta1 subunit.","definition_xrefs":["PMID:12297042"],"direct_ancestors":[{"relation_name":"is_a","term_name":"integrin complex","termid":"GO:0008305"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"part_of","termid":"GO:0005886"},{"rel_name":"is_a","termid":"GO:0032991"},{"rel_name":"is_a","termid":"GO:0005575"}],"interesting_parent_ids":["GO:0005886","GO:0032991","GO:0005575"],"is_obsolete":false,"name":"integrin alpha4-beta1 complex","synonyms":[{"name":"ITGA4-ITGB1 complex","type":"narrow"},{"name":"VLA-4 complex","type":"exact"},{"name":"alpha4-beta1 integrin complex","type":"exact"}],"termid":"GO:0034668"}


id: FYPO:0000315
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A phenotype in which a spore germinates to produce an elongated germ tube, and undergoes septation, but does not go on to form a viable dividing cell.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"inviable after spore germination, without cell division, with elongated germ tube","termid":"FYPO:0002379"},{"relation_name":"is_a","term_name":"inviable septated vegetative cell with abnormal cell morphology","termid":"FYPO:0002452"},{"relation_name":"is_a","term_name":"elongated septated vegetative cell","termid":"FYPO:0004750"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000004"},{"rel_name":"is_a","termid":"FYPO:0000005"},{"rel_name":"has_part","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"has_part","termid":"FYPO:0000005"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"has_part","termid":"FYPO:0001985"},{"rel_name":"has_part","termid":"FYPO:0000004"}],"interesting_parent_ids":["FYPO:0001985","FYPO:0001320","FYPO:0000002","FYPO:0000004","FYPO:0000005"],"is_obsolete":false,"name":"inviable after spore germination, without cell division, with elongated, septated germ tube","synonyms":[{"name":"inviable after spore germination, without cell division, elongated, septated cell","type":"exact"},{"name":"inviable following spore germination with elongated, septated germ tube","type":"exact"},{"name":"inviable germinated spore, without cell division, with elongated, septated germ tube","type":"exact"},{"name":"lethal after spore germination, without cell division, with elongated, septated germ tube","type":"exact"}],"termid":"FYPO:0000315"}


id: GO:0070369
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"A protein complex that contains beta-catenin and TCF7L2 (TCF4), binds to the TCF DNA motif within a promoter element, and is involved in the regulation of WNT target gene transcription.","definition_xrefs":["PMID:9065402","PMID:9065401","GOC:BHF","GOC:rl"],"direct_ancestors":[{"relation_name":"is_a","term_name":"catenin-TCF7L2 complex","termid":"GO:0071664"},{"relation_name":"is_a","term_name":"beta-catenin-TCF complex","termid":"GO:1990907"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005575"},{"rel_name":"is_a","termid":"GO:0032991"},{"rel_name":"part_of","termid":"GO:0005634"}],"interesting_parent_ids":["GO:0005634","GO:0032991","GO:0005575"],"is_obsolete":false,"name":"beta-catenin-TCF7L2 complex","synonyms":[{"name":"beta-catenin-TCF4 complex","type":"exact"}],"termid":"GO:0070369"}


id: MONDO:0018876
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''.","definition_xrefs":["Orphanet:52416"],"direct_ancestors":[{"relation_name":"is_a","term_name":"aggressive B-cell non-Hodgkin lymphoma","termid":"MONDO:0017595"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005570"},{"rel_name":"is_a","termid":"MONDO:0005046"}],"interesting_parent_ids":["MONDO:0005570","MONDO:0005046"],"is_obsolete":false,"name":"mantle cell lymphoma","secondary_identifiers":["NORD:1399","MEDGEN:1668377","MESH:D020522","icd11.foundation:1804127841","NCIT:C4337","ONCOTREE:MCL","SCTID:443487006","GARD:6969","UMLS:C4721414","EFO:1001469","ICDO:9673/3","DOID:0050746","ICD9:200.40","MedDRA:10061275"],"synonyms":[{"name":"LCM","type":"exact"},{"name":"MCL","type":"exact"},{"name":"classical mantle cell lymphoma","type":"exact"},{"name":"lymphoma, mantle cell","type":"related"},{"name":"mantle cell lymphoma","type":"exact"},{"name":"mantle zone lymphoma","type":"exact"}],"termid":"MONDO:0018876","xrefs":{"Monarch":{"xref_id":"0018876"}}}


id: MONDO:0010074
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"autosomal recessive brachyolmia","termid":"MONDO:0018662"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005497"},{"rel_name":"is_a","termid":"MONDO:0006025"}],"interesting_parent_ids":["MONDO:0005497","MONDO:0006025"],"is_obsolete":false,"name":"brachyolmia type 1, toledo type","secondary_identifiers":["Orphanet:93303","OMIM:271630","UMLS:C1849048","icd11.foundation:637954533","MEDGEN:376504","GARD:4977","MESH:C535787"],"synonyms":[{"name":"BCYM1B","type":"exact"},{"name":"PAPS-chondroitin sulfate sulfotransferase deficiency","type":"related"},{"name":"PAPS-chondroitin sulphate sulfotransferase deficiency","type":"related"},{"name":"Sed, chondroitin sulfate type","type":"related"},{"name":"Sed, chondroitin sulphate type","type":"related"},{"name":"brachyolmia type 1, Toledo type","type":"related"},{"name":"spondyloepiphyseal dysplasia tarda, Toledo type","type":"related"}],"termid":"MONDO:0010074","xrefs":{"Monarch":{"xref_id":"0010074"}}}


id: PATO:0000371
data:
  {"annotation_feature_type":"gene","cv_name":"quality","gene_count":0,"genotype_count":0,"name":"OBSOLETE PATO:0000371 distance value (obsolete PATO:0000371)","termid":"PATO:0000371"}


id: PBO:0072178
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein S16 pseudogene 5","termid":"PBO:0072178"}


id: PBO:0090774
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ubiquitin conjugating enzyme E2 for APC and SCF Ubc4/UbcP1","termid":"PBO:0090774"}


id: PBO:0029681
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-mitotic_spindle_absent_from_cell","termid":"PBO:0029681"}


id: PBO:0060133
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"MT-ND6 pseudogene 34","termid":"PBO:0060133"}


id: GO:0008484
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: RSO-R' + H2O = RSOOH + R'H. This reaction is the hydrolysis of a sulfuric ester bond, an ester formed from sulfuric acid, O=SO(OH)2.","definition_xrefs":["GOC:ai"],"direct_ancestors":[{"relation_name":"is_a","term_name":"hydrolase activity, acting on ester bonds","termid":"GO:0016788"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0016787"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0016788"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0016787","GO:0016788","GO:0003824","GO:0003674"],"is_obsolete":false,"name":"sulfuric ester hydrolase activity","secondary_identifiers":["EC:3.1.6.-"],"synonyms":[{"name":"sulfatase activity","type":"exact"},{"name":"sulphuric ester hydrolase activity","type":"exact"}],"termid":"GO:0008484"}


id: PBO:0113375
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Putative calcium channel involved in calcium release under hypotonic stress; required for uptake of FAD into endoplasmic reticulum; involved in cell wall maintenance; targeted to vacuole via AP-3 pathway; FLC2 has a paralog, YOR365C, that arose from the whole genome duplication","termid":"PBO:0113375"}


id: GO:0006064
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the breakdown of glucuronate, any salt or ester of glucuronic acid.","definition_xrefs":["GOC:go_curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"glucuronate metabolic process","termid":"GO:0019585"},{"relation_name":"is_a","term_name":"monocarboxylic acid catabolic process","termid":"GO:0072329"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0044281"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0044281","GO:0008150"],"is_obsolete":false,"name":"glucuronate catabolic process","synonyms":[{"name":"glucuronate breakdown","type":"exact"},{"name":"glucuronate catabolism","type":"exact"},{"name":"glucuronate degradation","type":"exact"}],"termid":"GO:0006064"}


id: SO:0001297
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"N6_methyladenosine is a modified adenosine.","direct_ancestors":[{"relation_name":"is_a","term_name":"modified_adenosine","termid":"SO:0001273"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"N6_methyladenosine","secondary_identifiers":["RNAMOD:003"],"synonyms":[{"name":"N6 methyladenosine","type":"exact"},{"name":"N6-methyladenosine","type":"exact"},{"name":"m6A","type":"exact"}],"termid":"SO:0001297"}


id: MONDO:0009717
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia).","definition_xrefs":["Orphanet:800"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"progressive muscular dystrophy","termid":"MONDO:0016106"},{"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":"qualitative or quantitative defects of perlecan","termid":"MONDO:0016151"},{"relation_name":"is_a","term_name":"spondyloepiphyseal dysplasia","termid":"MONDO:0016761"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005497"},{"rel_name":"is_a","termid":"MONDO:0006025"}],"interesting_parent_ids":["MONDO:0005497","MONDO:0006025"],"is_obsolete":false,"name":"Schwartz-Jampel syndrome","secondary_identifiers":["icd11.foundation:1725668060","NANDO:1200224","NORD:1697","NCIT:C35008","MEDGEN:19892","UMLS:C0036391","GARD:250","NANDO:2100235","NANDO:2200876","ICD9:759.89","SCTID:29145002"],"synonyms":[{"name":"Aberfeld syndrome","type":"exact"},{"name":"Catel-Hempel syndrome","type":"exact"},{"name":"Catel-Hempel type dysostosis enchondralis metaepiphysaria","type":"exact"},{"name":"Osteochondromuscular dystrophy","type":"exact"},{"name":"SJS","type":"exact"},{"name":"Schwartz Jampel Aberfeld syndrome","type":"related"},{"name":"Schwartz Jampel Syndrome","type":"exact"},{"name":"Schwartz Jampel syndrome","type":"related"},{"name":"Schwartz-Jampel syndrome","type":"exact"},{"name":"Schwartz-Jampel-Aberfeld syndrome","type":"exact"},{"name":"burton skeletal dysplasia","type":"exact"},{"name":"burton syndrome","type":"exact"},{"name":"dysostosis enchondralis metaepiphysaria, Catel-Hempel type","type":"exact"},{"name":"myotonic chondrodystrophy","type":"exact"},{"name":"myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities","type":"related"},{"name":"myotonic myopathy, dwarfism, chondrodystrophy, and ocular and Facial abnormalities","type":"related"},{"name":"myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies","type":"exact"},{"name":"osteochondromuscular dystrophy","type":"exact"}],"termid":"MONDO:0009717","xrefs":{"Monarch":{"xref_id":"0009717"}}}


id: MOD:00267
data:
  {"annotation_feature_type":"gene","cv_name":"PSI-MOD","definition":"A protein modification that effectively dioxygenates an L-cysteine residue to L-cysteine sulfinic acid.","definition_xrefs":["PubMed:9252331","ChEBI:16345","RESID:AA0262","Unimod:425#C","OMSSA:162","PubMed:9586994","PubMed:12686488"],"direct_ancestors":[{"relation_name":"is_a","term_name":"sulfur oxygenated L-cysteine","termid":"MOD:00708"},{"relation_name":"is_a","term_name":"sulfur dioxygenated residue","termid":"MOD:01855"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MOD:00905"}],"interesting_parent_ids":["MOD:00905"],"is_obsolete":false,"name":"L-cysteine sulfinic acid","synonyms":[{"name":"(2R)-2-amino-3-sulfinopropanoic acid","type":"exact"},{"name":"2-amino-2-carboxyethanesulfinic acid","type":"exact"},{"name":"2-amino-3-(dioxido-lambda(6)-sulfanyl)propanoic acid [tautomer]","type":"exact"},{"name":"2-amino-3-sulfonylpropanoic acid [tautomer]","type":"exact"},{"name":"3-sulfinoalanine","type":"exact"},{"name":"3-sulphinoalanine","type":"exact"},{"name":"CysO2H","type":"exact"},{"name":"Dioxidation","type":"related"},{"name":"L-cysteine sulfinic acid","type":"exact"},{"name":"MOD_RES Cysteine sulfinic acid (-SO2H)","type":"exact"},{"name":"S-cysteinesulfinic acid","type":"exact"},{"name":"S-sulfinocysteine","type":"exact"},{"name":"cysteine sulphinic acid","type":"exact"},{"name":"cysteine-S,S-dioxide [tautomer]","type":"exact"},{"name":"dihydroxy","type":"related"},{"name":"sulfinicacid","type":"exact"}],"termid":"MOD:00267"}


id: GO:1990710
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  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"A homodimeric mismatch repair complex involved in binding to and correcting insertion/deletion mutations.","definition_xrefs":["GOC:bhm","PMID:21666597"],"direct_ancestors":[{"relation_name":"is_a","term_name":"mismatch repair complex","termid":"GO:0032300"},{"relation_name":"is_a","term_name":"DNA repair complex","termid":"GO:1990391"}],"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":"MutS complex","synonyms":[{"name":"MutS mismatch repair complex","type":"exact"}],"termid":"GO:1990710"}


id: GO:1900469
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  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents or reduces the frequency, rate or extent of phosphatidylserine biosynthetic process.","definition_xrefs":["GOC:TermGenie","PMID:8056324","PMID:8614637","GOC:dgf"],"direct_ancestors":[{"relation_name":"is_a","term_name":"negative regulation of phospholipid biosynthetic process","termid":"GO:0071072"},{"relation_name":"is_a","term_name":"negative regulation of phosphatidylserine metabolic process","termid":"GO:0150180"},{"relation_name":"is_a","term_name":"regulation of phosphatidylserine biosynthetic process","termid":"GO:1900468"},{"relation_name":"negatively_regulates","term_name":"phosphatidylserine biosynthetic process","termid":"GO:0006659"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"regulates","termid":"GO:0006629"},{"rel_name":"negatively_regulates","termid":"GO:0006629"}],"interesting_parent_ids":["GO:0006629","GO:0008150"],"is_obsolete":false,"name":"negative regulation of phosphatidylserine biosynthetic process","synonyms":[{"name":"down regulation of phosphatidylserine anabolism","type":"exact"},{"name":"down regulation of phosphatidylserine biosynthesis","type":"exact"},{"name":"down regulation of phosphatidylserine biosynthetic process","type":"exact"},{"name":"down regulation of phosphatidylserine formation","type":"exact"},{"name":"down regulation of phosphatidylserine synthesis","type":"exact"},{"name":"down-regulation of phosphatidylserine anabolism","type":"exact"},{"name":"down-regulation of phosphatidylserine biosynthesis","type":"exact"},{"name":"down-regulation of phosphatidylserine biosynthetic process","type":"exact"},{"name":"down-regulation of phosphatidylserine formation","type":"exact"},{"name":"down-regulation of phosphatidylserine synthesis","type":"exact"},{"name":"downregulation of phosphatidylserine anabolism","type":"exact"},{"name":"downregulation of phosphatidylserine biosynthesis","type":"exact"},{"name":"downregulation of phosphatidylserine biosynthetic process","type":"exact"},{"name":"downregulation of phosphatidylserine formation","type":"exact"},{"name":"downregulation of phosphatidylserine synthesis","type":"exact"},{"name":"inhibition of phosphatidylserine anabolism","type":"exact"},{"name":"inhibition of phosphatidylserine biosynthesis","type":"exact"},{"name":"inhibition of phosphatidylserine biosynthetic process","type":"narrow"},{"name":"inhibition of phosphatidylserine formation","type":"exact"},{"name":"inhibition of phosphatidylserine synthesis","type":"exact"},{"name":"negative regulation of phosphatidylserine anabolism","type":"exact"},{"name":"negative regulation of phosphatidylserine biosynthesis","type":"exact"},{"name":"negative regulation of phosphatidylserine formation","type":"exact"},{"name":"negative regulation of phosphatidylserine synthesis","type":"exact"}],"termid":"GO:1900469"}


id: FYPO:0003505
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  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A molecular function phenotype in which glutathione gamma-glutamylcysteinyltransferase activity is absent.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abolished catalytic activity","termid":"FYPO:0000664"},{"relation_name":"is_a","term_name":"abnormal glutathione gamma-glutamylcysteinyltransferase activity","termid":"FYPO:0000754"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0000707"},{"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:0000707","FYPO:0001985","FYPO:0000652","FYPO:0000654","FYPO:0000661"],"is_obsolete":false,"name":"abolished glutathione gamma-glutamylcysteinyltransferase activity","synonyms":[{"name":"glutathione gamma-glutamylcysteinyltransferase activity abolished","type":"exact"}],"termid":"FYPO:0003505"}


id: PBO:0040534
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  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"beta-1,3-galactosyltransferase 1","termid":"PBO:0040534"}


id: GO:0010234
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process in which a cell becomes capable of differentiating autonomously into a tapetal cell of anthers in an environment that is neutral with respect to the developmental pathway; upon specification, the cell fate can be reversed.","definition_xrefs":["GOC:mg"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cell fate specification","termid":"GO:0001708"},{"relation_name":"is_a","term_name":"developmental process involved in reproduction","termid":"GO:0003006"},{"relation_name":"part_of","term_name":"anther wall tapetum cell differentiation","termid":"GO:0048657"}],"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":"anther wall tapetum cell fate specification","synonyms":[{"name":"tapetal cell fate specification","type":"broad"}],"termid":"GO:0010234"}


id: PR:Q09831
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  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- ppk14 gene.","definition_xrefs":["PRO:DNx","UniProtKB:Q09831"],"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":"serine/threonine-protein kinase ppk14 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAC4G8.05","synonyms":[{"name":"Spom972h-ppk14","type":"exact"}],"termid":"PR:Q09831"}


id: MONDO:0012068
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  {"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":"brachial palsy, familial congenital","secondary_identifiers":["MEDGEN:324884","MESH:C563901","UMLS:C1837810","OMIM:608585"],"synonyms":[{"name":"brachial palsy, familial congenital","type":"exact"}],"termid":"MONDO:0012068","xrefs":{"Monarch":{"xref_id":"0012068"}}}


id: PBO:0041554
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  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"chromosome 19 open reading frame 33","termid":"PBO:0041554"}


id: PBO:0066617
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"rhophilin Rho GTPase binding protein 2","termid":"PBO:0066617"}


id: SO:0001645
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"A measurable sequence feature that varies within a population.","definition_xrefs":["SO:db"],"direct_ancestors":[{"relation_name":"is_a","term_name":"biological_region","termid":"SO:0001411"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"genetic_marker","synonyms":[{"name":"genetic marker","type":"related"}],"termid":"SO:0001645"}


id: GO:0046486
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id: FYPO:0003707
data:
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id: GO:0097639
data:
  {"annotated_genes":["SJAG_04637"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[102267],"is_not":false,"summary":null,"term":"GO:0097639"}]},"cv_name":"biological_process","definition":"The directed movement of L-lysine from outside of a cell, across the plasma membrane and into the cytosol.","definition_xrefs":["GOC:krc","PMID:8195186"],"direct_ancestors":[{"relation_name":"is_a","term_name":"amino acid import across plasma membrane","termid":"GO:0089718"},{"relation_name":"is_a","term_name":"L-lysine transmembrane transport","termid":"GO:1903401"}],"gene_count":1,"genes_by_uniquename":{"SJAG_04637":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0006810"},{"rel_name":"is_a","termid":"GO:0055085"},{"rel_name":"is_a","termid":"GO:0051179"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0055085","GO:0006810","GO:0051179","GO:0008150"],"is_obsolete":false,"name":"L-lysine import across plasma membrane","references_by_uniquename":{"GO_REF:0000107":null},"secondary_identifiers":["GO:1903410"],"synonyms":[{"name":"L-lysine import into cell","type":"exact"}],"termid":"GO:0097639","terms_by_termid":{"GO:0097639":null}}


id: FYPO:0007960
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 rate, or speed, of mitotic spindle elongation is decreased during prophase.","definition_xrefs":["PomBase:mlr"],"direct_ancestors":[{"relation_name":"is_a","term_name":"decreased rate of mitotic spindle elongation","termid":"FYPO:0003268"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000631"},{"rel_name":"is_a","termid":"FYPO:0000337"},{"rel_name":"part_of","termid":"FYPO:0000631"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0000054"},{"rel_name":"part_of","termid":"FYPO:0000337"},{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0000641"},{"rel_name":"part_of","termid":"FYPO:0005447"},{"rel_name":"part_of","termid":"FYPO:0001320"},{"rel_name":"part_of","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0001320"}],"interesting_parent_ids":["FYPO:0000631","FYPO:0001985","FYPO:0005447","FYPO:0001320","FYPO:0000054","FYPO:0000337","FYPO:0000641","FYPO:0000002"],"is_obsolete":false,"name":"decreased rate of mitotic spindle elongation during prophase","termid":"FYPO:0007960"}


id: MONDO:0009045
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963.","definition_xrefs":["Orphanet:1380"],"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"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"cataract-nephropathy-encephalopathy syndrome","secondary_identifiers":["GARD:1614","SCTID:722381004","MESH:C536216","MEDGEN:167082","UMLS:C0795914","OMIM:218900"],"synonyms":[{"name":"congenital cataracts, renal tubular necrosis and encephalopathy in two sisters","type":"related"},{"name":"crome syndrome","type":"exact"}],"termid":"MONDO:0009045","xrefs":{"Monarch":{"xref_id":"0009045"}}}


id: PBO:0083044
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Deoxycytidyl transferase; involved in repair of abasic sites and adducted guanines in damaged DNA by translesion synthesis (TLS); forms a complex with the subunits of DNA polymerase zeta, Rev3p and Rev7p; relocalizes from nucleus to cytoplasm upon DNA replication stress; may be involved in meiosis","termid":"PBO:0083044"}


id: GO:0010792
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The 5' to 3' exonucleolytic resection of the DNA at the site of the break to form a 3' single-strand DNA overhang that results in the repair of a double strand break via single-strand annealing.","definition_xrefs":["GOC:dph","GOC:tb"],"direct_ancestors":[{"relation_name":"is_a","term_name":"DNA double-strand break processing","termid":"GO:0000729"},{"relation_name":"part_of","term_name":"double-strand break repair via single-strand annealing","termid":"GO:0045002"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"part_of","termid":"GO:0006281"},{"rel_name":"part_of","termid":"GO:0006259"},{"rel_name":"is_a","termid":"GO:0006259"}],"interesting_parent_ids":["GO:0006281","GO:0006259","GO:0008150"],"is_obsolete":false,"name":"DNA double-strand break processing involved in repair via single-strand annealing","termid":"GO:0010792"}


id: PBO:0057695
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 1284","termid":"PBO:0057695"}


id: GO:0051749
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: indole acetic acid + S-adenosyl-methionine = methyl indole acetic acid ester + S-adenosyl-homocysteine.","definition_xrefs":["PMID:16169896"],"direct_ancestors":[{"relation_name":"is_a","term_name":"methyltransferase activity","termid":"GO:0008168"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0016741"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0016740"}],"interesting_parent_ids":["GO:0016741","GO:0003824","GO:0016740","GO:0003674"],"is_obsolete":false,"name":"indole acetic acid carboxyl methyltransferase activity","synonyms":[{"name":"IAA carboxyl methyltransferase activity","type":"exact"}],"termid":"GO:0051749"}


id: GO:0050077
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: 3-maleylpyruvate = 3-fumarylpyruvate.","definition_xrefs":["EC:5.2.1.4","MetaCyc:MALEYLPYRUVATE-ISOMERASE-RXN"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cis-trans isomerase activity","termid":"GO:0016859"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0016853"}],"interesting_parent_ids":["GO:0003674","GO:0016853","GO:0003824"],"is_obsolete":false,"name":"maleylpyruvate isomerase activity","secondary_identifiers":["RHEA:17393"],"synonyms":[{"name":"3-maleylpyruvate cis-trans-isomerase activity","type":"related"}],"termid":"GO:0050077"}


id: PBO:0086237
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Protein that interacts with Vps4p and has a role in vacuolar sorting; stimulates the ATPase activity of Vps4; localizes to endosomes in a Vps4-dependent manner; overexpression causes canavanine sensitivity and confers a partial class D vacuole morphology","termid":"PBO:0086237"}


id: FYPO:0004360
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cell cycle checkpoint phenotype in which the duration of mitotic cell cycle arrest or delay due to regulation by the DNA replication checkpoint is shorter than normal. The DNA replication checkpoint normally prevents the initiation of mitosis until DNA replication is complete.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal mitotic cell cycle DNA replication checkpoint","termid":"FYPO:0000173"}],"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:0000631"},{"rel_name":"is_a","termid":"FYPO:0000298"},{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0001320"}],"interesting_parent_ids":["FYPO:0000631","FYPO:0001985","FYPO:0005447","FYPO:0000002","FYPO:0001320","FYPO:0000298"],"is_obsolete":false,"name":"decreased duration of mitotic cell cycle DNA replication checkpoint","synonyms":[{"name":"decreased duration of DNA replication checkpoint","type":"broad"},{"name":"decreased duration of mitotic cell cycle DNA replication checkpoint activation","type":"exact"},{"name":"reduced duration of mitotic cell cycle DNA replication checkpoint","type":"exact"}],"termid":"FYPO:0004360"}


id: MONDO:0000703
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A type of microscopic colitis of unknown etiology. It is characterized by the presence of collagen deposits in the lamina propria of the colonic mucosa. Patients present with chronic watery diarrhea. Colonoscopy reveals normal-appearing mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples.","definition_xrefs":["NCIT:P378"],"direct_ancestors":[{"relation_name":"is_a","term_name":"microscopic colitis","termid":"MONDO:0000702"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0004335"},{"rel_name":"is_a","termid":"MONDO:0005046"}],"interesting_parent_ids":["MONDO:0005046","MONDO:0004335"],"is_obsolete":false,"name":"collagenous colitis","secondary_identifiers":["MESH:D046729","DOID:0060183","ICD9:558.9","EFO:1001293","MEDGEN:65945","Orphanet:36205","SCTID:19311003","MedDRA:10048928","NCIT:C27021","UMLS:C0238067","icd11.foundation:1322041450","ICD10CM:K52.831"],"termid":"MONDO:0000703","xrefs":{"Monarch":{"xref_id":"0000703"}}}


id: MONDO:0007190
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"hereditary neoplastic syndrome","termid":"MONDO:0015356"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"leukemia, chronic lymphocytic, susceptibility to, 2","secondary_identifiers":["OMIM:109543","MEDGEN:358385","UMLS:C1868683"],"synonyms":[{"name":"B-cell malignancy, low-grade","type":"related"},{"name":"Clls2","type":"related"},{"name":"disrupted in B-cell malignancy","type":"related"},{"name":"leukemia, chronic lymphocytic, B-cell","type":"related"},{"name":"leukemia, chronic lymphocytic, susceptibility to, 2","type":"exact"},{"name":"leukemia, chronic lymphocytic, susceptibility to, type 2","type":"exact"}],"termid":"MONDO:0007190","xrefs":{"Monarch":{"xref_id":"0007190"}}}


id: PBO:0062437
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 101 pseudogene","termid":"PBO:0062437"}


id: GO:1902061
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways involving betaine aldehyde.","definition_xrefs":["GOC:di","GOC:TermGenie","PMID:23563483"],"direct_ancestors":[{"relation_name":"is_a","term_name":"metabolic process","termid":"GO:0008152"}],"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":"betaine aldehyde metabolic process","synonyms":[{"name":"betaine aldehyde metabolism","type":"exact"}],"termid":"GO:1902061"}


id: PBO:0087365
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Sporulation-specific homolog of the CDC3/10/11/12 family of genes; meiotic septin expressed at high levels during meiotic divisions and ascospore formation; the yeast CDC3/10/11/12 family is a family of bud neck microfilament genes","termid":"PBO:0087365"}


id: PBO:0058072
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"MIR4290 host gene","termid":"PBO:0058072"}


id: MONDO:0000434
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete peripheral T-cell lymphoma (obsolete MONDO:0000434)","termid":"MONDO:0000434","xrefs":{"Monarch":{"xref_id":"0000434"}}}


id: PBO:0058355
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 4728","termid":"PBO:0058355"}


id: PBO:0030426
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-abnormal_centromere_clustering_at_nuclear_periphery","termid":"PBO:0030426"}


id: GO:0016037
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The reception of a photon by a cell.","definition_xrefs":["GOC:go_curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cellular process","termid":"GO:0009987"},{"relation_name":"part_of","term_name":"detection of light stimulus","termid":"GO:0009583"}],"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":"light absorption","synonyms":[{"name":"absorption of light","type":"exact"}],"termid":"GO:0016037"}


id: PBO:0081314
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"zinc finger protein 98","termid":"PBO:0081314"}


id: PBO:0059536
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"mitochondrially encoded transcription factor binding site H","termid":"PBO:0059536"}


id: PBO:0114867
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"mitochondrial [2Fe-2S] cluster assembly chaperone Ssc1","termid":"PBO:0114867"}


id: SO:0001770
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"A variant that does not affect the function of the gene or cause disease.","direct_ancestors":[{"relation_name":"is_a","term_name":"variant_phenotype","termid":"SO:0001769"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"benign_variant","synonyms":[{"name":"benign variant","type":"exact"}],"termid":"SO:0001770"}


id: MONDO:0014862
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"spastic quadriplegic cerebral palsy","termid":"MONDO:0016215"},{"relation_name":"is_a","term_name":"Mendelian neurodevelopmental disorder","termid":"MONDO:0100500"},{"relation_name":"is_a","term_name":"complex neurodevelopmental disorder with motor features","termid":"MONDO:0100516"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0700092"}],"interesting_parent_ids":["MONDO:0700092"],"is_obsolete":false,"name":"cerebral palsy, spastic quadriplegic, 3","secondary_identifiers":["GARD:18310","UMLS:C4310767","DOID:0081361","OMIM:617008","MEDGEN:934734"],"synonyms":[{"name":"ADD3 spastic quadriplegia","type":"exact"},{"name":"CPSQ3","type":"exact"},{"name":"cerebral palsy, spastic quadriplegic, 3","type":"exact"},{"name":"cerebral palsy, spastic quadriplegic, 3; CPSQ3","type":"exact"},{"name":"cerebral palsy, spastic quadriplegic, type 3","type":"exact"},{"name":"spastic quadriplegia caused by mutation in ADD3","type":"exact"}],"termid":"MONDO:0014862","xrefs":{"Monarch":{"xref_id":"0014862"}}}


id: GO:1900392
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. A negative regulation of transcription from RNA polymerase II promoter that results in regulation of transport.","definition_xrefs":["PMID:17446861","GOC:TermGenie","GOC:mah"],"gene_count":0,"genotype_count":0,"name":"obsolete regulation of transport by negative regulation of transcription from RNA polymerase II promoter (obsolete GO:1900392)","termid":"GO:1900392"}


id: PBO:0056408
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"membrane associated ring-CH-type finger 6","termid":"PBO:0056408"}


id: GO:0140793
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: histone H2AX tyrosine phosphate (position 142) + H2O = histone H2AX tyrosine (position 142) + phosphate.","definition_xrefs":["PMID:19351884","PMID:19234442"],"direct_ancestors":[{"relation_name":"is_a","term_name":"histone phosphatase activity","termid":"GO:0140789"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0004721"},{"rel_name":"is_a","termid":"GO:0016787"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0140096"},{"rel_name":"is_a","termid":"GO:0016788"},{"rel_name":"is_a","termid":"GO:0003824"}],"interesting_parent_ids":["GO:0140096","GO:0003824","GO:0003674","GO:0016787","GO:0016788","GO:0004721"],"is_obsolete":false,"name":"histone H2AXY142 phosphatase activity","synonyms":[{"name":"histone H2-Y142 phosphatase activity","type":"exact"},{"name":"histone H2Y142 phosphatase activity","type":"related"},{"name":"histone tyrosine phosphatase activity (H2-Y142 specific)","type":"exact"}],"termid":"GO:0140793"}


id: PBO:0051763
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"importin 7 pseudogene 2","termid":"PBO:0051763"}


id: GO:0034345
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents, or reduces the frequency, rate, or extent of type III interferon production. Interferon lambda is the only member of the type III interferon found so far.","definition_xrefs":["PMID:15546383","ISBN:0126896631","PMID:16734557","GOC:add"],"direct_ancestors":[{"relation_name":"is_a","term_name":"negative regulation of cytokine production","termid":"GO:0001818"},{"relation_name":"is_a","term_name":"regulation of type III interferon production","termid":"GO:0034344"},{"relation_name":"negatively_regulates","term_name":"type III interferon production","termid":"GO:0034343"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"regulates","termid":"GO:0010467"},{"rel_name":"negatively_regulates","termid":"GO:0010467"}],"interesting_parent_ids":["GO:0008150","GO:0010467"],"is_obsolete":false,"name":"negative regulation of type III interferon production","synonyms":[{"name":"down regulation of type III interferon production","type":"exact"},{"name":"down-regulation of type III interferon production","type":"exact"},{"name":"downregulation of type III interferon production","type":"exact"},{"name":"inhibition of type III interferon production","type":"narrow"},{"name":"negative regulation of type III IFN production","type":"exact"}],"termid":"GO:0034345"}


id: MONDO:0006252
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete infiltrating bladder lymphoepithelioma-like carcinoma (obsolete MONDO:0006252)","termid":"MONDO:0006252","xrefs":{"Monarch":{"xref_id":"0006252"}}}


id: PBO:0082458
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Ca2+-dependent cysteine protease; may cleave specific substrates during the stress response; regulates apoptosis upon H2O2 treatment; required for clearance of insoluble protein aggregates during normal growth; implicated in cell cycle dynamics and lifespan extension; undergoes autocatalytic processing; similar to mammalian metacaspases, but exists as a monomer due to an extra pair of anti-parallel beta-strands that block potential dimerization","termid":"PBO:0082458"}


id: MONDO:0014677
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Any achromatopsia in which the cause of the disease is a mutation in the ATF6 gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"achromatopsia","termid":"MONDO:0018852"},{"relation_name":"is_a","term_name":"ATF6-related retinopathy","termid":"MONDO:0100447"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005328"}],"interesting_parent_ids":["MONDO:0005328"],"is_obsolete":false,"name":"achromatopsia 7","secondary_identifiers":["MEDGEN:904646","DOID:0110009","UMLS:C4225297","OMIM:616517","GARD:16129"],"synonyms":[{"name":"ACHM7","type":"exact"},{"name":"ATF6 achromatopsia","type":"exact"},{"name":"achromatopsia 7","type":"exact"},{"name":"achromatopsia caused by mutation in ATF6","type":"exact"},{"name":"achromatopsia type 7","type":"exact"}],"termid":"MONDO:0014677","xrefs":{"Monarch":{"xref_id":"0014677"}}}


id: PBO:0045134
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"DNAAF3 antisense RNA 1","termid":"PBO:0045134"}


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


id: MONDO:0100254
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A progressive complex neurodevelopmental condition caused by variants in the CACNA1A gene. Phenotypic onset (usually) occurs around age 1 and most often includes intellectual disability but can also include epileptic encephalopathy, benign paroxysmal torticollis of infancy and paroxysmal tonic upgaze psychomotor delay, learning difficulties, absence epilepsy, episodic ataxia, and hemiplegic migraines.","direct_ancestors":[{"relation_name":"is_a","term_name":"Mendelian neurodevelopmental disorder","termid":"MONDO:0100500"},{"relation_name":"is_a","term_name":"complex neurodevelopmental disorder with motor features","termid":"MONDO:0100516"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0700092"}],"interesting_parent_ids":["MONDO:0700092"],"is_obsolete":false,"name":"CACNA1A-related complex neurodevelopmental disorder","termid":"MONDO:0100254","xrefs":{"Monarch":{"xref_id":"0100254"}}}


id: GO:0006040
data:
  {"annotated_genes":["SJAG_04728","SJAG_04868","SJAG_01443","SJAG_00519","SJAG_00620","SJAG_00442","SJAG_02845","SJAG_00978","SJAG_03723"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[112021,73704,76016,76226,80144,72757],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0006031"},{"annotations":[68442],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0006032"},{"annotations":[68683,78393,73705,72758,58464],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0006048"}]},"cv_name":"biological_process","definition":"The chemical reactions and pathways involving any amino sugar, sugars containing an amino group in place of a hydroxyl group.","definition_xrefs":["ISBN:0192801023","GOC:jl"],"direct_ancestors":[{"relation_name":"is_a","term_name":"carbohydrate derivative metabolic process","termid":"GO:1901135"}],"gene_count":9,"genes_by_uniquename":{"SJAG_00442":null,"SJAG_00519":null,"SJAG_00620":null,"SJAG_00978":null,"SJAG_01443":null,"SJAG_02845":null,"SJAG_03723":null,"SJAG_04728":null,"SJAG_04868":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"amino sugar metabolic process","references_by_uniquename":{"GO_REF:0000033":null,"GO_REF:0000041":null,"GO_REF:0000043":null,"GO_REF:0000107":null},"synonyms":[{"name":"amino sugar metabolism","type":"exact"},{"name":"aminosaccharide metabolic process","type":"exact"},{"name":"aminosaccharide metabolism","type":"exact"}],"termid":"GO:0006040","terms_by_termid":{"GO:0006031":null,"GO:0006032":null,"GO:0006048":null}}


id: PBO:0002877
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"guanyl-nucleotide exchange factor Sec74 (predicted)","termid":"PBO:0002877"}


id: GO:0098942
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Cell-cell signaling from postsynapse to presynapse, across the synaptic cleft, mediated by trans-synaptic protein complex.","definition_xrefs":["GOC:dos"],"direct_ancestors":[{"relation_name":"is_a","term_name":"retrograde trans-synaptic signaling","termid":"GO:0098917"},{"relation_name":"is_a","term_name":"trans-synaptic signaling by trans-synaptic complex","termid":"GO:0099545"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0023052"}],"interesting_parent_ids":["GO:0023052","GO:0008150"],"is_obsolete":false,"name":"retrograde trans-synaptic signaling by trans-synaptic protein complex","termid":"GO:0098942"}


id: GO:0102853
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"OBSOLETE. Catalysis of the reaction: 1-18:1-2-18:1-sn-glycerol-3-phosphocholine + O2 + a reduced electron acceptor = 1-18:2-2-18:1-phosphatidylcholine + 2 H2O + an oxidized electron acceptor.","definition_xrefs":["GOC:pz"],"gene_count":0,"genotype_count":0,"name":"obsolete 1-18:1-2-18:1-sn-glycerol-3-phosphocholine desaturase activity (obsolete GO:0102853)","termid":"GO:0102853"}


id: FYPO:0007622
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 reactive oxygen species (ROS) measured in a cell is higher than normal when the cell is subject to oxidative stress.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"increased level of substance in cell during vegetative growth","termid":"FYPO:0001330"},{"relation_name":"is_a","term_name":"altered cellular reactive oxygen species level","termid":"FYPO:0002142"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0001985"}],"interesting_parent_ids":["FYPO:0001320","FYPO:0000002","FYPO:0001985"],"is_obsolete":false,"name":"increased cellular reactive oxygen species level during cellular response to oxidative stress","synonyms":[{"name":"increased ROS accumulation during cellular response to oxidative stress","type":"related"},{"name":"increased cellular ROS accumulation during cellular response to oxidative stress","type":"related"},{"name":"increased cellular ROS level during cellular response to oxidative stress","type":"exact"},{"name":"increased cellular reactive oxygen species accumulation during cellular response to oxidative stress","type":"related"},{"name":"increased cellular reactive oxygen species level during cellular response to oxidative stress during mitotic cell cycle","type":"related"},{"name":"increased cellular reactive oxygen species level during cellular response to oxidative stress during vegetative growth","type":"exact"},{"name":"increased cellular reactive oxygen species level during oxidative stress response","type":"exact"}],"termid":"FYPO:0007622"}


id: GO:0061483
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"OBSOLETE. OBSOLETE. Catalysis of the reaction: cysteine sulfanate + GTP + IMP = sulfinylpropanyl adenylate + GDP + 3 H+ + phosphate.","definition_xrefs":["PMID:8346915","GOC:dph"],"gene_count":0,"genotype_count":0,"name":"obsolete obsolete sulfinylpropanyl adenylate synthase activity (obsolete GO:0061483)","synonyms":[{"name":"SPA synthase activity","type":"related"}],"termid":"GO:0061483"}


id: GO:0015315
data:
  {"annotated_genes":["SJAG_00612"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[104778],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0140987"}]},"cv_name":"molecular_function","definition":"Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: organophosphate(out) + phosphate(in) = organophosphate(in) +  phosphate(out).","definition_xrefs":["TC:2.A.1.4.-"],"direct_ancestors":[{"relation_name":"is_a","term_name":"phosphate transmembrane transporter activity","termid":"GO:0005315"},{"relation_name":"is_a","term_name":"solute:inorganic anion antiporter activity","termid":"GO:0005452"}],"gene_count":1,"genes_by_uniquename":{"SJAG_00612":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:0022857","GO:0003674","GO:0005215"],"is_obsolete":false,"name":"organophosphate:phosphate antiporter activity","references_by_uniquename":{"GO_REF:0000107":null},"synonyms":[{"name":"organophosphate:inorganic phosphate antiporter activity","type":"exact"}],"termid":"GO:0015315","terms_by_termid":{"GO:0140987":null}}


id: FYPO:0006837
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 dephosphorylation of one or more specific proteins, or of specific protein sites, occurs to a greater extent than normal during cytokinesis.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"increased protein modification during vegetative growth","termid":"FYPO:0000547"},{"relation_name":"is_a","term_name":"abnormal protein dephosphorylation during vegetative growth","termid":"FYPO:0005956"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0002274"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0002494"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0005447"}],"interesting_parent_ids":["FYPO:0001320","FYPO:0000002","FYPO:0005447","FYPO:0001985","FYPO:0002274","FYPO:0002494"],"is_obsolete":false,"name":"increased protein dephosphorylation during cytokinesis","synonyms":[{"name":"increased protein dephosphorylation during cytokinesis during vegetative growth","type":"exact"},{"name":"increased protein/peptide dephosphorylation during cytokinesis","type":"exact"}],"termid":"FYPO:0006837"}


id: GO:0046907
data:
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id: MONDO:0000913
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  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTB gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"hereditary spherocytosis","termid":"MONDO:0019350"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005570"},{"rel_name":"is_a","termid":"MONDO:0002280"}],"interesting_parent_ids":["MONDO:0002280","MONDO:0005570"],"is_obsolete":false,"name":"hereditary spherocytosis type 2","secondary_identifiers":["MEDGEN:436112","DOID:0110917","GARD:16149","OMIM:616649","UMLS:C2674219"],"synonyms":[{"name":"HS2","type":"exact"},{"name":"SPH2","type":"exact"},{"name":"SPTB hereditary spherocytosis","type":"exact"},{"name":"hereditary spherocytosis 2","type":"exact"},{"name":"hereditary spherocytosis caused by mutation in SPTB","type":"exact"},{"name":"hereditary spherocytosis type 2","type":"exact"},{"name":"spherocytosis, hereditary, 2","type":"related"},{"name":"spherocytosis, type 2","type":"exact"}],"termid":"MONDO:0000913","xrefs":{"Monarch":{"xref_id":"0000913"}}}


id: PBO:0079230
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"tetratricopeptide repeat domain 7A","termid":"PBO:0079230"}


id: GO:0086036
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the establishment or extent of a membrane potential in a cardiac muscle cell (a cardiomyocyte). A membrane potential is the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane.","definition_xrefs":["GOC:BHF","GOC:mtg_cardiac_conduct_nov11"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of membrane potential","termid":"GO:0042391"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"regulation of cardiac muscle cell membrane potential","termid":"GO:0086036"}


id: GO:0009371
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. Any process involving pheromones that activates or increases the rate of transcription.","definition_xrefs":["GOC:go_curators"],"gene_count":0,"genotype_count":0,"name":"obsolete positive regulation of transcription by pheromones (obsolete GO:0009371)","synonyms":[{"name":"activation of transcription by pheromones","type":"narrow"},{"name":"stimulation of transcription by pheromones","type":"narrow"},{"name":"up regulation of transcription by pheromones","type":"exact"},{"name":"up-regulation of transcription by pheromones","type":"exact"},{"name":"upregulation of transcription by pheromones","type":"exact"}],"termid":"GO:0009371"}


id: FYPO:0005111
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A molecular function phenotype in which the observed rate of ubiquitin-specific protease activity is abnormal.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal ubiquitinyl hydrolase activity","termid":"FYPO:0003111"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000661"},{"rel_name":"is_a","termid":"FYPO:0000654"},{"rel_name":"is_a","termid":"FYPO:0000707"},{"rel_name":"is_a","termid":"FYPO:0000652"},{"rel_name":"is_a","termid":"FYPO:0001985"}],"interesting_parent_ids":["FYPO:0000707","FYPO:0000652","FYPO:0001985","FYPO:0000661","FYPO:0000654"],"is_obsolete":false,"name":"abnormal ubiquitin-specific protease activity","termid":"FYPO:0005111"}


id: GO:0018219
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. The acetylation of peptidyl-cysteine to form peptidyl-S-acetyl-L-cysteine.","definition_xrefs":["RESID:AA0056"],"gene_count":0,"genotype_count":0,"name":"obsolete peptidyl-cysteine S-acetylation (obsolete GO:0018219)","termid":"GO:0018219"}


id: PBO:0058035
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 4256","termid":"PBO:0058035"}


id: GO:0046450
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways involving dethiobiotin, a derivative of biotin formed by replacing the sulfur atom by two hydrogen atoms.","definition_xrefs":["ISBN:0198506732"],"direct_ancestors":[{"relation_name":"is_a","term_name":"monocarboxylic acid metabolic process","termid":"GO:0032787"},{"relation_name":"is_a","term_name":"amide metabolic process","termid":"GO:0043603"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0044281"}],"interesting_parent_ids":["GO:0044281","GO:0008150"],"is_obsolete":false,"name":"dethiobiotin metabolic process","synonyms":[{"name":"desthiobiotin metabolic process","type":"exact"},{"name":"desthiobiotin metabolism","type":"exact"},{"name":"dethiobiotin metabolism","type":"exact"}],"termid":"GO:0046450"}


id: GO:1901142
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways involving insulin.","definition_xrefs":["GOC:TermGenie"],"direct_ancestors":[{"relation_name":"is_a","term_name":"protein metabolic process","termid":"GO:0019538"}],"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":"insulin metabolic process","synonyms":[{"name":"insulin metabolism","type":"exact"}],"termid":"GO:1901142"}


id: PBO:0002272
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"leucine-rich repeat protein, unknown","termid":"PBO:0002272"}


id: MONDO:0022647
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":"cardiomelic syndrome stratton Koehler type","termid":"MONDO:0022647","xrefs":{"Monarch":{"xref_id":"0022647"}}}


id: GO:0052560
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. Any process by which an organism activates the immune response of the symbiont organism; the immune response is any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. The symbiont is defined as the smaller of the organisms involved in a symbiotic interaction.","definition_xrefs":["GOC:mtg_pamgo"],"gene_count":0,"genotype_count":0,"name":"obsolete induction by organism of symbiont immune response (obsolete GO:0052560)","synonyms":[{"name":"induction by organism of symbiont immune response","type":"exact"}],"termid":"GO:0052560"}


id: GO:0050176
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: L-phenylalanine + acetyl-CoA = N-acetyl-L-phenylalanine + CoA + H+.","definition_xrefs":["EC:2.3.1.53","RHEA:17801"],"direct_ancestors":[{"relation_name":"is_a","term_name":"L-amino-acid N-acetyltransferase activity","termid":"GO:0140085"}],"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:0016746"},{"rel_name":"is_a","termid":"GO:0016740"}],"interesting_parent_ids":["GO:0003824","GO:0003674","GO:0016740","GO:0016746"],"is_obsolete":false,"name":"L-phenylalanine N-acetyltransferase activity","secondary_identifiers":["MetaCyc:PHENYLALANINE-N-ACETYLTRANSFERASE-RXN","KEGG_REACTION:R00693"],"synonyms":[{"name":"acetyl-CoA-L-phenylalanine alpha-N-acetyltransferase activity","type":"related"},{"name":"acetyl-CoA:L-phenylalanine N-acetyltransferase activity","type":"related"},{"name":"phenylalanine N-acetyltransferase activity","type":"exact"}],"termid":"GO:0050176"}


id: PATO:0002321
data:
  {"annotation_feature_type":"gene","cv_name":"quality","direct_ancestors":[{"relation_name":"is_a","term_name":"superelliptic","termid":"PATO:0002318"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"hypoelliptic","termid":"PATO:0002321"}


id: PBO:0005088
data:
  {"annotation_feature_type":"gene","cv_name":"DNA_binding_specificity","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"binds CSL response element 5'-GTG[G/A]GAA-3'","termid":"PBO:0005088"}


id: SO:0000223
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"A primary transcript encoding methionyl tRNA (SO:0000266).","definition_xrefs":["SO:ke"],"direct_ancestors":[{"relation_name":"is_a","term_name":"tRNA_primary_transcript","termid":"SO:0000210"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"methionine_tRNA_primary_transcript","synonyms":[{"name":"methionine tRNA primary transcript","type":"exact"}],"termid":"SO:0000223"}


id: PBO:0089695
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"vacuolar CorA family magnesium ion transmembrane transporter Mnr2","termid":"PBO:0089695"}


id: PBO:0043264
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"claudin 23","termid":"PBO:0043264"}


id: PBO:0084969
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"NAD(+)-dependent formate dehydrogenase; may protect cells from exogenous formate","termid":"PBO:0084969"}


id: PBO:0043228
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"cardiotrophin like cytokine factor 1","termid":"PBO:0043228"}


id: PBO:0061129
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"NMBR antisense RNA 1","termid":"PBO:0061129"}


id: GO:0051558
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways involving phlobaphenes, red pigments with oligomeric or polymeric structure derived from the flavonoid intermediate flavan-4-ols.","definition_xrefs":["PMID:11402179"],"direct_ancestors":[{"relation_name":"is_a","term_name":"pigment metabolic process","termid":"GO:0042440"}],"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":"phlobaphene metabolic process","synonyms":[{"name":"phlobaphene metabolism","type":"exact"}],"termid":"GO:0051558"}


id: PBO:0027653
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_phosphorylation_during_mitotic_S_phase_during_cellular_response_to_ionizing_radiation","termid":"PBO:0027653"}


id: GO:0071269
data:
  {"annotated_genes":["SJAG_02972"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[112482],"is_not":false,"summary":null,"term":"GO:0071269"}]},"cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the formation of L-homocysteine, the L-enantiomer of 2-amino-4-sulfanylbutanoic acid.","definition_xrefs":["GOC:ecd","GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"serine family amino acid biosynthetic process","termid":"GO:0009070"},{"relation_name":"is_a","term_name":"homocysteine biosynthetic process","termid":"GO:0071268"},{"relation_name":"is_a","term_name":"L-amino acid biosynthetic process","termid":"GO:0170034"}],"gene_count":1,"genes_by_uniquename":{"SJAG_02972":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"},{"rel_name":"is_a","termid":"GO:0006790"}],"interesting_parent_ids":["GO:0006790","GO:0044281","GO:0008150","GO:0006520"],"is_obsolete":false,"name":"L-homocysteine biosynthetic process","references_by_uniquename":{"GO_REF:0000107":null},"synonyms":[{"name":"L-homocysteine anabolism","type":"exact"},{"name":"L-homocysteine biosynthesis","type":"exact"},{"name":"L-homocysteine formation","type":"exact"},{"name":"L-homocysteine synthesis","type":"exact"}],"termid":"GO:0071269","terms_by_termid":{"GO:0071269":null}}


id: GO:0000126
data:
  {"annotated_genes":["SJAG_03007","SJAG_00421","SJAG_03120"],"annotation_feature_type":"gene","cv_annotations":{"cellular_component":[{"annotations":[73577,79354,97458],"is_not":false,"summary":null,"term":"GO:0000126"}]},"cv_name":"cellular_component","definition":"A transcription factor complex that is involved in regulating transcription from RNA polymerase III (Pol III) promoters. TFIIIB contains the TATA-binding protein (TBP) and two Pol III-specific proteins, B'' and BRF.","definition_xrefs":["PMID:11433012","GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"RNA polymerase III transcription regulator complex","termid":"GO:0090576"}],"gene_count":3,"genes_by_uniquename":{"SJAG_00421":null,"SJAG_03007":null,"SJAG_03120":null},"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":"transcription factor TFIIIB complex","references_by_uniquename":{"GO_REF:0000033":null,"GO_REF:0000107":null},"termid":"GO:0000126","terms_by_termid":{"GO:0000126":null}}


id: GO:0034393
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that activates or increases the frequency, rate, or extent of smooth muscle cell apoptotic process.","definition_xrefs":["GOC:BHF","GOC:mtg_apoptosis","GOC:rl"],"direct_ancestors":[{"relation_name":"is_a","term_name":"positive regulation of muscle cell apoptotic process","termid":"GO:0010661"},{"relation_name":"is_a","term_name":"regulation of smooth muscle cell apoptotic process","termid":"GO:0034391"},{"relation_name":"positively_regulates","term_name":"smooth muscle cell apoptotic process","termid":"GO:0034390"}],"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 smooth muscle cell apoptotic process","synonyms":[{"name":"activation of smooth muscle cell apoptosis","type":"narrow"},{"name":"positive regulation of SMC apoptosis","type":"exact"},{"name":"positive regulation of smooth muscle cell apoptosis","type":"narrow"},{"name":"stimulation of smooth muscle cell apoptosis","type":"narrow"},{"name":"up regulation of smooth muscle cell apoptosis","type":"exact"},{"name":"up-regulation of smooth muscle cell apoptosis","type":"exact"},{"name":"upregulation of smooth muscle cell apoptosis","type":"exact"}],"termid":"GO:0034393"}


id: FYPO:0007055
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  endosome organization is normal (i.e. indistinguishable from wild type).","definition_xrefs":["GO:0007032","PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"normal cellular process during vegetative growth","termid":"FYPO:0001319"},{"relation_name":"is_a","term_name":"normal cellular component organization","termid":"FYPO:0006003"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0001312"},{"rel_name":"is_a","termid":"FYPO:0000257"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0000002"}],"interesting_parent_ids":["FYPO:0001312","FYPO:0000257","FYPO:0000002","FYPO:0001320"],"is_obsolete":false,"name":"normal endosome organization","synonyms":[{"name":"during vegetative growth during mitotic cell cycle","type":"related"},{"name":"normal endosome organisation","type":"exact"},{"name":"normal endosome organization during vegetative growth","type":"exact"}],"termid":"FYPO:0007055"}


id: MONDO:0010781
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"DNA repair disease","termid":"MONDO:0021190"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0021190"},{"rel_name":"is_a","termid":"MONDO:0005066"}],"interesting_parent_ids":["MONDO:0021190","MONDO:0005066"],"is_obsolete":false,"name":"ataxia and polyneuropathy, adult-onset","secondary_identifiers":["OMIM:500010","UMLS:C1838916","DOID:0111750","MEDGEN:374087","MESH:C564020"],"termid":"MONDO:0010781","xrefs":{"Monarch":{"xref_id":"0010781"}}}


id: GO:2001175
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. Any process that activates or increases the frequency, rate or extent of histone H2B conserved C-terminal lysine ubiquitination.","definition_xrefs":["PMID:17576814"],"gene_count":0,"genotype_count":0,"name":"obsolete positive regulation of histone H2B conserved C-terminal lysine ubiquitination (obsolete GO:2001175)","synonyms":[{"name":"positive regulation of budding yeast H2B K123 ubiquitination","type":"related"},{"name":"positive regulation of fission yeast H2B K119 ubiquitination","type":"related"},{"name":"positive regulation of mammalian H2B K120 ubiquitination","type":"related"}],"termid":"GO:2001175"}


id: PBO:0075672
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"serine palmitoyltransferase long chain base subunit 3","termid":"PBO:0075672"}


id: PBO:0011452
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"HOPs/CORVET complex subunit Vps11 (predicted)","termid":"PBO:0011452"}


id: MONDO:0013942
data:
  {"annotated_genes":["SJAG_03440"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[89063],"is_not":false,"summary":null,"term":"MONDO:0013942"}]},"cv_name":"mondo","direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"peroxisome biogenesis disorder","termid":"MONDO:0019234"},{"relation_name":"is_a","term_name":"peroxisome biogenesis disorder due to PEX16 defect","termid":"MONDO:0100269"}],"gene_count":1,"genes_by_uniquename":{"SJAG_03440":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0006025"},{"rel_name":"is_a","termid":"MONDO:0005559"},{"rel_name":"is_a","termid":"MONDO:0005244"},{"rel_name":"is_a","termid":"MONDO:0005066"},{"rel_name":"is_a","termid":"MONDO:0019053"}],"interesting_parent_ids":["MONDO:0005066","MONDO:0005559","MONDO:0019053","MONDO:0006025","MONDO:0005244"],"is_obsolete":false,"name":"peroxisome biogenesis disorder 8A (Zellweger)","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["MEDGEN:766873","UMLS:C3553959","DOID:0080483","GARD:15869","OMIM:614876"],"synonyms":[{"name":"PBD8A","type":"related"},{"name":"peroxisome biogenesis disorder 8A (Zellweger)","type":"exact"},{"name":"peroxisome biogenesis disorder, complementation group 9","type":"related"},{"name":"peroxisome biogenesis disorder, complementation group D","type":"related"}],"termid":"MONDO:0013942","terms_by_termid":{"MONDO:0013942":null},"xrefs":{"Monarch":{"xref_id":"0013942"}}}


id: GO:0101026
data:
  {"annotated_genes":["SJAG_03313","SJAG_04883","SJAG_03219","SJAG_04509","SJAG_04319","SJAG_04972"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[89722,94918,99580,100248,111883,112295],"is_not":false,"summary":null,"term":"GO:0101026"}]},"cv_name":"biological_process","definition":"A process in which the nuclear inner or outer membrane is synthesized, aggregates, and bonds together during mitotic nuclear division.","definition_xrefs":["GOC:vw","PMID:26869222"],"direct_ancestors":[{"relation_name":"is_a","term_name":"membrane organization","termid":"GO:0061024"},{"relation_name":"is_a","term_name":"nuclear membrane biogenesis","termid":"GO:0101025"},{"relation_name":"is_a","term_name":"mitotic cell cycle process","termid":"GO:1903047"},{"relation_name":"part_of","term_name":"mitotic nuclear division","termid":"GO:0140014"}],"gene_count":6,"genes_by_uniquename":{"SJAG_03219":null,"SJAG_03313":null,"SJAG_04319":null,"SJAG_04509":null,"SJAG_04883":null,"SJAG_04972":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0061024"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0044085"},{"rel_name":"part_of","termid":"GO:0061024"},{"rel_name":"part_of","termid":"GO:0007049"}],"interesting_parent_ids":["GO:0044085","GO:0007049","GO:0061024","GO:0008150"],"is_obsolete":false,"name":"mitotic nuclear membrane biogenesis","references_by_uniquename":{"GO_REF:0000107":null},"synonyms":[{"name":"nuclear membrane biogenesis involved in mitotic nuclear division","type":"exact"}],"termid":"GO:0101026","terms_by_termid":{"GO:0101026":null}}


id: MONDO:0012298
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":"omphalocele, diaphragmatic hernia, and radial ray defects","secondary_identifiers":["MESH:C563701","OMIM:609545","UMLS:C1836007","MEDGEN:332105"],"synonyms":[{"name":"Gershoni-Baruch syndrome","type":"related"},{"name":"omphalocele, diaphragmatic hernia, and radial ray defects","type":"exact"}],"termid":"MONDO:0012298","xrefs":{"Monarch":{"xref_id":"0012298"}}}


id: PBO:0074215
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"solute carrier family 44 member 1","termid":"PBO:0074215"}


id: PBO:0079158
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"tetraspanin 17","termid":"PBO:0079158"}


id: PBO:0083202
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; completely overlaps the verified gene RPS27A; identified by gene-trapping, microarray-based expression analysis, and genome-wide homology searching","termid":"PBO:0083202"}


id: PBO:0071201
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein L23a pseudogene 42","termid":"PBO:0071201"}


id: GO:0014890
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"A process, occurring in smooth muscle, that is characterized by a decrease in protein content, fiber diameter, force production and fatigue resistance in response to different conditions such as starvation, aging and disuse.","definition_xrefs":["GOC:mtg_muscle"],"direct_ancestors":[{"relation_name":"is_a","term_name":"smooth muscle adaptation","termid":"GO:0014805"},{"relation_name":"is_a","term_name":"muscle atrophy","termid":"GO:0014889"}],"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":"smooth muscle atrophy","termid":"GO:0014890"}


id: PBO:0083910
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"FMN-dependent NAD(P)H:quinone reductase; role in apoptosis-like cell death; may be involved in quinone detoxification; expression elevated at low temperature; sequesters the Cin5p transcription factor in the cytoplasm in complex with the proteasome under reducing conditions","termid":"PBO:0083910"}


id: PBO:0031417
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-abnormal_cell_adhesion_during_vegetative_growth","termid":"PBO:0031417"}


id: PBO:0049133
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"G protein pathway suppressor 1","termid":"PBO:0049133"}


id: GO:0061842
data:
  {"annotated_genes":["SJAG_04558","SJAG_05196","SJAG_01422","SJAG_03200","SJAG_01460","SJAG_02332"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[114833,102512,113416,91974,104741,105378],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0140480"}]},"cv_name":"biological_process","definition":"Any process in which the microtubule organizing center is transported to, and/or maintained in, a specific location within the cell.","definition_xrefs":["PMID:21281821"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cellular process","termid":"GO:0009987"},{"relation_name":"is_a","term_name":"localization","termid":"GO:0051179"}],"gene_count":6,"genes_by_uniquename":{"SJAG_01422":null,"SJAG_01460":null,"SJAG_02332":null,"SJAG_03200":null,"SJAG_04558":null,"SJAG_05196":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0051179"}],"interesting_parent_ids":["GO:0051179","GO:0008150"],"is_obsolete":false,"name":"microtubule organizing center localization","references_by_uniquename":{"GO_REF:0000107":null},"synonyms":[{"name":"MTOC localization","type":"exact"},{"name":"MTOC polarity","type":"narrow"},{"name":"microtubule organizing center polarity","type":"narrow"}],"termid":"GO:0061842","terms_by_termid":{"GO:0140480":null}}


id: MONDO:1012879
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Ichthyosis that occurs in dogs due to a mutation in the ABHD5 gene.","definition_xrefs":["MONDO:patterns/nonhuman_disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"hereditary disease, non-human animal","termid":"MONDO:1011321"},{"relation_name":"is_a","term_name":"ichthyosis, dog","termid":"MONDO:1012978"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ichthyosis, ABHD5-related, dog","secondary_identifiers":["OMIA:002368-9615"],"termid":"MONDO:1012879","xrefs":{"Monarch":{"xref_id":"1012879"}}}


id: GO:0051901
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that activates, maintains or increases the frequency, rate or extent of the change in the membrane potential of the mitochondria from negative to positive.","definition_xrefs":["GOC:ai"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of mitochondrial depolarization","termid":"GO:0051900"},{"relation_name":"is_a","term_name":"positive regulation of membrane depolarization","termid":"GO:1904181"},{"relation_name":"positively_regulates","term_name":"mitochondrial depolarization","termid":"GO:0051882"}],"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 mitochondrial depolarization","synonyms":[{"name":"activation of mitochondrial depolarization","type":"narrow"},{"name":"stimulation of mitochondrial depolarization","type":"narrow"},{"name":"up regulation of mitochondrial depolarization","type":"exact"},{"name":"up-regulation of mitochondrial depolarization","type":"exact"},{"name":"upregulation of mitochondrial depolarization","type":"exact"}],"termid":"GO:0051901"}


id: PBO:0086330
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Protein with WD-40 repeats involved in rRNA processing; associates with rDNA chromatin in H4-tail-dependent manner; associates with trans-acting ribosome biogenesis factors; similar to beta-transducin superfamily","termid":"PBO:0086330"}


id: FYPO:0007950
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A biological process phenotype in which the observed mating efficiency, as determined by counting zygotes, asci, and sometimes spores, is higher than normal when a cell is subject to nitrogen stress.","definition_xrefs":["PomBase:val"],"direct_ancestors":[{"relation_name":"is_a","term_name":"increased mating efficiency","termid":"FYPO:0001043"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000003"},{"rel_name":"is_a","termid":"FYPO:0001985"}],"interesting_parent_ids":["FYPO:0000003","FYPO:0001985"],"is_obsolete":false,"name":"increased mating efficency during nitrogen stress","termid":"FYPO:0007950"}


id: PBO:0075833
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"somatostatin receptor 1","termid":"PBO:0075833"}


id: PBO:0004564
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"leucine-rich repeat protein Sog2 (predicted)","termid":"PBO:0004564"}


id: PBO:0003771
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Set1C complex subunit Swd2.1","termid":"PBO:0003771"}


id: PBO:0044618
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"discoidin, CUB and LCCL domain containing 1","termid":"PBO:0044618"}


id: PBO:0079660
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"UBE2V1 pseudogene 8","termid":"PBO:0079660"}


id: MONDO:0010180
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterized by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.","definition_xrefs":["Orphanet:2311"],"direct_ancestors":[{"relation_name":"is_a","term_name":"spondylocostal dysostosis","termid":"MONDO:0000359"},{"relation_name":"is_a","term_name":"autosomal recessive disease","termid":"MONDO:0006025"},{"relation_name":"is_a","term_name":"disorder of fucoglycosan synthesis","termid":"MONDO:0017747"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0024322"},{"rel_name":"is_a","termid":"MONDO:0005066"},{"rel_name":"is_a","termid":"MONDO:0005497"},{"rel_name":"is_a","termid":"MONDO:0006025"}],"interesting_parent_ids":["MONDO:0024322","MONDO:0005497","MONDO:0006025","MONDO:0005066"],"is_obsolete":false,"name":"autosomal recessive spondylocostal dysostosis","secondary_identifiers":["GARD:6798","MESH:C535781","ICD9:756.9","SCTID:61367005"],"synonyms":[{"name":"Jarcho-Levin syndrome","type":"exact"},{"name":"SCDO1","type":"related"},{"name":"costovertebral dysplasia","type":"related"},{"name":"spondylocostal dysostosis 1, autosomal recessive","type":"related"},{"name":"spondylocostal dysostosis, autosomal recessive","type":"exact"}],"termid":"MONDO:0010180","xrefs":{"Monarch":{"xref_id":"0010180"}}}


id: PBO:0050330
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"heterogeneous nuclear ribonucleoprotein A1 pseudogene 32","termid":"PBO:0050330"}


id: PBO:0030639
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-normal_growth_on_fructose_carbon_source","termid":"PBO:0030639"}


id: PR:O42904
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A U4/U6 small nuclear ribonucleoprotein Prp31 that is encoded in the genome of Schizosaccharomyces pombe 972h-.","definition_xrefs":["OMA:SCHPO02570","PANTHER:PTHR13904:SF0","PRO:DNx"],"direct_ancestors":[{"relation_name":"is_a","term_name":"Schizosaccharomyces pombe 972h- protein","termid":"PR:000029043"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"pre-mRNA-processing factor 31 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPBC119.13c","secondary_identifiers":["UniProtKB:O42904"],"synonyms":[{"name":"Spom972h-PRPF31","type":"exact"}],"termid":"PR:O42904"}


id: PBO:0018127
data:
  {"annotation_feature_type":"gene","cv_name":"disease_associated","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Coffin-Lowry Syndrome","termid":"PBO:0018127"}


id: PBO:0042321
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"CD40 ligand","termid":"PBO:0042321"}


id: PBO:0001920
data:
  {"annotation_feature_type":"gene","cv_name":"EC numbers","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"1.1.1.100","termid":"PBO:0001920"}


id: MONDO:0002868
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A mucinous cystic neoplasm that arises from the intrahepatic or extrahepatic bile ducts and it is associated with an invasive carcinomatous component.","definition_xrefs":["NCIT:C4130"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"bile duct adenocarcinoma","termid":"MONDO:0003193"},{"relation_name":"excluded_subClassOf","term_name":"cystadenocarcinoma","termid":"MONDO:0005596"},{"relation_name":"is_a","term_name":"bile duct cystadenoma","termid":"MONDO:0003420"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0002515"},{"rel_name":"is_a","termid":"MONDO:0004335"}],"interesting_parent_ids":["MONDO:0004335","MONDO:0002515"],"is_obsolete":false,"name":"bile duct mucinous cystic neoplasm with an associated invasive carcinoma","secondary_identifiers":["ICDO:8161/3","MEDGEN:137737","DOID:4075","UMLS:C0334286"],"synonyms":[{"name":"bile duct cystadenocarcinoma","type":"exact"},{"name":"bile duct cystadenocarcinoma (morphologic abnormality)","type":"exact"},{"name":"bile duct mucinous cystic neoplasm with an associated invasive carcinoma","type":"exact"},{"name":"biliary cystadenocarcinoma","type":"broad"},{"name":"cystadenocarcinoma of bile duct","type":"exact"},{"name":"cystadenocarcinoma of the bile duct","type":"exact"}],"termid":"MONDO:0002868","xrefs":{"Monarch":{"xref_id":"0002868"}}}


id: GO:0052088
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"A process in which a symbiont alters or subverts a jasmonic acid-mediated signal transduction pathway in its host. The host is defined as the larger of the organisms involved in a symbiotic interaction.","definition_xrefs":["PMID:29222513","GOC:mtg_pamgo_17jul06","PMID:35698792"],"direct_ancestors":[{"relation_name":"is_a","term_name":"symbiont-mediated perturbation of host signal transduction pathway","termid":"GO:0052027"},{"relation_name":"is_a","term_name":"symbiont-mediated perturbation of host innate immune response","termid":"GO:0052167"}],"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 perturbation of host jasmonic acid signaling","secondary_identifiers":["GO:0052283","GO:0052271","GO:0052266","GO:0052073","GO:0052068","GO:0052267","GO:0052069","GO:0052443","GO:0052082"],"synonyms":[{"name":"activation by organism of defense-related host SA-mediated signal transduction pathway","type":"narrow"},{"name":"activation by organism of defense-related host jasmonic acid-mediated signal transduction pathway","type":"narrow"},{"name":"activation by symbiont of defense-related host jasmonic acid-mediated signal transduction pathway","type":"narrow"},{"name":"down regulation by symbiont of host jasmonic acid-mediated defense response","type":"narrow"},{"name":"down-regulation by symbiont of host jasmonic acid-mediated defense response","type":"narrow"},{"name":"downregulation by symbiont of host jasmonic acid-mediated defense response","type":"narrow"},{"name":"induction by organism of defense-related host SA-mediated signal transduction pathway","type":"narrow"},{"name":"induction by organism of defense-related host jasmonic acid-mediated signal transduction pathway","type":"narrow"},{"name":"induction by symbiont of defense-related host jasmonic acid-mediated signal transduction pathway","type":"narrow"},{"name":"inhibition by symbiont of host jasmonic acid-mediated defense response","type":"narrow"},{"name":"modulation by organism of defense-related jasmonic acid-mediated signal transduction pathway in other organism involved in symbiotic interaction","type":"narrow"},{"name":"modulation by organism of host JA-mediated defense response","type":"narrow"},{"name":"modulation by organism of jasmonic acid-mediated defense response of other organism involved in symbiotic interaction","type":"narrow"},{"name":"modulation by symbiont of defense-related host jasmonic acid-mediated signal transduction pathway","type":"narrow"},{"name":"negative regulation by organism of defense-related jasmonic acid-mediated signal transduction pathway in other organism involved in symbiotic interaction","type":"narrow"},{"name":"negative regulation by organism of jasmonic acid-mediated defense response of other organism involved in symbiotic interaction","type":"narrow"},{"name":"negative regulation by symbiont of defense-related host jasmonic acid-mediated signal transduction pathway","type":"narrow"},{"name":"negative regulation by symbiont of host jasmonic acid-mediated defense response","type":"narrow"},{"name":"positive regulation by organism of defense-related host SA-mediated signal transduction pathway","type":"narrow"},{"name":"positive regulation by organism of defense-related jasmonic acid-mediated signal transduction pathway in other organism involved in symbiotic interaction","type":"narrow"},{"name":"positive regulation by symbiont of defense-related host jasmonic acid-mediated signal transduction pathway","type":"narrow"},{"name":"stimulation by symbiont of defense-related host jasmonic acid-mediated signal transduction pathway","type":"narrow"},{"name":"suppression by organism of host JA-mediated defense response","type":"exact"},{"name":"suppression by symbiont of host jasmonic acid-mediated defense response","type":"related"},{"name":"symbiont defense to host-produced jasmonic acid","type":"exact"},{"name":"up regulation by symbiont of defense-related host jasmonic acid-mediated signal transduction pathway","type":"narrow"},{"name":"up-regulation by symbiont of defense-related host jasmonic acid-mediated signal transduction pathway","type":"narrow"},{"name":"upregulation by organism of defense-related host SA-mediated signal transduction pathway","type":"narrow"},{"name":"upregulation by organism of defense-related host jasmonic acid-mediated signal transduction pathway","type":"narrow"},{"name":"upregulation by symbiont of defense-related host jasmonic acid-mediated signal transduction pathway","type":"narrow"}],"termid":"GO:0052088"}


id: PBO:0070615
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein L7a pseudogene 83","termid":"PBO:0070615"}


id: PBO:0057748
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 1843","termid":"PBO:0057748"}


id: MONDO:1012579
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A group of inherited disorders of melanin synthesis, characterized by hypopigmentation of skin, hair and eyes.","definition_xrefs":["PMID:28973042"],"direct_ancestors":[{"relation_name":"is_a","term_name":"disorder of orbital region, non-human animal","termid":"MONDO:1011315"},{"relation_name":"is_a","term_name":"hereditary disease, non-human animal","termid":"MONDO:1011321"},{"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":"oculocutaneous albinism, non-human animal","termid":"MONDO:1012579","xrefs":{"Monarch":{"xref_id":"1012579"}}}


id: PBO:0011108
data:
  {"annotation_feature_type":"gene","cv_name":"disease_associated","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Baller-Gerold syndrome","termid":"PBO:0011108"}


id: PBO:0070667
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein L7 pseudogene 38","termid":"PBO:0070667"}


id: FYPO:0007588
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 late endosomes does not occur.","definition_xrefs":["PMID:19624755","PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal protein localization to endosome","termid":"FYPO:0007587"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0000138"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0001985"}],"interesting_parent_ids":["FYPO:0000138","FYPO:0005447","FYPO:0001320","FYPO:0001985","FYPO:0000002"],"is_obsolete":false,"name":"abolished protein localization to late endosome","synonyms":[{"name":"abolished protein localisation to late endosome","type":"exact"},{"name":"abolished protein localization to PVE","type":"exact"},{"name":"abolished protein localization to late endosome during mitotic cell cycle","type":"related"},{"name":"abolished protein localization to late endosome during vegetative growth","type":"exact"},{"name":"abolished protein localization to prevacuolar compartment","type":"exact"},{"name":"abolished protein localization to prevacuolar endosome","type":"exact"},{"name":"protein localization to late endosome abolished","type":"exact"}],"termid":"FYPO:0007588"}


id: PBO:0057275
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 498","termid":"PBO:0057275"}


id: GO:0075065
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. The increase in size or mass of symbiont, or the progression of the symbiont from an initial condition to a later condition, occurring in its host's cell. 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 growth or development of symbiont in host cell (obsolete GO:0075065)","synonyms":[{"name":"growth or development of symbiont in host cell","type":"exact"}],"termid":"GO:0075065"}


id: GO:0102981
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"OBSOLETE. Catalysis of the reaction: 4-hydroxy-5-methyl-2-propyl-3(2H)-furanone + NADP = (2E)-4-hydroxy-5-methyl-2-propylidene-3(2H)-furanone + NADPH + H+.","definition_xrefs":["GOC:pz","EC:1.3.1.-"],"gene_count":0,"genotype_count":0,"name":"obsolete 4-hydroxy-5-methyl-2-propyl-3(2H)-furanone oxidoreductase activity (obsolete GO:0102981)","termid":"GO:0102981"}


id: MONDO:0019266
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"SAPHO syndrome (acronym for Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) is an auto-inflammatory disease, mainly characterized by the association of neutrophilic cutaneous involvement and chronic osteomyelitis.","definition_xrefs":["Orphanet:793"],"direct_ancestors":[{"relation_name":"is_a","term_name":"autoinflammatory syndrome","termid":"MONDO:0019751"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"SAPHO syndrome","secondary_identifiers":["EFO:1001164","icd11.foundation:1901494067","ICD9:706.1","NCIT:C119049","MedDRA:10051316","GARD:7606","SCTID:60684003","MEDGEN:120490","DOID:13677","MESH:D020083","UMLS:C0263859"],"synonyms":[{"name":"PPHS","type":"exact"},{"name":"Pustulo-psoriatic hyperostotic Spondyloarthritis","type":"exact"},{"name":"acquired hyperostosis syndrome","type":"related"},{"name":"synovitis acne pustulosis hyperostosis osteitis","type":"related"},{"name":"synovitis, acne, Pustlosis, hyperostosis, and osteomyelitis","type":"related"},{"name":"synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome","type":"exact"},{"name":"synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome","type":"exact"},{"name":"synovitis-acne-pustulosis-hyperostosis-osteitis syndrome","type":"exact"}],"termid":"MONDO:0019266","xrefs":{"Monarch":{"xref_id":"0019266"}}}


id: GO:0021647
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"A developmental process, independent of morphogenetic (shape) change, that is required for the vestibulocochlear nerve to attain its fully functional state. This sensory nerve innervates the membranous labyrinth of the inner ear. The vestibular branch innervates the vestibular apparatus that senses head position changes relative to gravity. The auditory branch innervates the cochlear duct, which is connected to the three bony ossicles which transduce sound waves into fluid movement in the cochlea.","definition_xrefs":["ISBN:0838580343","GOC:dgh","GO_REF:0000021","GOC:cls","GOC:jid","GOC:dph"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cranial nerve maturation","termid":"GO:0021605"},{"relation_name":"part_of","term_name":"vestibulocochlear nerve development","termid":"GO:0021562"}],"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":"vestibulocochlear nerve maturation","synonyms":[{"name":"CN VIII maturation","type":"related"},{"name":"auditory nerve maturation","type":"related"}],"termid":"GO:0021647"}


id: MONDO:0007416
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube river in the Balkans. It leads to end-stage renal disease.","definition_xrefs":["NCIT:P378"],"direct_ancestors":[{"relation_name":"is_a","term_name":"interstitial nephritis","termid":"MONDO:0001085"},{"relation_name":"is_a","term_name":"hereditary nephritis","termid":"MONDO:0005334"}],"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":"Balkan nephropathy","secondary_identifiers":["UMLS:C0004698","EFO:0007164","DOID:3052","NCIT:C123025","ICD9:583.89","ICD10CM:N15.0","MEDGEN:495","icd11.foundation:18497836","OMIM:124100","MESH:D001449","SCTID:26121002"],"synonyms":[{"name":"AAN","type":"related"},{"name":"BEN","type":"related"},{"name":"Balkan endemic nephropathy","type":"exact"},{"name":"Chinese herb endemic nephropathy","type":"exact"},{"name":"DEFN","type":"related"},{"name":"Danubian endemic familial nephropathy","type":"exact"},{"name":"aristolochic acid nephropathy","type":"exact"},{"name":"endemic nephropathy","type":"exact"},{"name":"nephropathia epidemica","type":"related"}],"termid":"MONDO:0007416","xrefs":{"Monarch":{"xref_id":"0007416"}}}


id: SO:0002005
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"The determinant of selective removal (DSR) motif consists of repeats of U(U/C)AAAC. The motif targets meiotic transcripts for removal during mitosis via the exosome.","definition_xrefs":["PMID:22645662"],"direct_ancestors":[{"relation_name":"is_a","term_name":"DNA_motif","termid":"SO:0000713"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"DSR_motif","synonyms":[{"name":"DSR motif","type":"exact"}],"termid":"SO:0002005"}


id: PBO:0091435
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Alpha/Beta hydrolase fold, DUF1749 family protein","termid":"PBO:0091435"}


id: PBO:0040263
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"autophagy related 16 like 2","termid":"PBO:0040263"}


id: FYPO:0006934
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 one or more triglycerides measured in a cell 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 cell during vegetative growth","termid":"FYPO:0001316"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000257"},{"rel_name":"is_a","termid":"FYPO:0001312"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0001320"}],"interesting_parent_ids":["FYPO:0001312","FYPO:0001320","FYPO:0000257","FYPO:0000002"],"is_obsolete":false,"name":"normal cellular triglyceride level","synonyms":[{"name":"normal cellular TAG level","type":"exact"},{"name":"normal cellular triacylglycerol level","type":"exact"},{"name":"normal cellular triglyceride accumulation","type":"related"},{"name":"normal cellular triglyceride level during mitotic cell cycle","type":"related"},{"name":"normal cellular triglyceride level during vegetative growth","type":"exact"}],"termid":"FYPO:0006934"}


id: GO:1902834
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of proline import into cell.","definition_xrefs":["PMID:24344203","GOC:TermGenie","GO_REF:0000058"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of amino acid import across plasma membrane","termid":"GO:0010958"},{"relation_name":"is_a","term_name":"regulation of organic acid transport","termid":"GO:0032890"},{"relation_name":"regulates","term_name":"proline import across plasma membrane","termid":"GO:1905647"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"regulates","termid":"GO:0055085"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"regulates","termid":"GO:0006810"}],"interesting_parent_ids":["GO:0006810","GO:0055085","GO:0008150"],"is_obsolete":false,"name":"regulation of proline import across plasma membrane","synonyms":[{"name":"regulation of proline import into cell","type":"exact"}],"termid":"GO:1902834"}


id: GO:0045635
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents, or reduces the frequency, rate or extent of melanocyte differentiation.","definition_xrefs":["GOC:go_curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of melanocyte differentiation","termid":"GO:0045634"},{"relation_name":"is_a","term_name":"negative regulation of pigment cell differentiation","termid":"GO:0050941"},{"relation_name":"negatively_regulates","term_name":"melanocyte differentiation","termid":"GO:0030318"}],"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 melanocyte differentiation","synonyms":[{"name":"down regulation of melanocyte differentiation","type":"exact"},{"name":"down-regulation of melanocyte differentiation","type":"exact"},{"name":"downregulation of melanocyte differentiation","type":"exact"},{"name":"inhibition of melanocyte differentiation","type":"narrow"},{"name":"negative regulation of melanophore differentiation","type":"exact"}],"termid":"GO:0045635"}


id: PR:Q10267
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- upf3 gene.","definition_xrefs":["PRO:DNx","UniProtKB:Q10267"],"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":"nonsense-mediated mRNA decay protein 3 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAC13G7.03","synonyms":[{"name":"Spom972h-upf3","type":"exact"},{"name":"up-frameshift suppressor 3 (Schizosaccharomyces pombe 972h-)","type":"exact"}],"termid":"PR:Q10267"}


id: GO:0046611
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"A proton-transporting two-sector ATPase complex found in the lysosomal membrane, where it acts as a proton pump to mediate acidification of the lysosomal lumen.","definition_xrefs":["ISBN:0716743663","GOC:mah","PMID:16449553"],"direct_ancestors":[{"relation_name":"is_a","term_name":"vacuolar proton-transporting V-type ATPase complex","termid":"GO:0016471"},{"relation_name":"part_of","term_name":"lysosomal membrane","termid":"GO:0005765"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0032991"},{"rel_name":"part_of","termid":"GO:0005773"},{"rel_name":"is_a","termid":"GO:0005575"},{"rel_name":"part_of","termid":"GO:0005737"}],"interesting_parent_ids":["GO:0005737","GO:0032991","GO:0005773","GO:0005575"],"is_obsolete":false,"name":"lysosomal proton-transporting V-type ATPase complex","synonyms":[{"name":"lysosomal hydrogen-translocating V-type ATPase complex","type":"exact"},{"name":"lysosomal membrane hydrogen-transporting ATPase","type":"broad"}],"termid":"GO:0046611"}


id: GO:0140722
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the formation of mycophenolic acid (MPA). MPA is the first isolated antibiotic natural product in the world obtained from a culture of Penicillium brevicompactum in 1893.","definition_xrefs":["PMID:21398490","PMID:26751579","PMID:31209052"],"direct_ancestors":[{"relation_name":"is_a","term_name":"antibiotic biosynthetic process","termid":"GO:0017000"},{"relation_name":"is_a","term_name":"polyketide biosynthetic process","termid":"GO:0030639"},{"relation_name":"is_a","term_name":"mycotoxin biosynthetic process","termid":"GO:0043386"},{"relation_name":"is_a","term_name":"phenol-containing compound biosynthetic process","termid":"GO:0046189"},{"relation_name":"is_a","term_name":"monocarboxylic acid biosynthetic process","termid":"GO:0072330"},{"relation_name":"is_a","term_name":"lactone biosynthetic process","termid":"GO:1901336"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0044281"},{"rel_name":"is_a","termid":"GO:0019748"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0044281","GO:0019748","GO:0008150"],"is_obsolete":false,"name":"mycophenolic acid biosynthetic process","synonyms":[{"name":"MPA anabolism","type":"broad"},{"name":"MPA biosynthesis","type":"broad"},{"name":"MPA formation","type":"broad"},{"name":"MPA synthesis","type":"broad"},{"name":"mycophenolic acid anabolism","type":"exact"},{"name":"mycophenolic acid biosynthesis","type":"exact"},{"name":"mycophenolic acid formation","type":"exact"},{"name":"mycophenolic acid synthesis","type":"exact"}],"termid":"GO:0140722"}


id: PBO:0117148
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"TSPAN16 antisense RNA 1","termid":"PBO:0117148"}


id: PBO:0058635
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 6767","termid":"PBO:0058635"}


id: MONDO:0013904
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"muscular dystrophy-dystroglycanopathy, type A","termid":"MONDO:0000171"},{"relation_name":"is_a","term_name":"congenital muscular dystrophy caused by variation in POMGNT2","termid":"MONDO:0700075"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005336"},{"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:0005336","MONDO:0002320","MONDO:0024322"],"is_obsolete":false,"name":"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8","secondary_identifiers":["OMIM:614830","GARD:15846","UMLS:C3553813","DOID:0111231","MEDGEN:766727"],"synonyms":[{"name":"MDDGA8","type":"related"},{"name":"POMGNT2 muscular dystrophy-dystroglycanopathy, type A","type":"exact"},{"name":"Walker-Warburg syndrome or muscle-eye-brain disease, Gtdc2-related","type":"related"},{"name":"muscle-eye-brain-POMGNT2 related","type":"exact"},{"name":"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8","type":"related"},{"name":"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8","type":"exact"},{"name":"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8","type":"exact"},{"name":"muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMGNT2","type":"exact"}],"termid":"MONDO:0013904","xrefs":{"Monarch":{"xref_id":"0013904"}}}


id: PBO:0027043
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-decreased_glucose_consumption","termid":"PBO:0027043"}


id: PBO:0005430
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"mitochondrial ribosomal protein subunit L37 (predicted)","termid":"PBO:0005430"}


id: GO:0060068
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The reproductive developmental process whose specific outcome is the progression of the vagina over time, from its formation to the mature structure.","definition_xrefs":["GOC:ebc","GOC:dph"],"direct_ancestors":[{"relation_name":"is_a","term_name":"female genitalia development","termid":"GO:0030540"}],"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":"vagina development","termid":"GO:0060068"}


id: MOD:01480
data:
  {"annotation_feature_type":"gene","cv_name":"PSI-MOD","definition":"A protein modification that effectively converts an L-tryptophan residue into an 5'-fluoro-L-tryptophan.","definition_xrefs":["PubMed:8172898","PubMed:18688235"],"direct_ancestors":[{"relation_name":"is_a","term_name":"monofluorinated L-tryptophan","termid":"MOD:01226"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"5'-fluoro-L-tryptophan","synonyms":[{"name":"5-fluorotryptophan","type":"exact"}],"termid":"MOD:01480"}


id: PBO:0055434
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 2864","termid":"PBO:0055434"}


id: GO:0034705
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"An ion channel complex through which potassium ions pass.","definition_xrefs":["GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cation channel complex","termid":"GO:0034703"}],"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:0032991","GO:0005575"],"is_obsolete":false,"name":"potassium channel complex","termid":"GO:0034705"}


id: GO:0010412
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways involving mannan, a group of polysaccharides containing a backbone composed of a polymer of D-mannose units.","definition_xrefs":["GOC:tair_curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cell wall polysaccharide metabolic process","termid":"GO:0010383"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005975"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"part_of","termid":"GO:0071554"}],"interesting_parent_ids":["GO:0071554","GO:0005975","GO:0008150"],"is_obsolete":false,"name":"mannan metabolic process","synonyms":[{"name":"mannan metabolism","type":"exact"}],"termid":"GO:0010412"}


id: GO:2001217
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. Any process that modulates the frequency, rate or extent of S/G2 transition of mitotic cell cycle.","definition_xrefs":["GOC:mtg_cell_cycle","GOC:obol"],"gene_count":0,"genotype_count":0,"name":"obsolete regulation of S/G2 transition of mitotic cell cycle (obsolete GO:2001217)","synonyms":[{"name":"regulation of S/G2 transition of mitotic cell cycle","type":"exact"}],"termid":"GO:2001217"}


id: PBO:0079149
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"tetraspanin 10","termid":"PBO:0079149"}


id: RO:0002258
data:
  {"annotation_feature_type":"gene","cv_name":"relationship","definition":"Candidate definition: x developmentally related to y if and only if there exists some developmental process (GO:0032502) p such that x and y both participates in p, and x is the output of p and y is the input of p","direct_ancestors":[{"relation_name":"is_a","term_name":"developmentally_related_to","termid":"RO:0002324"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"developmentally_preceded_by","termid":"RO:0002258"}


id: GO:0006583
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the formation of melanin from other compounds, including tyrosine.","definition_xrefs":["GOC:go_curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"tyrosine metabolic process","termid":"GO:0006570"},{"relation_name":"is_a","term_name":"melanin biosynthetic process","termid":"GO:0042438"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0006520"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0044281"},{"rel_name":"is_a","termid":"GO:0019748"}],"interesting_parent_ids":["GO:0019748","GO:0006520","GO:0044281","GO:0008150"],"is_obsolete":false,"name":"melanin biosynthetic process from tyrosine","synonyms":[{"name":"melanin anabolism from tyrosine","type":"exact"},{"name":"melanin formation from tyrosine","type":"exact"},{"name":"melanin synthesis from tyrosine","type":"exact"}],"termid":"GO:0006583"}


id: PBO:0054519
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 1919","termid":"PBO:0054519"}


id: PBO:0034707
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"rRNA methyltransferase Tgs1","termid":"PBO:0034707"}


id: MONDO:0009831
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A malignant neoplasm involving the pancreas.","direct_ancestors":[{"relation_name":"is_a","term_name":"digestive system cancer","termid":"MONDO:0002516"},{"relation_name":"is_a","term_name":"pancreatic neoplasm","termid":"MONDO:0021040"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0004992"},{"rel_name":"is_a","termid":"MONDO:0004335"}],"interesting_parent_ids":["MONDO:0004992","MONDO:0004335"],"is_obsolete":false,"name":"malignant pancreatic neoplasm","secondary_identifiers":["DOID:1793","NCIT:C9005","ICD9:157.8","ICD9:157.0","ICD9:157.2","EFO:1000359","ICD9:157.1"],"synonyms":[{"name":"Ca body of pancreas","type":"exact"},{"name":"Ca head of pancreas","type":"exact"},{"name":"Ca tail of pancreas","type":"exact"},{"name":"cancer of pancreas","type":"exact"},{"name":"malignant neoplasm of body of pancreas","type":"exact"},{"name":"malignant neoplasm of head of pancreas","type":"exact"},{"name":"malignant neoplasm of pancreas","type":"exact"},{"name":"malignant neoplasm of tail of pancreas","type":"exact"},{"name":"malignant neoplasm of the pancreas","type":"exact"},{"name":"malignant pancreas neoplasm","type":"exact"},{"name":"malignant pancreatic neoplasm","type":"exact"},{"name":"pancreas cancer","type":"exact"},{"name":"pancreas neoplasm","type":"broad"},{"name":"pancreatic cancer","type":"exact"},{"name":"pancreatic tumour","type":"related"}],"termid":"MONDO:0009831","xrefs":{"Monarch":{"xref_id":"0009831"}}}


id: PBO:0091163
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"UBA domain protein Dph1/Dsk2","termid":"PBO:0091163"}


id: GO:0046857
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of an oxidation-reduction (redox) reaction in which a nitrogenous group, excluding NH and NH2 groups, acts as a hydrogen or electron donor and reduces NAD or NADP.","definition_xrefs":["EC:1.7.1.-","GOC:jl"],"direct_ancestors":[{"relation_name":"is_a","term_name":"oxidoreductase activity, acting on other nitrogenous compounds as donors","termid":"GO:0016661"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0016491"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0003674","GO:0003824","GO:0016491"],"is_obsolete":false,"name":"oxidoreductase activity, acting on other nitrogenous compounds as donors, with NAD or NADP as acceptor","termid":"GO:0046857"}


id: MONDO:0017748
data:
  {"annotated_genes":["SJAG_00846","SJAG_03115","SJAG_00068","SJAG_02523","SJAG_04165","SJAG_00295","SJAG_06383","SJAG_03506","SJAG_04975","SJAG_04881","SJAG_01416"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[87011],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0010221"},{"annotations":[87047],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0012465"},{"annotations":[88158],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0009398"},{"annotations":[87997],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0013882"},{"annotations":[88423],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0014318"},{"annotations":[88701],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0014457"},{"annotations":[87605],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0014780"},{"annotations":[87440],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0014832"},{"annotations":[87799],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0013563"},{"annotations":[88728],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0010466"},{"annotations":[87794],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0014165"}]},"cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"inherited lipid metabolism disorder","termid":"MONDO:0002525"},{"relation_name":"is_a","term_name":"congenital disorder of glycosylation","termid":"MONDO:0015286"},{"relation_name":"is_a","term_name":"disorder of GPI anchor biosynthesis","termid":"MONDO:0024321"}],"gene_count":11,"genes_by_uniquename":{"SJAG_00068":null,"SJAG_00295":null,"SJAG_00846":null,"SJAG_01416":null,"SJAG_02523":null,"SJAG_03115":null,"SJAG_03506":null,"SJAG_04165":null,"SJAG_04881":null,"SJAG_04975":null,"SJAG_06383":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0024322"},{"rel_name":"is_a","termid":"MONDO:0002525"},{"rel_name":"is_a","termid":"MONDO:0005066"}],"interesting_parent_ids":["MONDO:0002525","MONDO:0005066","MONDO:0024322"],"is_obsolete":false,"name":"inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["GARD:21342","MEDGEN:1842274","Orphanet:309515","UMLS:C5679954"],"synonyms":[{"name":"disorder of glycosphingolipid and GPI-anchored proteins glycosylation","type":"exact"},{"name":"disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation","type":"related"}],"termid":"MONDO:0017748","terms_by_termid":{"MONDO:0009398":null,"MONDO:0010221":null,"MONDO:0010466":null,"MONDO:0012465":null,"MONDO:0013563":null,"MONDO:0013882":null,"MONDO:0014165":null,"MONDO:0014318":null,"MONDO:0014457":null,"MONDO:0014780":null,"MONDO:0014832":null},"xrefs":{"Monarch":{"xref_id":"0017748"}}}


id: PBO:0089438
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"CLRC ubiquitin ligase complex subunit Raf2","termid":"PBO:0089438"}


id: SO:0002117
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","gene_count":0,"genotype_count":0,"name":"OBSOLETE SO:0002117 <new term> (obsolete SO:0002117)","termid":"SO:0002117"}


id: PBO:0028474
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-decreased_NADH_dehydrogenase_(ubiquinone)_activity","termid":"PBO:0028474"}


id: PBO:0000903
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"thiamine diphosphokinase Tnr3","termid":"PBO:0000903"}


id: PR:P40386
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- thi4 gene.","definition_xrefs":["PRO:DNx","UniProtKB:P40386"],"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":"thiamine biosynthetic bifunctional enzyme (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAC23H4.10c","synonyms":[{"name":"Spom972h-thi4","type":"exact"}],"termid":"PR:P40386"}


id: GO:0140547
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The acquisition of seed longevity is the ordered series of events during seed development, that prevent embryo deterioration and ROS damage and thus contribute to seed viability over time or in response to adverse environmental conditions. These events include protective (e.g. production of glassy cytoplasm ) and repair (e.g. oxidative stress responses) processes.","definition_xrefs":["PMID:26637538"],"direct_ancestors":[{"relation_name":"is_a","term_name":"multicellular organismal process","termid":"GO:0032501"},{"relation_name":"part_of","term_name":"seed development","termid":"GO:0048316"}],"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":"acquisition of seed longevity","termid":"GO:0140547"}


id: PBO:0004583
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"DNA replication endonuclease-helicase Dna2","termid":"PBO:0004583"}


id: PBO:0057652
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 1245a","termid":"PBO:0057652"}


id: MONDO:0024299
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"rickets","termid":"MONDO:0005520"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"vitamin D-dependent rickets","secondary_identifiers":["MEDGEN:526251","DOID:0080883","NANDO:1200781","NANDO:2200401","NANDO:2100144","SCTID:68295002","UMLS:C0221468"],"synonyms":[{"name":"VDDR","type":"exact"}],"termid":"MONDO:0024299","xrefs":{"Monarch":{"xref_id":"0024299"}}}


id: PBO:0090933
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Lsm1-7 complex subunit Lsm1","termid":"PBO:0090933"}


id: PBO:0040085
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"arylsulfatase F","termid":"PBO:0040085"}


id: PBO:0056304
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"mitogen-activated protein kinase kinase 1","termid":"PBO:0056304"}


id: GO:0044648
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. The modification of histone H3 by addition of two methyl groups to lysine at position 4 of the histone.","definition_xrefs":["GOC:jl","PMID:21875999"],"gene_count":0,"genotype_count":0,"name":"obsolete histone H3-K4 dimethylation (obsolete GO:0044648)","termid":"GO:0044648"}


id: PBO:0056788
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microfibril associated protein 4","termid":"PBO:0056788"}


id: MONDO:0002693
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Formation or presence of a blood clot (thrombus) in the lateral sinuses. This condition is often associated with ear infections (otitis media or mastoiditis) without antibiotic treatment. In developed nations, lateral sinus thrombosis can result from craniocerebral trauma; brain neoplasms; neurosurgical procedures; thrombophilia; and other conditions. Clinical features include headache; vertigo; and increased intracranial pressure.","definition_xrefs":["MESH:D020227"],"direct_ancestors":[{"relation_name":"is_a","term_name":"intracranial sinus thrombosis","termid":"MONDO:0002692"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"lateral sinus thrombosis","secondary_identifiers":["DOID:3574","SCTID:192761004","UMLS:C0270639","MEDGEN:124359"],"synonyms":[{"name":"thrombosis of lateral venous sinus","type":"exact"},{"name":"thrombosis transverse sinus","type":"exact"}],"termid":"MONDO:0002693","xrefs":{"Monarch":{"xref_id":"0002693"}}}


id: PR:O94704
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- iec3 gene.","definition_xrefs":["PRO:DNx","UniProtKB:O94704"],"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":"INO80 complex subunit 3 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPCC1259.04","synonyms":[{"name":"Spom972h-iec3","type":"exact"}],"termid":"PR:O94704"}


id: PBO:0072978
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"secretoglobin family 2B member 2","termid":"PBO:0072978"}


id: MONDO:0002085
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"movement disorder","termid":"MONDO:0005395"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"benign shuddering attacks","secondary_identifiers":["SCTID:446995005","ICD9:333.93","ICD10CM:G25.83","MEDGEN:580931","UMLS:C0375200","DOID:1713"],"termid":"MONDO:0002085","xrefs":{"Monarch":{"xref_id":"0002085"}}}


id: GO:0003316
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The specification and formation of the apicobasal polarity of an myocardial progenitor cell that contributes to the formation of the heart rudiment.","definition_xrefs":["GOC:mtg_heart"],"direct_ancestors":[{"relation_name":"is_a","term_name":"establishment of epithelial cell apical/basal polarity","termid":"GO:0045198"},{"relation_name":"part_of","term_name":"heart rudiment formation","termid":"GO:0003315"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0007163"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0007163","GO:0008150"],"is_obsolete":false,"name":"establishment of myocardial progenitor cell apical/basal polarity","synonyms":[{"name":"myocardial progenitor epithelial polarization","type":"exact"}],"termid":"GO:0003316"}


id: MONDO:0004800
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Chronic form of dacryoadenitis.","definition_xrefs":["MONDO:patterns/chronic"],"direct_ancestors":[{"relation_name":"is_a","term_name":"dacryoadenitis","termid":"MONDO:0004804"}],"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":"chronic dacryoadenitis","secondary_identifiers":["ICD9:375.02","DOID:949","MEDGEN:509857","UMLS:C0155224","SCTID:4760008"],"synonyms":[{"name":"dacryoadenitis, chronic","type":"exact"}],"termid":"MONDO:0004800","xrefs":{"Monarch":{"xref_id":"0004800"}}}


id: MONDO:0012993
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"dyschromatosis universalis hereditaria","termid":"MONDO:0000736"}],"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":"dyschromatosis universalis hereditaria 2","secondary_identifiers":["MESH:C567194","OMIM:612715","UMLS:C2675183","GARD:15581","MEDGEN:382542"],"synonyms":[{"name":"DUH2","type":"related"},{"name":"dyschromatosis universalis hereditaria 2","type":"exact"}],"termid":"MONDO:0012993","xrefs":{"Monarch":{"xref_id":"0012993"}}}


id: MONDO:0008555
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability.","definition_xrefs":["NCIT:C129035"],"direct_ancestors":[{"relation_name":"is_a","term_name":"inherited thrombocytopenia","termid":"MONDO:0100241"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005570"}],"interesting_parent_ids":["MONDO:0005570"],"is_obsolete":false,"name":"thrombocytopenia 2","secondary_identifiers":["MEDGEN:349976","UMLS:C1861185","OMIM:188000","GARD:5191","NANDO:2200663","MESH:C536519"],"synonyms":[{"name":"THC2","type":"related"},{"name":"thrombocytopenia 2","type":"exact"},{"name":"thrombocytopenia autosomal dominant 2","type":"related"},{"name":"thrombocytopenia type 2","type":"exact"},{"name":"thrombocytopenia, autosomal dominant, 2","type":"related"}],"termid":"MONDO:0008555","xrefs":{"Monarch":{"xref_id":"0008555"}}}


id: PR:P87015
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- SPAC186.03 gene.","definition_xrefs":["PRO:DNx","UniProtKB:P87015"],"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":"L-asparaginase 1 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAC186.03","synonyms":[{"name":"L-asparagine amidohydrolase 1 (Schizosaccharomyces pombe 972h-)","type":"exact"},{"name":"Spom972h-SPAC186.03","type":"exact"}],"termid":"PR:P87015"}


id: MONDO:0006619
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A virus-induced exanthem","definition_xrefs":["EFO:1000776"],"direct_ancestors":[{"relation_name":"is_a","term_name":"exanthem","termid":"MONDO:0006547"}],"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":"viral exanthem","secondary_identifiers":["ICD9:057.9","DOID:8672","ICD9:057.8","SCTID:49882001","UMLS:C0153062","MEDGEN:509133"],"termid":"MONDO:0006619","xrefs":{"Monarch":{"xref_id":"0006619"}}}


id: MONDO:0009368
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"Ochoa syndrome","termid":"MONDO:0000463"}],"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":"urofacial syndrome type 1","secondary_identifiers":["OMIM:236730"],"synonyms":[{"name":"Ochoa syndrome","type":"related"},{"name":"UFS1","type":"related"},{"name":"facial palsy, partial, with urinary abnormalities","type":"related"},{"name":"hydronephrosis with peculiar Facial expression","type":"related"},{"name":"inverted smile and occult neuropathic bladder","type":"related"},{"name":"urofacial syndrome","type":"related"},{"name":"urofacial syndrome 1","type":"related"},{"name":"urofacial syndrome type 1","type":"exact"}],"termid":"MONDO:0009368","xrefs":{"Monarch":{"xref_id":"0009368"}}}


id: PBO:0027202
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-transiently_misoriented_mitotic_spindle","termid":"PBO:0027202"}


id: MONDO:0002178
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A malignant neoplasm involving the placenta.","direct_ancestors":[{"relation_name":"is_a","term_name":"uterine cancer","termid":"MONDO:0002715"},{"relation_name":"is_a","term_name":"placenta neoplasm","termid":"MONDO:0021218"}],"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":"placenta cancer","secondary_identifiers":["ICD9:181","ICD9:239.5","MEDGEN:56310","SCTID:126920004","DOID:2021","NCIT:C3555","UMLS:C0153572"],"synonyms":[{"name":"cancer of placenta","type":"exact"},{"name":"deciduoma, malignant","type":"exact"},{"name":"malignant neoplasm of placenta","type":"exact"},{"name":"malignant neoplasm of the placenta","type":"exact"},{"name":"malignant placenta neoplasm","type":"exact"},{"name":"malignant placenta tumor","type":"exact"},{"name":"malignant placenta tumour","type":"exact"},{"name":"malignant placental neoplasm","type":"exact"},{"name":"malignant placental tumor","type":"exact"},{"name":"malignant placental tumour","type":"exact"},{"name":"malignant tumor of placenta","type":"exact"},{"name":"malignant tumor of the placenta","type":"exact"},{"name":"malignant tumour of placenta","type":"exact"},{"name":"malignant tumour of the placenta","type":"exact"},{"name":"placenta cancer","type":"exact"},{"name":"placental cancer","type":"exact"},{"name":"placental tumors","type":"broad"},{"name":"placental tumours","type":"broad"},{"name":"primary malignant neoplasm of placenta","type":"exact"}],"termid":"MONDO:0002178","xrefs":{"Monarch":{"xref_id":"0002178"}}}


id: MONDO:0005624
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Atrophic thyroiditis is an organ-specific autoimmune disease characterized by thyroid autoantibodies, functional hypothyroidism, and absence of goiter.","definition_xrefs":["doi:10.1007/978-1-60327-285-8_42"],"direct_ancestors":[{"relation_name":"is_a","term_name":"autoimmune thyroid disease","termid":"MONDO:0005623"}],"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":"atrophic thyroiditis","secondary_identifiers":["NANDO:2200336","MEDGEN:536775","EFO:0006813","UMLS:C0238183","SCTID:83664006"],"termid":"MONDO:0005624","xrefs":{"Monarch":{"xref_id":"0005624"}}}


id: PBO:0082939
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Cytoplasmic DEAD-box helicase and mRNA decapping activator; interacts with decapping and deadenylase complexes to coordinate mRNA decapping and decay; regulates general translational repression; translational activator of select mRNAs during filamentous growth, mating and autophagy; cooperates with Ngr1p to promote specific mRNA decay; ATP- and RNA-bound form promotes processing body assembly, while ATPase stimulation by Not1p promotes disassembly; forms cytoplasmic foci on replication stress","termid":"PBO:0082939"}


id: MONDO:0014007
data:
  {"annotated_genes":["SJAG_04380"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[87101],"is_not":false,"summary":null,"term":"MONDO:0014007"}]},"cv_name":"mondo","definition":"Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the ADAR gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"Aicardi-Goutieres syndrome","termid":"MONDO:0018866"},{"relation_name":"is_a","term_name":"ADAR-related type 1 interferonopathy","termid":"MONDO:0700261"}],"gene_count":1,"genes_by_uniquename":{"SJAG_04380":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0006025"},{"rel_name":"is_a","termid":"MONDO:0005559"},{"rel_name":"is_a","termid":"MONDO:0005046"}],"interesting_parent_ids":["MONDO:0006025","MONDO:0005559","MONDO:0005046"],"is_obsolete":false,"name":"Aicardi-Goutieres syndrome 6","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["UMLS:C3539013","GARD:15894","MEDGEN:761287","NANDO:2200898","OMIM:615010"],"synonyms":[{"name":"ADAR Aicardi-Goutieres syndrome","type":"exact"},{"name":"AGS6","type":"related"},{"name":"Adar Aicardi-Goutieres syndrome","type":"exact"},{"name":"Aicardi-Goutieres syndrome 6","type":"exact"},{"name":"Aicardi-Goutieres syndrome caused by mutation in ADAR","type":"exact"},{"name":"Aicardi-Goutieres syndrome caused by mutation in Adar","type":"exact"},{"name":"Aicardi-Goutieres syndrome type 6","type":"exact"}],"termid":"MONDO:0014007","terms_by_termid":{"MONDO:0014007":null},"xrefs":{"Monarch":{"xref_id":"0014007"}}}


id: PBO:0071057
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein L21 pseudogene 59","termid":"PBO:0071057"}


id: GO:0002733
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate, or extent of myeloid dendritic cell cytokine production.","definition_xrefs":["GOC:add"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of dendritic cell cytokine production","termid":"GO:0002730"},{"relation_name":"is_a","term_name":"regulation of myeloid leukocyte mediated immunity","termid":"GO:0002886"},{"relation_name":"regulates","term_name":"myeloid dendritic cell cytokine production","termid":"GO:0002372"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"regulates","termid":"GO:0010467"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0010467","GO:0008150"],"is_obsolete":false,"name":"regulation of myeloid dendritic cell cytokine production","termid":"GO:0002733"}


id: MONDO:0016248
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"An instance of ovarian cancer that is caused by an inherited modification of the individual's genome.","definition_xrefs":["MONDO:patterns/hereditary"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"obsolete inherited gynecological tumor (obsolete MONDO:0015981)","termid":"MONDO:0015981"},{"relation_name":"excluded_subClassOf","term_name":"malignant non-epithelial tumor of ovary","termid":"MONDO:0018365"},{"relation_name":"is_a","term_name":"hereditary disease","termid":"MONDO:0003847"},{"relation_name":"is_a","term_name":"ovarian cancer","termid":"MONDO:0008170"}],"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":"familial ovarian cancer","secondary_identifiers":["icd11.foundation:1484739866","UMLS:C5679802","MEDGEN:1803368","Orphanet:213517","GARD:20467"],"synonyms":[{"name":"familial ovarian cancer","type":"exact"},{"name":"familial ovarian malignant tumor","type":"exact"},{"name":"familial ovarian malignant tumour","type":"exact"},{"name":"hereditary ovarian cancer","type":"exact"}],"termid":"MONDO:0016248","xrefs":{"Monarch":{"xref_id":"0016248"}}}


id: PBO:0042052
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"coiled-coil domain containing 112","termid":"PBO:0042052"}


id: GO:0051346
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops or reduces the rate of hydrolase activity, the catalysis of the hydrolysis of various bonds.","definition_xrefs":["GOC:ai"],"direct_ancestors":[{"relation_name":"is_a","term_name":"negative regulation of catalytic activity","termid":"GO:0043086"},{"relation_name":"is_a","term_name":"regulation of hydrolase activity","termid":"GO:0051336"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"negative regulation of hydrolase activity","synonyms":[{"name":"down regulation of hydrolase activity","type":"exact"},{"name":"down-regulation of hydrolase activity","type":"exact"},{"name":"downregulation of hydrolase activity","type":"exact"},{"name":"hydrolase inhibitor","type":"exact"},{"name":"inhibition of hydrolase activity","type":"narrow"}],"termid":"GO:0051346"}


id: GO:1904241
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that activates or increases the frequency, rate or extent of VCP-NPL4-UFD1 AAA ATPase complex assembly.","definition_xrefs":["GO_REF:0000058","GOC:PARL","GOC:TermGenie","GOC:bf"],"direct_ancestors":[{"relation_name":"is_a","term_name":"positive regulation of protein-containing complex assembly","termid":"GO:0031334"},{"relation_name":"is_a","term_name":"regulation of VCP-NPL4-UFD1 AAA ATPase complex assembly","termid":"GO:1904239"},{"relation_name":"positively_regulates","term_name":"VCP-NPL4-UFD1 AAA ATPase complex assembly","termid":"GO:1904210"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"regulates","termid":"GO:0044085"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"positively_regulates","termid":"GO:0044085"},{"rel_name":"regulates","termid":"GO:0065003"},{"rel_name":"positively_regulates","termid":"GO:0065003"}],"interesting_parent_ids":["GO:0008150","GO:0065003","GO:0044085"],"is_obsolete":false,"name":"positive regulation of VCP-NPL4-UFD1 AAA ATPase complex assembly","synonyms":[{"name":"activation of Cdc48p-Npl4p-Ufd1p AAA ATPase complex assembly","type":"narrow"},{"name":"activation of Cdc48p-Npl4p-Ufd1p AAA ATPase complex formation","type":"narrow"},{"name":"activation of VCP-NPL4-UFD1 AAA ATPase complex assembly","type":"narrow"},{"name":"activation of VCP-NPL4-UFD1 AAA ATPase complex formation","type":"narrow"},{"name":"activation of p97-Ufd1-Npl4 complex assembly","type":"narrow"},{"name":"activation of p97-Ufd1-Npl4 complex formation","type":"narrow"},{"name":"positive regulation of Cdc48p-Npl4p-Ufd1p AAA ATPase complex assembly","type":"narrow"},{"name":"positive regulation of Cdc48p-Npl4p-Ufd1p AAA ATPase complex formation","type":"narrow"},{"name":"positive regulation of VCP-NPL4-UFD1 AAA ATPase complex formation","type":"exact"},{"name":"positive regulation of p97-Ufd1-Npl4 complex assembly","type":"exact"},{"name":"positive regulation of p97-Ufd1-Npl4 complex formation","type":"exact"},{"name":"up regulation of Cdc48p-Npl4p-Ufd1p AAA ATPase complex assembly","type":"narrow"},{"name":"up regulation of Cdc48p-Npl4p-Ufd1p AAA ATPase complex formation","type":"narrow"},{"name":"up regulation of VCP-NPL4-UFD1 AAA ATPase complex assembly","type":"exact"},{"name":"up regulation of VCP-NPL4-UFD1 AAA ATPase complex formation","type":"exact"},{"name":"up regulation of p97-Ufd1-Npl4 complex assembly","type":"exact"},{"name":"up regulation of p97-Ufd1-Npl4 complex formation","type":"exact"},{"name":"up-regulation of Cdc48p-Npl4p-Ufd1p AAA ATPase complex assembly","type":"narrow"},{"name":"up-regulation of Cdc48p-Npl4p-Ufd1p AAA ATPase complex formation","type":"narrow"},{"name":"up-regulation of VCP-NPL4-UFD1 AAA ATPase complex assembly","type":"exact"},{"name":"up-regulation of VCP-NPL4-UFD1 AAA ATPase complex formation","type":"exact"},{"name":"up-regulation of p97-Ufd1-Npl4 complex assembly","type":"exact"},{"name":"up-regulation of p97-Ufd1-Npl4 complex formation","type":"exact"},{"name":"upregulation of Cdc48p-Npl4p-Ufd1p AAA ATPase complex assembly","type":"narrow"},{"name":"upregulation of Cdc48p-Npl4p-Ufd1p AAA ATPase complex formation","type":"narrow"},{"name":"upregulation of VCP-NPL4-UFD1 AAA ATPase complex assembly","type":"exact"},{"name":"upregulation of VCP-NPL4-UFD1 AAA ATPase complex formation","type":"exact"},{"name":"upregulation of p97-Ufd1-Npl4 complex assembly","type":"exact"},{"name":"upregulation of p97-Ufd1-Npl4 complex formation","type":"exact"}],"termid":"GO:1904241"}


id: PBO:0085282
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Peroxisomal membrane signal receptor for peroxisomal matrix proteins; oleate-inducible condition-specific import receptor for a subset of PTS1-containing matrix proteins; localizes to both the cytosol and the peroxisomal membrane; similar to human PEX5Rp, a peroxin protein 5 related protein; paralog of Pex5p","termid":"PBO:0085282"}


