# terms

id: PBO:0045380
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"DPP3 pseudogene 1","termid":"PBO:0045380"}


id: PBO:0003567
data:
  {"annotation_feature_type":"gene","cv_name":"warning","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"unsupported by transcription data","termid":"PBO:0003567"}


id: MOD:01095
data:
  {"annotation_feature_type":"gene","cv_name":"PSI-MOD","definition":"Modification from DeltaMass. OBSOLETE because not an amino acid modification.","definition_xrefs":["DeltaMass:240"],"gene_count":0,"genotype_count":0,"name":"OBSOLETE MOD:01095 Matrix alpha cyano MH+ (obsolete MOD:01095)","termid":"MOD:01095"}


id: GO:1900422
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. A positive regulation of transcription from RNA polymerase II promoter that results in positive regulation of cellular alcohol catabolic process.","definition_xrefs":["PMID:8221926","PMID:3305157","GOC:curators","GOC:TermGenie"],"gene_count":0,"genotype_count":0,"name":"obsolete positive regulation of cellular alcohol catabolic process by positive regulation of transcription from RNA polymerase II promoter (obsolete GO:1900422)","synonyms":[{"name":"activation of cellular alcohol catabolic process by positive regulation of transcription from RNA polymerase II promoter","type":"narrow"},{"name":"up regulation of cellular alcohol catabolic process by positive regulation of transcription from RNA polymerase II promoter","type":"exact"},{"name":"up-regulation of cellular alcohol catabolic process by positive regulation of transcription from RNA polymerase II promoter","type":"exact"},{"name":"upregulation of cellular alcohol catabolic process by positive regulation of transcription from RNA polymerase II promoter","type":"exact"}],"termid":"GO:1900422"}


id: GO:0009675
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: sulfate(out) + H+(out) = sulfate(in) + H+(in). In high-affinity transport the transporter is able to bind the solute even if it is only present at very low concentrations.","definition_xrefs":["GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"sulfate:proton symporter activity","termid":"GO:0008512"}],"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:0022857","GO:0005215","GO:0003674"],"is_obsolete":false,"name":"high-affinity sulfate:proton symporter activity","synonyms":[{"name":"high affinity sulfate:hydrogen symporter activity","type":"exact"},{"name":"high affinity sulfate:proton symporter activity","type":"exact"},{"name":"high affinity sulphate:hydrogen symporter activity","type":"exact"}],"termid":"GO:0009675"}


id: PBO:0053851
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 1120","termid":"PBO:0053851"}


id: MONDO:0030818
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"spermatogenic failure","termid":"MONDO:0004983"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005047"}],"interesting_parent_ids":["MONDO:0005047"],"is_obsolete":false,"name":"spermatogenic failure 73","secondary_identifiers":["OMIM:619878","DOID:0070572","UMLS:C5676988","MEDGEN:1801127"],"synonyms":[{"name":"SPGF73","type":"exact"},{"name":"spermatogenic failure 73","type":"exact"}],"termid":"MONDO:0030818","xrefs":{"Monarch":{"xref_id":"0030818"}}}


id: MONDO:0003822
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A papillary neoplasm of the urinary bladder in which the transitional cells form papillae. The papillary structures exhibit minimal architectural distortion and minimal atypia. Mitoses are infrequent. Patients are at an increased risk of developing new papillary lesions. Occasionally, the new lesions are urothelial carcinomas.","definition_xrefs":["NCIT:P378"],"direct_ancestors":[{"relation_name":"is_a","term_name":"bladder papillary urothelial neoplasm","termid":"MONDO:0003442"},{"relation_name":"is_a","term_name":"urinary tract non-invasive transitional cell neoplasm","termid":"MONDO:0003755"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"non-invasive bladder papillary urothelial neoplasm","secondary_identifiers":["DOID:6239","NCIT:C39831","MEDGEN:309424","UMLS:C1518358"],"synonyms":[{"name":"bladder PUNLMP","type":"exact"},{"name":"bladder papillary neoplasm of low malignant potential","type":"exact"},{"name":"non-invasive bladder papillary urothelial neoplasm","type":"exact"},{"name":"papillary urothelial neoplasm of low malignant potential","type":"exact"}],"termid":"MONDO:0003822","xrefs":{"Monarch":{"xref_id":"0003822"}}}


id: FYPO:0002657
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A regulation phenotype observed in the vegetative growth phase of the life cycle in which the switch from the monopolar to bipolar mode of cell growth (new end take-off; NETO) occurs to the same extent as in wild-type cells.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"normal NETO","termid":"FYPO:0001396"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0001312"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0000257"}],"interesting_parent_ids":["FYPO:0000257","FYPO:0000002","FYPO:0001312","FYPO:0001320"],"is_obsolete":false,"name":"normal occurrence of NETO","synonyms":[{"name":"normal NETO frequency","type":"exact"},{"name":"normal NETO occurrence","type":"exact"},{"name":"normal frequency of NETO","type":"exact"},{"name":"normal occurrence of NETO during mitotic cell cycle","type":"related"},{"name":"normal occurrence of NETO during vegetative growth","type":"exact"},{"name":"normal occurrence of activation of bipolar cell growth","type":"related"},{"name":"normal occurrence of cell growth mode switching, monopolar to bipolar","type":"exact"},{"name":"normal occurrence of new end take-off","type":"exact"},{"name":"normal occurrence of switch from monopolar to bipolar cell growth","type":"exact"}],"termid":"FYPO:0002657"}


id: PBO:0029787
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-inviable_after_spore_germination,_multiple_cell_divisions,_septated_cell_with_abnormal_morphology","termid":"PBO:0029787"}


id: GO:0034930
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"OBSOLETE. Catalysis of the reaction: 1-hydroxypyrene + XSO3- = 1-pyrenylsulfate + HX.","definition_xrefs":["GOC:curators"],"gene_count":0,"genotype_count":0,"name":"obsolete 1-hydroxypyrene sulfotransferase activity (obsolete GO:0034930)","termid":"GO:0034930"}


id: PBO:0079895
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ubiquinol-cytochrome c reductase complex assembly factor 4","termid":"PBO:0079895"}


id: SO:0000676
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"The canonical 3' splice site has the sequence \\\"AG\\\".","definition_xrefs":["SO:ke"],"direct_ancestors":[{"relation_name":"is_a","term_name":"three_prime_cis_splice_site","termid":"SO:0000164"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"canonical_three_prime_splice_site","synonyms":[{"name":"canonical 3' splice site","type":"exact"},{"name":"canonical three prime splice site","type":"exact"}],"termid":"SO:0000676"}


id: GO:0010160
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The regionalization process that specifies animal organ primordium boundaries resulting in a restriction of organogenesis to a limited spatial domain and keeping the organ separate from surrounding tissues.","definition_xrefs":["GOC:dph","GOC:isa_complete","PMID:9611175"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regionalization","termid":"GO:0003002"},{"relation_name":"is_a","term_name":"formation of anatomical boundary","termid":"GO:0048859"},{"relation_name":"part_of","term_name":"animal organ formation","termid":"GO:0048645"}],"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":"formation of animal organ boundary","secondary_identifiers":["GO:0048862"],"synonyms":[{"name":"organ boundary specification","type":"exact"}],"termid":"GO:0010160"}


id: MONDO:1010418
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Narcolepsy that occurs in dog.","definition_xrefs":["MONDO:patterns/nonhuman_disease"],"direct_ancestors":[{"relation_name":"is_a","term_name":"narcolepsy, non-human animal","termid":"MONDO:1010003"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"narcolepsy, dog","secondary_identifiers":["OMIA:000703-9615"],"termid":"MONDO:1010418","xrefs":{"Monarch":{"xref_id":"1010418"}}}


id: GO:0140943
data:
  {"annotated_genes":["SJAG_01146"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[116813],"is_not":false,"summary":null,"term":"GO:0140943"}]},"cv_name":"molecular_function","definition":"Catalysis of the reaction: L-lysyl(20)-[histone H4] + 3 S-adenosyl-L-methionine = 3 H+ + N(6),N(6),N(6)-trimethyl-L-lysyl(20)-[histone H4] + 3 S-adenosyl-L-homocysteine. This reaction is the addition of three methyl groups to the lysine residue at position 20 of the histone H4 protein, producing histone H4K20me3.","definition_xrefs":["RHEA:64456"],"direct_ancestors":[{"relation_name":"is_a","term_name":"histone H4K20 methyltransferase activity","termid":"GO:0042799"}],"gene_count":1,"genes_by_uniquename":{"SJAG_01146":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008276"},{"rel_name":"is_a","termid":"GO:0140096"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0016741"},{"rel_name":"is_a","termid":"GO:0016740"}],"interesting_parent_ids":["GO:0008276","GO:0003674","GO:0016741","GO:0140096","GO:0016740","GO:0003824"],"is_obsolete":false,"name":"histone H4K20 trimethyltransferase activity","references_by_uniquename":{"GO_REF:0000107":null},"secondary_identifiers":["EC:2.1.1.372"],"synonyms":[{"name":"histone H4K20 trimethylase activity","type":"exact"},{"name":"histone H4K20 trimethylation","type":"exact"},{"name":"histone lysine N-trimethyltransferase activity (H4-K20 specific)","type":"exact"}],"termid":"GO:0140943","terms_by_termid":{"GO:0140943":null}}


id: MONDO:0008882
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae.","definition_xrefs":["Orphanet:2292"],"direct_ancestors":[{"relation_name":"is_a","term_name":"congenital deformities of limbs","termid":"MONDO:0017427"},{"relation_name":"is_a","term_name":"bent bone dysplasia","termid":"MONDO:0019698"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"congenital bowing of long bones","secondary_identifiers":["MedDRA:10054064","SCTID:716098006","UMLS:C1859394","MEDGEN:395251","GARD:953","OMIM:211355","icd11.foundation:1261565213"],"synonyms":[{"name":"bowing of long bones congenital","type":"related"},{"name":"bowing of long bones, asymmetric and symmetric","type":"related"}],"termid":"MONDO:0008882","xrefs":{"Monarch":{"xref_id":"0008882"}}}


id: PBO:0088165
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"WD40 domain-containing protein involved in endosomal recycling; forms a complex with Rrt2p that functions in the retromer-mediated pathway for recycling internalized cell-surface proteins; interacts with Trm7p for 2'-O-methylation of N34 of substrate tRNAs; has a role in regulation of Ty1 transposition; human ortholog is WDR6","termid":"PBO:0088165"}


id: MONDO:0019865
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated.","definition_xrefs":["Orphanet:96059"],"direct_ancestors":[{"relation_name":"is_a","term_name":"chromosome 4 disorder","termid":"MONDO:0700011"},{"relation_name":"is_a","term_name":"trisomy","termid":"MONDO:0700065"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"mosaic trisomy 4","secondary_identifiers":["GARD:19300","MEDGEN:1637768","UMLS:C4272018","SCTID:764628000"],"synonyms":[{"name":"Mosaic trisomy chromosome 4","type":"exact"},{"name":"Mosaic trisomy type 4","type":"exact"},{"name":"trisomy 4 mosaicism","type":"exact"}],"termid":"MONDO:0019865","xrefs":{"Monarch":{"xref_id":"0019865"}}}


id: MONDO:0017659
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"hyperekplexia","termid":"MONDO:0017658"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"sporadic hyperekplexia","secondary_identifiers":["MEDGEN:1683565","UMLS:C5191042","Orphanet:306776","GARD:21282"],"termid":"MONDO:0017659","xrefs":{"Monarch":{"xref_id":"0017659"}}}


id: GO:1905376
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. Any process that stops, prevents or reduces the frequency, rate or extent of cytochrome-c oxidase activity.","definition_xrefs":["GOC:TermGenie","PMID:26722473","GO_REF:0000059"],"gene_count":0,"genotype_count":0,"name":"obsolete negative regulation of cytochrome-c oxidase activity (obsolete GO:1905376)","synonyms":[{"name":"down regulation of NADH cytochrome c oxidase","type":"exact"},{"name":"down regulation of aa3-type cytochrome c oxidase","type":"narrow"},{"name":"down regulation of ba3-type cytochrome c oxidase","type":"narrow"},{"name":"down regulation of caa3-type cytochrome c oxidase","type":"narrow"},{"name":"down regulation of cbb3-type cytochrome c oxidase","type":"narrow"},{"name":"down regulation of complex IV (mitochondrial electron transport) activity","type":"related"},{"name":"down regulation of cytochrome a3 activity","type":"narrow"},{"name":"down regulation of cytochrome aa3 activity","type":"narrow"},{"name":"down regulation of cytochrome c oxidase activity","type":"exact"},{"name":"down regulation of cytochrome oxidase activity","type":"related"},{"name":"down regulation of cytochrome-c oxidase activity","type":"exact"},{"name":"down regulation of ferrocytochrome c oxidase","type":"narrow"},{"name":"down regulation of ferrocytochrome-c:oxygen oxidoreductase","type":"narrow"},{"name":"down regulation of indophenol oxidase","type":"narrow"},{"name":"down regulation of indophenolase","type":"narrow"},{"name":"down regulation of warburg's respiratory enzyme activity","type":"related"},{"name":"down-regulation of NADH cytochrome c oxidase","type":"exact"},{"name":"down-regulation of aa3-type cytochrome c oxidase","type":"narrow"},{"name":"down-regulation of ba3-type cytochrome c oxidase","type":"narrow"},{"name":"down-regulation of caa3-type cytochrome c oxidase","type":"narrow"},{"name":"down-regulation of cbb3-type cytochrome c oxidase","type":"narrow"},{"name":"down-regulation of complex IV (mitochondrial electron transport) activity","type":"related"},{"name":"down-regulation of cytochrome a3 activity","type":"narrow"},{"name":"down-regulation of cytochrome aa3 activity","type":"narrow"},{"name":"down-regulation of cytochrome c oxidase activity","type":"exact"},{"name":"down-regulation of cytochrome oxidase activity","type":"related"},{"name":"down-regulation of cytochrome-c oxidase activity","type":"exact"},{"name":"down-regulation of ferrocytochrome c oxidase","type":"narrow"},{"name":"down-regulation of ferrocytochrome-c:oxygen oxidoreductase","type":"narrow"},{"name":"down-regulation of indophenol oxidase","type":"narrow"},{"name":"down-regulation of indophenolase","type":"narrow"},{"name":"down-regulation of warburg's respiratory enzyme activity","type":"related"},{"name":"downregulation of NADH cytochrome c oxidase","type":"exact"},{"name":"downregulation of aa3-type cytochrome c oxidase","type":"narrow"},{"name":"downregulation of ba3-type cytochrome c oxidase","type":"narrow"},{"name":"downregulation of caa3-type cytochrome c oxidase","type":"narrow"},{"name":"downregulation of cbb3-type cytochrome c oxidase","type":"narrow"},{"name":"downregulation of complex IV (mitochondrial electron transport) activity","type":"related"},{"name":"downregulation of cytochrome a3 activity","type":"narrow"},{"name":"downregulation of cytochrome aa3 activity","type":"narrow"},{"name":"downregulation of cytochrome c oxidase activity","type":"exact"},{"name":"downregulation of cytochrome oxidase activity","type":"related"},{"name":"downregulation of cytochrome-c oxidase activity","type":"exact"},{"name":"downregulation of ferrocytochrome c oxidase","type":"narrow"},{"name":"downregulation of ferrocytochrome-c:oxygen oxidoreductase","type":"narrow"},{"name":"downregulation of indophenol oxidase","type":"narrow"},{"name":"downregulation of indophenolase","type":"narrow"},{"name":"downregulation of warburg's respiratory enzyme activity","type":"related"},{"name":"inhibition of NADH cytochrome c oxidase","type":"narrow"},{"name":"inhibition of aa3-type cytochrome c oxidase","type":"narrow"},{"name":"inhibition of ba3-type cytochrome c oxidase","type":"narrow"},{"name":"inhibition of caa3-type cytochrome c oxidase","type":"narrow"},{"name":"inhibition of cbb3-type cytochrome c oxidase","type":"narrow"},{"name":"inhibition of complex IV (mitochondrial electron transport) activity","type":"related"},{"name":"inhibition of cytochrome a3 activity","type":"narrow"},{"name":"inhibition of cytochrome aa3 activity","type":"narrow"},{"name":"inhibition of cytochrome c oxidase activity","type":"narrow"},{"name":"inhibition of cytochrome oxidase activity","type":"related"},{"name":"inhibition of cytochrome-c oxidase activity","type":"narrow"},{"name":"inhibition of ferrocytochrome c oxidase","type":"narrow"},{"name":"inhibition of ferrocytochrome-c:oxygen oxidoreductase","type":"narrow"},{"name":"inhibition of indophenol oxidase","type":"narrow"},{"name":"inhibition of indophenolase","type":"narrow"},{"name":"inhibition of warburg's respiratory enzyme activity","type":"related"},{"name":"negative regulation of NADH cytochrome c oxidase","type":"exact"},{"name":"negative regulation of aa3-type cytochrome c oxidase","type":"narrow"},{"name":"negative regulation of ba3-type cytochrome c oxidase","type":"narrow"},{"name":"negative regulation of caa3-type cytochrome c oxidase","type":"narrow"},{"name":"negative regulation of cbb3-type cytochrome c oxidase","type":"narrow"},{"name":"negative regulation of complex IV (mitochondrial electron transport) activity","type":"related"},{"name":"negative regulation of cytochrome a3 activity","type":"narrow"},{"name":"negative regulation of cytochrome aa3 activity","type":"narrow"},{"name":"negative regulation of cytochrome c oxidase activity","type":"exact"},{"name":"negative regulation of cytochrome oxidase activity","type":"related"},{"name":"negative regulation of ferrocytochrome c oxidase","type":"narrow"},{"name":"negative regulation of ferrocytochrome-c:oxygen oxidoreductase","type":"narrow"},{"name":"negative regulation of indophenol oxidase","type":"narrow"},{"name":"negative regulation of indophenolase","type":"narrow"},{"name":"negative regulation of warburg's respiratory enzyme activity","type":"related"}],"termid":"GO:1905376"}


id: GO:0022875
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the PEP-dependent, phosphoryl transfer-driven transport of substances across a membrane. The transport happens by catalysis of the reaction: protein N-phosphohistidine + galactitol(out) = protein histidine + galactitol phosphate(in). This differs from primary and secondary active transport in that the solute is modified during transport.","definition_xrefs":["ISBN:0815340729","GOC:mtg_transport"],"direct_ancestors":[{"relation_name":"is_a","term_name":"protein-N(PI)-phosphohistidine-sugar phosphotransferase activity","termid":"GO:0008982"},{"relation_name":"is_a","term_name":"galactitol transmembrane transporter activity","termid":"GO:0015577"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0016740"},{"rel_name":"is_a","termid":"GO:0022857"},{"rel_name":"is_a","termid":"GO:0005215"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0005215","GO:0022857","GO:0003824","GO:0016740","GO:0003674"],"is_obsolete":false,"name":"protein-N(PI)-phosphohistidine-galactitol phosphotransferase system transmembrane transporter activity","synonyms":[{"name":"galactitol PTS transporter activity","type":"exact"}],"termid":"GO:0022875"}


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: GO:0060153
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. A process in which a virus interferes with the normal progression through the host cell cycle. The host is defined as the larger of the organisms involved in a symbiotic interaction.","definition_xrefs":["GOC:dph"],"gene_count":0,"genotype_count":0,"name":"obsolete perturbation by virus of host cell cycle progression (obsolete GO:0060153)","synonyms":[{"name":"modulation by virus of host cell cycle","type":"related"},{"name":"modulation of host cell cycle by virus","type":"exact"},{"name":"regulation by virus of host cell cycle","type":"exact"},{"name":"regulation of host cell cycle by virus","type":"exact"},{"name":"viral process regulating host cell cycle","type":"exact"}],"termid":"GO:0060153"}


id: PBO:0002429
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"hydantoin racemase family (predicted)","termid":"PBO:0002429"}


id: MONDO:0009851
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":"peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain","secondary_identifiers":["OMIM:260970","UMLS:C1850022","MESH:C564894","MEDGEN:342395"],"synonyms":[{"name":"peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain","type":"exact"}],"termid":"MONDO:0009851","xrefs":{"Monarch":{"xref_id":"0009851"}}}


id: PBO:0046742
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"exocyst complex component 1 like","termid":"PBO:0046742"}


id: PBO:0064583
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"POTE ankyrin domain family member D","termid":"PBO:0064583"}


id: PBO:0054527
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 1927","termid":"PBO:0054527"}


id: PBO:0078369
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"tRNA-Glu (anticodon TTC) 13-1","termid":"PBO:0078369"}


id: GO:0035247
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The addition of a methyl group onto a terminal nitrogen (omega nitrogen) atom of an arginine residue in a protein.","definition_xrefs":["RESID:AA0067","RESID:AA0068","RESID:AA0069","PMID:14705965"],"direct_ancestors":[{"relation_name":"is_a","term_name":"peptidyl-arginine N-methylation","termid":"GO:0035246"}],"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":"peptidyl-arginine omega-N-methylation","termid":"GO:0035247"}


id: MONDO:0010611
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.","definition_xrefs":["Orphanet:2182"],"direct_ancestors":[{"relation_name":"is_a","term_name":"X-linked disease","termid":"MONDO:0000425"},{"relation_name":"is_a","term_name":"congenital hydrocephalus","termid":"MONDO:0016349"},{"relation_name":"is_a","term_name":"L1 syndrome","termid":"MONDO:0017140"}],"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":"X-linked hydrocephalus with stenosis of the aqueduct of Sylvius","secondary_identifiers":["icd11.foundation:1284135636","MEDGEN:75552","GARD:434","OMIM:307000","SCTID:71779008","MESH:C536078","UMLS:C0265216"],"synonyms":[{"name":"Bickers-Adams syndrome","type":"exact"},{"name":"HSAS","type":"exact"},{"name":"HSAS1","type":"related"},{"name":"HYCX","type":"related"},{"name":"X-linked HSAS","type":"exact"},{"name":"X-linked acqueductal stenosis","type":"exact"},{"name":"X-linked hydrocephalus","type":"exact"},{"name":"X-linked hydrocephalus with stenosis of aqueduct of Sylvius","type":"exact"},{"name":"X-linked hydrocephalus with stenosis of the aqueduct of Sylvius","type":"exact"},{"name":"XLAS","type":"related"},{"name":"aqueductal stenosis, X-linked","type":"related"},{"name":"hydrocephalus due to aqueductal stenosis, X-linked recessive","type":"exact"},{"name":"hydrocephalus due to congenital stenosis of aqueduct of Sylvius","type":"related"},{"name":"hydrocephalus with congenital idiopathic intestinal pseudoobstruction, X-linked recessive","type":"exact"},{"name":"hydrocephalus with hirschsprung disease, X-linked recessive","type":"exact"},{"name":"hydrocephalus with stenosis of the aqueduct of Sylvius","type":"exact"},{"name":"hydrocephalus, X-linked","type":"related"},{"name":"hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction","type":"related"}],"termid":"MONDO:0010611","xrefs":{"Monarch":{"xref_id":"0010611"}}}


id: PBO:0116651
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ARF like GTPase 2 binding protein pseudogene 6","termid":"PBO:0116651"}


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:0060250
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"MYCL antisense RNA 1","termid":"PBO:0060250"}


id: PBO:0028125
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-decreased_agglutination","termid":"PBO:0028125"}


id: MONDO:0859569
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"Braddock-Carey syndrome","termid":"MONDO:0031646"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Braddock-Carey syndrome 1","secondary_identifiers":["MEDGEN:1823961","OMIM:619980","UMLS:C5774188"],"termid":"MONDO:0859569","xrefs":{"Monarch":{"xref_id":"0859569"}}}


id: GO:0003017
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The flow of lymph through the body of an animal.","definition_xrefs":["GOC:mtg_cardio"],"direct_ancestors":[{"relation_name":"is_a","term_name":"circulatory system process","termid":"GO:0003013"}],"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":"lymph circulation","termid":"GO:0003017"}


id: PBO:0030306
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-abnormal_regulation_of_cell_growth","termid":"PBO:0030306"}


id: PBO:0058854
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 8083","termid":"PBO:0058854"}


id: PR:O14061
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- ast1 gene.","definition_xrefs":["PRO:DNx","UniProtKB:O14061"],"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":"asteroid homolog 1 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPCC962.05","synonyms":[{"name":"Spom972h-ast1","type":"exact"}],"termid":"PR:O14061"}


id: PR:O43071
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A pre-mRNA-processing factor 17 that is encoded in the genome of Schizosaccharomyces pombe 972h-.","definition_xrefs":["OMA:SCHPO03361","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 17 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPBC6B1.10","secondary_identifiers":["UniProtKB:O43071"],"synonyms":[{"name":"Spom972h-CDC40","type":"exact"}],"termid":"PR:O43071"}


id: PR:O59814
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- SPCC794.04c gene.","definition_xrefs":["PRO:DNx","UniProtKB:O59814"],"direct_ancestors":[{"relation_name":"is_a","term_name":"Schizosaccharomyces pombe 972h- protein","termid":"PR:000029043"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"uncharacterized transporter C794.04c (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPCC794.04c","synonyms":[{"name":"Spom972h-SPCC794.04c","type":"exact"}],"termid":"PR:O59814"}


id: PBO:0053612
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 648","termid":"PBO:0053612"}


id: GO:1903166
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a polycyclic arene stimulus.","definition_xrefs":["GOC:TermGenie","PMID:10998501","GOC:mr","GO_REF:0000071"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cellular response to chemical stimulus","termid":"GO:0070887"},{"relation_name":"is_a","term_name":"response to polycyclic arene","termid":"GO:1903165"}],"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 polycyclic arene","termid":"GO:1903166"}


id: PBO:0062891
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ovo like zinc finger 3","termid":"PBO:0062891"}


id: GO:0080167
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a karrikin stimulus. Karrikins are signaling molecules in smoke from burning vegetation that trigger seed germination for many angiosperms (flowering plants).","definition_xrefs":["PMID:20351290"],"direct_ancestors":[{"relation_name":"is_a","term_name":"response to abiotic stimulus","termid":"GO:0009628"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"response to karrikin","termid":"GO:0080167"}


id: GO:0042996
data:
  {"annotated_genes":["SJAG_03970"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[87878],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0042997"}]},"cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of the transport of proteins from the Golgi to the plasma membrane.","definition_xrefs":["GOC:jl"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of protein transport","termid":"GO:0051223"},{"relation_name":"is_a","term_name":"regulation of vesicle-mediated transport","termid":"GO:0060627"},{"relation_name":"is_a","term_name":"regulation of protein localization to plasma membrane","termid":"GO:1903076"},{"relation_name":"regulates","term_name":"Golgi to plasma membrane protein transport","termid":"GO:0043001"}],"gene_count":1,"genes_by_uniquename":{"SJAG_03970":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"regulates","termid":"GO:0006810"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"regulates","termid":"GO:0016192"}],"interesting_parent_ids":["GO:0008150","GO:0006810","GO:0016192"],"is_obsolete":false,"name":"regulation of Golgi to plasma membrane protein transport","references_by_uniquename":{"GO_REF:0000107":null},"termid":"GO:0042996","terms_by_termid":{"GO:0042997":null}}


id: PBO:0078813
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"tRNA nucleotidyl transferase 1","termid":"PBO:0078813"}


id: PBO:0044272
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"C-X-C motif chemokine ligand 12","termid":"PBO:0044272"}


id: PBO:0091172
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Lid2 complex Dpy-30 domain subunit Sdc1","termid":"PBO:0091172"}


id: PBO:0030569
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-normal_cellular_glutamine_level","termid":"PBO:0030569"}


id: FYPO:0001200
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A stress response phenotype observed in the vegetative growth phase of the life cycle in which the response to calcium starvation is abnormal.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal cellular response to starvation during vegetative growth","termid":"FYPO:0001339"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0000298"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0005447"}],"interesting_parent_ids":["FYPO:0001985","FYPO:0005447","FYPO:0001320","FYPO:0000298","FYPO:0000002"],"is_obsolete":false,"name":"abnormal cellular response to calcium starvation","synonyms":[{"name":"abnormal cellular response to calcium depletion","type":"exact"},{"name":"abnormal cellular response to calcium deprivation","type":"exact"},{"name":"abnormal cellular response to calcium ion starvation","type":"exact"},{"name":"abnormal cellular response to calcium starvation during mitotic cell cycle","type":"related"},{"name":"abnormal cellular response to calcium starvation during vegetative growth","type":"exact"}],"termid":"FYPO:0001200"}


id: GO:0010645
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of cell communication via chemical coupling. Cell communication by chemical coupling is the process that mediates signaling interactions between one cell and another cell by the transfer of small, water-soluble molecules or metabolites between their adjacent cytoplasms via intercellular protein channels.","definition_xrefs":["GOC:kmv","GOC:tb","GOC:dph"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of cell communication","termid":"GO:0010646"},{"relation_name":"regulates","term_name":"cell communication by chemical coupling","termid":"GO:0010643"}],"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 cell communication by chemical coupling","termid":"GO:0010645"}


id: GO:0015970
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the formation of guanine tetraphosphate (5'-ppGpp-3'), a derivative of guanine riboside with four phosphates.","definition_xrefs":["GOC:ai"],"direct_ancestors":[{"relation_name":"is_a","term_name":"purine ribonucleotide biosynthetic process","termid":"GO:0009152"},{"relation_name":"is_a","term_name":"guanosine tetraphosphate metabolic process","termid":"GO:0015969"},{"relation_name":"is_a","term_name":"purine ribonucleoside bisphosphate biosynthetic process","termid":"GO:0034036"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0055086"},{"rel_name":"is_a","termid":"GO:0044281"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0055086","GO:0008150","GO:0044281"],"is_obsolete":false,"name":"guanosine tetraphosphate biosynthetic process","synonyms":[{"name":"guanosine tetraphosphate (5'-ppGpp-3') biosynthesis","type":"exact"},{"name":"guanosine tetraphosphate (5'-ppGpp-3') biosynthetic process","type":"exact"},{"name":"guanosine tetraphosphate anabolism","type":"exact"},{"name":"guanosine tetraphosphate biosynthesis","type":"exact"},{"name":"guanosine tetraphosphate formation","type":"exact"},{"name":"guanosine tetraphosphate synthesis","type":"exact"}],"termid":"GO:0015970"}


id: GO:0102801
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: 4'''-demalonylsalvianin + malonyl-CoA = salvianin + coenzyme A.","definition_xrefs":["GOC:pz","RHEA:35515"],"direct_ancestors":[{"relation_name":"is_a","term_name":"acyltransferase activity, transferring groups other than amino-acyl groups","termid":"GO:0016747"}],"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:0016746"},{"rel_name":"is_a","termid":"GO:0016740"}],"interesting_parent_ids":["GO:0016746","GO:0003674","GO:0016740","GO:0003824"],"is_obsolete":false,"name":"anthocyanin 5-O-glucoside-4'''-O-malonyltransferase activity","secondary_identifiers":["EC:2.3.1.214","MetaCyc:RXN-8139"],"termid":"GO:0102801"}


id: GO:0042286
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: (S)-4-amino-5-oxopentanoate = 5-aminolevulinate.","definition_xrefs":["RHEA:14265"],"direct_ancestors":[{"relation_name":"is_a","term_name":"intramolecular aminotransferase activity","termid":"GO:0016869"}],"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":"glutamate-1-semialdehyde 2,1-aminomutase activity","secondary_identifiers":["EC:5.4.3.8","KEGG_REACTION:R02272","MetaCyc:GSAAMINOTRANS-RXN"],"synonyms":[{"name":"(S)-4-amino-5-oxopentanoate 4,5-aminomutase activity","type":"related"},{"name":"glutamate-1-semialdehyde aminotransferase activity","type":"related"}],"termid":"GO:0042286"}


id: PBO:0055818
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"LIM domain containing preferred translocation partner in lipoma","termid":"PBO:0055818"}


id: GO:0050423
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: thiamine + 2 O2 = thiamine acetic acid + 2 H2O2.","definition_xrefs":["EC:1.1.3.23","MetaCyc:THIAMIN-OXIDASE-RXN"],"direct_ancestors":[{"relation_name":"is_a","term_name":"oxidoreductase activity, acting on the CH-OH group of donors, oxygen as acceptor","termid":"GO:0016899"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0016491"}],"interesting_parent_ids":["GO:0003824","GO:0003674","GO:0016491"],"is_obsolete":false,"name":"thiamine oxidase activity","secondary_identifiers":["RHEA:21280"],"synonyms":[{"name":"thiamin dehydrogenase activity","type":"related"},{"name":"thiamin oxidase activity","type":"exact"},{"name":"thiamin:oxygen 5-oxidoreductase activity","type":"related"},{"name":"thiamine dehydrogenase activity","type":"related"},{"name":"thiamine:oxygen 5-oxidoreductase activity","type":"related"}],"termid":"GO:0050423"}


id: MONDO:0003078
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Retinoblastoma that has spread beyond the eye e.g. to brain, soft tissue/bone, bone marrow.","definition_xrefs":["NCIT:C7848"],"direct_ancestors":[{"relation_name":"is_a","term_name":"retinoblastoma","termid":"MONDO:0008380"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0004992"},{"rel_name":"is_a","termid":"MONDO:0005328"}],"interesting_parent_ids":["MONDO:0004992","MONDO:0005328"],"is_obsolete":false,"name":"extraocular retinoblastoma","secondary_identifiers":["UMLS:C0278719","DOID:4656","MEDGEN:75861"],"synonyms":[{"name":"extraocular retinoblastoma","type":"exact"},{"name":"metastatic retinoblastoma","type":"exact"}],"termid":"MONDO:0003078","xrefs":{"Monarch":{"xref_id":"0003078"}}}


id: MONDO:0010586
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterized by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive.","definition_xrefs":["Orphanet:75497"],"direct_ancestors":[{"relation_name":"is_a","term_name":"X-linked disease","termid":"MONDO:0000425"},{"relation_name":"is_a","term_name":"Ehlers-Danlos syndrome","termid":"MONDO:0020066"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"X-linked Ehlers-Danlos syndrome","secondary_identifiers":["NCIT:C141423","MEDGEN:75671","MESH:C536197","SCTID:67202007","UMLS:C0268341","OMIM:305200","GARD:8505"],"synonyms":[{"name":"EDS 5","type":"related"},{"name":"EDS V","type":"exact"},{"name":"EDS5","type":"related"},{"name":"Ehlers-Danlos syndrome type 5","type":"exact"},{"name":"Ehlers-Danlos syndrome, X-linked","type":"exact"},{"name":"Ehlers-Danlos syndrome, type 5","type":"related"},{"name":"Ehlers-Danlos syndrome, type V","type":"related"}],"termid":"MONDO:0010586","xrefs":{"Monarch":{"xref_id":"0010586"}}}


id: MONDO:0000001
data:
  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id: GO:0006761
data:
  {"annotated_genes":["SJAG_00529"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[68140],"is_not":false,"summary":null,"term":"GO:0006761"}]},"cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the formation of dihydrofolate, the dihydroxylated derivative of folate.","definition_xrefs":["GOC:ai"],"direct_ancestors":[{"relation_name":"is_a","term_name":"folic acid-containing compound biosynthetic process","termid":"GO:0009396"},{"relation_name":"is_a","term_name":"dicarboxylic acid biosynthetic process","termid":"GO:0043650"},{"relation_name":"is_a","term_name":"dihydrofolate metabolic process","termid":"GO:0046452"}],"gene_count":1,"genes_by_uniquename":{"SJAG_00529":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0044281"},{"rel_name":"is_a","termid":"GO:0042559"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0044281","GO:0008150","GO:0042559"],"is_obsolete":false,"name":"dihydrofolate biosynthetic process","references_by_uniquename":{"GO_REF:0000108":null},"synonyms":[{"name":"7,8-dihydrofolate biosynthesis","type":"exact"},{"name":"7,8-dihydrofolate biosynthetic process","type":"exact"},{"name":"dihydrofolate anabolism","type":"exact"},{"name":"dihydrofolate biosynthesis","type":"exact"},{"name":"dihydrofolate formation","type":"exact"},{"name":"dihydrofolate synthesis","type":"exact"}],"termid":"GO:0006761","terms_by_termid":{"GO:0006761":null}}


id: MONDO:0009403
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":"hypertelorism and tetralogy of fallot","secondary_identifiers":["MEDGEN:344606","MESH:C538386","UMLS:C1855903","OMIM:239711"],"synonyms":[{"name":"hypertelorism and tetralogy of fallot","type":"exact"}],"termid":"MONDO:0009403","xrefs":{"Monarch":{"xref_id":"0009403"}}}


id: GO:0060803
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. The series of molecular signals initiated by the binding of a member of the BMP (bone morphogenetic protein) family to its receptor on the surface of a target cell, which contributes to a cell becoming specified to adopt a mesodermal fate.","definition_xrefs":["GOC:dph","GOC:tb","GOC:sdb_2009"],"gene_count":0,"genotype_count":0,"name":"obsolete BMP signaling pathway involved in mesodermal cell fate specification (obsolete GO:0060803)","synonyms":[{"name":"BMP signalling pathway involved in mesodermal cell fate specification","type":"exact"}],"termid":"GO:0060803"}


id: GO:0072203
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The multiplication or reproduction of cells, resulting in the expansion of the population in the metanephros.","definition_xrefs":["GOC:mtg_kidney_jan10"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cell proliferation involved in kidney development","termid":"GO:0072111"},{"relation_name":"part_of","term_name":"metanephros development","termid":"GO:0001656"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"cell proliferation involved in metanephros development","termid":"GO:0072203"}


id: PBO:0051902
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ITGA9 antisense RNA 1","termid":"PBO:0051902"}


id: RO:0002442
data:
  {"annotation_feature_type":"gene","cv_name":"relationship","definition":"An interaction relationship between two organisms living together in more or less intimate association in a relationship in which both organisms benefit from each other (GO).","direct_ancestors":[{"relation_name":"is_a","term_name":"symbiotically_interacts_with","termid":"RO:0002440"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"mutualistically_interacts_with","termid":"RO:0002442"}


id: MONDO:0010673
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":"modifier, X-linked, for Neurofunctional defects","secondary_identifiers":["UMLS:C1839708","OMIM:309840","MESH:C564098","MEDGEN:326945"],"synonyms":[{"name":"Tourette syndrome, modifier of","type":"related"},{"name":"modifier, X-linked, for Neurofunctional defects","type":"exact"}],"termid":"MONDO:0010673","xrefs":{"Monarch":{"xref_id":"0010673"}}}


id: PBO:0030422
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-abnormal_sterol_binding","termid":"PBO:0030422"}


id: MONDO:0009353
data:
  {"annotated_genes":["SJAG_01466","SJAG_03712"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[85070,85071],"is_not":false,"summary":null,"term":"MONDO:0009353"}]},"cv_name":"mondo","definition":"Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterized by neurological manifestations.","definition_xrefs":["Orphanet:395"],"direct_ancestors":[{"relation_name":"is_a","term_name":"homocystinuria","termid":"MONDO:0004737"},{"relation_name":"is_a","term_name":"disorder of folate metabolism and transport","termid":"MONDO:0017313"},{"relation_name":"is_a","term_name":"hereditary peripheral neuropathy","termid":"MONDO:0020127"}],"gene_count":2,"genes_by_uniquename":{"SJAG_01466":null,"SJAG_03712":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0004736"},{"rel_name":"is_a","termid":"MONDO:0005066"},{"rel_name":"is_a","termid":"MONDO:0005244"}],"interesting_parent_ids":["MONDO:0005066","MONDO:0004736","MONDO:0005244"],"is_obsolete":false,"name":"homocystinuria due to methylene tetrahydrofolate reductase deficiency","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["MESH:C537357","GARD:2734","OMIM:236250","NANDO:1201041","SCTID:41797007","UMLS:C1856061","MEDGEN:343470"],"synonyms":[{"name":"5,10 alpha methylenetetrahydro-folate reductase deficiency","type":"related"},{"name":"5,10-alpha-methylenetetrahydro-folate reductase deficiency","type":"related"},{"name":"Homocysteinemia due to methylenetetrahydro-folate reductase deficiency","type":"related"},{"name":"Homocysteinuria due to methylenetetrahydro-folate reductase deficiency","type":"related"},{"name":"MTHFR deficiency","type":"exact"},{"name":"MTHFR deficiency, thermolabile type","type":"related"},{"name":"Methylenetetrahydro-folate reductase deficiency","type":"related"},{"name":"homocystinuria due to MTHFR deficiency","type":"related"},{"name":"homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity","type":"related"},{"name":"homocystinuria due to methylene tetrahydrofolate reductase deficiency","type":"exact"},{"name":"methylene tetrahydrofolate reductase deficiency","type":"exact"},{"name":"methylenetetrahydrofolate reductase deficiency","type":"related"}],"termid":"MONDO:0009353","terms_by_termid":{"MONDO:0009353":null},"xrefs":{"Monarch":{"xref_id":"0009353"}}}


id: PBO:0063460
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"platelet derived growth factor subunit B","termid":"PBO:0063460"}


id: PBO:0003551
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"But2 family protein But2","termid":"PBO:0003551"}


id: PBO:0078336
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"tRNA-Glu (anticodon CTC) 2-1","termid":"PBO:0078336"}


id: PBO:0090750
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"mitochondrial metalloendopeptidase","termid":"PBO:0090750"}


id: GO:0072729
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a Gentian violet stimulus.","definition_xrefs":["GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cellular response to chemical stimulus","termid":"GO:0070887"},{"relation_name":"is_a","term_name":"response to Gentian violet","termid":"GO:0072728"}],"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 Gentian violet","synonyms":[{"name":"cellular response to crystal violet","type":"exact"},{"name":"cellular response to {4-[Bis-(4-dimethylamino-phenyl)-methylene]-cyclohexa-2,5-dienylidene}-dimethyl-ammonium chloride","type":"exact"}],"termid":"GO:0072729"}


id: GO:0034168
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents, or reduces the frequency, rate, or extent of toll-like receptor 10 signaling pathway.","definition_xrefs":["PMID:17328678","PMID:16551253","GOC:add"],"direct_ancestors":[{"relation_name":"is_a","term_name":"negative regulation of immune system process","termid":"GO:0002683"},{"relation_name":"is_a","term_name":"negative regulation of signal transduction","termid":"GO:0009968"},{"relation_name":"is_a","term_name":"regulation of toll-like receptor 10 signaling pathway","termid":"GO:0034167"},{"relation_name":"negatively_regulates","term_name":"toll-like receptor 10 signaling pathway","termid":"GO:0034166"}],"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 toll-like receptor 10 signaling pathway","synonyms":[{"name":"negative regulation of TLR10 signaling pathway","type":"exact"},{"name":"negative regulation of toll-like receptor 10 signalling pathway","type":"exact"}],"termid":"GO:0034168"}


id: PBO:0050895
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"IER5L antisense RNA 1","termid":"PBO:0050895"}


id: PBO:0082557
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Centromeric histone H3-like protein; associates with promoters, accessible chromatin, and RNAPII-bound regions; Cse4p associates with centromeres, promoting kinetochore assembly and Sgo1p association with centromeric chromatin; Ipl1p-dependent phosphorylation destabilizes defective kinetochores promoting bi-orientation; phosphorylation by Cdc7p maintains Cse4p at kinetochores and promotes faithful chromosome segregation; regulated by multiple E3 ligases; complements human homolog CENPA mutations","termid":"PBO:0082557"}


id: GO:0010055
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process in which a relatively unspecialized cell acquires the specialized features of an atrichoblast, a root epidermal cell that will not give rise to a root hair.","definition_xrefs":["GOC:tb"],"direct_ancestors":[{"relation_name":"is_a","term_name":"root epidermal cell differentiation","termid":"GO:0010053"}],"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":"atrichoblast differentiation","termid":"GO:0010055"}


id: PBO:0045647
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"double homeobox A pseudogene 5","termid":"PBO:0045647"}


id: PBO:0012567
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"20S proteasome complex subunit beta 2 (predicted)","termid":"PBO:0012567"}


id: PBO:0088209
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Novel ORF identified via pan-genome analysis; conserved in other strains of S. cerevisiae","termid":"PBO:0088209"}


id: PBO:0018159
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"tRNA N6-threonyl-carbamoyl-adenosine (t6A), a modification protein Sua5 (predicted)","termid":"PBO:0018159"}


id: PR:O94296
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- SPBC887.12 gene.","definition_xrefs":["UniProtKB:O94296","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":"phospholipid-transporting ATPase C887.12 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPBC887.12","synonyms":[{"name":"Spom972h-SPBC887.12","type":"exact"}],"termid":"PR:O94296"}


id: GO:0003948
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: N(4)-(beta-N-acetyl-D-glucosaminyl)-L-asparagine + H2O = N-acetyl-beta-D-glucosaminylamine + L-aspartate + H+.","definition_xrefs":["RHEA:11544","EC:3.5.1.26"],"direct_ancestors":[{"relation_name":"is_a","term_name":"hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides","termid":"GO:0016811"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0016787"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0016810"}],"interesting_parent_ids":["GO:0003674","GO:0016787","GO:0003824","GO:0016810"],"is_obsolete":false,"name":"N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity","secondary_identifiers":["MetaCyc:3.5.1.26-RXN","KEGG_REACTION:R03421"],"synonyms":[{"name":"4-N-(beta-N-acetyl-D-glucosaminyl)-L-asparagine amidohydrolase activity","type":"related"},{"name":"N-aspartyl-beta-glucosaminidase activity","type":"related"},{"name":"N4-(beta-N-acetyl-D-glucosaminyl)-L-asparagine amidohydrolase activity","type":"related"},{"name":"aspartylglucosaminidase activity","type":"related"},{"name":"aspartylglucosylaminase activity","type":"related"},{"name":"aspartylglucosylamine deaspartylase activity","type":"related"},{"name":"aspartylglucosylaminidase activity","type":"related"},{"name":"aspartylglycosylamine amidohydrolase activity","type":"related"},{"name":"beta-aspartylglucosylamine amidohydrolase activity","type":"related"},{"name":"glucosylamidase activity","type":"related"},{"name":"glycosylasparaginase activity","type":"related"}],"termid":"GO:0003948"}


id: MONDO:0014592
data:
  {"annotated_genes":["SJAG_00856"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[85052],"is_not":false,"summary":null,"term":"MONDO:0014592"}]},"cv_name":"mondo","definition":"Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"microcephaly and chorioretinopathy","termid":"MONDO:0000181"}],"gene_count":1,"genes_by_uniquename":{"SJAG_00856":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0700092"},{"rel_name":"is_a","termid":"MONDO:0005328"}],"interesting_parent_ids":["MONDO:0005328","MONDO:0700092"],"is_obsolete":false,"name":"microcephaly and chorioretinopathy 3","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["MEDGEN:902924","DOID:0080107","GARD:18482","OMIM:616335","UMLS:C4225362"],"synonyms":[{"name":"MCCRP3","type":"related"},{"name":"TUBGCP4 microcephaly and chorioretinopathy","type":"exact"},{"name":"microcephaly and chorioretinopathy caused by mutation in TUBGCP4","type":"exact"},{"name":"microcephaly and chorioretinopathy type 3","type":"exact"},{"name":"microcephaly and chorioretinopathy, autosomal recessive, 3","type":"related"},{"name":"microcephaly and chorioretinopathy, autosomal recessive, type 3","type":"exact"}],"termid":"MONDO:0014592","terms_by_termid":{"MONDO:0014592":null},"xrefs":{"Monarch":{"xref_id":"0014592"}}}


id: PBO:0074194
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 4","termid":"PBO:0074194"}


id: GO:1901359
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Binding to tungstate.","definition_xrefs":["GOC:TermGenie"],"direct_ancestors":[{"relation_name":"is_a","term_name":"anion binding","termid":"GO:0043168"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0005488"}],"interesting_parent_ids":["GO:0005488","GO:0003674"],"is_obsolete":false,"name":"tungstate binding","termid":"GO:1901359"}


id: GO:0050519
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: apo-citrate lyase + 2'-(5''-triphosphoribosyl)-3'-dephospho-CoA = diphosphate + holo-citrate lyase.","definition_xrefs":["MetaCyc:2.7.7.61-RXN","EC:2.7.7.61"],"direct_ancestors":[{"relation_name":"is_a","term_name":"nucleotidyltransferase activity","termid":"GO:0016779"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0016740"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0016779"}],"interesting_parent_ids":["GO:0016779","GO:0003674","GO:0016740","GO:0003824"],"is_obsolete":false,"name":"holo-citrate lyase synthase activity","secondary_identifiers":["RHEA:16333"],"synonyms":[{"name":"2'-(5''-phosphoribosyl)-3'-dephospho-CoA transferase activity","type":"related"},{"name":"2'-(5''-triphosphoribosyl)-3'-dephospho-CoA:apo-citrate lyase activity","type":"related"},{"name":"2'-(5''-triphosphoribosyl)-3'-dephospho-CoA:apo-citrate lyase adenylyltransferase activity","type":"related"},{"name":"CitX","type":"related"},{"name":"holo-ACP synthase activity","type":"related"}],"termid":"GO:0050519"}


id: PBO:0043976
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"CSAG family member 2","termid":"PBO:0043976"}


id: GO:0071385
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucocorticoid stimulus. Glucocorticoids are hormonal C21 corticosteroids synthesized from cholesterol with the ability to bind with the cortisol receptor and trigger similar effects. Glucocorticoids act primarily on carbohydrate and protein metabolism, and have anti-inflammatory effects.","definition_xrefs":["GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"response to glucocorticoid","termid":"GO:0051384"},{"relation_name":"is_a","term_name":"cellular response to corticosteroid stimulus","termid":"GO:0071384"}],"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 glucocorticoid stimulus","termid":"GO:0071385"}


id: MONDO:0012021
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"myopia","termid":"MONDO:0001384"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005328"}],"interesting_parent_ids":["MONDO:0005328"],"is_obsolete":false,"name":"myopia 17, autosomal dominant","secondary_identifiers":["OMIM:608367","UMLS:C3888211","MEDGEN:854818"],"synonyms":[{"name":"MYP17","type":"exact"},{"name":"myopia 17, autosomal dominant","type":"exact"},{"name":"myopia 4","type":"related"},{"name":"myopia 4, formerly","type":"related"}],"termid":"MONDO:0012021","xrefs":{"Monarch":{"xref_id":"0012021"}}}


id: PBO:0074692
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"small nucleolar RNA, H/ACA box 70B","termid":"PBO:0074692"}


id: PR:P87227
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A centromere protein I that is encoded in the genome of Schizosaccharomyces pombe 972h-.","definition_xrefs":["PANTHER:PTHR15408:SF3","OMA:SCHPO00370","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":"inner centromere protein mis6 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAC1687.20c","secondary_identifiers":["UniProtKB:P87227"],"synonyms":[{"name":"Spom972h-CENPI","type":"exact"},{"name":"sim4 complex subunit mis6 (Schizosaccharomyces pombe 972h-)","type":"exact"}],"termid":"PR:P87227"}


id: MONDO:0000555
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete autosomal recessive hypophosphatemic rickets (obsolete MONDO:0000555)","termid":"MONDO:0000555","xrefs":{"Monarch":{"xref_id":"0000555"}}}


id: PBO:0056895
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"midnolin","termid":"PBO:0056895"}


id: MONDO:0006511
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete developmental dysplasia of the hip (obsolete MONDO:0006511)","termid":"MONDO:0006511","xrefs":{"Monarch":{"xref_id":"0006511"}}}


id: GO:0071657
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that activates or increases the frequency, rate, or extent of production of granulocyte colony-stimulating factor.","definition_xrefs":["GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of granulocyte colony-stimulating factor production","termid":"GO:0071655"},{"relation_name":"is_a","term_name":"positive regulation of macrophage colony-stimulating factor production","termid":"GO:1901258"},{"relation_name":"positively_regulates","term_name":"granulocyte colony-stimulating factor production","termid":"GO:0071611"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"positively_regulates","termid":"GO:0010467"},{"rel_name":"regulates","termid":"GO:0010467"}],"interesting_parent_ids":["GO:0008150","GO:0010467"],"is_obsolete":false,"name":"positive regulation of granulocyte colony-stimulating factor production","synonyms":[{"name":"positive regulation of CSF3 production","type":"exact"},{"name":"positive regulation of G-CSF production","type":"exact"},{"name":"positive regulation of colony stimulating factor 3 (granulocyte) production","type":"exact"},{"name":"positive regulation of filgrastim production","type":"exact"},{"name":"positive regulation of granulocyte colony stimulating factor production","type":"exact"},{"name":"positive regulation of lenograstim production","type":"exact"},{"name":"positive regulation of pluripoietin production","type":"exact"}],"termid":"GO:0071657"}


id: PBO:0055381
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 2811","termid":"PBO:0055381"}


id: GO:0002398
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The aggregation, arrangement and bonding together of a set of components to form an MHC class Ib protein complex. Class Ib here refers to non-classical class I molecules.","definition_xrefs":["PMID:15928678","PMID:15928680","GOC:add"],"direct_ancestors":[{"relation_name":"is_a","term_name":"MHC protein complex assembly","termid":"GO:0002396"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0065003"},{"rel_name":"part_of","termid":"GO:0044085"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0044085","GO:0008150","GO:0065003"],"is_obsolete":false,"name":"MHC class Ib protein complex assembly","termid":"GO:0002398"}


id: GO:1903821
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. Any detection of stimulus that is involved in morphogenesis checkpoint.","definition_xrefs":["GOC:TermGenie","GOC:mtg_cell_cycle","GO_REF:0000060"],"gene_count":0,"genotype_count":0,"name":"obsolete detection of stimulus involved in morphogenesis checkpoint (obsolete GO:1903821)","synonyms":[{"name":"detection of stimulus involved in septin checkpoint","type":"related"},{"name":"perception of stimulus involved in morphogenesis checkpoint","type":"exact"},{"name":"perception of stimulus involved in septin checkpoint","type":"related"},{"name":"stimulus detection involved in morphogenesis checkpoint","type":"exact"},{"name":"stimulus detection involved in septin checkpoint","type":"related"},{"name":"stimulus sensing involved in morphogenesis checkpoint","type":"exact"},{"name":"stimulus sensing involved in septin checkpoint","type":"related"}],"termid":"GO:1903821"}


id: PBO:0073876
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"solute carrier family 10 member 4","termid":"PBO:0073876"}


id: PBO:0068861
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U6 small nuclear 101, pseudogene","termid":"PBO:0068861"}


id: PBO:0073334
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"serpin family A member 10","termid":"PBO:0073334"}


id: GO:0045474
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. A change in state or activity of an insect (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ether stimulus.","definition_xrefs":["GOC:jid","GOC:go_curators"],"gene_count":0,"genotype_count":0,"name":"obsolete response to ether (sensu Insecta) (obsolete GO:0045474)","synonyms":[{"name":"response to ether (sensu Insecta)","type":"exact"}],"termid":"GO:0045474"}


id: PBO:0075627
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"shadow of prion protein","termid":"PBO:0075627"}


id: GO:0015269
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Enables the transmembrane transfer of a potassium cation by a channel that opens when a calcium cation has been bound by the channel complex or one of its constituent parts.","definition_xrefs":["GOC:mtg_transport","GOC:dph"],"direct_ancestors":[{"relation_name":"is_a","term_name":"calcium-activated cation channel activity","termid":"GO:0005227"},{"relation_name":"is_a","term_name":"potassium channel activity","termid":"GO:0005267"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0022857"},{"rel_name":"is_a","termid":"GO:0005215"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0005215","GO:0003674","GO:0022857"],"is_obsolete":false,"name":"calcium-activated potassium channel activity","secondary_identifiers":["Reactome:R-HSA-9667809","Reactome:R-HSA-9663752"],"termid":"GO:0015269"}


id: PBO:0057112
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 200a","termid":"PBO:0057112"}


id: GO:1902981
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. Any synthesis of RNA primer involved in mitotic cell cycle DNA replication.","definition_xrefs":["GO_REF:0000060","GOC:TermGenie"],"gene_count":0,"genotype_count":0,"name":"obsolete synthesis of RNA primer involved in mitotic DNA replication (obsolete GO:1902981)","synonyms":[{"name":"synthesis of RNA primer involved in mitotic cell cycle DNA replication","type":"exact"}],"termid":"GO:1902981"}


id: PBO:0049374
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"general transcription factor IIIA pseudogene 4","termid":"PBO:0049374"}


id: PBO:0056019
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"LSM family member 14B","termid":"PBO:0056019"}


id: PR:Q09674
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- SPAC5H10.01 gene.","definition_xrefs":["UniProtKB:Q09674","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":"UPF0317 protein C5H10.01 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAC5H10.01","synonyms":[{"name":"Spom972h-SPAC5H10.01","type":"exact"}],"termid":"PR:Q09674"}


id: PBO:0050931
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"interferon induced transmembrane protein 10","termid":"PBO:0050931"}


id: PBO:0005392
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"complexed with Cdc5 protein Cwf20","termid":"PBO:0005392"}


id: FYPO:0006080
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 nuclear exosome foci is normal (i.e. indistinguishable from wild type). Nuclear exosome foci, also called Mmi1 foci, are small structures that form within the nucleus, and contain proteins involved in degrading meiosis-specific RNAs during the mitotic cell cycle, such as Mmi1, Iss10, and Red1.","definition_xrefs":["PMID:21317872","PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"normal protein localization during vegetative growth","termid":"FYPO:0000644"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000138"},{"rel_name":"is_a","termid":"FYPO:0000257"},{"rel_name":"is_a","termid":"FYPO:0001312"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0000002"}],"interesting_parent_ids":["FYPO:0000138","FYPO:0001320","FYPO:0001312","FYPO:0000257","FYPO:0000002"],"is_obsolete":false,"name":"normal protein localization to nuclear exosome focus during vegetative growth","synonyms":[{"name":"normal protein localisation to nuclear exosome focus during vegetative growth","type":"exact"},{"name":"normal protein localization to Mmi1 focus during vegetative growth","type":"exact"},{"name":"normal protein localization to Mmi1 nuclear focus during vegetative growth","type":"exact"},{"name":"normal protein localization to nuclear exosome foci during vegetative growth","type":"exact"},{"name":"normal protein localization to nuclear exosome focus during mitotic cell cycle","type":"related"}],"termid":"FYPO:0006080"}


id: PBO:0085202
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Outer kinetochore protein required for chromosome stability; involved in new kinetochore assembly and sister chromatid cohesion; forms a stable complex with Iml3p; peripheral component of the Ctf19 kinetochore complex that interacts with Ctf19p, Ctf3p, and Mif2p; required for the spindle assembly checkpoint; orthologous to human centromere constitutive-associated network (CCAN) subunit CENP-N and fission yeast mis15","termid":"PBO:0085202"}


id: GO:0008358
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The specification of the anterior/posterior axis of the embryo by gradients of maternally-transcribed gene products; exemplified in insects by the morphogens, bicoid and nanos.","definition_xrefs":["ISBN:0879694238"],"direct_ancestors":[{"relation_name":"is_a","term_name":"anterior/posterior axis specification, embryo","termid":"GO:0008595"}],"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":"maternal determination of anterior/posterior axis, embryo","termid":"GO:0008358"}


id: PBO:0044625
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"doublecortin domain containing 2C","termid":"PBO:0044625"}


id: PBO:0036094
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-protein_interaction_during_mitotic_S_phase","termid":"PBO:0036094"}


id: PBO:0002185
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"tRNA Phenylalanine","termid":"PBO:0002185"}


id: PBO:0072746
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"S100 calcium binding protein A7 pseudogene 2","termid":"PBO:0072746"}


id: MONDO:0021444
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A benign neoplasm that involves the large intestine.","definition_xrefs":["MONDO:patterns/location"],"direct_ancestors":[{"relation_name":"is_a","term_name":"intestinal benign neoplasm","termid":"MONDO:0003062"},{"relation_name":"is_a","term_name":"large intestine disorder","termid":"MONDO:0024634"}],"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":"benign neoplasm of large intestine","secondary_identifiers":["NCIT:C4610","UMLS:C0347272","SCTID:92170008","MEDGEN:91125"],"synonyms":[{"name":"benign colorectal neoplasm","type":"exact"},{"name":"benign colorectal neoplasms","type":"exact"},{"name":"benign colorectal tumor","type":"exact"},{"name":"benign colorectal tumors","type":"exact"},{"name":"benign colorectal tumour","type":"exact"},{"name":"benign colorectal tumours","type":"exact"},{"name":"benign large bowel neoplasm","type":"exact"},{"name":"benign large bowel tumor","type":"exact"},{"name":"benign large bowel tumour","type":"exact"},{"name":"benign large intestine neoplasm","type":"exact"},{"name":"benign large intestine tumor","type":"exact"},{"name":"benign large intestine tumour","type":"exact"},{"name":"benign neoplasm of large bowel","type":"exact"},{"name":"benign neoplasm of the large bowel","type":"exact"},{"name":"benign neoplasm of the large intestine","type":"exact"},{"name":"benign tumor of large bowel","type":"exact"},{"name":"benign tumor of large intestine","type":"exact"},{"name":"benign tumor of the large bowel","type":"exact"},{"name":"benign tumor of the large intestine","type":"exact"},{"name":"benign tumour of large bowel","type":"exact"},{"name":"benign tumour of large intestine","type":"exact"},{"name":"benign tumour of the large bowel","type":"exact"},{"name":"benign tumour of the large intestine","type":"exact"},{"name":"colorectal neoplasms, benign","type":"exact"},{"name":"colorectal tumors, benign","type":"exact"},{"name":"large intestine benign neoplasm","type":"exact"},{"name":"neoplasms, colorectal, benign","type":"exact"},{"name":"tumors, colorectal, benign","type":"exact"}],"termid":"MONDO:0021444","xrefs":{"Monarch":{"xref_id":"0021444"}}}


id: PBO:0045318
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"double C2 domain alpha","termid":"PBO:0045318"}


id: MONDO:0036781
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A non-metastasizing neoplasm that arises from the structures of the axilla.","definition_xrefs":["NCIT:C35750"],"direct_ancestors":[{"relation_name":"is_a","term_name":"thoracic benign neoplasm","termid":"MONDO:0000634"},{"relation_name":"is_a","term_name":"axillary neoplasm","termid":"MONDO:0036779"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"benign axillary neoplasm","secondary_identifiers":["MEDGEN:146338","UMLS:C0684828"],"synonyms":[{"name":"axillary neoplasm, benign","type":"exact"},{"name":"benign axillary neoplasm","type":"exact"}],"termid":"MONDO:0036781","xrefs":{"Monarch":{"xref_id":"0036781"}}}


id: GO:0042856
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the breakdown of eugenol, a colorless, aromatic, liquid hydrocarbon (C10H12O2) found in clove oil.","definition_xrefs":["GOC:jl"],"direct_ancestors":[{"relation_name":"is_a","term_name":"phenol-containing compound catabolic process","termid":"GO:0019336"},{"relation_name":"is_a","term_name":"eugenol metabolic process","termid":"GO:0042854"},{"relation_name":"is_a","term_name":"phenylpropanoid catabolic process","termid":"GO:0046271"},{"relation_name":"is_a","term_name":"olefinic compound catabolic process","termid":"GO:0120256"},{"relation_name":"is_a","term_name":"ether catabolic process","termid":"GO:1901502"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0019748"},{"rel_name":"is_a","termid":"GO:0044281"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0019748","GO:0044281","GO:0008150"],"is_obsolete":false,"name":"eugenol catabolic process","synonyms":[{"name":"4-allyl-2-methoxyphenol catabolic process","type":"exact"},{"name":"4-allyl-2-methoxyphenol catabolism","type":"exact"},{"name":"eugenic acid catabolic process","type":"exact"},{"name":"eugenic acid catabolism","type":"exact"},{"name":"eugenol breakdown","type":"exact"},{"name":"eugenol catabolism","type":"exact"},{"name":"eugenol degradation","type":"exact"}],"termid":"GO:0042856"}


id: GO:0004447
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: iodide + H2O2 = iodine + 2 H2O.","definition_xrefs":["RHEA:23336"],"direct_ancestors":[{"relation_name":"is_a","term_name":"haloperoxidase activity","termid":"GO:0140905"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0016491"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0016491","GO:0003674","GO:0003824"],"is_obsolete":false,"name":"iodide peroxidase activity","secondary_identifiers":["MetaCyc:IODIDE-PEROXIDASE-RXN","EC:1.11.1.8"],"synonyms":[{"name":"TPO activity","type":"related"},{"name":"iodinase activity","type":"related"},{"name":"thyroid peroxidase activity","type":"related"},{"name":"thyroperoxidase activity","type":"related"}],"termid":"GO:0004447"}


id: PR:000037085
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A tropomyosin cdc8 homodimer (Schizosaccharomyces pombe) that is compose of two subunits of the non-acetylated form of tropomyosin cdc8.","definition_xrefs":["PRO:DAN"],"direct_ancestors":[{"relation_name":"is_a","term_name":"tropomyosin cdc8 homodimer (Schizosaccharomyces pombe)","termid":"PR:000037083"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"tropomyosin cdc8 homodimer, non-acetylated form (Schizosaccharomyces pombe)","pombase_gene_id":"SPAC27F1.02c","synonyms":[{"name":"Spom-(cdc8/AcRes-)*2","type":"exact"}],"termid":"PR:000037085"}


id: PBO:0035740
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-increased_level_of_ubiquitinated_protein_in_cell_during_cellular_response_to_methyl_methanesulfonate","termid":"PBO:0035740"}


id: PBO:0085582
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Protein involved in 7-aminocholesterol resistance; has seven potential membrane-spanning regions; expression is induced under both low-heme and low-oxygen conditions; member of the fungal lipid-translocating exporter (LTE) family of protein; RTA1 has a paralog, YLR046C, that arose from the whole genome duplication","termid":"PBO:0085582"}


id: GO:0097411
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The series of molecular signals mediated by hypoxia-inducible factor (HIF1) in response to lowered oxygen levels (hypoxia). Under hypoxic conditions, the oxygen-sensitive alpha-subunit of hypoxia-inducible factor (HIF)-1 dimerizes with a HIF1-beta subunit (also called ARNT or aryl-hydrocarbon-receptor nuclear translocator), translocates to the nucleus and activates transcription of genes whose products participate in responding to hypoxia.","definition_xrefs":["PMID:16887934","GOC:jc","GOC:bf","PMID:26579469"],"direct_ancestors":[{"relation_name":"is_a","term_name":"intracellular signal transduction","termid":"GO:0035556"},{"relation_name":"part_of","term_name":"cellular response to hypoxia","termid":"GO:0071456"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"part_of","termid":"GO:0023052"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0023052","GO:0008150"],"is_obsolete":false,"name":"hypoxia-inducible factor-1alpha signaling pathway","synonyms":[{"name":"HIF1alpha pathway","type":"exact"},{"name":"hypoxia-inducible factor signaling","type":"exact"},{"name":"hypoxia-inducible factor-1alpha signalling pathway","type":"exact"}],"termid":"GO:0097411"}


id: GO:0015207
data:
  {"annotated_genes":["SJAG_03777"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[112339],"is_not":false,"summary":null,"term":"GO:0015207"}]},"cv_name":"molecular_function","definition":"Enables the transfer of adenine, 6-aminopurine, from one side of a membrane to the other.","definition_xrefs":["GOC:go_curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"purine nucleobase transmembrane transporter activity","termid":"GO:0005345"}],"gene_count":1,"genes_by_uniquename":{"SJAG_03777":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005215"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0022857"}],"interesting_parent_ids":["GO:0005215","GO:0003674","GO:0022857"],"is_obsolete":false,"name":"adenine transmembrane transporter activity","references_by_uniquename":{"GO_REF:0000107":null},"secondary_identifiers":["Reactome:R-HSA-5672027","Reactome:R-HSA-163215"],"termid":"GO:0015207","terms_by_termid":{"GO:0015207":null}}


id: PATO:0001047
data:
  {"annotation_feature_type":"gene","cv_name":"quality","gene_count":0,"genotype_count":0,"name":"OBSOLETE PATO:0001047 absolute resistance (obsolete PATO:0001047)","termid":"PATO:0001047"}


id: PBO:0057988
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 3913-2","termid":"PBO:0057988"}


id: RO:HOM0000005
data:
  {"annotation_feature_type":"gene","cv_name":"relationship","definition":"Homoplasy that involves homologous underlying mechanisms or structures.","direct_ancestors":[{"relation_name":"is_a","term_name":"in_homoplasy_relationship_with","termid":"RO:HOM0000002"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"in_parallelism_relationship_with","synonyms":[{"name":"parallel evolution","type":"exact"}],"termid":"RO:HOM0000005"}


id: MONDO:0017111
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"Dandy-Walker syndrome","termid":"MONDO:0009072"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0020022"}],"interesting_parent_ids":["MONDO:0020022"],"is_obsolete":false,"name":"isolated Dandy-Walker malformation without hydrocephalus","secondary_identifiers":["Orphanet:269215","MEDGEN:1842486","UMLS:C5680778","GARD:20994"],"termid":"MONDO:0017111","xrefs":{"Monarch":{"xref_id":"0017111"}}}


id: GO:0010320
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"OBSOLETE. Catalysis of the hydrolysis of peptide linkages in oligopeptides or polypeptides by a reaction mechanism in which arginine or lysine residues act as nucleophiles.","definition_xrefs":["GOC:tair_curators"],"gene_count":0,"genotype_count":0,"name":"obsolete arginine/lysine endopeptidase activity (obsolete GO:0010320)","synonyms":[{"name":"arginine/lysine endopeptidase activity","type":"exact"}],"termid":"GO:0010320"}


id: MONDO:0009358
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":"Hutterite cerebroosteonephrodysplasia syndrome","secondary_identifiers":["MESH:C536074","OMIM:236450","UMLS:C1856054","MEDGEN:343466"],"synonyms":[{"name":"Hutterite cerebroosteonephrodysplasia syndrome","type":"exact"},{"name":"cerebroosteonephosis syndrome","type":"related"},{"name":"cond","type":"related"}],"termid":"MONDO:0009358","xrefs":{"Monarch":{"xref_id":"0009358"}}}


id: GO:2000639
data:
  {"annotated_genes":["SJAG_01253","SJAG_00642","SJAG_00293"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[91033,105698,111505],"is_not":false,"summary":null,"term":"GO:2000639"}]},"cv_name":"biological_process","definition":"Any process that stops, prevents or reduces the frequency, rate or extent of the SREBP signaling pathway.","definition_xrefs":["GOC:BHF"],"direct_ancestors":[{"relation_name":"is_a","term_name":"negative regulation of intracellular signal transduction","termid":"GO:1902532"},{"relation_name":"is_a","term_name":"regulation of SREBP signaling pathway","termid":"GO:2000638"},{"relation_name":"negatively_regulates","term_name":"SREBP signaling pathway","termid":"GO:0032933"}],"gene_count":3,"genes_by_uniquename":{"SJAG_00293":null,"SJAG_00642":null,"SJAG_01253":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"regulates","termid":"GO:0023052"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"negatively_regulates","termid":"GO:0023052"}],"interesting_parent_ids":["GO:0008150","GO:0023052"],"is_obsolete":false,"name":"negative regulation of SREBP signaling pathway","references_by_uniquename":{"GO_REF:0000107":null},"synonyms":[{"name":"negative regulation of SREBP-mediated signaling pathway","type":"exact"},{"name":"negative regulation of SREBP-mediated signalling pathway","type":"exact"}],"termid":"GO:2000639","terms_by_termid":{"GO:2000639":null}}


id: PBO:0066831
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RN7SK pseudogene 130","termid":"PBO:0066831"}


id: FYPO:0004827
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cell morphology phenotype observed in the vegetative growth phase of the life cycle in which a cell dies as it goes through mitosis, usually as a result of abnormal chromosome and spindle dynamics.","definition_xrefs":["PMID:16824200","PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"inviable vegetative cell","termid":"FYPO:0001489"}],"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:0000004"}],"interesting_parent_ids":["FYPO:0001320","FYPO:0000002","FYPO:0000004"],"is_obsolete":false,"name":"inviable vegetative cell with cell death during mitosis","synonyms":[{"name":"inviable cell with cell death during mitosis during vegetative growth","type":"exact"},{"name":"inviable vegetative cell with cell death during mitosis during mitotic cell cycle","type":"related"},{"name":"lethal; vegetative cell with cell death during mitosis","type":"exact"}],"termid":"FYPO:0004827"}


id: GO:0016476
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the surface configuration of an embryonic cell.","definition_xrefs":["GOC:dph","GOC:tb"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of cell shape","termid":"GO:0008360"},{"relation_name":"is_a","term_name":"regulation of embryonic development","termid":"GO:0045995"}],"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 embryonic cell shape","synonyms":[{"name":"shape changes of embryonic cells","type":"related"}],"termid":"GO:0016476"}


id: FYPO:0001102
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 protein measured in a cell during a cellular response to hydrogen peroxide is higher than normal. Total protein or a specific protein may be affected.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"increased protein level during vegetative growth","termid":"FYPO:0001327"},{"relation_name":"is_a","term_name":"altered protein level during cellular response to hydrogen peroxide","termid":"FYPO:0001548"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"output_of","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"output_of","termid":"FYPO:0001985"},{"rel_name":"output_of","termid":"FYPO:0006551"}],"interesting_parent_ids":["FYPO:0005447","FYPO:0001320","FYPO:0006551","FYPO:0000002","FYPO:0001985"],"is_obsolete":false,"name":"increased protein level during cellular response to hydrogen peroxide","synonyms":[{"name":"increased protein accumulation during cellular response to hydrogen peroxide","type":"related"},{"name":"increased protein level during cellular response to H2O2","type":"exact"},{"name":"increased protein level during cellular response to hydrogen peroxide during mitotic cell cycle","type":"related"},{"name":"increased protein level during cellular response to hydrogen peroxide during vegetative growth","type":"exact"}],"termid":"FYPO:0001102"}


id: MONDO:0009018
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision.","definition_xrefs":["Orphanet:98972"],"direct_ancestors":[{"relation_name":"is_a","term_name":"stromal corneal dystrophy","termid":"MONDO:0020213"},{"relation_name":"is_a","term_name":"posterior corneal dystrophy","termid":"MONDO:0020214"}],"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":"central cloudy dystrophy of François","secondary_identifiers":["UMLS:C1622427","SCTID:419074008","GARD:16881","MEDGEN:302006","OMIM:217600","MESH:C563262"],"synonyms":[{"name":"CCDF","type":"exact"},{"name":"central cloudy corneal dystrophy of François","type":"exact"},{"name":"central cloudy dystrophy of Francois","type":"exact"},{"name":"central cloudy dystrophy of François","type":"exact"},{"name":"corneal dystrophy, central type","type":"related"}],"termid":"MONDO:0009018","xrefs":{"Monarch":{"xref_id":"0009018"}}}


id: PR:G2TRQ9
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- tam10 gene.","definition_xrefs":["PRO:DNx","UniProtKB:G2TRQ9"],"direct_ancestors":[{"relation_name":"is_a","term_name":"Schizosaccharomyces pombe 972h- protein","termid":"PR:000029043"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"uncharacterized protein tam10 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPBC14C8.19","synonyms":[{"name":"Spom972h-tam10","type":"exact"},{"name":"transcripts altered in meiosis protein 10 (Schizosaccharomyces pombe 972h-)","type":"exact"}],"termid":"PR:G2TRQ9"}


id: PR:O74535
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- ppn1 gene.","definition_xrefs":["UniProtKB:O74535","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":"cleavage and polyadenylation factor complex subunit C74.02c (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPCC74.02c","synonyms":[{"name":"Spom972h-ppn1","type":"exact"}],"termid":"PR:O74535"}


id: MONDO:0006866
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)","definition_xrefs":["MESH:D020941"],"direct_ancestors":[{"relation_name":"is_a","term_name":"myasthenia gravis","termid":"MONDO:0009688"}],"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":"neonatal myasthenia gravis","secondary_identifiers":["DOID:14043","SCTID:82178003","UMLS:C0158982","icd11.foundation:1274860004","MedDRA:10028963","ICD9:775.2","MEDGEN:102360"],"synonyms":[{"name":"neonatal myasthenia gravis","type":"exact"}],"termid":"MONDO:0006866","xrefs":{"Monarch":{"xref_id":"0006866"}}}


id: MONDO:0002358
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Carcinoma that arises from the laryngeal epithelium. More than 90% of laryngeal carcinomas are squamous cell carcinomas. The remainder are adenoid cystic carcinomas, mucoepidermoid carcinomas and carcinomas with neuroendocrine differentiation.","definition_xrefs":["NCIT:C4855"],"direct_ancestors":[{"relation_name":"is_a","term_name":"larynx cancer","termid":"MONDO:0002352"},{"relation_name":"is_a","term_name":"carcinoma","termid":"MONDO:0004993"}],"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":"laryngeal carcinoma","secondary_identifiers":["UMLS:C0595989","MEDGEN:108889","DOID:2600","SCTID:276975007"],"synonyms":[{"name":"cancer of larynx","type":"broad"},{"name":"cancer of the larynx","type":"broad"},{"name":"carcinoma of larynx","type":"exact"},{"name":"carcinoma of the larynx","type":"exact"},{"name":"laryngeal cancer","type":"broad"},{"name":"laryngeal carcinoma","type":"exact"},{"name":"laryngeal throat cancer","type":"broad"},{"name":"larynx carcinoma","type":"exact"}],"termid":"MONDO:0002358","xrefs":{"Monarch":{"xref_id":"0002358"}}}


id: MONDO:0015875
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete rare non-malformative uterine adnexal disease (obsolete MONDO:0015875)","secondary_identifiers":["Orphanet:180303"],"termid":"MONDO:0015875","xrefs":{"Monarch":{"xref_id":"0015875"}}}


id: PBO:0053907
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 1201","termid":"PBO:0053907"}


id: GO:0061313
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The series of molecular signals generated as a consequence of a fibroblast growth factor receptor binding to one of its physiological ligands and contributing to the progression of the heart over time.","definition_xrefs":["GOC:mtg_heart"],"direct_ancestors":[{"relation_name":"is_a","term_name":"fibroblast growth factor receptor signaling pathway","termid":"GO:0008543"},{"relation_name":"is_a","term_name":"cell surface receptor signaling pathway involved in heart development","termid":"GO:0061311"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"part_of","termid":"GO:0023052"}],"interesting_parent_ids":["GO:0023052","GO:0008150"],"is_obsolete":false,"name":"fibroblast growth factor receptor signaling pathway involved in heart development","synonyms":[{"name":"fibroblast growth factor receptor signalling pathway involved in heart development","type":"exact"}],"termid":"GO:0061313"}


id: GO:0031111
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents, or reduces the frequency, rate or extent of microtubule polymerization or depolymerization.","definition_xrefs":["GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of microtubule polymerization or depolymerization","termid":"GO:0031110"},{"relation_name":"is_a","term_name":"negative regulation of cytoskeleton organization","termid":"GO:0051494"},{"relation_name":"negatively_regulates","term_name":"microtubule polymerization or depolymerization","termid":"GO:0031109"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"negatively_regulates","termid":"GO:0007010"},{"rel_name":"negatively_regulates","termid":"GO:0000226"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"regulates","termid":"GO:0007010"},{"rel_name":"regulates","termid":"GO:0000226"}],"interesting_parent_ids":["GO:0007010","GO:0000226","GO:0008150"],"is_obsolete":false,"name":"negative regulation of microtubule polymerization or depolymerization","synonyms":[{"name":"down regulation of microtubule polymerization or depolymerization","type":"exact"},{"name":"down-regulation of microtubule polymerization or depolymerization","type":"exact"},{"name":"downregulation of microtubule polymerization or depolymerization","type":"exact"},{"name":"inhibition of microtubule polymerization or depolymerization","type":"narrow"}],"termid":"GO:0031111"}


id: FYPO:0006136
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 2,3-butanediol measured in a cell is higher than normal.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"increased level of substance in cell during vegetative growth","termid":"FYPO:0001330"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0001320"}],"interesting_parent_ids":["FYPO:0000002","FYPO:0001985","FYPO:0001320"],"is_obsolete":false,"name":"increased cellular 2,3-butanediol level","synonyms":[{"name":"increased 2,3-butanediol accumulation","type":"related"},{"name":"increased cellular 2,3-butanediol level during mitotic cell cycle","type":"related"},{"name":"increased cellular 2,3-butanediol level during vegetative growth","type":"exact"},{"name":"increased cellular butane-2,3-diol level","type":"exact"}],"termid":"FYPO:0006136"}


id: GO:0032408
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Binding to a MutSbeta mismatch repair complex.","definition_xrefs":["GOC:vk"],"direct_ancestors":[{"relation_name":"is_a","term_name":"mismatch repair complex binding","termid":"GO:0032404"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005488"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0005488","GO:0003674"],"is_obsolete":false,"name":"MutSbeta complex binding","termid":"GO:0032408"}


id: MONDO:0018233
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group include otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.","definition_xrefs":["Orphanet:364541"],"direct_ancestors":[{"relation_name":"is_a","term_name":"filamin-related bone disorder","termid":"MONDO:0019690"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"otopalatodigital syndrome spectrum disorder","secondary_identifiers":["DOID:0111782","MEDGEN:411701","UMLS:C2748918","GARD:21570"],"synonyms":[{"name":"OPD spectrum disorder","type":"exact"},{"name":"OPSD","type":"exact"}],"termid":"MONDO:0018233","xrefs":{"Monarch":{"xref_id":"0018233"}}}


id: GO:0090492
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"OBSOLETE. Catalyzes the reaction: N,N-Dihydroxy-L-tryptophan = Indole-3-acetaldehyde oxime + CO2 + H2O.","definition_xrefs":["KEGG_REACTION:R09585"],"gene_count":0,"genotype_count":0,"name":"obsolete N,N-Dihydroxy-L-tryptophan decarboxylase activity (obsolete GO:0090492)","termid":"GO:0090492"}


id: PBO:0083697
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Epsilon subunit of the F1 sector of mitochondrial F1F0 ATP synthase; which is a large, evolutionarily conserved enzyme complex required for ATP synthesis; F1 translationally regulates ATP6 and ATP8 expression to achieve a balanced output of ATP synthase genes encoded in nucleus and mitochondria; phosphorylated","termid":"PBO:0083697"}


id: GO:0099631
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"The cytoplasmic component of the postsynaptic endocytic zone.","definition_xrefs":["GOC:dos"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cell cortex region","termid":"GO:0099738"},{"relation_name":"part_of","term_name":"postsynaptic endocytic zone","termid":"GO:0098843"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005737"},{"rel_name":"is_a","termid":"GO:0005938"},{"rel_name":"is_a","termid":"GO:0005575"}],"interesting_parent_ids":["GO:0005938","GO:0005575","GO:0005737"],"is_obsolete":false,"name":"postsynaptic endocytic zone cytoplasmic component","termid":"GO:0099631"}


id: MONDO:0004132
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A squamous cell carcinoma arising from the mucosa of the anal canal.","definition_xrefs":["NCIT:C7469"],"direct_ancestors":[{"relation_name":"is_a","term_name":"anal squamous cell carcinoma","termid":"MONDO:0006082"},{"relation_name":"is_a","term_name":"anal canal carcinoma","termid":"MONDO:0007108"}],"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":"anal canal squamous cell carcinoma","secondary_identifiers":["Orphanet:424019","DOID:7177","UMLS:C1332262","GARD:21774","icd11.foundation:585238371","MEDGEN:233979"],"synonyms":[{"name":"anal canal squamous cell carcinoma","type":"exact"},{"name":"squamous cell carcinoma of the anal canal","type":"exact"}],"termid":"MONDO:0004132","xrefs":{"Monarch":{"xref_id":"0004132"}}}


id: PBO:0079802
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"UDP glucuronosyltransferase family 2 member B17","termid":"PBO:0079802"}


id: GO:0000162
data:
  {"annotated_genes":["SJAG_01455","SJAG_05007","SJAG_02505","SJAG_03167"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[73094,74060,77015,79068],"is_not":false,"summary":null,"term":"GO:0000162"}]},"cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the formation of L-tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid; L-tryptophan is synthesized from chorismate via anthranilate.","definition_xrefs":["GOC:mah","MetaCyc:TRPSYN-PWY","ISBN:0471331309"],"direct_ancestors":[{"relation_name":"is_a","term_name":"L-tryptophan metabolic process","termid":"GO:0006568"},{"relation_name":"is_a","term_name":"aromatic amino acid family biosynthetic process","termid":"GO:0009073"},{"relation_name":"is_a","term_name":"indolalkylamine biosynthetic process","termid":"GO:0046219"},{"relation_name":"is_a","term_name":"erythrose 4-phosphate/phosphoenolpyruvate family amino acid biosynthetic process","termid":"GO:1902223"}],"gene_count":4,"genes_by_uniquename":{"SJAG_01455":null,"SJAG_02505":null,"SJAG_03167":null,"SJAG_05007":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0044281"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0006520"}],"interesting_parent_ids":["GO:0044281","GO:0006520","GO:0008150"],"is_obsolete":false,"name":"L-tryptophan biosynthetic process","references_by_uniquename":{"GO_REF:0000033":null},"secondary_identifiers":["GO:0009096"],"synonyms":[{"name":"L-tryptophan anabolism","type":"exact"},{"name":"L-tryptophan biosynthesis","type":"exact"},{"name":"aromatic amino acid family biosynthetic process, anthranilate pathway","type":"exact"},{"name":"tryptophan biosynthetic process","type":"related"},{"name":"tryptophan formation","type":"exact"},{"name":"tryptophan synthesis","type":"related"}],"termid":"GO:0000162","terms_by_termid":{"GO:0000162":null}}


id: MONDO:0008718
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.","definition_xrefs":["Orphanet:83467"],"direct_ancestors":[{"relation_name":"is_a","term_name":"muscular channelopathy","termid":"MONDO:0019119"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Morvan syndrome","secondary_identifiers":["SCTID:763803004","UMLS:C3854373","GARD:9766","EFO:1001897","MEDGEN:1632829"],"synonyms":[{"name":"Morvan's fibrillary chorea","type":"exact"},{"name":"limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome","type":"exact"}],"termid":"MONDO:0008718","xrefs":{"Monarch":{"xref_id":"0008718"}}}


id: FYPO:0005053
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 RITS complex assembly is abnormal.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal ribonucleoprotein complex assembly","termid":"FYPO:0003628"}],"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:0005447"},{"rel_name":"is_a","termid":"FYPO:0001320"}],"interesting_parent_ids":["FYPO:0000002","FYPO:0001985","FYPO:0005447","FYPO:0001320"],"is_obsolete":false,"name":"abnormal RITS complex assembly","synonyms":[{"name":"abnormal RITS complex assembly during mitotic cell cycle","type":"related"},{"name":"abnormal RITS complex assembly during vegetative growth","type":"exact"}],"termid":"FYPO:0005053"}


id: PBO:0027685
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-inviable_after_spore_germination,_single_or_double_cell_division,_branched,_curved,_elongated_cell","termid":"PBO:0027685"}


id: GO:0033823
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: UDP-glucose + 5-(D-galactosyloxy)-L-lysine-procollagen = UDP + 1,2-D-glucosyl-5-D-(galactosyloxy)-L-lysine-procollagen.","definition_xrefs":["EC:2.4.1.66"],"direct_ancestors":[{"relation_name":"is_a","term_name":"glucosyltransferase activity","termid":"GO:0046527"},{"relation_name":"is_a","term_name":"catalytic activity, acting on a protein","termid":"GO:0140096"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0140096"},{"rel_name":"is_a","termid":"GO:0016740"},{"rel_name":"is_a","termid":"GO:0016757"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0140096","GO:0016740","GO:0016757","GO:0003824","GO:0003674"],"is_obsolete":false,"name":"procollagen glucosyltransferase activity","secondary_identifiers":["RHEA:12576","MetaCyc:PROCOLLAGEN-GLUCOSYLTRANSFERASE-RXN","Reactome:R-HSA-1981157"],"synonyms":[{"name":"UDP-glucose-collagenglucosyltransferase activity","type":"related"},{"name":"UDP-glucose:5-(D-galactosyloxy)-L-lysine-procollagen D-glucosyltransferase activity","type":"related"},{"name":"UDPglucose:5-(D-galactosyloxy)-L-lysine-procollagen D-glucosyltransferase activity","type":"related"},{"name":"collagen glucosyltransferase activity","type":"related"},{"name":"collagen hydroxylysyl glucosyltransferase activity","type":"related"},{"name":"galactosylhydroxylysine glucosyltransferase activity","type":"related"},{"name":"galactosylhydroxylysine-glucosyltransferase activity","type":"related"},{"name":"galactosylhydroxylysyl glucosyltransferase activity","type":"related"},{"name":"uridine diphosphoglucose-collagen glucosyltransferase activity","type":"related"}],"termid":"GO:0033823"}


id: PBO:0083478
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Dubious open reading frame; unlikely to encode a functional protein, based on available experimental and comparative sequence data; partially overlaps the verified gene SUE1/YPR151C","termid":"PBO:0083478"}


id: PBO:0117182
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"DENND1A antisense RNA 1","termid":"PBO:0117182"}


id: PBO:0084497
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Meiosis-specific protein of unknown function; required for spore wall formation during sporulation and for timely prospore membrane closure along with SPS1; required with Sps1p for phosphorylation and turnover of Ssp1p; dispensable for both nuclear divisions during meiosis","termid":"PBO:0084497"}


id: PBO:0050252
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"high mobility group nucleosomal binding domain 2 pseudogene 30","termid":"PBO:0050252"}


id: PBO:0086264
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Protein that regulates ubiquitination of Rsp5p; has a WW domain consensus motif of PPPSY (residues 131-135) that mediates binding of Rsp5p to Ubp2p; contains an UBA domain; relative distribution to the nucleus increases upon DNA replication stress","termid":"PBO:0086264"}


id: GO:1990504
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The secretion of molecules (e.g. neuropeptides, insulin-related peptides or neuromodulators such as serotonin and dopamine) contained within a membrane-bounced dense core granule by fusion of the granule with the plasma membrane of a cell in response to increased cytosolic calcium levels.","definition_xrefs":["GOC:kmv","PMID:24653208","PMID:17553987"],"direct_ancestors":[{"relation_name":"is_a","term_name":"calcium-ion regulated exocytosis","termid":"GO:0017156"},{"relation_name":"is_a","term_name":"dense core granule localization","termid":"GO:0032253"},{"relation_name":"is_a","term_name":"establishment of vesicle localization","termid":"GO:0051650"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0051179"},{"rel_name":"is_a","termid":"GO:0006810"},{"rel_name":"is_a","termid":"GO:0016192"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0016192","GO:0051179","GO:0006810","GO:0008150"],"is_obsolete":false,"name":"dense core granule exocytosis","synonyms":[{"name":"dense core vesicle exocytosis","type":"exact"}],"termid":"GO:1990504"}


id: MONDO:0000808
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete hepatoid adenocarcinoma (obsolete MONDO:0000808)","termid":"MONDO:0000808","xrefs":{"Monarch":{"xref_id":"0000808"}}}


id: PBO:0083095
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"DNA damage-dependent checkpoint protein; required for cell-cycle arrest in G1/S, intra-S, and G2/M, plays a role in postreplication repair (PRR) pathway; transmits checkpoint signal by activating Rad53p and Chk1p; protects double-strand breaks from premature resection; multiple cyclin dependent kinase consensus sites and the C-terminal BRCT domain contribute to DNA damage checkpoint activation; Rad9p Chk1 Activating Domain (CAD) is phosphorylated at multiple sites by Cdc28p/Clb2p","termid":"PBO:0083095"}


id: PATO:0000728
data:
  {"annotation_feature_type":"gene","cv_name":"quality","gene_count":0,"genotype_count":0,"name":"OBSOLETE PATO:0000728 metabolic function value (obsolete PATO:0000728)","termid":"PATO:0000728"}


id: GO:0039628
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"The protein coat that surrounds the infective nucleic acid in some virus particles where the subunits (capsomeres) are arranged to form an icosahedron with T=169 symmetry. T=169 icosahedral capsid is composed of 12 pentameric and 1680 hexameric capsomeres for a total of 10140 capsid proteins.","definition_xrefs":["GOC:plm","VZ:10117"],"direct_ancestors":[{"relation_name":"is_a","term_name":"icosahedral viral capsid","termid":"GO:0019030"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005575"}],"interesting_parent_ids":["GO:0005575"],"is_obsolete":false,"name":"T=169 icosahedral viral capsid","synonyms":[{"name":"T=169 icosahedral capsid","type":"exact"}],"termid":"GO:0039628"}


id: PBO:0059929
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"MT-ND2 pseudogene 15","termid":"PBO:0059929"}


id: GO:0005643
data:
  {"annotated_genes":["SJAG_00178","SJAG_01065","SJAG_04148","SJAG_03182","SJAG_00298","SJAG_02425","SJAG_03986","SJAG_00521","SJAG_03907","SJAG_02424","SJAG_01460","SJAG_03300","SJAG_02520","SJAG_04721","SJAG_01358","SJAG_03593","SJAG_01293","SJAG_02661","SJAG_00471","SJAG_03729","SJAG_05243","SJAG_01833","SJAG_03299","SJAG_01584","SJAG_01185","SJAG_02210","SJAG_02757","SJAG_03200","SJAG_04284","SJAG_04472","SJAG_00375","SJAG_02094","SJAG_04379","SJAG_03847","SJAG_00641","SJAG_03103","SJAG_03795","SJAG_00962","SJAG_01834","SJAG_01013","SJAG_00840","SJAG_01374","SJAG_01909","SJAG_02274","SJAG_00093","SJAG_03281","SJAG_04645","SJAG_04017","SJAG_03449"],"annotation_feature_type":"gene","cv_annotations":{"cellular_component":[{"annotations":[57801,68038,69849,74188,75572,76525,78528,79422,87161,89612,90872,91721,95914,101757,103394,103452,105545,107558,117182,118893,118894,119009,119010,119011,119015,119271,119391],"is_not":false,"summary":null,"term":"GO:0005643"},{"annotations":[93781,101191,79849,76853,70651,75921],"is_not":false,"rel_names":["part_of"],"summary":null,"term":"GO:0044613"},{"annotations":[74547,75285,93782,102788],"is_not":false,"rel_names":["part_of"],"summary":null,"term":"GO:0044614"},{"annotations":[74905,76048,70329],"is_not":false,"rel_names":["part_of"],"summary":null,"term":"GO:0044611"},{"annotations":[102789],"is_not":false,"rel_names":["part_of"],"summary":null,"term":"GO:0044612"},{"annotations":[75922,115339,88783,94770,60807,114681],"is_not":false,"rel_names":["part_of"],"summary":null,"term":"GO:0044615"},{"annotations":[109651,72661,80165,73392,70155,88793,71539,72854,73857,77878],"is_not":false,"rel_names":["part_of"],"summary":null,"term":"GO:0031080"},{"annotations":[73885,119286],"is_not":false,"rel_names":["part_of"],"summary":null,"term":"GO:0070762"}]},"cv_name":"cellular_component","definition":"A protein complex providing a discrete opening in the nuclear envelope of a eukaryotic cell, where the inner and outer nuclear membranes are joined.","definition_xrefs":["ISBN:0198547684"],"direct_ancestors":[{"relation_name":"is_a","term_name":"nuclear protein-containing complex","termid":"GO:0140513"},{"relation_name":"part_of","term_name":"nuclear envelope","termid":"GO:0005635"}],"gene_count":49,"genes_by_uniquename":{"SJAG_00093":null,"SJAG_00178":null,"SJAG_00298":null,"SJAG_00375":null,"SJAG_00471":null,"SJAG_00521":null,"SJAG_00641":null,"SJAG_00840":null,"SJAG_00962":null,"SJAG_01013":null,"SJAG_01065":null,"SJAG_01185":null,"SJAG_01293":null,"SJAG_01358":null,"SJAG_01374":null,"SJAG_01460":null,"SJAG_01584":null,"SJAG_01833":null,"SJAG_01834":null,"SJAG_01909":null,"SJAG_02094":null,"SJAG_02210":null,"SJAG_02274":null,"SJAG_02424":null,"SJAG_02425":null,"SJAG_02520":null,"SJAG_02661":null,"SJAG_02757":null,"SJAG_03103":null,"SJAG_03182":null,"SJAG_03200":null,"SJAG_03281":null,"SJAG_03299":null,"SJAG_03300":null,"SJAG_03449":null,"SJAG_03593":null,"SJAG_03729":null,"SJAG_03795":null,"SJAG_03847":null,"SJAG_03907":null,"SJAG_03986":null,"SJAG_04017":null,"SJAG_04148":null,"SJAG_04284":null,"SJAG_04379":null,"SJAG_04472":null,"SJAG_04645":null,"SJAG_04721":null,"SJAG_05243":null},"genotype_count":0,"in_subsets":["cc_goslim_japonicus"],"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0032991"},{"rel_name":"is_a","termid":"GO:0005575"},{"rel_name":"part_of","termid":"GO:0005634"}],"interesting_parent_ids":["GO:0005634","GO:0005575","GO:0032991"],"is_obsolete":false,"name":"nuclear pore","references_by_uniquename":{"GO_REF:0000002":null,"GO_REF:0000033":null,"GO_REF:0000107":null,"PMID:21733045":null,"PMID:21802294":null,"PMID:24184107":null,"PMID:32109380":null,"PMID:33495454":null},"secondary_identifiers":["Wikipedia:Nuclear_pore","GO:0005644","NIF_Subcellular:sao220861693"],"synonyms":[{"name":"NPC","type":"exact"},{"name":"nuclear pore complex","type":"exact"},{"name":"nuclear pore membrane protein","type":"narrow"},{"name":"nucleopore","type":"exact"}],"termid":"GO:0005643","terms_by_termid":{"GO:0005643":null,"GO:0031080":null,"GO:0044611":null,"GO:0044612":null,"GO:0044613":null,"GO:0044614":null,"GO:0044615":null,"GO:0070762":null}}


id: PR:P87159
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- nif1 gene.","definition_xrefs":["UniProtKB:P87159","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":"mitosis inhibitor nif1 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPBC23G7.04c","synonyms":[{"name":"Spom972h-nif1","type":"exact"},{"name":"nim1-interacting factor 1 (Schizosaccharomyces pombe 972h-)","type":"exact"}],"termid":"PR:P87159"}


id: PBO:0079202
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"TSPY like 6","termid":"PBO:0079202"}


id: PBO:0079744
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"UBX domain protein 11","termid":"PBO:0079744"}


id: PBO:0062516
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"olfactory receptor family 8 subfamily K member 2 pseudogene","termid":"PBO:0062516"}


id: PBO:0044728
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"DEAD/H-box helicase 11 like 17 (pseudogene)","termid":"PBO:0044728"}


id: FYPO:0005750
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 Zeocin (phleomycin D1). Cells stop growing (and may die) at a concentration of Zeocin that allows wild type cells to grow.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"increased sensitivity to chemical during vegetative growth","termid":"FYPO:0000127"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0002683"},{"rel_name":"is_a","termid":"FYPO:0000139"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0000003"}],"interesting_parent_ids":["FYPO:0000139","FYPO:0001985","FYPO:0002683","FYPO:0005447","FYPO:0000003"],"is_obsolete":false,"name":"sensitive to Zeocin","synonyms":[{"name":"hypersensitive to Zeocin","type":"exact"},{"name":"sensitive to Zeocin during mitotic cell cycle","type":"related"},{"name":"sensitive to Zeocin during vegetative growth","type":"exact"},{"name":"sensitive to phleomycin D1","type":"exact"}],"termid":"FYPO:0005750"}


id: PBO:0058176
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 4471","termid":"PBO:0058176"}


id: SO:0000026
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","direct_ancestors":[{"relation_name":"is_a","term_name":"RNA_motif","termid":"SO:0000715"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA_junction_loop","synonyms":[{"name":"RNA junction loop","type":"exact"}],"termid":"SO:0000026"}


id: PBO:0069980
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U6 small nuclear 1275, pseudogene","termid":"PBO:0069980"}


id: MONDO:0019671
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius.","definition_xrefs":["Orphanet:93321"],"direct_ancestors":[{"relation_name":"is_a","term_name":"hemimelia","termid":"MONDO:0016240"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005497"}],"interesting_parent_ids":["MONDO:0005497"],"is_obsolete":false,"name":"radial hemimelia","secondary_identifiers":["MEDGEN:539344","SCTID:48008009","GARD:225","UMLS:C0265581","ICD9:755.59","icd11.foundation:653269137"],"synonyms":[{"name":"congenital longitudinal deficiency of the radius","type":"exact"},{"name":"radial clubhand","type":"exact"},{"name":"radial longitidinal meromelia","type":"exact"},{"name":"radial ray agenesis","type":"exact"}],"termid":"MONDO:0019671","xrefs":{"Monarch":{"xref_id":"0019671"}}}


id: MONDO:0013983
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"autosomal recessive hypohidrotic ectodermal dysplasia","termid":"MONDO:0016619"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005093"},{"rel_name":"is_a","termid":"MONDO:0006025"}],"interesting_parent_ids":["MONDO:0006025","MONDO:0005093"],"is_obsolete":false,"name":"ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive","secondary_identifiers":["DOID:0111654","MEDGEN:761671","GARD:15885","OMIM:614941","UMLS:C3539920"],"synonyms":[{"name":"ECTD11B","type":"related"},{"name":"ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive","type":"exact"},{"name":"ectodermal dysplasia, anhidrotic","type":"related"},{"name":"ectodermal dysplasia, hypohidrotic","type":"related"}],"termid":"MONDO:0013983","xrefs":{"Monarch":{"xref_id":"0013983"}}}


