# terms

id: PBO:0060185
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"mucin 5AC, oligomeric mucus/gel-forming","termid":"PBO:0060185"}


id: GO:0070438
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"OBSOLETE. A protein complex that contains the mTOR (mammalian target of rapamycin) serine/threonine kinase, the peptidyl-prolyl cis-trans isomerase FKBP12 (FKBP1A) and rapamycin (sirolimus).","definition_xrefs":["PMID:20005306","GOC:sl","PMID:7822316"],"gene_count":0,"genotype_count":0,"name":"obsolete mTOR-FKBP12-rapamycin complex (obsolete GO:0070438)","synonyms":[{"name":"Fkbp1a-Frap1 complex","type":"narrow"},{"name":"mTOR-FKBP12-rapamycin complex","type":"exact"}],"termid":"GO:0070438"}


id: PR:Q9P7Y4
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A mediator of RNA polymerase II transcription subunit 14 that is encoded in the genome of Schizosaccharomyces pombe 972h-.","definition_xrefs":["PANTHER:PTHR12809:SF2","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":"mediator of RNA polymerase II transcription subunit 14 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPBC1A4.10c","secondary_identifiers":["UniProtKB:Q9P7Y4"],"synonyms":[{"name":"SPBC1A4.10c","type":"related"},{"name":"Spom972h-MED14","type":"exact"},{"name":"mediator complex subunit 14 (Schizosaccharomyces pombe 972h-)","type":"exact"},{"name":"mediator of RNA polymerase II complex subunit pmc1 (Schizosaccharomyces pombe 972h-)","type":"exact"},{"name":"pmc1","type":"related"}],"termid":"PR:Q9P7Y4"}


id: GO:1990098
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"A protein-DNA complex containing at least one DNA helicase and one primase. Can also contain associated proteins. The helicase component continues to unwind the double-stranded DNA (dsDNA) and the primase component synthesizes a RNA primer during initiation or restart of replication.","definition_xrefs":["PMID:21856207","GOC:bhm"],"direct_ancestors":[{"relation_name":"is_a","term_name":"primosome complex","termid":"GO:1990077"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"part_of","termid":"GO:0005694"},{"rel_name":"is_a","termid":"GO:0005575"},{"rel_name":"is_a","termid":"GO:0032991"},{"rel_name":"part_of","termid":"GO:0032991"}],"interesting_parent_ids":["GO:0032991","GO:0005694","GO:0005575"],"is_obsolete":false,"name":"core primosome complex","synonyms":[{"name":"core primosome","type":"exact"}],"termid":"GO:1990098"}


id: GO:0170004
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Enables the transfer of lipoate from one side of a membrane to the other.","definition_xrefs":["PMID:25971966","PMID:20980265"],"direct_ancestors":[{"relation_name":"is_a","term_name":"transmembrane transporter activity","termid":"GO:0022857"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0005215"},{"rel_name":"is_a","termid":"GO:0022857"}],"interesting_parent_ids":["GO:0003674","GO:0005215","GO:0022857"],"is_obsolete":false,"name":"lipoate transmembrane transporter activity","termid":"GO:0170004"}


id: PBO:0036019
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-increased_histone_acetylation_during_vegetative_growth","termid":"PBO:0036019"}


id: PBO:0064948
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"PML-RARA regulated adaptor molecule 1","termid":"PBO:0064948"}


id: GO:0018410
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The alteration of the C-terminal amino acid residue in a protein.","definition_xrefs":["GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"post-translational protein modification","termid":"GO:0043687"}],"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":"C-terminal protein amino acid modification","synonyms":[{"name":"peptide or protein carboxyl-terminal blocking","type":"related"},{"name":"peptide/protein carboxyl-terminal blocking","type":"related"}],"termid":"GO:0018410"}


id: FYPO:0006669
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cellular process phenotype in which one cell mates with two partners, leading to the fusion of three cells. The resulting zygote can then undergo sporulation to form an ascus containing more than four spores.","definition_xrefs":["PMID:30089908","PomBase:mah"],"direct_ancestors":[{"relation_name":"has_output","term_name":"abnormal sporulation resulting in formation of ascus with more than four spores","termid":"FYPO:0003263"},{"relation_name":"is_a","term_name":"abnormal mating","termid":"FYPO:0000031"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0000301"},{"rel_name":"is_a","termid":"FYPO:0005447"}],"interesting_parent_ids":["FYPO:0001985","FYPO:0000301","FYPO:0005447"],"is_obsolete":false,"name":"abnormal mating between three cells","synonyms":[{"name":"abnormal conjugation between three cells","type":"exact"},{"name":"abnormal mating among three cells","type":"exact"}],"termid":"FYPO:0006669"}


id: MONDO:0015150
data:
  {"annotated_genes":["SJAG_04110","SJAG_04537","SJAG_04123","SJAG_04506","SJAG_02306","SJAG_00660","SJAG_00199","SJAG_03866","SJAG_04292","SJAG_03320","SJAG_00773","SJAG_04145","SJAG_01854","SJAG_04757","SJAG_03457","SJAG_01537","SJAG_00308"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[86978,86979],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0014702"},{"annotations":[88995,88994],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0014975"},{"annotations":[89267],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0030669"},{"annotations":[87414],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0014567"},{"annotations":[87629],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0009748"},{"annotations":[87154],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0010043"},{"annotations":[88292],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0012787"},{"annotations":[87263,87262,87264],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0014018"},{"annotations":[87261],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0014020"},{"annotations":[87621],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0014305"},{"annotations":[87091],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0014644"},{"annotations":[88471,88472],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0011006"},{"annotations":[87075],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0014679"},{"annotations":[88731],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0012651"},{"annotations":[88021],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0030482"},{"annotations":[88067],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0030512"}]},"cv_name":"mondo","definition":"A hereditary spastic paraplegia that is part of a larger syndrome.","definition_xrefs":["MONDO:patterns/syndromic"],"direct_ancestors":[{"relation_name":"is_a","term_name":"syndromic disease","termid":"MONDO:0002254"},{"relation_name":"is_a","term_name":"hereditary spastic paraplegia","termid":"MONDO:0019064"}],"gene_count":17,"genes_by_uniquename":{"SJAG_00199":null,"SJAG_00308":null,"SJAG_00660":null,"SJAG_00773":null,"SJAG_01537":null,"SJAG_01854":null,"SJAG_02306":null,"SJAG_03320":null,"SJAG_03457":null,"SJAG_03866":null,"SJAG_04110":null,"SJAG_04123":null,"SJAG_04145":null,"SJAG_04292":null,"SJAG_04506":null,"SJAG_04537":null,"SJAG_04757":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005559"}],"interesting_parent_ids":["MONDO:0005559"],"is_obsolete":false,"name":"complex hereditary spastic paraplegia","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["SCTID:230261006","UMLS:C0393556","NANDO:1200054","GARD:19823","MEDGEN:581446","Orphanet:102013"],"synonyms":[{"name":"Complex HSP","type":"exact"},{"name":"Complex SPG","type":"exact"},{"name":"Complex familial spastic paraplegia","type":"exact"},{"name":"complicated HSP","type":"exact"},{"name":"complicated SPG","type":"exact"},{"name":"complicated familial spastic paraplegia","type":"exact"},{"name":"complicated hereditary spastic paraplegia","type":"exact"},{"name":"syndrome associated with hereditary spastic paraplegia","type":"exact"},{"name":"syndromic hereditary spastic paraplegia","type":"exact"}],"termid":"MONDO:0015150","terms_by_termid":{"MONDO:0009748":null,"MONDO:0010043":null,"MONDO:0011006":null,"MONDO:0012651":null,"MONDO:0012787":null,"MONDO:0014018":null,"MONDO:0014020":null,"MONDO:0014305":null,"MONDO:0014567":null,"MONDO:0014644":null,"MONDO:0014679":null,"MONDO:0014702":null,"MONDO:0014975":null,"MONDO:0030482":null,"MONDO:0030512":null,"MONDO:0030669":null},"xrefs":{"Monarch":{"xref_id":"0015150"}}}


id: FYPO:0003615
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cellular process phenotype in which generation of double-strand breaks at defined hotspots throughout the genome during meiosis I is decreased.","definition_xrefs":["PomBase:mah","GO:0042138"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal meiotic recombination","termid":"FYPO:0000008"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0000631"},{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0000293"}],"interesting_parent_ids":["FYPO:0001985","FYPO:0000293","FYPO:0000631","FYPO:0005447","FYPO:0000002"],"is_obsolete":false,"name":"decreased meiotic DNA double-strand break formation","synonyms":[{"name":"reduced meiotic DNA double-strand break formation","type":"exact"}],"termid":"FYPO:0003615"}


id: PBO:0084299
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Invertase; sucrose hydrolyzing enzyme; seven closely related but non-identical invertase genes have been described in yeast (SUC1-5, 7, 8) but only SUC2 is in the reference strain (S288C)","termid":"PBO:0084299"}


id: FYPO:0001459
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"OBSOLETE. A cellular process phenotype observed in the vegetative growth phase of the life cycle in which the level of transcription from a calcineurin-dependent response element (CDRE)-containing promoter is higher than normal in the absence of a calcium ion stimulus.","definition_xrefs":["PomBase:mah","PMID:21811607"],"gene_count":0,"genotype_count":0,"name":"obsolete increased basal transcription from CDRE promoter (obsolete FYPO:0001459)","synonyms":[{"name":"increased basal transcription from CDRE promoter during mitotic cell cycle","type":"related"},{"name":"increased basal transcription from CDRE promoter during vegetative growth","type":"exact"},{"name":"increased transcription from CRDE promoter in the absence of calcium","type":"exact"}],"termid":"FYPO:0001459"}


id: GO:0005765
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.","definition_xrefs":["GOC:ai"],"direct_ancestors":[{"relation_name":"is_a","term_name":"lytic vacuole membrane","termid":"GO:0098852"},{"relation_name":"part_of","term_name":"lysosome","termid":"GO:0005764"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"part_of","termid":"GO:0005773"},{"rel_name":"is_a","termid":"GO:0005575"},{"rel_name":"part_of","termid":"GO:0005737"}],"interesting_parent_ids":["GO:0005773","GO:0005737","GO:0005575"],"is_obsolete":false,"name":"lysosomal membrane","synonyms":[{"name":"lysosome membrane","type":"exact"}],"termid":"GO:0005765"}


id: GO:0004301
data:
  {"annotated_genes":["SJAG_01088"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[77746],"is_not":false,"summary":null,"term":"GO:0004301"}]},"cv_name":"molecular_function","definition":"Catalysis of the reaction: an epoxide + H2O = an ethanediol.","definition_xrefs":["EC:3.3.2.10"],"direct_ancestors":[{"relation_name":"is_a","term_name":"ether hydrolase activity","termid":"GO:0016803"}],"gene_count":1,"genes_by_uniquename":{"SJAG_01088":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0016787"}],"interesting_parent_ids":["GO:0003674","GO:0016787","GO:0003824"],"is_obsolete":false,"name":"epoxide hydrolase activity","references_by_uniquename":{"GO_REF:0000033":null},"secondary_identifiers":["Reactome:R-HSA-9018877","Reactome:R-HSA-9915986","RHEA:19037","Reactome:R-HSA-9026000","Reactome:R-HSA-9024890","Reactome:R-HSA-9026008","Reactome:R-HSA-9020253","Reactome:R-HSA-9915994","Reactome:R-HSA-9020270","Reactome:R-HSA-9024973","Reactome:R-HSA-9025998","Reactome:R-HSA-9020257","Reactome:R-HSA-9018862","Reactome:R-HSA-9024993","Reactome:R-HSA-9020258","Reactome:R-HSA-2161961","Reactome:R-HSA-9020252","MetaCyc:3.3.2.10-RXN","Reactome:R-HSA-9915968"],"synonyms":[{"name":"arene-oxide hydratase activity","type":"broad"},{"name":"aryl epoxide hydrase activity","type":"broad"},{"name":"cytosolic epoxide hydrolase activity","type":"related"},{"name":"epoxide hydrase activity","type":"broad"},{"name":"epoxide hydratase activity","type":"broad"},{"name":"sEH","type":"related"},{"name":"soluble epoxide hydrolase activity","type":"narrow"},{"name":"trans-stilbene oxide hydrolase activity","type":"related"}],"termid":"GO:0004301","terms_by_termid":{"GO:0004301":null}}


id: MONDO:0011158
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"autoimmune lymphoproliferative syndrome","termid":"MONDO:0017979"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005046"}],"interesting_parent_ids":["MONDO:0005046"],"is_obsolete":false,"name":"autoimmune lymphoproliferative syndrome type 1","secondary_identifiers":["OMIM:601859","SCTID:702444009","UMLS:C1328840","ICD9:279.41","MEDGEN:231300"],"synonyms":[{"name":"ALPS","type":"related"},{"name":"Canale-Smith syndrome","type":"related"},{"name":"autoimmune lymphoproliferative syndrome","type":"related"},{"name":"autoimmune lymphoproliferative syndrome type 1","type":"exact"},{"name":"autoimmune lymphoproliferative syndrome, type 1A","type":"narrow"},{"name":"autoimmune lymphoproliferative syndrome, type 1B","type":"narrow"},{"name":"autoimmune lymphoproliferative syndrome, type I, autosomal dominant","type":"related"},{"name":"autoimmune lymphoproliferative syndrome, type I, autosomal recessive","type":"related"},{"name":"autoimmune lymphoproliferative syndrome, type IA","type":"exact"},{"name":"autoimmune lymphoproliferative syndrome, type IB","type":"exact"}],"termid":"MONDO:0011158","xrefs":{"Monarch":{"xref_id":"0011158"}}}


id: MONDO:0002698
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A testicular mixed germ cell-sex cord-stromal tumor. It is usually associated with mixed gonadal dysgenesis and ambiguous genitalia. It is characterized by the presence of nests of large neoplastic germ cells and immature cells that resemble Sertoli cells.","definition_xrefs":["NCIT:C39911"],"direct_ancestors":[{"relation_name":"is_a","term_name":"testicular sex cord-stromal neoplasm","termid":"MONDO:0003125"},{"relation_name":"is_a","term_name":"testicular cancer","termid":"MONDO:0005447"},{"relation_name":"is_a","term_name":"gonadoblastoma","termid":"MONDO:0010768"}],"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":"testicular gonadoblastoma","secondary_identifiers":["MEDGEN:272839","HP:0000030","DOID:3579","UMLS:C1515283"],"synonyms":[{"name":"gonadoblastoma of testis","type":"exact"},{"name":"testicular gonadoblastoma","type":"exact"},{"name":"testicular gonadoblastoma (disease)","type":"exact"},{"name":"testis gonadoblastoma","type":"exact"}],"termid":"MONDO:0002698","xrefs":{"Monarch":{"xref_id":"0002698"}}}


id: PBO:0063443
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"phosphodiesterase 6G","termid":"PBO:0063443"}


id: FYPO:0006285
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 duration of localization of a protein to the telomere of a chromosome is longer than normal during anaphase B of mitosis.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"increased duration of protein localization to telomere","termid":"FYPO:0005649"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0000138"}],"interesting_parent_ids":["FYPO:0001320","FYPO:0000002","FYPO:0000138","FYPO:0005447","FYPO:0001985"],"is_obsolete":false,"name":"increased duration of protein localization to telomere during mitotic anaphase B","synonyms":[{"name":"increased duration of protein localisation to telomere during mitotic anaphase B","type":"exact"},{"name":"increased duration of protein localization to chromosome, telomeric region during mitotic anaphase B","type":"exact"},{"name":"increased duration of protein localization to telomere during anaphase B during vegetative growth","type":"exact"},{"name":"increased duration of protein localization to telomere during anaphase B of mitotic cell cycle","type":"exact"},{"name":"increased duration of protein localization to telomeric region during mitotic anaphase B","type":"exact"},{"name":"prolonged protein localization to telomere during mitotic anaphase B","type":"exact"}],"termid":"FYPO:0006285"}


id: PBO:0068436
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U1 small nuclear 6, pseudogene","termid":"PBO:0068436"}


id: PBO:0116634
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ARF GTPase 6","termid":"PBO:0116634"}


id: MONDO:0100569
data:
  {"annotated_genes":["SJAG_01378"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[87083],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"MONDO:0014690"}]},"cv_name":"mondo","definition":"A spectrum of conditions, including dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome, hereditary aplastic anemia, and pulmonary fibrosis, typically characterized by shortened telomeres due to a pathogenic variant(s) in ACD that results in impaired telomere maintenance.","direct_ancestors":[{"relation_name":"is_a","term_name":"ACD-related telomere biology disorder","termid":"MONDO:0800469"}],"gene_count":1,"genes_by_uniquename":{"SJAG_01378":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0019303"}],"interesting_parent_ids":["MONDO:0019303"],"is_obsolete":false,"name":"ACD-related short telomere syndrome","references_by_uniquename":{"PB_REF:0000006":null},"termid":"MONDO:0100569","terms_by_termid":{"MONDO:0014690":null},"xrefs":{"Monarch":{"xref_id":"0100569"}}}


id: GO:0032160
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"Arrays of septin filaments, or bars, found in a series of filamentous structures. Such structures have been observed in the prospore membrane during spore formation in S. cerevisiae and in the chlamydospore membrane during chlamydospore formation in C. albicans.","definition_xrefs":["GOC:krc","PMID:16151244"],"direct_ancestors":[{"relation_name":"is_a","term_name":"septin cytoskeleton","termid":"GO:0032156"},{"relation_name":"part_of","term_name":"cytoskeleton","termid":"GO:0005856"}],"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":"septin filament array","synonyms":[{"name":"septin bar","type":"related"}],"termid":"GO:0032160"}


id: PBO:0066537
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"regulator of G protein signaling 3","termid":"PBO:0066537"}


id: MONDO:0014952
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"syndromic intellectual disability","termid":"MONDO:0000508"},{"relation_name":"is_a","term_name":"syndromic disease","termid":"MONDO:0002254"},{"relation_name":"is_a","term_name":"hereditary disease","termid":"MONDO:0003847"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"intellectual disability-epilepsy-extrapyramidal syndrome","secondary_identifiers":["MEDGEN:934650","OMIM:617171","UMLS:C4310683","GARD:13474","Orphanet:468620"],"synonyms":[{"name":"DYSEIDD","type":"related"},{"name":"dyskinesia, seizures, and intellectual developmental disorder","type":"related"},{"name":"neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures","type":"exact"}],"termid":"MONDO:0014952","xrefs":{"Monarch":{"xref_id":"0014952"}}}


id: PBO:0082295
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Arginyl-tRNA-protein transferase; catalyzes post-translational conjugation of arginine to the amino termini of acceptor proteins which are then subject to degradation via the N-end rule pathway; may have a role in regulating stress response","termid":"PBO:0082295"}


id: PATO:0001949
data:
  {"annotation_feature_type":"gene","cv_name":"quality","definition":"A shape quality inhering in a bearer by virtue of the bearer's terminating abruptly in a little point.","definition_xrefs":["ISBN:0881923214"],"direct_ancestors":[{"relation_name":"is_a","term_name":"sharp","termid":"PATO:0001419"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"pointleted","termid":"PATO:0001949"}


id: GO:1902880
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. Any process that activates or increases the frequency, rate or extent of BMP signaling pathway involved in spinal cord association neuron specification.","definition_xrefs":["GO_REF:0000058","GOC:mr","GOC:TermGenie","PMID:21730158"],"gene_count":0,"genotype_count":0,"name":"obsolete positive regulation of BMP signaling pathway involved in spinal cord association neuron specification (obsolete GO:1902880)","synonyms":[{"name":"activation of BMP signaling pathway involved in spinal cord association neuron specification","type":"narrow"},{"name":"activation of BMP signalling pathway involved in spinal cord association neuron specification","type":"narrow"},{"name":"activation of bone morphogenetic protein signaling pathway involved in spinal cord association neuron specification","type":"narrow"},{"name":"activation of bone morphogenetic protein signalling pathway involved in spinal cord association neuron specification","type":"narrow"},{"name":"positive regulation of BMP signalling pathway involved in spinal cord association neuron specification","type":"exact"},{"name":"positive regulation of bone morphogenetic protein signaling pathway involved in spinal cord association neuron specification","type":"exact"},{"name":"positive regulation of bone morphogenetic protein signalling pathway involved in spinal cord association neuron specification","type":"exact"},{"name":"up regulation of BMP signaling pathway involved in spinal cord association neuron specification","type":"exact"},{"name":"up regulation of BMP signalling pathway involved in spinal cord association neuron specification","type":"exact"},{"name":"up regulation of bone morphogenetic protein signaling pathway involved in spinal cord association neuron specification","type":"exact"},{"name":"up regulation of bone morphogenetic protein signalling pathway involved in spinal cord association neuron specification","type":"exact"},{"name":"up-regulation of BMP signaling pathway involved in spinal cord association neuron specification","type":"exact"},{"name":"up-regulation of BMP signalling pathway involved in spinal cord association neuron specification","type":"exact"},{"name":"up-regulation of bone morphogenetic protein signaling pathway involved in spinal cord association neuron specification","type":"exact"},{"name":"up-regulation of bone morphogenetic protein signalling pathway involved in spinal cord association neuron specification","type":"exact"},{"name":"upregulation of BMP signaling pathway involved in spinal cord association neuron specification","type":"exact"},{"name":"upregulation of BMP signalling pathway involved in spinal cord association neuron specification","type":"exact"},{"name":"upregulation of bone morphogenetic protein signaling pathway involved in spinal cord association neuron specification","type":"exact"},{"name":"upregulation of bone morphogenetic protein signalling pathway involved in spinal cord association neuron specification","type":"exact"}],"termid":"GO:1902880"}


id: GO:0007311
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Polarization of the oocyte along the dorsal-ventral axis, by a gene product encoded by cells of the germ line. An example of this is found in Drosophila melanogaster.","definition_xrefs":["GOC:dph","ISBN:0879694238","GOC:mtg_sensu","GOC:tb"],"direct_ancestors":[{"relation_name":"is_a","term_name":"oocyte dorsal/ventral axis specification","termid":"GO:0007310"}],"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 specification of dorsal/ventral axis, oocyte, germ-line encoded","secondary_identifiers":["GO:0048124"],"synonyms":[{"name":"maternal determination of dorsal/ventral axis, oocyte, germ-line encoded","type":"exact"},{"name":"maternal specification of dorsal-ventral axis, oocyte, germ-line encoded","type":"exact"},{"name":"maternal specification of dorsoventral axis, oocyte, germ-line encoded","type":"exact"}],"termid":"GO:0007311"}


id: GO:0099553
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Cell-cell signaling between presynapse and postsynapse, via the release and reception of endocannabinoid ligands, that modulates the synaptic transmission properties of the synapse.","definition_xrefs":["PMID:21531987","GOC:dos"],"direct_ancestors":[{"relation_name":"is_a","term_name":"trans-synaptic signaling by endocannabinoid","termid":"GO:0099542"},{"relation_name":"is_a","term_name":"trans-synaptic signaling by lipid, modulating synaptic transmission","termid":"GO:0099552"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0023052"},{"rel_name":"regulates","termid":"GO:0023052"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150","GO:0023052"],"is_obsolete":false,"name":"trans-synaptic signaling by endocannabinoid, modulating synaptic transmission","termid":"GO:0099553"}


id: GO:0033930
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the endohydrolysis of (1->4)-beta-D-galactosidic linkages in keratan sulfate.","definition_xrefs":["EC:3.2.1.103"],"direct_ancestors":[{"relation_name":"is_a","term_name":"galactosidase activity","termid":"GO:0015925"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0016798"},{"rel_name":"is_a","termid":"GO:0016787"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0003824","GO:0016798","GO:0016787","GO:0003674"],"is_obsolete":false,"name":"keratan-sulfate endo-1,4-beta-galactosidase activity","secondary_identifiers":["MetaCyc:3.2.1.103-RXN"],"synonyms":[{"name":"endo-beta-galactosidase activity","type":"broad"},{"name":"keratan sulfate endogalactosidase activity","type":"related"},{"name":"keratan-sulfate 1,4-beta-D-galactanohydrolase activity","type":"related"},{"name":"keratanase activity","type":"related"}],"termid":"GO:0033930"}


id: PBO:0043502
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"CNTNAP2 antisense RNA 1","termid":"PBO:0043502"}


id: SO:0001510
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"A change in chromosomes that occurs between two separate chromosomes.","direct_ancestors":[{"relation_name":"is_a","term_name":"chromosomal_variation_attribute","termid":"SO:0001509"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"intrachromosomal","termid":"SO:0001510"}


id: GO:0015525
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"OBSOLETE. (Was not defined before being made obsolete).","definition_xrefs":["GOC:ai"],"gene_count":0,"genotype_count":0,"name":"obsolete carbonyl cyanide m-chlorophenylhydrazone/nalidixic acid/organomercurials:hydrogen antiporter activity (obsolete GO:0015525)","synonyms":[{"name":"carbonyl cyanide m-chlorophenylhydrazone/nalidixic acid/organomercurials:hydrogen antiporter activity","type":"exact"},{"name":"carbonyl cyanide m-chlorophenylhydrazone/nalidixic acid/organomercurials:proton antiporter activity","type":"exact"}],"termid":"GO:0015525"}


id: PBO:0062006
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"olfactory receptor family 2 subfamily I member 1 pseudogene","termid":"PBO:0062006"}


id: GO:0050818
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of coagulation, the process in which a fluid solution, or part of it, changes into a solid or semisolid mass.","definition_xrefs":["GOC:ai"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of multicellular organismal process","termid":"GO:0051239"},{"relation_name":"regulates","term_name":"coagulation","termid":"GO:0050817"}],"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 coagulation","synonyms":[{"name":"regulation of clotting","type":"exact"}],"termid":"GO:0050818"}


id: MONDO:0033850
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"autosomal recessive disease","termid":"MONDO:0006025"},{"relation_name":"is_a","term_name":"disorder of copper metabolism","termid":"MONDO:0017762"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0006025"},{"rel_name":"is_a","termid":"MONDO:0005066"}],"interesting_parent_ids":["MONDO:0005066","MONDO:0006025"],"is_obsolete":false,"name":"autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect","secondary_identifiers":["UMLS:C5569051","GARD:22143","MEDGEN:1800474","Orphanet:521411"],"termid":"MONDO:0033850","xrefs":{"Monarch":{"xref_id":"0033850"}}}


id: PBO:0086389
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Putative channel-like protein; similar to Fps1p; mediates passive diffusion of glycerol in the presence of ethanol","termid":"PBO:0086389"}


id: MONDO:0012648
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).","definition_xrefs":["Orphanet:79159"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"obsolete syndrome associated with dilated cardiomyopathy (obsolete MONDO:0016337)","termid":"MONDO:0016337"},{"relation_name":"is_a","term_name":"classic organic aciduria","termid":"MONDO:0019215"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005066"},{"rel_name":"is_a","termid":"MONDO:0004736"}],"interesting_parent_ids":["MONDO:0005066","MONDO:0004736"],"is_obsolete":false,"name":"isobutyryl-CoA dehydrogenase deficiency","secondary_identifiers":["NCIT:C129975","OMIM:611283","MESH:C535541","UMLS:C1969809","GARD:10223","MEDGEN:370754"],"synonyms":[{"name":"Acad8 deficiency","type":"related"},{"name":"IBD deficiency","type":"related"},{"name":"acyl-Coa dehydrogenase family, member 8, deficiency of","type":"related"},{"name":"acyl-CoaA dehydrogenase family, member 8, deficiency of","type":"related"},{"name":"isobutyric aciduria","type":"exact"},{"name":"isobutyryl-CoA dehydrogenase deficiency","type":"exact"}],"termid":"MONDO:0012648","xrefs":{"Monarch":{"xref_id":"0012648"}}}


id: GO:0042023
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Regulated re-replication of DNA within a single cell cycle, resulting in an increased cell ploidy. An example of this process occurs in the synthesis of Drosophila salivary gland cell polytene chromosomes.","definition_xrefs":["GOC:vw","GOC:jl"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cell cycle DNA replication","termid":"GO:0044786"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0006259"},{"rel_name":"part_of","termid":"GO:0007049"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0006260"}],"interesting_parent_ids":["GO:0007049","GO:0006259","GO:0008150","GO:0006260"],"is_obsolete":false,"name":"DNA endoreduplication","synonyms":[{"name":"DNA endoreplication","type":"exact"},{"name":"DNA re-duplication","type":"exact"}],"termid":"GO:0042023"}


id: PBO:0030763
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_response_to_zinc_ion","termid":"PBO:0030763"}


id: PBO:0051304
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"immunoglobulin kappa variable 1/OR-2 (pseudogene)","termid":"PBO:0051304"}


id: GO:0007093
data:
  {"annotated_genes":["SJAG_04943","SJAG_03126","SJAG_01082","SJAG_03529","SJAG_04259","SJAG_00486","SJAG_01677","SJAG_01429","SJAG_03160","SJAG_01837","SJAG_00071","SJAG_02336","SJAG_01084","SJAG_01708","SJAG_00623","SJAG_03695","SJAG_04999","SJAG_01679","SJAG_00883","SJAG_01146","SJAG_04287","SJAG_01873","SJAG_03927","SJAG_01044","SJAG_01605","SJAG_03602","SJAG_04280","SJAG_00364","SJAG_02771","SJAG_04332","SJAG_01205","SJAG_04671","SJAG_00169","SJAG_04884","SJAG_02451","SJAG_01076","SJAG_02169","SJAG_00429","SJAG_03353","SJAG_03720","SJAG_03048","SJAG_01297","SJAG_00327","SJAG_04597","SJAG_00640","SJAG_02098","SJAG_02392","SJAG_03026","SJAG_02026","SJAG_01010","SJAG_01330","SJAG_02563","SJAG_01680","SJAG_05373","SJAG_01401","SJAG_03681","SJAG_04699","SJAG_04140","SJAG_02074","SJAG_03073","SJAG_01855","SJAG_01210","SJAG_02576","SJAG_00082","SJAG_03942","SJAG_04126","SJAG_03898","SJAG_02266"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[110292,105908,116329,101602,115842,114016,92730,109264,117961],"is_not":false,"rel_names":["negatively_regulates","regulates"],"summary":null,"term":"GO:1902426"},{"annotations":[92005,102558,118064,96418,103460],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0044878"},{"annotations":[80031,116527,118065,118292,82079,95569,113252],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0044773"},{"annotations":[108650,101369,114091,80874,95974,119343,74283,76854,102559,111361,101203,81464,118864,119170,118120,93440,73072],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0033314"},{"annotations":[90950,104375,103639,117963,110930],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0031568"},{"annotations":[93317,111715],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0031571"},{"annotations":[118066,97861,100440,96551],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0031569"},{"annotations":[61767,108651,119083,77206,113784,101371,61060,81337,74285,91129,62591,93441,103073,111362,68050],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0007095"},{"annotations":[96552,91130,114092,102879,98025,118122,108652,91176,80876,109700,113785,75859,92453,93442,81336,104376,76293,101372,81249],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0031573"},{"annotations":[108347,116559,103817,101444,111953,117619],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0007094"},{"annotations":[80870],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0031578"},{"annotations":[96208],"is_not":false,"rel_names":["negatively_regulates","regulates"],"summary":null,"term":"GO:0140499"},{"annotations":[118737],"is_not":false,"rel_names":["regulates","positively_regulates"],"summary":null,"term":"GO:0090267"}]},"cv_name":"biological_process","definition":"A signaling process that ensures accurate chromosome replication and segregation by preventing progression through a mitotic cell cycle until conditions are suitable for the cell to proceed to the next stage.","definition_xrefs":["GOC:mtg_cell_cycle"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cell cycle checkpoint signaling","termid":"GO:0000075"},{"relation_name":"is_a","term_name":"negative regulation of mitotic cell cycle","termid":"GO:0045930"},{"relation_name":"is_a","term_name":"mitotic cell cycle 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cell cycle checkpoint signaling","references_by_uniquename":{"GO_REF:0000033":null,"GO_REF:0000107":null,"GO_REF:0000117":null},"secondary_identifiers":["GO:0072474","GO:0072456","GO:0031575","GO:0072413","GO:0071780"],"synonyms":[{"name":"mitotic cell cycle checkpoint","type":"exact"},{"name":"mitotic checkpoint","type":"related"},{"name":"signal transduction involved in mitotic G2/M transition checkpoint","type":"narrow"},{"name":"signal transduction involved in mitotic cell cycle G1/S checkpoint","type":"narrow"},{"name":"signal transduction involved in mitotic cell cycle checkpoint","type":"exact"}],"termid":"GO:0007093","terms_by_termid":{"GO:0007094":null,"GO:0007095":null,"GO:0031568":null,"GO:0031569":null,"GO:0031571":null,"GO:0031573":null,"GO:0031578":null,"GO:0033314":null,"GO:0044773":null,"GO:0044878":null,"GO:0090267":null,"GO:0140499":null,"GO:1902426":null}}


id: MONDO:0011866
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"pontocerebellar hypoplasia type 1","termid":"MONDO:0016396"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005559"},{"rel_name":"is_a","termid":"MONDO:0037792"},{"rel_name":"is_a","termid":"MONDO:0006025"},{"rel_name":"is_a","termid":"MONDO:0020022"},{"rel_name":"is_a","termid":"MONDO:0005066"}],"interesting_parent_ids":["MONDO:0020022","MONDO:0037792","MONDO:0005066","MONDO:0005559","MONDO:0006025"],"is_obsolete":false,"name":"pontocerebellar hypoplasia type 1A","secondary_identifiers":["OMIM:607596","UMLS:C1843504","GARD:15416","MEDGEN:335969","DOID:0060265"],"synonyms":[{"name":"PCH1A","type":"related"},{"name":"Pch1","type":"related"},{"name":"VRK1 non-syndromic pontocerebellar hypoplasia","type":"exact"},{"name":"non-syndromic pontocerebellar hypoplasia caused by mutation in VRK1","type":"exact"},{"name":"pontocerebellar hypoplasia with anterior horn cell disease","type":"related"},{"name":"pontocerebellar hypoplasia with infantile spinal muscular atrophy","type":"related"},{"name":"pontocerebellar hypoplasia, type 1A","type":"related"}],"termid":"MONDO:0011866","xrefs":{"Monarch":{"xref_id":"0011866"}}}


id: MONDO:0016840
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.","definition_xrefs":["Orphanet:261290"],"direct_ancestors":[{"relation_name":"is_a","term_name":"partial duplication of the short arm of chromosome 17","termid":"MONDO:0016950"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"trisomy 17p","secondary_identifiers":["MESH:C538048","UMLS:C0795865","GARD:5318","MEDGEN:167078","SCTID:717049005"],"synonyms":[{"name":"17p duplication","type":"related"},{"name":"17p trisomy","type":"related"},{"name":"Duplication 17p","type":"related"},{"name":"chromosome 17p duplication","type":"related"},{"name":"dup(17p)","type":"exact"},{"name":"partial trisomy 17p","type":"related"},{"name":"trisomy type 17p","type":"exact"}],"termid":"MONDO:0016840","xrefs":{"Monarch":{"xref_id":"0016840"}}}


id: MONDO:0018390
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete male infertility due to sperm disorder (obsolete MONDO:0018390)","secondary_identifiers":["Orphanet:399771"],"termid":"MONDO:0018390","xrefs":{"Monarch":{"xref_id":"0018390"}}}


id: PBO:0001810
data:
  {"annotation_feature_type":"gene","cv_name":"EC numbers","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"3.2.2.21","termid":"PBO:0001810"}


id: MONDO:0009714
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries.","definition_xrefs":["Orphanet:289380"],"direct_ancestors":[{"relation_name":"is_a","term_name":"collagen 6-related myopathy","termid":"MONDO:0100225"},{"relation_name":"is_a","term_name":"hereditary neurological disease","termid":"MONDO:0100545"},{"relation_name":"is_a","term_name":"hereditary skeletal muscle disorder","termid":"MONDO:0700223"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005336"}],"interesting_parent_ids":["MONDO:0005336"],"is_obsolete":false,"name":"myosclerosis","secondary_identifiers":["icd11.foundation:2105106550","GARD:17325","UMLS:C1850671","MESH:C564968","OMIM:255600","MedDRA:10064584","MEDGEN:338098","SCTID:763895001"],"synonyms":[{"name":"congenital myosclerosis, LC6wenthal type","type":"exact"},{"name":"congenital myosclerosis, Löwenthal type","type":"exact"},{"name":"myopathy, myosclerotic","type":"related"},{"name":"myosclerosis, autosomal recessive","type":"related"},{"name":"myosclerosis, congenital","type":"exact"},{"name":"myosclerosis, congenital, of Lowenthal","type":"related"}],"termid":"MONDO:0009714","xrefs":{"Monarch":{"xref_id":"0009714"}}}


id: MONDO:0018626
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A condition resembling typhoid fever that is caused by infection by Salmonella enterica serovar Parathyphi.","definition_xrefs":["NCIT:P378"],"direct_ancestors":[{"relation_name":"is_a","term_name":"salmonellosis","termid":"MONDO:0000827"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"paratyphoid fever","secondary_identifiers":["ICD9:002.2","NCIT:C34897","DOID:3055","Orphanet:443227","ICD9:002.9","ICD9:002.3","ICD9:002.1","MESH:D010284","SCTID:51254007","GARD:21855","UMLS:C0030528","MEDGEN:18303","EFO:0007420","icd11.foundation:1780040028"],"synonyms":[{"name":"paratyphoid","type":"related"},{"name":"paratyphoid A fever","type":"related"},{"name":"paratyphoid B fever","type":"related"},{"name":"paratyphoid C fever","type":"related"},{"name":"paratyphoid a","type":"related"},{"name":"paratyphoid b","type":"related"},{"name":"paratyphoid c","type":"related"},{"name":"paratyphoid fever A","type":"related"},{"name":"paratyphoid fever B","type":"related"},{"name":"paratyphoid fever C","type":"related"}],"termid":"MONDO:0018626","xrefs":{"Monarch":{"xref_id":"0018626"}}}


id: GO:0006662
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. The chemical reactions and pathways involving glycerol ethers, any anhydride formed between two organic hydroxy compounds, one of which is glycerol.","definition_xrefs":["GOC:ai","ISBN:0198506732"],"gene_count":0,"genotype_count":0,"name":"obsolete glycerol ether metabolic process (obsolete GO:0006662)","synonyms":[{"name":"glycerol ether metabolism","type":"exact"}],"termid":"GO:0006662"}


id: PBO:0050767
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"heparan sulfate proteoglycan 2","termid":"PBO:0050767"}


id: MONDO:0008008
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.","definition_xrefs":["Orphanet:2563"],"direct_ancestors":[{"relation_name":"is_a","term_name":"hereditary disease","termid":"MONDO:0003847"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"MOMO syndrome","secondary_identifiers":["MEDGEN:371897","UMLS:C1834759","SCTID:724137002","OMIM:157980","GARD:178","MESH:C535812"],"synonyms":[{"name":"MOMO syndrome","type":"exact"},{"name":"macrocephaly-obesity-mental disability-ocular abnormalities syndrome","type":"exact"},{"name":"macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus)","type":"related"},{"name":"macrosomia, obesity, macrocephaly, and ocular abnormalities","type":"related"},{"name":"macrosomia, obesity, macrocephaly, ocular abnormalities","type":"related"},{"name":"macrosomia-obesity-macrocephaly-ocular abnormalities syndrome","type":"exact"}],"termid":"MONDO:0008008","xrefs":{"Monarch":{"xref_id":"0008008"}}}


id: GO:0046821
data:
  {"annotation_feature_type":"gene","cv_name":"cellular_component","definition":"DNA structures that are not part of a chromosome.","definition_xrefs":["GOC:ai"],"direct_ancestors":[{"relation_name":"is_a","term_name":"intracellular anatomical structure","termid":"GO:0005622"}],"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":"extrachromosomal DNA","secondary_identifiers":["Wikipedia:Extrachromosomal_DNA"],"termid":"GO:0046821"}


id: GO:0046162
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways involving heme c, a derivative of heme found in cytochromes c, b4, and f.","definition_xrefs":["GOC:curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"heme metabolic process","termid":"GO:0042168"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0033013"}],"interesting_parent_ids":["GO:0033013","GO:0008150"],"is_obsolete":false,"name":"heme C metabolic process","synonyms":[{"name":"haem C metabolic process","type":"exact"},{"name":"haem C metabolism","type":"exact"},{"name":"heme C metabolism","type":"exact"}],"termid":"GO:0046162"}


id: PBO:0027328
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-increased_degradation_of_ribosomal_proteins","termid":"PBO:0027328"}


id: MONDO:0001613
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the brain stem; cerebellum; occipital lobe; medial temporal lobe; and thalamus. Characteristic clinical features include syncope; lightheadedness; visual disturbances; and vertigo. brain stem infarctions or other brain infarction may be associated.","definition_xrefs":["MESH:D014715"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"transient ischemic attack","termid":"MONDO:0005264"},{"relation_name":"is_a","term_name":"vascular insufficiency disorder","termid":"MONDO:0020674"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"vertebrobasilar insufficiency","secondary_identifiers":["ICD9:435.3","UMLS:C0042568","SCTID:64009001","SCTID:195199008","EFO:1001449","MEDGEN:12075","DOID:13003"],"synonyms":[{"name":"vertebro-basilar insufficiency","type":"exact"},{"name":"vertebrobasilar arterial insufficiency","type":"exact"},{"name":"vertebrobasilar artery syndrome","type":"exact"},{"name":"vertebrobasilar insufficiency","type":"exact"}],"termid":"MONDO:0001613","xrefs":{"Monarch":{"xref_id":"0001613"}}}


id: PR:Q09749
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"An adiponectin receptor protein 2 that is encoded in the genome of Schizosaccharomyces pombe 972h-.","definition_xrefs":["PRO:DNx","OMA:SCHPO03283"],"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":"ADIPOR-like receptor SPBC12C2.09c (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPBC12C2.09c","secondary_identifiers":["UniProtKB:Q09749"],"synonyms":[{"name":"Spom972h-ADIPOR2","type":"exact"}],"termid":"PR:Q09749"}


id: PBO:0044434
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"cytochrome P450 family 4 subfamily A member 43, pseudogene","termid":"PBO:0044434"}


id: GO:0043535
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of the migration of the endothelial cells of blood vessels.","definition_xrefs":["GOC:go_curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of endothelial cell migration","termid":"GO:0010594"},{"relation_name":"regulates","term_name":"blood vessel endothelial cell migration","termid":"GO:0043534"}],"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 blood vessel endothelial cell migration","termid":"GO:0043535"}


id: MONDO:0000002
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete 46,XX sex reversal (obsolete MONDO:0000002)","termid":"MONDO:0000002","xrefs":{"Monarch":{"xref_id":"0000002"}}}


id: PBO:0066360
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RCSD domain containing 1","termid":"PBO:0066360"}


id: GO:1903496
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 11-deoxycorticosterone stimulus.","definition_xrefs":["GO_REF:0000071","GOC:mr","GOC:TermGenie","PMID:3585228"],"direct_ancestors":[{"relation_name":"is_a","term_name":"response to mineralocorticoid","termid":"GO:0051385"},{"relation_name":"is_a","term_name":"response to alcohol","termid":"GO:0097305"},{"relation_name":"is_a","term_name":"response to ketone","termid":"GO:1901654"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"response to 11-deoxycorticosterone","termid":"GO:1903496"}


id: MONDO:0003486
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading.","definition_xrefs":["NCIT:C54244"],"direct_ancestors":[{"relation_name":"is_a","term_name":"squamous cell carcinoma","termid":"MONDO:0005096"},{"relation_name":"is_a","term_name":"basaloid carcinoma","termid":"MONDO:0006102"}],"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":"basaloid squamous cell carcinoma","secondary_identifiers":["EFO:1001940","DOID:5522","icd11.foundation:1738201981","ICDO:8083/3","UMLS:C1266005","MEDGEN:266085"],"synonyms":[{"name":"basaloid carcinoma","type":"broad"},{"name":"basaloid carcinoma (morphologic abnormality)","type":"broad"},{"name":"basaloid squamous cell carcinoma","type":"exact"},{"name":"basaloid squamous cell carcinoma (morphologic abnormality)","type":"exact"}],"termid":"MONDO:0003486","xrefs":{"Monarch":{"xref_id":"0003486"}}}


id: PBO:0042947
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 1","termid":"PBO:0042947"}


id: GO:1905597
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. Any process that activates or increases the frequency, rate or extent of low-density lipoprotein particle receptor binding.","definition_xrefs":["GOC:BHF","GO_REF:0000059","PMID:22848640","GOC:TermGenie","GOC:nc"],"gene_count":0,"genotype_count":0,"name":"obsolete positive regulation of low-density lipoprotein particle receptor binding (obsolete GO:1905597)","synonyms":[{"name":"activation of LDL receptor binding","type":"narrow"},{"name":"activation of low-density lipoprotein particle receptor binding","type":"narrow"},{"name":"activation of low-density lipoprotein receptor binding","type":"narrow"},{"name":"positive regulation of LDL receptor binding","type":"exact"},{"name":"positive regulation of low-density lipoprotein receptor binding","type":"exact"},{"name":"up regulation of LDL receptor binding","type":"exact"},{"name":"up regulation of low-density lipoprotein particle receptor binding","type":"exact"},{"name":"up regulation of low-density lipoprotein receptor binding","type":"exact"},{"name":"up-regulation of LDL receptor binding","type":"exact"},{"name":"up-regulation of low-density lipoprotein particle receptor binding","type":"exact"},{"name":"up-regulation of low-density lipoprotein receptor binding","type":"exact"},{"name":"upregulation of LDL receptor binding","type":"exact"},{"name":"upregulation of low-density lipoprotein particle receptor binding","type":"exact"},{"name":"upregulation of low-density lipoprotein receptor binding","type":"exact"}],"termid":"GO:1905597"}


id: GO:0046289
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways involving isoflavonoid phytoalexins, a group of water-soluble phenolic derivatives isomeric with flavonoids that possess antibiotic activity and are produced by plant tissues in response to infection.","definition_xrefs":["GOC:ai"],"direct_ancestors":[{"relation_name":"is_a","term_name":"isoflavonoid metabolic process","termid":"GO:0046287"},{"relation_name":"is_a","term_name":"phytoalexin metabolic process","termid":"GO:0052314"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0019748"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0019748","GO:0008150"],"is_obsolete":false,"name":"isoflavonoid phytoalexin metabolic process","synonyms":[{"name":"isoflavonoid phytoalexin metabolism","type":"exact"}],"termid":"GO:0046289"}


id: GO:0009856
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The cascade of biological processes occurring in plants beginning when the pollen lands on the female reproductive organs of a plant and continuing up to, but not including, fertilization, as defined by sperm-egg cell fusion.","definition_xrefs":["GOC:tb","PMID:10973091"],"direct_ancestors":[{"relation_name":"is_a","term_name":"reproductive process","termid":"GO:0022414"},{"relation_name":"part_of","term_name":"multi-multicellular organism process","termid":"GO:0044706"}],"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":"pollination","secondary_identifiers":["Wikipedia:Pollination"],"termid":"GO:0009856"}


id: PBO:0030401
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-normal_SAGA_complex_assembly","termid":"PBO:0030401"}


id: GO:0002677
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents, or reduces the frequency, rate, or extent of a chronic inflammatory response.","definition_xrefs":["GOC:add"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of chronic inflammatory response","termid":"GO:0002676"},{"relation_name":"is_a","term_name":"negative regulation of inflammatory response","termid":"GO:0050728"},{"relation_name":"negatively_regulates","term_name":"chronic inflammatory response","termid":"GO:0002544"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"negative regulation of chronic inflammatory response","synonyms":[{"name":"down regulation of chronic inflammatory response","type":"exact"},{"name":"down-regulation of chronic inflammatory response","type":"exact"},{"name":"downregulation of chronic inflammatory response","type":"exact"},{"name":"inhibition of chronic inflammatory response","type":"narrow"}],"termid":"GO:0002677"}


id: GO:0061239
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process in which a relatively unspecialized cell acquires specialized features of a mesenchymal stem cell that contributes to the shaping of a nephronin the mesonephros. A mesenchymal stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized mesenchymal cells.","definition_xrefs":["GOC:mtg_kidney_jan10"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cell differentiation involved in mesonephros development","termid":"GO:0061208"},{"relation_name":"is_a","term_name":"mesenchymal stem cell differentiation involved in nephron morphogenesis","termid":"GO:0072037"},{"relation_name":"part_of","term_name":"mesonephric nephron morphogenesis","termid":"GO:0061228"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"mesenchymal stem cell differentiation involved in mesonephric nephron morphogenesis","termid":"GO:0061239"}


id: PBO:0055803
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"lysophosphatidic acid receptor 5","termid":"PBO:0055803"}


id: MONDO:0018231
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments (obsolete MONDO:0018231)","secondary_identifiers":["Orphanet:364531"],"synonyms":[{"name":"primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments","type":"exact"},{"name":"primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments","type":"exact"}],"termid":"MONDO:0018231","xrefs":{"Monarch":{"xref_id":"0018231"}}}


id: PBO:0046445
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"erythropoietin","termid":"PBO:0046445"}


id: MONDO:0018199
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences.","definition_xrefs":["Orphanet:363558"],"direct_ancestors":[{"relation_name":"is_a","term_name":"childhood-onset epilepsy syndrome","termid":"MONDO:0020072"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005027"}],"interesting_parent_ids":["MONDO:0005027"],"is_obsolete":false,"name":"new-onset refractory status epilepticus","secondary_identifiers":["GARD:12244","MEDGEN:1657271","UMLS:C4749462"],"synonyms":[{"name":"De novo cryptogenic refractory multifocal febrile status epilepticus","type":"related"},{"name":"NORSE","type":"exact"},{"name":"New onset refractory status epilepticus","type":"related"},{"name":"Norse","type":"exact"}],"termid":"MONDO:0018199","xrefs":{"Monarch":{"xref_id":"0018199"}}}


id: PBO:0001545
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"tRNA m(1)G methyltransferase Trm10 (predicted)","termid":"PBO:0001545"}


id: SO:0002332
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"A biological region implicated in inherited changes caused by mechanisms other than changes in the underlying DNA sequence.","definition_xrefs":["SO:ds"],"direct_ancestors":[{"relation_name":"has_quality","term_name":"epigenetically_modified","termid":"SO:0000133"},{"relation_name":"is_a","term_name":"epigenetically_modified_region","termid":"SO:0001720"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"epigenomically_modified_region","secondary_identifiers":["https://epi.grants.cancer.gov/epigen/#\\:~\\:text=mail.nih.gov-\\,Overview\\,a%20cell%20or%20entire%20organism."],"synonyms":[{"name":"epigenomically modified region","type":"exact"}],"termid":"SO:0002332"}


id: PBO:0038605
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"acetyl-CoA acetyltransferase 2","termid":"PBO:0038605"}


id: MONDO:0012950
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"intracranial berry aneurysm","termid":"MONDO:0016483"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"aneurysm, intracranial berry, 10","secondary_identifiers":["DOID:0080973","OMIM:612587","UMLS:C2675484","MESH:C567237","GARD:18328","MEDGEN:390811"],"synonyms":[{"name":"ANIB10","type":"exact"},{"name":"aneurysm, intracranial BERRY, 10","type":"related"}],"termid":"MONDO:0012950","xrefs":{"Monarch":{"xref_id":"0012950"}}}


id: GO:0009398
data:
  {"annotated_genes":["SJAG_04845"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[74796],"is_not":false,"summary":null,"term":"GO:0009398"}]},"cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the formation of FMN, the oxidized form of flavin mononucleotide (riboflavin 5'-(dihydrogen phosphate)), which acts as a coenzyme for a number of oxidative enzymes including NADH dehydrogenase.","definition_xrefs":["GOC:ai"],"direct_ancestors":[{"relation_name":"is_a","term_name":"ribonucleoside monophosphate biosynthetic process","termid":"GO:0009156"},{"relation_name":"is_a","term_name":"ribonucleotide biosynthetic process","termid":"GO:0009260"},{"relation_name":"is_a","term_name":"flavin-containing compound biosynthetic process","termid":"GO:0042727"},{"relation_name":"is_a","term_name":"FMN metabolic process","termid":"GO:0046444"}],"gene_count":1,"genes_by_uniquename":{"SJAG_04845":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0055086"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0044281"}],"interesting_parent_ids":["GO:0008150","GO:0044281","GO:0055086"],"is_obsolete":false,"name":"FMN biosynthetic process","references_by_uniquename":{"GO_REF:0000033":null},"synonyms":[{"name":"FMN anabolism","type":"exact"},{"name":"FMN biosynthesis","type":"exact"},{"name":"FMN formation","type":"exact"},{"name":"FMN synthesis","type":"exact"}],"termid":"GO:0009398","terms_by_termid":{"GO:0009398":null}}


id: PBO:0000688
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA-binding protein Seb1","termid":"PBO:0000688"}


id: MONDO:1010665
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Evans syndrome that occurs in horse.","definition_xrefs":["MONDO:patterns/nonhuman_disease"],"direct_ancestors":[{"relation_name":"is_a","term_name":"Evans syndrome, non-human animal","termid":"MONDO:1010082"},{"relation_name":"is_a","term_name":"thrombocytopenia, horse","termid":"MONDO:1010661"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Evans syndrome, horse","secondary_identifiers":["OMIA:001286-9796"],"termid":"MONDO:1010665","xrefs":{"Monarch":{"xref_id":"1010665"}}}


id: GO:0071587
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. The covalent alteration of one or more amino acid residues within the CAAX box region of CAAX box proteins.","definition_xrefs":["GOC:mah"],"gene_count":0,"genotype_count":0,"name":"obsolete CAAX-box protein modification (obsolete GO:0071587)","termid":"GO:0071587"}


id: PBO:0071241
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosomal protein L23a pseudogene 82","termid":"PBO:0071241"}


id: PBO:0069947
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U6 small nuclear 1240, pseudogene","termid":"PBO:0069947"}


id: PBO:0075475
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"SPATA31 subfamily A member 1","termid":"PBO:0075475"}


id: GO:0004936
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Combining with epinephrine or norepinephrine to initiate a change in cell activity via activation of a G protein, with pharmacological characteristics of alpha-adrenergic receptors.","definition_xrefs":["GOC:mah","IUPHAR_GPCR:1274"],"direct_ancestors":[{"relation_name":"is_a","term_name":"adrenergic receptor activity","termid":"GO:0004935"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0038023"}],"interesting_parent_ids":["GO:0003674","GO:0038023"],"is_obsolete":false,"name":"alpha-adrenergic receptor activity","synonyms":[{"name":"alpha adrenoceptor","type":"exact"}],"termid":"GO:0004936"}


id: PBO:0003844
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Blt1","termid":"PBO:0003844"}


id: MOD:01073
data:
  {"annotation_feature_type":"gene","cv_name":"PSI-MOD","definition":"A protein modification that effectively substitutes a 2-chlorobenzyloxycarbonyl group for a hydrogen atom.","definition_xrefs":["DeltaMass:0"],"direct_ancestors":[{"relation_name":"is_a","term_name":"reagent derivatized residue","termid":"MOD:00848"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"2-chlorobenzyloxycarbonyl modified residue","synonyms":[{"name":"Clz","type":"exact"}],"termid":"MOD:01073"}


id: MONDO:1012668
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Any von Willebrand disease that occurs in horses and is characterized by qualitative abnormalities of the glycoprotein von Willebrand factor (vWF) and moderate to severe bleeding.","definition_xrefs":["OMIA:001339-9796"],"direct_ancestors":[{"relation_name":"is_a","term_name":"Von Willebrand disease, horse","termid":"MONDO:1011614"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"von Willebrand disease II, horse","termid":"MONDO:1012668","xrefs":{"Monarch":{"xref_id":"1012668"}}}


id: PBO:0080081
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ubiquitin specific peptidase 43","termid":"PBO:0080081"}


id: MONDO:0100522
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"Marie Unna hereditary hypotrichosis","termid":"MONDO:0018631"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"hypotrichosis 4","secondary_identifiers":["MESH:C567718","OMIM:146550","GARD:15078","UMLS:C2750815","DOID:0110701","MEDGEN:413053"],"synonyms":[{"name":"HYPT4","type":"exact"},{"name":"MUHH1","type":"exact"},{"name":"Marie Unna hereditary hypotrichosis 1","type":"exact"},{"name":"hypotrichosis 4","type":"exact"},{"name":"hypotrichosis type 4","type":"exact"},{"name":"hypotrichosis, Marie Unna type, 1","type":"exact"}],"termid":"MONDO:0100522","xrefs":{"Monarch":{"xref_id":"0100522"}}}


id: GO:0014046
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The regulated release of dopamine by a cell. Dopamine is a catecholamine and a precursor of adrenaline and noradrenaline. It acts as a neurotransmitter in the central nervous system but it is also produced peripherally and acts as a hormone.","definition_xrefs":["GOC:ef"],"direct_ancestors":[{"relation_name":"is_a","term_name":"dopamine transport","termid":"GO:0015872"},{"relation_name":"is_a","term_name":"signal release","termid":"GO:0023061"},{"relation_name":"is_a","term_name":"catecholamine secretion","termid":"GO:0050432"}],"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":"part_of","termid":"GO:0023052"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0051179","GO:0006810","GO:0023052","GO:0008150"],"is_obsolete":false,"name":"dopamine secretion","termid":"GO:0014046"}


id: GO:1902561
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The aggregation, arrangement and bonding together of a set of components to form an origin recognition complex.","definition_xrefs":["PMID:11717425","GOC:TermGenie"],"direct_ancestors":[{"relation_name":"is_a","term_name":"protein-containing complex assembly","termid":"GO:0065003"}],"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":"origin recognition complex assembly","synonyms":[{"name":"ORC assembly","type":"exact"},{"name":"ORC formation","type":"exact"},{"name":"origin of replication recognition complex assembly","type":"exact"},{"name":"origin of replication recognition complex formation","type":"exact"},{"name":"origin recognition complex formation","type":"exact"}],"termid":"GO:1902561"}


id: PR:Q9P792
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- nbr1 gene.","definition_xrefs":["PRO:DNx","UniProtKB:Q9P792"],"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":"ZZ-type zinc finger-containing protein P35G2.11c (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPBP35G2.11c","synonyms":[{"name":"Spom972h-nbr1","type":"exact"}],"termid":"PR:Q9P792"}


id: GO:0045140
data:
  {"annotated_genes":["SJAG_00506"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[99514],"is_not":false,"summary":null,"term":"GO:0045140"}]},"cv_name":"molecular_function","definition":"Catalysis of the reaction: phytoceramide + inositol phosphate = inositol phosphoceramide + diacylglycerol.","definition_xrefs":["PMID:9405490","PMID:9614099"],"direct_ancestors":[{"relation_name":"is_a","term_name":"hexosyltransferase activity","termid":"GO:0016758"}],"gene_count":1,"genes_by_uniquename":{"SJAG_00506":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0016740"},{"rel_name":"is_a","termid":"GO:0016757"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0003824"}],"interesting_parent_ids":["GO:0016740","GO:0016757","GO:0003824","GO:0003674"],"is_obsolete":false,"name":"inositol phosphoceramide synthase activity","references_by_uniquename":{"GO_REF:0000107":null},"secondary_identifiers":["EC:2.7.1.227","MetaCyc:RXN3O-581"],"synonyms":[{"name":"IPC synthase activity","type":"exact"}],"termid":"GO:0045140","terms_by_termid":{"GO:0045140":null}}


id: PBO:0005407
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"SNF2 family helicase Rhp26","termid":"PBO:0005407"}


id: GO:0035099
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The directed movement of a hemocyte within the embryo. Hemocytes are blood cells associated with a hemocoel (the cavity containing most of the major organs of the arthropod body) which are involved in defense and clotting of hemolymph, but not involved in transport of oxygen. In Drosophila, embryonic hemocytes originate from the head mesoderm as a cluster of cells. The cluster splits into two and one group of cells crosses the amnioserosa. Both populations then spread toward the middle of the embryo and then disperse evenly throughout the embryo.","definition_xrefs":["GOC:mtg_sensu","PMID:12885551","GOC:bf"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cell migration","termid":"GO:0016477"},{"relation_name":"part_of","term_name":"embryonic hemopoiesis","termid":"GO:0035162"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"hemocyte migration","synonyms":[{"name":"arthropod blood cell migration","type":"exact"},{"name":"hemocyte cell migration","type":"exact"}],"termid":"GO:0035099"}


id: PBO:0060885
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"nucleolus and neural progenitor protein","termid":"PBO:0060885"}


id: PBO:0111336
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"small subunit processome, U3 snoRNP-associated protein Utp7","termid":"PBO:0111336"}


id: GO:0043909
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: N-acetyl-L-citrulline + H2O = citrulline + acetate.","definition_xrefs":["GOC:jl","PMID:16750290","RHEA:61092"],"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:0016810"},{"rel_name":"is_a","termid":"GO:0016787"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0016810","GO:0003824","GO:0003674","GO:0016787"],"is_obsolete":false,"name":"N-acetylcitrulline deacetylase activity","synonyms":[{"name":"N-acetyl-L-citrulline deacetylase activity","type":"exact"},{"name":"acetylcitrulline deacetylase activity","type":"exact"}],"termid":"GO:0043909"}


id: MONDO:0012237
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"childhood-onset nemaline myopathy","termid":"MONDO:0015738"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005336"},{"rel_name":"is_a","termid":"MONDO:0002320"}],"interesting_parent_ids":["MONDO:0005336","MONDO:0002320"],"is_obsolete":false,"name":"nemaline myopathy 6","secondary_identifiers":["DOID:0110935","GARD:15452","MESH:C538398","OMIM:609273","UMLS:C1836472","MEDGEN:373095"],"synonyms":[{"name":"KBTBD13 nemaline myopathy","type":"exact"},{"name":"NEM6","type":"related"},{"name":"nemaline myopathy 6","type":"exact"},{"name":"nemaline myopathy 6, autosomal dominant","type":"exact"},{"name":"nemaline myopathy caused by mutation in KBTBD13","type":"exact"},{"name":"nemaline myopathy type 6","type":"exact"}],"termid":"MONDO:0012237","xrefs":{"Monarch":{"xref_id":"0012237"}}}


id: PBO:0059083
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"MON1 homolog A, secretory trafficking associated","termid":"PBO:0059083"}


id: GO:0052823
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: (2Z,4E,7E)-2-hydroxy-6-oxonona-2,4,7-trienedioate + H2O = (2Z)-2-hydroxypenta-2,4-dienoate + fumarate + H+.","definition_xrefs":["RHEA:34191"],"direct_ancestors":[{"relation_name":"is_a","term_name":"hydrolase activity, acting on acid carbon-carbon bonds, in ketonic substances","termid":"GO:0016823"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0016787"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0016787","GO:0003824","GO:0003674"],"is_obsolete":false,"name":"2-hydroxy-6-oxonona-2,4,7-trienedioate hydrolase activity","secondary_identifiers":["UM-BBD_reactionID:r1622","KEGG_REACTION:R06789","MetaCyc:RXN-12070"],"synonyms":[{"name":"(2E,4Z,7E)-2-hydroxy-6-oxonona-2,4,7-trienedioate fumarylhydrolase activity","type":"exact"},{"name":"2-hydroxy-6-ketonona-2,4,7-trienedoic acid hydrolase activity","type":"exact"}],"termid":"GO:0052823"}


id: GO:0031047
data:
  {"annotated_genes":["SJAG_02119","SJAG_01540","SJAG_04061","SJAG_03042","SJAG_01062","SJAG_00087","SJAG_04369","SJAG_03916","SJAG_04407","SJAG_03635","SJAG_01331","SJAG_01601","SJAG_02409","SJAG_02817","SJAG_03680","SJAG_00756","SJAG_04141","SJAG_03356","SJAG_04768","SJAG_04253","SJAG_02594","SJAG_01008","SJAG_04030","SJAG_00414","SJAG_05247","SJAG_04942","SJAG_00058","SJAG_02621","SJAG_01836","SJAG_02725","SJAG_03883","SJAG_02622","SJAG_01867","SJAG_01579","SJAG_02908","SJAG_01176","SJAG_03664","SJAG_03745","SJAG_00701","SJAG_03689","SJAG_04574","SJAG_03193"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[89497,91799,94261,117723],"is_not":false,"summary":null,"term":"GO:0031047"},{"annotations":[101129,112534,101575,118042,120163],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0033562"},{"annotations":[110528],"is_not":false,"rel_names":["regulates","negatively_regulates"],"summary":null,"term":"GO:0060906"},{"annotations":[73621],"is_not":false,"rel_names":["part_of"],"summary":null,"term":"GO:0034587"},{"annotations":[90386,73203,120165,120047],"is_not":false,"rel_names":["part_of"],"summary":null,"term":"GO:1990431"},{"annotations":[119819],"is_not":false,"rel_names":["regulates"],"summary":null,"term":"GO:0010964"},{"annotations":[93880,94836,120191],"is_not":false,"rel_names":["part_of"],"summary":null,"term":"GO:0043628"},{"annotations":[111159,115111,113911,106109,109388,109817],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0031048"},{"annotations":[120168,73204],"is_not":false,"rel_names":["part_of"],"summary":null,"term":"GO:1990432"},{"annotations":[118046,73624,73872],"is_not":false,"rel_names":["part_of"],"summary":null,"term":"GO:0030422"},{"annotations":[108338],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1902795"},{"annotations":[116049],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0141194"},{"annotations":[114269,112538,113264,115731,96104,101140,116626,117486,120900,98742,93283,90841,101580,116367,120050,97352,108583,112706,90784,119765,120169,118047],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0140727"},{"annotations":[101141,111738,95723],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:0140185"}]},"cv_name":"biological_process","definition":"A process in which an regulatory non-coding RNA molecule reduces expression of target genes. This can occur pre-transcriptionally by assembly of heterochromatin and prevention of transcription or co- or post-transcriptionally by targeting RNAs for degradation or by interfering with splicing or translation. This process starts once the inhibitory RNA molecule has been transcribed, and includes processing of the RNA such as cleavage, modifications, transport from the nucleus to the cytoplasm, loading onto the RISC complex, and the effect on transcription or translation.","definition_xrefs":["PMID:15020054"],"direct_ancestors":[{"relation_name":"is_a","term_name":"negative regulation of gene expression","termid":"GO:0010629"}],"gene_count":42,"genes_by_uniquename":{"SJAG_00058":null,"SJAG_00087":null,"SJAG_00414":null,"SJAG_00701":null,"SJAG_00756":null,"SJAG_01008":null,"SJAG_01062":null,"SJAG_01176":null,"SJAG_01331":null,"SJAG_01540":null,"SJAG_01579":null,"SJAG_01601":null,"SJAG_01836":null,"SJAG_01867":null,"SJAG_02119":null,"SJAG_02409":null,"SJAG_02594":null,"SJAG_02621":null,"SJAG_02622":null,"SJAG_02725":null,"SJAG_02817":null,"SJAG_02908":null,"SJAG_03042":null,"SJAG_03193":null,"SJAG_03356":null,"SJAG_03635":null,"SJAG_03664":null,"SJAG_03680":null,"SJAG_03689":null,"SJAG_03745":null,"SJAG_03883":null,"SJAG_03916":null,"SJAG_04030":null,"SJAG_04061":null,"SJAG_04141":null,"SJAG_04253":null,"SJAG_04369":null,"SJAG_04407":null,"SJAG_04574":null,"SJAG_04768":null,"SJAG_04942":null,"SJAG_05247":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"negatively_regulates","termid":"GO:0010467"},{"rel_name":"regulates","termid":"GO:0010467"}],"interesting_parent_ids":["GO:0010467","GO:0008150"],"is_obsolete":false,"name":"regulatory ncRNA-mediated gene silencing","references_by_uniquename":{"GO_REF:0000033":null,"GO_REF:0000107":null},"secondary_identifiers":["Reactome:R-HSA-211000"],"synonyms":[{"name":"RNA-dependent gene silencing","type":"exact"},{"name":"RNA-mediated gene silencing","type":"related"},{"name":"gene silencing by RNA","type":"related"}],"termid":"GO:0031047","terms_by_termid":{"GO:0010964":null,"GO:0030422":null,"GO:0031047":null,"GO:0031048":null,"GO:0033562":null,"GO:0034587":null,"GO:0043628":null,"GO:0060906":null,"GO:0140185":null,"GO:0140727":null,"GO:0141194":null,"GO:1902795":null,"GO:1990431":null,"GO:1990432":null}}


id: GO:0009473
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"OBSOLETE. (Was not defined before being made obsolete).","definition_xrefs":["GOC:ai"],"gene_count":0,"genotype_count":0,"name":"obsolete cytochrome c7 (triheme) (obsolete GO:0009473)","synonyms":[{"name":"cytochrome c7 (triheme)","type":"exact"}],"termid":"GO:0009473"}


id: MONDO:0014352
data:
  {"annotated_genes":["SJAG_04980"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[88390],"is_not":false,"summary":null,"term":"MONDO:0014352"}]},"cv_name":"mondo","definition":"Any metabolic syndrome in which the cause of the disease is a mutation in the DYRK1B gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abdominal obesity-metabolic syndrome","termid":"MONDO:0000816"}],"gene_count":1,"genes_by_uniquename":{"SJAG_04980":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005066"}],"interesting_parent_ids":["MONDO:0005066"],"is_obsolete":false,"name":"abdominal obesity-metabolic syndrome 3","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["OMIM:615812","MEDGEN:862798","UMLS:C4014361","DOID:0060612"],"synonyms":[{"name":"AOMS3","type":"related"},{"name":"DYRK1B metabolic syndrome","type":"exact"},{"name":"abdominal obesity-metabolic syndrome 3","type":"exact"},{"name":"abdominal obesity-metabolic syndrome type 3","type":"exact"},{"name":"central obesity, type 2 diabetes, hypertension, and early-onset coronary artery disease","type":"related"},{"name":"metabolic syndrome caused by mutation in DYRK1B","type":"exact"}],"termid":"MONDO:0014352","terms_by_termid":{"MONDO:0014352":null},"xrefs":{"Monarch":{"xref_id":"0014352"}}}


id: PBO:0045897
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"eukaryotic translation elongation factor 2","termid":"PBO:0045897"}


id: PBO:0070341
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNY4 pseudogene 14","termid":"PBO:0070341"}


id: PBO:0072905
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"secretory carrier membrane protein 3","termid":"PBO:0072905"}


id: MONDO:0030988
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":"developmental delay with dysmorphic facies and dental anomalies","secondary_identifiers":["MEDGEN:1785587","OMIM:619228","UMLS:C5543197"],"synonyms":[{"name":"DEFDA","type":"exact"}],"termid":"MONDO:0030988","xrefs":{"Monarch":{"xref_id":"0030988"}}}


id: PBO:0046652
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"esterase activator","termid":"PBO:0046652"}


id: PBO:0068118
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, 5S ribosomal pseudogene 425","termid":"PBO:0068118"}


id: PBO:0074630
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 25","termid":"PBO:0074630"}


id: GO:0001897
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"A process mediated by a symbiont that results in the death of a host cell by means of the rupture of cell membranes and the loss of cytoplasm. The host is defined as the larger of the organisms involved in a symbiotic interaction.","definition_xrefs":["PMID:27405240","PMID:11423190","PMID:23748204","PMID:24204713"],"direct_ancestors":[{"relation_name":"is_a","term_name":"symbiont-mediated killing of host cell","termid":"GO:0001907"},{"relation_name":"is_a","term_name":"cytolysis in another organism","termid":"GO:0051715"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"symbiont-mediated cytolysis of host cell","synonyms":[{"name":"cytolysis by organism of host cells","type":"exact"},{"name":"cytolysis by symbiont of host cells","type":"exact"},{"name":"pathogenesis","type":"related"}],"termid":"GO:0001897"}


id: PBO:0052481
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"KLHDC7B divergent transcript","termid":"PBO:0052481"}


id: PBO:0055370
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 2799","termid":"PBO:0055370"}


id: GO:0090280
data:
  {"annotated_genes":["SJAG_04551"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[104162],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1905665"}]},"cv_name":"biological_process","definition":"Any process that increases the rate, frequency, or extent of the directed movement of calcium ions into a cell or organelle.","definition_xrefs":["GOC:BHF"],"direct_ancestors":[{"relation_name":"is_a","term_name":"positive regulation of calcium ion transport","termid":"GO:0051928"},{"relation_name":"is_a","term_name":"regulation of calcium ion import","termid":"GO:0090279"},{"relation_name":"positively_regulates","term_name":"calcium ion import","termid":"GO:0070509"}],"gene_count":1,"genes_by_uniquename":{"SJAG_04551":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"regulates","termid":"GO:0006810"},{"rel_name":"positively_regulates","termid":"GO:0006810"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0006810","GO:0008150"],"is_obsolete":false,"name":"positive regulation of calcium ion import","references_by_uniquename":{"GO_REF:0000107":null},"synonyms":[{"name":"positive regulation of transmembrane calcium influx","type":"related"}],"termid":"GO:0090280","terms_by_termid":{"GO:1905665":null}}


id: GO:0033206
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"A cell cycle process that results in the division of the cytoplasm of a cell after meiosis, resulting in the separation of the original cell into two daughter cells.","definition_xrefs":["GOC:mtg_cell_cycle"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cytoskeleton-dependent cytokinesis","termid":"GO:0061640"},{"relation_name":"is_a","term_name":"meiotic cell cycle process","termid":"GO:1903046"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"part_of","termid":"GO:0007049"}],"interesting_parent_ids":["GO:0007049","GO:0008150"],"is_obsolete":false,"name":"meiotic cytokinesis","synonyms":[{"name":"cytokinesis after meiosis","type":"exact"}],"termid":"GO:0033206"}


id: MONDO:0015916
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete rare neuroinflammatory or neuroimmunological disease (obsolete MONDO:0015916)","secondary_identifiers":["Orphanet:182064"],"termid":"MONDO:0015916","xrefs":{"Monarch":{"xref_id":"0015916"}}}


id: PBO:0073969
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"solute carrier family 22 member 18","termid":"PBO:0073969"}


id: CHEBI:17677
data:
  {"annotation_feature_type":"gene","cv_name":"chebi_ontology","direct_ancestors":[{"relation_name":"is_a","term_name":"chemical entity","termid":"CHEBI:24431"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"CTP","termid":"CHEBI:17677"}


id: PBO:0089757
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"SMARCAD1 family ATPase Fft3","termid":"PBO:0089757"}


id: FYPO:0006923
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A regulation phenotype in which the frequency of DNA recombination is normal (i.e. indistinguishable from wild type) at DNA replication fork barriers.","definition_xrefs":["PMID:31149897","PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"normal cellular process during vegetative growth","termid":"FYPO:0001319"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0001312"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0000257"}],"interesting_parent_ids":["FYPO:0000002","FYPO:0000257","FYPO:0001320","FYPO:0001312"],"is_obsolete":false,"name":"normal DNA recombination frequency at mitotic DNA replication fork barriers","synonyms":[{"name":"normal DNA recombination frequency at mitotic DNA replication fork barriers during mitotic cell cycle","type":"related"},{"name":"normal DNA recombination frequency at mitotic DNA replication fork barriers during vegetative growth","type":"exact"}],"termid":"FYPO:0006923"}


id: PBO:0014310
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"lisophospholipase family protein","termid":"PBO:0014310"}


id: PBO:0004757
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Hsp70 nucleotide exchange factor (predicted)","termid":"PBO:0004757"}


id: GO:0039010
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process in which the distal tubule of the pronephric nephron acquires its identity.","definition_xrefs":["GOC:mtg_kidney_jan10"],"direct_ancestors":[{"relation_name":"is_a","term_name":"specification of pronephric tubule identity","termid":"GO:0039005"},{"relation_name":"is_a","term_name":"specification of distal tubule identity","termid":"GO:0072084"},{"relation_name":"is_a","term_name":"proximal/distal pattern formation involved in pronephric nephron development","termid":"GO:0072196"},{"relation_name":"part_of","term_name":"pronephric distal tubule morphogenesis","termid":"GO:0039013"}],"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":"specification of pronephric distal tubule identity","termid":"GO:0039010"}


id: FYPO:0006782
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 a protein measured in a complex that is a precursor of the large ribosomal subunit is lower than normal.","definition_xrefs":["PomBase:mah","PMID:27667686"],"direct_ancestors":[{"relation_name":"is_a","term_name":"abnormal subcellular component during vegetative growth","termid":"FYPO:0001322"},{"relation_name":"is_a","term_name":"decreased protein level during vegetative growth","termid":"FYPO:0001324"},{"relation_name":"is_a","term_name":"abnormal protein complex composition","termid":"FYPO:0005003"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"output_of","termid":"FYPO:0006551"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"output_of","termid":"FYPO:0005447"},{"rel_name":"output_of","termid":"FYPO:0001985"}],"interesting_parent_ids":["FYPO:0005447","FYPO:0000002","FYPO:0006551","FYPO:0001985","FYPO:0001320"],"is_obsolete":false,"name":"decreased protein level in large ribosomal subunit precursor","synonyms":[{"name":"decreased large ribosomal subunit precursor complex protein level during vegetative growth","type":"exact"},{"name":"decreased protein level in large ribosomal subunit precursor during mitotic cell cycle","type":"related"},{"name":"decreased protein level in large ribosomal subunit precursor during vegetative growth","type":"exact"},{"name":"decreased protein level in preribosome, large subunit precursor","type":"exact"},{"name":"reduced protein level in large ribosomal subunit precursor","type":"exact"}],"termid":"FYPO:0006782"}


id: PBO:0045202
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"DNAJB12 pseudogene 1","termid":"PBO:0045202"}


id: MONDO:0054591
data:
  {"annotated_genes":["SJAG_03321"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[87494],"is_not":false,"summary":null,"term":"MONDO:0054591"}]},"cv_name":"mondo","definition":"A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems.","definition_xrefs":["OMIM:617516"],"direct_ancestors":[{"relation_name":"is_a","term_name":"syndromic disease","termid":"MONDO:0002254"},{"relation_name":"is_a","term_name":"Mendelian neurodevelopmental disorder","termid":"MONDO:0100500"}],"gene_count":1,"genes_by_uniquename":{"SJAG_03321":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0700092"}],"interesting_parent_ids":["MONDO:0700092"],"is_obsolete":false,"name":"Stankiewicz-Isidor syndrome","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["UMLS:C4479599","MEDGEN:1375936"],"synonyms":[{"name":"STISS","type":"related"},{"name":"Stankiewicz-Isidor syndrome","type":"exact"}],"termid":"MONDO:0054591","terms_by_termid":{"MONDO:0054591":null},"xrefs":{"Monarch":{"xref_id":"0054591"}}}


id: PATO:0001128
data:
  {"annotation_feature_type":"gene","cv_name":"quality","gene_count":0,"genotype_count":0,"name":"OBSOLETE PATO:0001128 absolute work value (obsolete PATO:0001128)","termid":"PATO:0001128"}


id: PBO:0084882
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Mitochondrial RNA polymerase specificity factor; has structural similarity to S-adenosylmethionine-dependent methyltransferases and functional similarity to bacterial sigma-factors; Mtf1p interacts with and stabilizes the Rpo41p-promoter complex, enhancing DNA bending and melting to facilitate pre-initiation open complex formation","termid":"PBO:0084882"}


id: GO:0060126
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process in which a relatively unspecialized cell acquires specialized structural and/or functional features of a somatotropin secreting cell. A somatotropin secreting cell is an acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin.","definition_xrefs":["GOC:dph"],"direct_ancestors":[{"relation_name":"is_a","term_name":"cell differentiation","termid":"GO:0030154"},{"relation_name":"part_of","term_name":"adenohypophysis development","termid":"GO:0021984"}],"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":"somatotropin secreting cell differentiation","synonyms":[{"name":"growth hormone secreting cell differentiation","type":"exact"},{"name":"somatotrope differentiation","type":"related"},{"name":"somatotroph differentiation","type":"related"},{"name":"somatotrophin secreting cell differentiation","type":"exact"},{"name":"somatotropic cell differentiation","type":"related"},{"name":"somatrophic cell differentiation","type":"related"}],"termid":"GO:0060126"}


id: MONDO:0014482
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the SETBP1 gene.","definition_xrefs":["MONDO:patterns/disease_series_by_gene"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"autosomal dominant non-syndromic intellectual disability","termid":"MONDO:0015802"},{"relation_name":"is_a","term_name":"autosomal dominant disease","termid":"MONDO:0000426"},{"relation_name":"is_a","term_name":"syndromic disease","termid":"MONDO:0002254"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0000426"}],"interesting_parent_ids":["MONDO:0000426"],"is_obsolete":false,"name":"intellectual disability, autosomal dominant 29","secondary_identifiers":["OMIM:616078","NORD:1958","GARD:13379","DOID:0070059","UMLS:C4015141","MEDGEN:863578"],"synonyms":[{"name":"MRD29","type":"exact"},{"name":"SETBP1 Haploinsufficiency Disorder","type":"exact"},{"name":"SETBP1 disorder","type":"related"},{"name":"SETBP1 intellectual disability-expressive aphasia-facial dysmorphism syndrome","type":"exact"},{"name":"SETBP1 related developmental delay","type":"related"},{"name":"SETBP1-related disorder","type":"related"},{"name":"SETBP1-related intellectual disability","type":"related"},{"name":"autosomal dominant intellectual disability 29","type":"exact"},{"name":"autosomal dominant mental retardation 29","type":"exact"},{"name":"autosomal dominant non-syndromic intellectual disability 29","type":"related"},{"name":"intellectual disability, autosomal dominant 29","type":"exact"},{"name":"intellectual disability, autosomal dominant type 29","type":"exact"},{"name":"intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in SETBP1","type":"exact"},{"name":"mental retardation, autosomal dominant 29","type":"related"},{"name":"mental retardation, autosomal dominant type 29","type":"exact"}],"termid":"MONDO:0014482","xrefs":{"Monarch":{"xref_id":"0014482"}}}


id: MONDO:0011515
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete papillary renal cell carcinoma (obsolete MONDO:0011515)","termid":"MONDO:0011515","xrefs":{"Monarch":{"xref_id":"0011515"}}}


id: GO:0019353
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the formation of protoporphyrinogen IX from other compounds, including glutamate.","definition_xrefs":["PMID:32976912"],"direct_ancestors":[{"relation_name":"is_a","term_name":"protoporphyrinogen IX biosynthetic process","termid":"GO:0006782"},{"relation_name":"is_a","term_name":"tetrapyrrole biosynthetic process from glutamate","termid":"GO:0033526"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0044281"},{"rel_name":"is_a","termid":"GO:0033013"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0006520"},{"rel_name":"part_of","termid":"GO:0033013"}],"interesting_parent_ids":["GO:0008150","GO:0006520","GO:0033013","GO:0044281"],"is_obsolete":false,"name":"protoporphyrinogen IX biosynthetic process from glutamate","synonyms":[{"name":"protoporphyrinogen IX anabolism from glutamate","type":"exact"},{"name":"protoporphyrinogen IX formation from glutamate","type":"exact"},{"name":"protoporphyrinogen IX synthesis from glutamate","type":"exact"}],"termid":"GO:0019353"}


id: PBO:0000961
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ribosome biogenesis ATPase (predicted)","termid":"PBO:0000961"}


id: PBO:0089109
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"tubulin specific chaperone cofactor C, GTPase activating protein Tbc1","termid":"PBO:0089109"}


id: GO:0061661
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the transfer of FAT10 to a substrate protein via the reaction X-FAT10 + S = X + S-FAT10, where X is either an E2 or E3 enzyme, the X-FAT10 linkage is a thioester bond, and the S-FAT10 linkage is an isopeptide bond between the C-terminal glycine of FAT10 and the epsilon-amino group of lysine residues in the substrate.","definition_xrefs":["GOC:dph"],"direct_ancestors":[{"relation_name":"is_a","term_name":"FAT10 transferase activity","termid":"GO:0019775"},{"relation_name":"is_a","term_name":"ubiquitin-like protein ligase activity","termid":"GO:0061659"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0016746"},{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0140096"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0019787"},{"rel_name":"is_a","termid":"GO:0016740"}],"interesting_parent_ids":["GO:0016740","GO:0003674","GO:0016746","GO:0003824","GO:0140096","GO:0019787"],"is_obsolete":false,"name":"FAT10 ligase activity","synonyms":[{"name":"E3","type":"broad"}],"termid":"GO:0061661"}


id: MONDO:0018968
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system.","definition_xrefs":["Orphanet:63259"],"direct_ancestors":[{"relation_name":"is_a","term_name":"neural tube defect","termid":"MONDO:0018075"}],"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":"iniencephaly","secondary_identifiers":["SCTID:2438005","MedDRA:10022034","ICD9:740.2","GARD:10506","icd11.foundation:1558931335","MEDGEN:57756","UMLS:C0152234","ICD10CM:Q00.2","NCIT:C124549"],"termid":"MONDO:0018968","xrefs":{"Monarch":{"xref_id":"0018968"}}}


id: PATO:0000746
data:
  {"annotation_feature_type":"gene","cv_name":"quality","gene_count":0,"genotype_count":0,"name":"OBSOLETE PATO:0000746 consumption value (obsolete PATO:0000746)","termid":"PATO:0000746"}


id: PBO:0035997
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-increased_histone_H3-K9_methylation_at_centromere_central_core_during_vegetative_growth","termid":"PBO:0035997"}


id: MONDO:0015912
data:
  {"annotated_genes":["SJAG_03703","SJAG_02431"],"annotation_feature_type":"gene","cv_annotations":{"mondo":[{"annotations":[88337,88338],"is_not":false,"summary":null,"term":"MONDO:0015912"}]},"cv_name":"mondo","definition":"An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD.","definition_xrefs":["Orphanet:182050"],"direct_ancestors":[{"relation_name":"is_a","term_name":"inherited bleeding disorder, platelet-type","termid":"MONDO:0000009"},{"relation_name":"is_a","term_name":"syndromic disease","termid":"MONDO:0002254"},{"relation_name":"is_a","term_name":"syndromic constitutional thrombocytopenia","termid":"MONDO:0018795"}],"gene_count":2,"genes_by_uniquename":{"SJAG_02431":null,"SJAG_03703":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005570"}],"interesting_parent_ids":["MONDO:0005570"],"is_obsolete":false,"name":"macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss","references_by_uniquename":{"PB_REF:0000006":null},"secondary_identifiers":["MEDGEN:1704278","SCTID:234484005","SCTID:234485006","EFO:0009646","MESH:C537831","UMLS:C5200934","OMIM:605249","OMIM:155100","SCTID:236422008","SCTID:712922002","NCIT:C158788","Orphanet:1984","Orphanet:1019","Orphanet:807","ICD9:582.89","ICD9:287.33","DOID:0060651","ICD9:759.89","NCIT:C131646","OMIM:153640","OMIM:600208","Orphanet:850","GARD:180"],"synonyms":[{"name":"Alport syndrome with macrothrombocytopenia","type":"related"},{"name":"Alport syndrome with macrothrombocytopenia, formerly","type":"related"},{"name":"Brodie Chole griffin syndrome","type":"related"},{"name":"Brodie Chole gryphon syndrome","type":"related"},{"name":"Dohle leukocyte inclusions with giant platelets","type":"related"},{"name":"Epstein syndrome","type":"exact"},{"name":"FTNS","type":"related"},{"name":"Fechtner syndrome","type":"exact"},{"name":"MHA","type":"related"},{"name":"MYH-9 related disease","type":"exact"},{"name":"MYH9 related disorders","type":"related"},{"name":"MYH9 related thrombocytopenia","type":"related"},{"name":"MYH9-RD","type":"exact"},{"name":"MYH9-related disease","type":"exact"},{"name":"MYH9-related disorder","type":"exact"},{"name":"MYH9-related syndrome","type":"exact"},{"name":"MYH9-related syndromic thrombocytopenia","type":"exact"},{"name":"May-Hegglin anomaly","type":"exact"},{"name":"May-Hegglin thrombocytopenia","type":"related"},{"name":"SBS","type":"related"},{"name":"Sebastian platelet syndrome","type":"exact"},{"name":"Sebastian syndrome","type":"exact"},{"name":"bleeding disorder, Platelet-type, 6","type":"related"},{"name":"giant platelet syndrome with thrombocytopenia","type":"exact"},{"name":"macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss","type":"exact"},{"name":"macrothrombocytopenia and progressive sensorineural deafness","type":"exact"},{"name":"macrothrombocytopenia progressive deafness","type":"related"},{"name":"macrothrombocytopenia with dispersed leukocytic inclusions","type":"related"},{"name":"macrothrombocytopenia with leukocyte inclusions","type":"related"},{"name":"macrothrombocytopenia, nephritis, and deafness","type":"related"},{"name":"macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions","type":"related"},{"name":"matins","type":"related"}],"termid":"MONDO:0015912","terms_by_termid":{"MONDO:0015912":null},"xrefs":{"Monarch":{"xref_id":"0015912"}}}


id: MONDO:0028795
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete rare genetic systemic or rheumatologic disease (obsolete MONDO:0028795)","secondary_identifiers":["Orphanet:271870"],"termid":"MONDO:0028795","xrefs":{"Monarch":{"xref_id":"0028795"}}}


id: PBO:0086686
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Putative protein of unknown function; identified by SAGE analysis","termid":"PBO:0086686"}


id: GO:0060790
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The developmental process in which the tooth placode forms. A tooth placode is a thickening of the ectoderm that will give rise to the tooth bud.","definition_xrefs":["GOC:dph","GOC:sdb_2009","GOC:tb"],"direct_ancestors":[{"relation_name":"is_a","term_name":"ectodermal placode formation","termid":"GO:0060788"},{"relation_name":"part_of","term_name":"odontogenesis of dentin-containing tooth","termid":"GO:0042475"}],"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":"tooth placode formation","termid":"GO:0060790"}


id: PBO:0013843
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"OPT oligopeptide transporter family protein Opt3","termid":"PBO:0013843"}


id: MONDO:1012702
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"X-linked form of progressive retinal atrophy that occurs in dogs due to a mutation in the RPGR gene and is characterized by severe manifestation during early retinal development.","definition_xrefs":["PMID:32176262"],"direct_ancestors":[{"relation_name":"is_a","term_name":"progressive retinal atrophy, dog","termid":"MONDO:1012226"},{"relation_name":"is_a","term_name":"X-linked disease, non-human animal","termid":"MONDO:1012575"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"X-linked progressive retinal atrophy 2, RPGR-related, dog","secondary_identifiers":["OMIA:001518-9615"],"synonyms":[{"name":"XLPRA2","type":"exact"},{"name":"progressive retinal atrophy, X-linked, type 2, dog","type":"related"}],"termid":"MONDO:1012702","xrefs":{"Monarch":{"xref_id":"1012702"}}}


id: PBO:0001606
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"myosin II heavy chain Myo3","termid":"PBO:0001606"}


id: PBO:0015704
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"serine/threonine protein phosphatase PP1 subfamily, Sds21","termid":"PBO:0015704"}


id: PBO:0080123
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"VAMP1 antisense RNA 1","termid":"PBO:0080123"}


id: PBO:0066631
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Rab interacting lysosomal protein","termid":"PBO:0066631"}


id: GO:0070963
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that increases the frequency, rate or extent of the directed killing of a gram-negative bacterium by a neutrophil.","definition_xrefs":["GOC:add","GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of neutrophil mediated killing of gram-negative bacterium","termid":"GO:0070951"},{"relation_name":"is_a","term_name":"positive regulation of neutrophil mediated killing of bacterium","termid":"GO:0070962"},{"relation_name":"positively_regulates","term_name":"neutrophil-mediated killing of gram-negative bacterium","termid":"GO:0070945"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"positive regulation of neutrophil mediated killing of gram-negative bacterium","synonyms":[{"name":"activation of neutrophil mediated killing of gram-negative bacterium","type":"narrow"},{"name":"stimulation of neutrophil mediated killing of gram-negative bacterium","type":"narrow"},{"name":"up regulation of neutrophil mediated killing of gram-negative bacterium","type":"exact"},{"name":"up-regulation of neutrophil mediated killing of gram-negative bacterium","type":"exact"},{"name":"upregulation of neutrophil mediated killing of gram-negative bacterium","type":"exact"}],"termid":"GO:0070963"}


id: PBO:0054301
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 1692","termid":"PBO:0054301"}


id: SO:0000460
data:
  {"annotation_feature_type":"gene","cv_name":"sequence","definition":"Germline genomic DNA with the sequence for a V, D, C, or J portion of an immunoglobulin/T-cell receptor.","direct_ancestors":[{"relation_name":"is_a","term_name":"vertebrate_immune_system_gene_recombination_feature","termid":"SO:0000301"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"vertebrate_immunoglobulin_T_cell_receptor_segment","synonyms":[{"name":"vertebrate immunoglobulin T cell receptor segment","type":"exact"},{"name":"vertebrate_immunoglobulin/T-cell receptor gene","type":"exact"}],"termid":"SO:0000460"}


id: GO:0050820
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that activates or increases the frequency, rate or extent of coagulation.","definition_xrefs":["GOC:ai"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of coagulation","termid":"GO:0050818"},{"relation_name":"is_a","term_name":"positive regulation of multicellular organismal process","termid":"GO:0051240"},{"relation_name":"positively_regulates","term_name":"coagulation","termid":"GO:0050817"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"positive regulation of coagulation","synonyms":[{"name":"activation of coagulation","type":"narrow"},{"name":"positive regulation of clotting","type":"exact"},{"name":"stimulation of coagulation","type":"narrow"},{"name":"up regulation of coagulation","type":"exact"},{"name":"up-regulation of coagulation","type":"exact"},{"name":"upregulation of coagulation","type":"exact"}],"termid":"GO:0050820"}


id: PBO:0069506
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U6 small nuclear 774, pseudogene","termid":"PBO:0069506"}


id: PBO:0082863
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Core Sm protein Sm D2; part of heteroheptameric complex (with Smb1p, Smd1p, Smd3p, Sme1p, Smx3p, and Smx2p) that is part of the spliceosomal U1, U2, U4, and U5 snRNPs; homolog of human Sm D2","termid":"PBO:0082863"}


id: PBO:0083573
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 verified ORF SEF1/YBL066C; YBL065W is a non-essential gene","termid":"PBO:0083573"}


id: PR:O94745
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A mitochondrial-processing peptidase subunit alpha that is encoded in the genome of Schizosaccharomyces pombe 972h-.","definition_xrefs":["PANTHER:PTHR11851:SF49","PRO:DNx","OMA:SCHPO03131"],"direct_ancestors":[{"relation_name":"is_a","term_name":"Schizosaccharomyces pombe 972h- protein","termid":"PR:000029043"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"mitochondrial-processing peptidase subunit alpha (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPBC18E5.12c","secondary_identifiers":["UniProtKB:O94745"],"synonyms":[{"name":"Spom972h-PMPCA","type":"exact"},{"name":"alpha-MPP (Schizosaccharomyces pombe 972h-)","type":"exact"}],"termid":"PR:O94745"}


id: PBO:0077117
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"translocase of inner mitochondrial membrane 29","termid":"PBO:0077117"}


id: GO:0009773
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"A photosynthetic electron transport chain in which electrons move from the primary electron acceptor (Quinone, X) through a chain of electron transport molecules in the thylakoid membrane until they reach ferredoxin which passes the electron to the ultimate electron acceptor; NADP.","definition_xrefs":["ISBN:0716731363","GOC:jid","ISBN:0816017360"],"direct_ancestors":[{"relation_name":"is_a","term_name":"photosynthetic electron transport chain","termid":"GO:0009767"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"part_of","termid":"GO:0006091"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0006091"}],"interesting_parent_ids":["GO:0008150","GO:0006091"],"is_obsolete":false,"name":"photosynthetic electron transport in photosystem I","termid":"GO:0009773"}


id: GO:1900680
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that activates or increases the frequency, rate or extent of ferricrocin biosynthetic process.","definition_xrefs":["GOC:TermGenie","GOC:di"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of ferricrocin biosynthetic process","termid":"GO:1900678"},{"relation_name":"is_a","term_name":"positive regulation of ferrichrome biosynthetic process","termid":"GO:1905570"},{"relation_name":"positively_regulates","term_name":"ferricrocin biosynthetic process","termid":"GO:0031171"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"positively_regulates","termid":"GO:0019748"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"regulates","termid":"GO:0019748"}],"interesting_parent_ids":["GO:0019748","GO:0008150"],"is_obsolete":false,"name":"positive regulation of ferricrocin biosynthetic process","synonyms":[{"name":"activation of ferricrocin anabolism","type":"exact"},{"name":"activation of ferricrocin biosynthesis","type":"exact"},{"name":"activation of ferricrocin biosynthetic process","type":"narrow"},{"name":"activation of ferricrocin biosynthetic process, peptide formation","type":"narrow"},{"name":"activation of ferricrocin biosynthetic process, peptide modification","type":"narrow"},{"name":"activation of ferricrocin formation","type":"exact"},{"name":"activation of ferricrocin synthesis","type":"exact"},{"name":"positive regulation of ferricrocin anabolism","type":"exact"},{"name":"positive regulation of ferricrocin biosynthesis","type":"exact"},{"name":"positive regulation of ferricrocin biosynthetic process, peptide formation","type":"narrow"},{"name":"positive regulation of ferricrocin biosynthetic process, peptide modification","type":"narrow"},{"name":"positive regulation of ferricrocin formation","type":"exact"},{"name":"positive regulation of ferricrocin synthesis","type":"exact"},{"name":"up regulation of ferricrocin anabolism","type":"exact"},{"name":"up regulation of ferricrocin biosynthesis","type":"exact"},{"name":"up regulation of ferricrocin biosynthetic process","type":"exact"},{"name":"up regulation of ferricrocin biosynthetic process, peptide formation","type":"narrow"},{"name":"up regulation of ferricrocin biosynthetic process, peptide modification","type":"narrow"},{"name":"up regulation of ferricrocin formation","type":"exact"},{"name":"up regulation of ferricrocin synthesis","type":"exact"},{"name":"up-regulation of ferricrocin anabolism","type":"exact"},{"name":"up-regulation of ferricrocin biosynthesis","type":"exact"},{"name":"up-regulation of ferricrocin biosynthetic process","type":"exact"},{"name":"up-regulation of ferricrocin biosynthetic process, peptide formation","type":"narrow"},{"name":"up-regulation of ferricrocin biosynthetic process, peptide modification","type":"narrow"},{"name":"up-regulation of ferricrocin formation","type":"exact"},{"name":"up-regulation of ferricrocin synthesis","type":"exact"},{"name":"upregulation of ferricrocin anabolism","type":"exact"},{"name":"upregulation of ferricrocin biosynthesis","type":"exact"},{"name":"upregulation of ferricrocin biosynthetic process","type":"exact"},{"name":"upregulation of ferricrocin biosynthetic process, peptide formation","type":"narrow"},{"name":"upregulation of ferricrocin biosynthetic process, peptide modification","type":"narrow"},{"name":"upregulation of ferricrocin formation","type":"exact"},{"name":"upregulation of ferricrocin synthesis","type":"exact"}],"termid":"GO:1900680"}


id: GO:0099630
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process during which neurotransmitter receptors in the postsynaptic specialization membrane are recycled via the endosome. This cycle includes release from anchoring (trapping), diffusion in the synaptic membrane to the postsynaptic endocytic region, endocytosis, transport to the endosome, recycling in the endosome, transport back the synaptic membrane and subsequent trapping in the postsynaptic specialization membrane.","definition_xrefs":["PMID:18832033"],"direct_ancestors":[{"relation_name":"is_a","term_name":"establishment of localization in cell","termid":"GO:0051649"},{"relation_name":"is_a","term_name":"neurotransmitter receptor cycle","termid":"GO:0099627"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0051179"},{"rel_name":"is_a","termid":"GO:0006810"}],"interesting_parent_ids":["GO:0051179","GO:0006810","GO:0008150"],"is_obsolete":false,"name":"postsynaptic neurotransmitter receptor cycle","termid":"GO:0099630"}


id: PBO:0062639
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"olfactory receptor family 11 subfamily K member 1B pseudogene","termid":"PBO:0062639"}


id: PATO:0001574
data:
  {"annotation_feature_type":"gene","cv_name":"quality","definition":"A physical quality inhering in a bearer by virtue of the bearer's motion characteristic.","definition_xrefs":["WordNet:WordNet"],"direct_ancestors":[{"relation_name":"is_a","term_name":"movement quality","termid":"PATO:0001906"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"flow rate","termid":"PATO:0001574"}


id: PBO:0081918
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"zinc finger protein 887, pseudogene","termid":"PBO:0081918"}


id: GO:0072243
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process whose specific outcome is the progression of the metanephric nephron epithelium over time, from its formation to the mature structure. An epithelium is a tissue that covers the internal or external surfaces of an anatomical structure. The metanephric nephron epithelium is a tissue that covers the surface of a nephron in the metanephros.","definition_xrefs":["GOC:mtg_kidney_jan10"],"direct_ancestors":[{"relation_name":"is_a","term_name":"nephron epithelium development","termid":"GO:0072009"},{"relation_name":"is_a","term_name":"metanephric epithelium development","termid":"GO:0072207"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"metanephric nephron epithelium development","termid":"GO:0072243"}


id: GO:0036218
data:
  {"annotated_genes":["SJAG_01651"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[99114],"is_not":false,"summary":null,"term":"GO:0036218"}]},"cv_name":"molecular_function","definition":"Catalysis of the reaction: dTTP + H2O = dTMP + H+ + diphosphate.","definition_xrefs":["GOC:dgf","PMID:22531138","RHEA:28534"],"direct_ancestors":[{"relation_name":"is_a","term_name":"nucleoside triphosphate diphosphatase activity","termid":"GO:0047429"}],"gene_count":1,"genes_by_uniquename":{"SJAG_01651":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0047429"},{"rel_name":"is_a","termid":"GO:0016787"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0003824"}],"interesting_parent_ids":["GO:0016787","GO:0047429","GO:0003674","GO:0003824"],"is_obsolete":false,"name":"dTTP diphosphatase activity","references_by_uniquename":{"GO_REF:0000107":null},"secondary_identifiers":["MetaCyc:RXN0-5107"],"synonyms":[{"name":"dTTP pyrophosphatase activity","type":"exact"}],"termid":"GO:0036218","terms_by_termid":{"GO:0036218":null}}


id: PBO:0046151
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"endosome-lysosome associated apoptosis and autophagy regulator 1","termid":"PBO:0046151"}


id: PBO:0074837
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"small nucleolar RNA, C/D box 31B","termid":"PBO:0074837"}


id: PBO:0014269
data:
  {"annotation_feature_type":"gene","cv_name":"disease_associated","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"congenital disorders of glycosylation","termid":"PBO:0014269"}


id: GO:0031860
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The formation of the single stranded telomeric 3' overhang, a conserved feature that ranges in length from 12 nt in budding yeast to approximately 500 nt in humans.","definition_xrefs":["PMID:16096639"],"direct_ancestors":[{"relation_name":"is_a","term_name":"DNA strand elongation","termid":"GO:0022616"},{"relation_name":"part_of","term_name":"telomere capping","termid":"GO:0016233"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"part_of","termid":"GO:0032200"},{"rel_name":"part_of","termid":"GO:0006259"},{"rel_name":"is_a","termid":"GO:0006259"}],"interesting_parent_ids":["GO:0032200","GO:0008150","GO:0006259"],"is_obsolete":false,"name":"telomeric 3' overhang formation","synonyms":[{"name":"telomere 3'-end processing","type":"exact"},{"name":"telomere end processing","type":"related"}],"termid":"GO:0031860"}


id: FYPO:0002687
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A physical cellular phenotype observed in the vegetative growth phase of the life cycle in which telomere length is normal (i.e. indistinguishable from wild type).","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"normal telomere morphology during vegetative growth","termid":"FYPO:0006513"},{"relation_name":"is_a","term_name":"normal telomere length","termid":"FYPO:0006515"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0001320"},{"rel_name":"is_a","termid":"FYPO:0000257"}],"interesting_parent_ids":["FYPO:0000257","FYPO:0000002","FYPO:0001320"],"is_obsolete":false,"name":"normal telomere length during vegetative growth","synonyms":[{"name":"normal telomere length during mitotic cell cycle","type":"related"}],"termid":"FYPO:0002687"}


id: GO:0044019
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"OBSOLETE. Catalysis of the reaction: acetyl-CoA + histone H3 L-lysine (position 72) = CoA + histone H3 N6-acetyl-L-lysine (position 72).","definition_xrefs":["GOC:curators"],"gene_count":0,"genotype_count":0,"name":"obsolete histone H3K72 acetyltransferase activity (obsolete GO:0044019)","synonyms":[{"name":"histone H3-K72 acetyltransferase activity","type":"exact"},{"name":"histone acetylase activity (H3-K72 specific)","type":"exact"},{"name":"histone acetyltransferase activity (H3-K72 specific)","type":"exact"},{"name":"histone lysine N-acetyltransferase activity (H3-K72 specific)","type":"exact"}],"termid":"GO:0044019"}


id: MONDO:0030052
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete disease with punctate palmoplantar keratoderma as a major feature (obsolete MONDO:0030052)","termid":"MONDO:0030052","xrefs":{"Monarch":{"xref_id":"0030052"}}}


id: MONDO:0043254
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"urticaria","termid":"MONDO:0005492"},{"relation_name":"is_a","term_name":"vesiculobullous skin disease","termid":"MONDO:0006617"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005093"}],"interesting_parent_ids":["MONDO:0005093"],"is_obsolete":false,"name":"papular urticaria","secondary_identifiers":["SCTID:55608001","UMLS:C0263352","icd11.foundation:1014677494","MEDGEN:78091","MESH:C537169"],"synonyms":[{"name":"bullous papular urticaria - type","type":"related"},{"name":"lichen urticatus","type":"related"},{"name":"papular urticaria","type":"exact"},{"name":"prurigo simplex","type":"exact"},{"name":"strophulus","type":"related"},{"name":"urticaria papulosa of hebra","type":"related"}],"termid":"MONDO:0043254","xrefs":{"Monarch":{"xref_id":"0043254"}}}


id: PBO:0069150
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U6 small nuclear 401, pseudogene","termid":"PBO:0069150"}


id: MOD:00535
data:
  {"annotation_feature_type":"gene","cv_name":"PSI-MOD","definition":"modification from Unimod Chemical derivative","definition_xrefs":["PubMed:12216740","Unimod:178"],"direct_ancestors":[{"relation_name":"is_a","term_name":"reagent derivatized residue","termid":"MOD:00848"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"phosphorylation to amine thiol","synonyms":[{"name":"DAET","type":"related"},{"name":"phosphorylation to amine thiol","type":"related"}],"termid":"MOD:00535"}


id: MONDO:0017621
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"congenital sucrase-isomaltase deficiency","termid":"MONDO:0009114"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005066"},{"rel_name":"is_a","termid":"MONDO:0004335"},{"rel_name":"is_a","termid":"MONDO:0037792"}],"interesting_parent_ids":["MONDO:0005066","MONDO:0004335","MONDO:0037792"],"is_obsolete":false,"name":"congenital sucrase-isomaltase deficiency with starch and lactose intolerance","secondary_identifiers":["Orphanet:306474"],"synonyms":[{"name":"CSID with starch and lactose intolerance","type":"exact"},{"name":"congenital sucrase-isomaltose malabsorption with starch and lactose intolerance","type":"exact"},{"name":"congenital sucrose intolerance with starch and lactose intolerance","type":"exact"},{"name":"disaccharide intolerance with starch and lactose intolerance","type":"exact"}],"termid":"MONDO:0017621","xrefs":{"Monarch":{"xref_id":"0017621"}}}


id: PBO:0109626
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"HTLV-1 related endogenous sequence (pseudogene)","termid":"PBO:0109626"}


id: MONDO:0022171
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A rare condition characterized by the secretion of colored sweat, caused by the deposition of lipofuscin in the sweat glands. Usually chromhidrosis affects the apocrine glands, mainly on the face and underarms.","definition_xrefs":["Wikipedia:Chromhidrosis"],"direct_ancestors":[{"relation_name":"is_a","term_name":"apocrine sweat gland disorder","termid":"MONDO:0024467"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005093"}],"interesting_parent_ids":["MONDO:0005093"],"is_obsolete":false,"name":"chromhidrosis","secondary_identifiers":["ICD9:705.89","MEDGEN:82667","SCTID:26147006","UMLS:C0263473","icd11.foundation:864449620","ICD10CM:L75.1"],"synonyms":[{"name":"chromhidrosis","type":"exact"},{"name":"secretion of colored sweat","type":"related"},{"name":"secretion of coloured sweat","type":"related"}],"termid":"MONDO:0022171","xrefs":{"Monarch":{"xref_id":"0022171"}}}


id: PBO:0048927
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"golgi integral membrane protein 4","termid":"PBO:0048927"}


id: PBO:0058308
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 4681","termid":"PBO:0058308"}


id: GO:0051400
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Binding to a Bcl-2 homology (BH) protein domain. Bcl-2-related proteins share homology in one to four conserved regions designated the Bcl-2 homology (BH) domains BH1, BH2, BH3 and BH4. These domains contribute at multiple levels to the function of these proteins in cell death and survival. Anti-apoptotic members of the Bcl-2 family have four BH domains (BH1-BH4). Pro-apoptotic members have fewer BH domains.","definition_xrefs":["PMID:12133724","PMID:9020082","PMID:11048732","PMID:9704409"],"direct_ancestors":[{"relation_name":"is_a","term_name":"protein domain specific binding","termid":"GO:0019904"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0005488"},{"rel_name":"is_a","termid":"GO:0005515"},{"rel_name":"is_a","termid":"GO:0003674"}],"interesting_parent_ids":["GO:0005488","GO:0003674","GO:0005515"],"is_obsolete":false,"name":"BH domain binding","synonyms":[{"name":"Bcl-2 homology domain binding","type":"exact"}],"termid":"GO:0051400"}


id: PBO:0050749
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"heat shock protein family E (Hsp10) member 1 pseudogene 11","termid":"PBO:0050749"}


id: GO:0106027
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a neuron, e.g. an axon, or a dendrite.","definition_xrefs":["GOC:bc","GOC:aruk","PMID:11585923"],"direct_ancestors":[{"relation_name":"is_a","term_name":"plasma membrane bounded cell projection organization","termid":"GO:0120036"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"neuron projection organization","termid":"GO:0106027"}


id: GO:0098670
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The process by which a virion attaches to a host cell by binding to a receptor on the host cell surface that mediates/triggers viral entry by endocytosis/pinocytosis or by inducing fusion/penetration.","definition_xrefs":["VZ:3942","PMID:18351291"],"direct_ancestors":[{"relation_name":"is_a","term_name":"receptor-mediated virion attachment to host cell","termid":"GO:0046813"}],"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":"entry receptor-mediated virion attachment to host cell","synonyms":[{"name":"viral attachment to host entry receptor","type":"exact"}],"termid":"GO:0098670"}


id: PBO:0042559
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"cyclin dependent kinase like 1","termid":"PBO:0042559"}


id: PATO:0000857
data:
  {"annotation_feature_type":"gene","cv_name":"quality","gene_count":0,"genotype_count":0,"name":"OBSOLETE PATO:0000857 lordosis reflex value (obsolete PATO:0000857)","termid":"PATO:0000857"}


id: PBO:0073905
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"solute carrier family 15 member 3","termid":"PBO:0073905"}


id: GO:0044522
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"A process that begins with venom being forced into an organism by the bite or sting of another organism, killing heart myocytes and ultimately resulting in muscle damage in the bitten organism.","definition_xrefs":["PMID:21150580","GOC:jl","PMID:10620318","GOC:fj"],"direct_ancestors":[{"relation_name":"is_a","term_name":"killing of cells of another organism","termid":"GO:0031640"},{"relation_name":"is_a","term_name":"venom-mediated muscle damage in another organism","termid":"GO:0044521"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"venom-mediated myocyte killing in another organism","synonyms":[{"name":"envenomation resulting in myocyte killing causing muscle damage in other organism","type":"exact"},{"name":"envenomation resulting in myocyte killing in another organism","type":"exact"},{"name":"envenomation resulting in myocyte killing in other organism","type":"exact"}],"termid":"GO:0044522"}


id: PBO:0034336
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-synapsed_via_type_Is_bouton_to","termid":"PBO:0034336"}


id: MONDO:0005415
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete acute lung injury (obsolete MONDO:0005415)","termid":"MONDO:0005415","xrefs":{"Monarch":{"xref_id":"0005415"}}}


id: GO:0102919
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Catalysis of the reaction: FMNH2 + O2 = 5,6-dimethylbenzimidazole + D-erythrose 4-phosphate + dialuric acid.","definition_xrefs":["EC:1.13.11.79"],"direct_ancestors":[{"relation_name":"is_a","term_name":"oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen","termid":"GO:0016702"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003824"},{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0016491"}],"interesting_parent_ids":["GO:0003824","GO:0003674","GO:0016491"],"is_obsolete":false,"name":"5,6-dimethylbenzimidazole synthase activity","secondary_identifiers":["MetaCyc:RXN-8771","RHEA:27345"],"termid":"GO:0102919"}


id: PBO:0041830
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"CASC3 exon junction complex subunit","termid":"PBO:0041830"}


id: GO:0103048
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"OBSOLETE. Catalysis of the reaction: 2 S-adenosyl-L-methionine + an adenine37 in tRNA = S-adenosyl-L-homocysteine + L-methionine + 5'-deoxyadenosine + a 2-methyladenine37 in tRNA.","definition_xrefs":["GOC:pz"],"gene_count":0,"genotype_count":0,"name":"obsolete tRNA m2A37 methyltransferase activity (obsolete GO:0103048)","termid":"GO:0103048"}


id: PBO:0046580
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"endogenous retrovirus group K member 22","termid":"PBO:0046580"}


id: GO:0052863
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways involving 1-deoxy-D-xylulose 5-phosphate, the 5-phospho derivative of 1-deoxy-D-xylulose. 1-deoxy-D-xylulose 5-phosphate is an intermediate in the non-mevalonate pathway and a common precursor for isoprenoid, thiamin, and pyridoxol biosynthesis.","definition_xrefs":["GOC:curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"phosphate-containing compound metabolic process","termid":"GO:0006796"},{"relation_name":"is_a","term_name":"organophosphate metabolic process","termid":"GO:0019637"},{"relation_name":"is_a","term_name":"carbohydrate derivative metabolic process","termid":"GO:1901135"}],"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":"1-deoxy-D-xylulose 5-phosphate metabolic process","synonyms":[{"name":"(2R,3S)-2,3-dihydroxy-4-oxopentyl dihydrogen phosphate metabolic process","type":"exact"},{"name":"(2R,3S)-2,3-dihydroxy-4-oxopentyl dihydrogen phosphate metabolism","type":"exact"},{"name":"1-deoxy-D-xylulose 5-phosphate metabolism","type":"exact"}],"termid":"GO:0052863"}


id: GO:0031766
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"Binding to a type 3 galanin receptor.","definition_xrefs":["GOC:nln","GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"galanin receptor binding","termid":"GO:0031763"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0003674"},{"rel_name":"is_a","termid":"GO:0005488"},{"rel_name":"is_a","termid":"GO:0005515"}],"interesting_parent_ids":["GO:0005515","GO:0005488","GO:0003674"],"is_obsolete":false,"name":"type 3 galanin receptor binding","synonyms":[{"name":"type 3 galanin receptor ligand","type":"narrow"}],"termid":"GO:0031766"}


id: PBO:0068235
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, 18S ribosomal N1","termid":"PBO:0068235"}


id: PBO:0025445
data:
  {"annotation_feature_type":"gene","cv_name":"disease_associated","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"purine-pyrimidine metabolism disorders","termid":"PBO:0025445"}


id: MONDO:0003291
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.","definition_xrefs":["NCIT:P378"],"direct_ancestors":[{"relation_name":"is_a","term_name":"leiomyoma","termid":"MONDO:0001572"},{"relation_name":"is_a","term_name":"dermis tumor","termid":"MONDO:0002300"},{"relation_name":"is_a","term_name":"benign neoplasm of skin","termid":"MONDO:0021440"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005093"}],"interesting_parent_ids":["MONDO:0005093"],"is_obsolete":false,"name":"leiomyoma cutis","secondary_identifiers":["DOID:5132","UMLS:C0346064","MEDGEN:87533","SCTID:254767008","NCIT:C4482"],"synonyms":[{"name":"cutaneous (skin) leiomyoma","type":"exact"},{"name":"cutaneous leiomyoma","type":"exact"},{"name":"leiomyoma cutis","type":"exact"},{"name":"leiomyoma of skin","type":"exact"},{"name":"leiomyoma of the skin","type":"exact"},{"name":"leiomyoma of zone of skin","type":"exact"},{"name":"skin leiomyoma","type":"exact"},{"name":"zone of skin leiomyoma","type":"exact"}],"termid":"MONDO:0003291","xrefs":{"Monarch":{"xref_id":"0003291"}}}


id: PBO:0056188
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"MAGE family member A2","termid":"PBO:0056188"}


id: MONDO:0017400
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated.","definition_xrefs":["Orphanet:293864"],"direct_ancestors":[{"relation_name":"is_a","term_name":"syndromic disease","termid":"MONDO:0002254"},{"relation_name":"is_a","term_name":"hereditary disease","termid":"MONDO:0003847"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome","secondary_identifiers":["UMLS:C2748662","GARD:5237","OMIM:615710","MEDGEN:411637"],"synonyms":[{"name":"MTCHRS","type":"related"},{"name":"Mitchell-Riley syndrome","type":"exact"},{"name":"diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia","type":"related"},{"name":"hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome","type":"exact"},{"name":"hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome","type":"related"}],"termid":"MONDO:0017400","xrefs":{"Monarch":{"xref_id":"0017400"}}}


id: PBO:0087811
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Tetradecameric mitochondrial chaperonin; required for ATP-dependent folding of precursor polypeptides and complex assembly; prevents aggregation and mediates protein refolding after heat shock; role in mtDNA transmission; phosphorylated","termid":"PBO:0087811"}


id: PBO:0052062
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"lysine acetyltransferase 2B","termid":"PBO:0052062"}


id: PBO:0061253
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"nitric oxide synthase 3","termid":"PBO:0061253"}


id: GO:0075012
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents, or reduces the frequency, rate or extent of germ tube formation on or near host. The host is defined as the larger of the organisms involved in a symbiotic interaction.","definition_xrefs":["GOC:pamgo_curators"],"direct_ancestors":[{"relation_name":"is_a","term_name":"negative regulation of developmental process","termid":"GO:0051093"},{"relation_name":"is_a","term_name":"regulation of germ tube formation","termid":"GO:0075010"},{"relation_name":"negatively_regulates","term_name":"germ tube formation","termid":"GO:0075009"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"negative regulation of germ tube formation","synonyms":[{"name":"negative regulation of germ tube formation on or near host","type":"exact"}],"termid":"GO:0075012"}


id: PBO:0061349
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"nucleophosmin 1 pseudogene 7","termid":"PBO:0061349"}


id: MONDO:0016084
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete Crigler-Najjar syndrome (obsolete MONDO:0016084)","termid":"MONDO:0016084","xrefs":{"Monarch":{"xref_id":"0016084"}}}


id: GO:1900169
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. Any process that modulates the frequency, rate or extent of glucocorticoid mediated signaling pathway.","definition_xrefs":["GOC:TermGenie"],"gene_count":0,"genotype_count":0,"name":"obsolete regulation of glucocorticoid mediated signaling pathway (obsolete GO:1900169)","synonyms":[{"name":"regulation of glucocorticoid mediated signalling","type":"exact"}],"termid":"GO:1900169"}


id: GO:0034786
data:
  {"annotation_feature_type":"gene","cv_name":"molecular_function","definition":"OBSOLETE. Catalysis of the reaction: 9-fluorenone + O2 + 2 H+ + 2 e- = 1-hydro-1,1a-dihydroxy-9-fluorenone.","definition_xrefs":["GOC:curators"],"gene_count":0,"genotype_count":0,"name":"obsolete 9-fluorenone-3,4-dioxygenase activity (obsolete GO:0034786)","termid":"GO:0034786"}


id: FYPO:0002220
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"A cellular process phenotype in which the duration of one or more meiotic cell cycle phases is longer than normal.","definition_xrefs":["PomBase:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"increased duration of cell cycle phase","termid":"FYPO:0000408"},{"relation_name":"is_a","term_name":"abnormal meiotic cell cycle phase","termid":"FYPO:0002738"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"FYPO:0001985"},{"rel_name":"is_a","termid":"FYPO:0005447"},{"rel_name":"is_a","termid":"FYPO:0000002"},{"rel_name":"is_a","termid":"FYPO:0000631"}],"interesting_parent_ids":["FYPO:0005447","FYPO:0000002","FYPO:0000631","FYPO:0001985"],"is_obsolete":false,"name":"increased duration of meiotic cell cycle phase","synonyms":[{"name":"prolonged meiotic cell cycle phase","type":"exact"}],"termid":"FYPO:0002220"}


id: MONDO:0600009
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. Individuals often present with these features in infancy or in the perinatal period.","definition_xrefs":["PMID:32973344"],"direct_ancestors":[{"relation_name":"is_a","term_name":"ALPL-related autosomal recessive hypophosphatasia","termid":"MONDO:0100609"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005066"},{"rel_name":"is_a","termid":"MONDO:0006025"}],"interesting_parent_ids":["MONDO:0005066","MONDO:0006025"],"is_obsolete":false,"name":"severe hypophosphatasia","termid":"MONDO:0600009","xrefs":{"Monarch":{"xref_id":"0600009"}}}


id: GO:0003824
data:
  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id: GO:0120563
data:
  {"annotated_genes":["SJAG_00295"],"annotation_feature_type":"gene","cv_annotations":{"molecular_function":[{"annotations":[93235],"is_not":false,"summary":null,"term":"GO:0120563"}]},"cv_name":"molecular_function","definition":"Catalysis of the transfer of an alpha-D-mannosyl residue from dolichol-P-mannose to Man(1)-GlcN-acyl-PI, forming an alpha-(1->6)-D-mannosyl-D-mannose linkage. This transfers the second mannose to the GPI precursor.","definition_xrefs":["PMID:15623507"],"direct_ancestors":[{"relation_name":"is_a","term_name":"alpha-1,6-mannosyltransferase activity","termid":"GO:0000009"},{"relation_name":"is_a","term_name":"GPI mannosyltransferase activity","termid":"GO:0004376"}],"gene_count":1,"genes_by_uniquename":{"SJAG_00295":null},"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:0016740"},{"rel_name":"is_a","termid":"GO:0016757"}],"interesting_parent_ids":["GO:0003674","GO:0003824","GO:0016757","GO:0016740"],"is_obsolete":false,"name":"dol-P-Man:Man(1)GlcN-acyl-PI alpha-1,6-mannosyltransferase activity","references_by_uniquename":{"GO_REF:0000107":null},"synonyms":[{"name":"GPI-MT-II activity","type":"exact"},{"name":"glycosylphosphatidylinositol-mannosyltransferase II activity","type":"exact"}],"termid":"GO:0120563","terms_by_termid":{"GO:0120563":null}}


id: GO:0061709
data:
  {"annotated_genes":["SJAG_03851","SJAG_03100","SJAG_04219","SJAG_00004","SJAG_04502","SJAG_02539","SJAG_05289","SJAG_02852","SJAG_04232","SJAG_03170","SJAG_00053","SJAG_04435","SJAG_00059","SJAG_04655","SJAG_01135","SJAG_01382","SJAG_04991"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[60015,74650,75056,75070,76550,78850,80254,81554,81635,81660,82037,92420,101412,110603,112714,118658],"is_not":false,"summary":null,"term":"GO:0061709"},{"annotations":[91532],"is_not":false,"rel_names":["regulates","positively_regulates"],"summary":null,"term":"GO:0140501"}]},"cv_name":"biological_process","definition":"The selective autohagy process in which parts of the endoplasmic reticulum are loaded into autophagosomes, delivered to the vacuole, and degraded in response to changing cellular conditions.","definition_xrefs":["GOC:autophagy","PMID:22481944","GOC:dph","PMID:24060720","PMID:26040717"],"direct_ancestors":[{"relation_name":"is_a","term_name":"macroautophagy","termid":"GO:0016236"}],"gene_count":17,"genes_by_uniquename":{"SJAG_00004":null,"SJAG_00053":null,"SJAG_00059":null,"SJAG_01135":null,"SJAG_01382":null,"SJAG_02539":null,"SJAG_02852":null,"SJAG_03100":null,"SJAG_03170":null,"SJAG_03851":null,"SJAG_04219":null,"SJAG_04232":null,"SJAG_04435":null,"SJAG_04502":null,"SJAG_04655":null,"SJAG_04991":null,"SJAG_05289":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"is_a","termid":"GO:0006914"}],"interesting_parent_ids":["GO:0006914","GO:0008150"],"is_obsolete":false,"name":"reticulophagy","references_by_uniquename":{"GO_REF:0000033":null,"GO_REF:0000107":null,"GO_REF:0000117":null},"secondary_identifiers":["GO:1990766"],"synonyms":[{"name":"ER autophagy","type":"exact"},{"name":"ER degradation","type":"related"},{"name":"ER-phagy","type":"exact"},{"name":"autophagy of the ER","type":"exact"},{"name":"autophagy of the endoplasmic reticulum","type":"exact"},{"name":"endoplasmic reticulum autophagy","type":"exact"},{"name":"endoplasmic reticulum degradation","type":"related"}],"termid":"GO:0061709","terms_by_termid":{"GO:0061709":null,"GO:0140501":null}}


id: GO:0140217
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that activates or increases the frequency, rate or extent of the directed import of D-aspartate from the extracellular region across the plasma membrane and into the cytosol.","definition_xrefs":["PMID:27663541"],"direct_ancestors":[{"relation_name":"is_a","term_name":"positive regulation of organic acid transport","termid":"GO:0032892"},{"relation_name":"is_a","term_name":"positive regulation of transmembrane transport","termid":"GO:0034764"},{"relation_name":"is_a","term_name":"positive regulation of amino acid transport","termid":"GO:0051957"},{"relation_name":"is_a","term_name":"regulation of D-aspartate import across plasma membrane","termid":"GO:0140215"},{"relation_name":"positively_regulates","term_name":"D-aspartate import across plasma membrane","termid":"GO:0070779"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"positively_regulates","termid":"GO:0006810"},{"rel_name":"regulates","termid":"GO:0055085"},{"rel_name":"is_a","termid":"GO:0008150"},{"rel_name":"positively_regulates","termid":"GO:0055085"},{"rel_name":"regulates","termid":"GO:0006810"}],"interesting_parent_ids":["GO:0006810","GO:0055085","GO:0008150"],"is_obsolete":false,"name":"positive regulation of D-aspartate import across plasma membrane","termid":"GO:0140217"}


id: PBO:0030377
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-normal_growth_on_diamide","termid":"PBO:0030377"}


id: MOD:00199
data:
  {"annotation_feature_type":"gene","cv_name":"PSI-MOD","definition":"A protein modification that effectively converts an L-isoleucine residue to a D-allo-isoleucine.","definition_xrefs":["RESID:AA0192","ChEBI:30007","PubMed:8223491"],"direct_ancestors":[{"relation_name":"is_a","term_name":"residues isobaric at 113.084064 Da","termid":"MOD:00306"},{"relation_name":"is_a","term_name":"stereoisomerized residue","termid":"MOD:00664"},{"relation_name":"is_a","term_name":"modified L-isoleucine residue","termid":"MOD:00910"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"D-allo-isoleucine","synonyms":[{"name":"(2R,3S)-2-amino-3-methylpentanoic acid","type":"exact"},{"name":"2-azanyl-3-methylpentanoic acid","type":"exact"},{"name":"3-methyl-norvaline","type":"exact"},{"name":"D-Ile","type":"exact"},{"name":"D-allo-isoleucine","type":"exact"},{"name":"D-threo-isoleucine","type":"exact"},{"name":"MOD_RES D-allo-isoleucine","type":"exact"},{"name":"allo-D-isoleucine","type":"exact"},{"name":"alpha-amino-beta-methylvaleric acid","type":"exact"}],"termid":"MOD:00199"}


id: MONDO:0012778
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"celiac disease","termid":"MONDO:0005130"},{"relation_name":"is_a","term_name":"inherited disease susceptibility","termid":"MONDO:0020573"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"celiac disease, susceptibility to, 9","secondary_identifiers":["OMIM:612007","MEDGEN:393783","UMLS:C2677605"],"synonyms":[{"name":"CELIAC9","type":"exact"},{"name":"celiac disease, susceptibility to, 9","type":"exact"},{"name":"gluten-sensitive enteropathy, susceptibility to, 9","type":"related"}],"termid":"MONDO:0012778","xrefs":{"Monarch":{"xref_id":"0012778"}}}


id: PBO:0069563
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U6 small nuclear 835, pseudogene","termid":"PBO:0069563"}


id: PBO:0002470
data:
  {"annotation_feature_type":"gene","cv_name":"EC numbers","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"2.6.1.19","termid":"PBO:0002470"}


id: GO:0052201
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. 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 detecting the defenses of a symbiont organism. The symbiont is defined as the smaller of the organisms involved in a symbiotic interaction.","definition_xrefs":["GOC:mtg_pamgo_17jul06"],"gene_count":0,"genotype_count":0,"name":"obsolete response to symbiont defenses (obsolete GO:0052201)","termid":"GO:0052201"}


id: PR:Q7Z992
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- sst6 gene.","definition_xrefs":["PRO:DNx","UniProtKB:Q7Z992"],"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":"ESCRT-I complex subunit vps23 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAC11H11.01","synonyms":[{"name":"Spom972h-sst6","type":"exact"},{"name":"suppressor of ste12 deletion protein 6 (Schizosaccharomyces pombe 972h-)","type":"exact"}],"termid":"PR:Q7Z992"}


id: GO:0052193
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"OBSOLETE. The directed movement of an organism or motile cell on, within or near its symbiont organism. The symbiont is defined as the smaller of the organisms involved in a symbiotic interaction.","definition_xrefs":["GOC:mtg_pamgo_17jul06"],"gene_count":0,"genotype_count":0,"name":"obsolete movement in symbiont environment (obsolete GO:0052193)","termid":"GO:0052193"}


id: MONDO:0019646
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","direct_ancestors":[{"relation_name":"is_a","term_name":"congenital megacalycosis","termid":"MONDO:0019639"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005240"}],"interesting_parent_ids":["MONDO:0005240"],"is_obsolete":false,"name":"unilateral congenital megacalycosis","secondary_identifiers":["Orphanet:93176","GARD:19179","UMLS:C5681456","MEDGEN:1842948"],"termid":"MONDO:0019646","xrefs":{"Monarch":{"xref_id":"0019646"}}}


id: GO:0032874
data:
  {"annotated_genes":["SJAG_03969","SJAG_03705","SJAG_00610","SJAG_01787","SJAG_04666","SJAG_00424"],"annotation_feature_type":"gene","cv_annotations":{"biological_process":[{"annotations":[91446,90091,69627,94427,119971,92777],"is_not":false,"rel_names":["is_a"],"summary":null,"term":"GO:1903139"}]},"cv_name":"biological_process","definition":"Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the stress-activated MAPK cascade.","definition_xrefs":["GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of stress-activated MAPK cascade","termid":"GO:0032872"},{"relation_name":"is_a","term_name":"positive regulation of MAPK cascade","termid":"GO:0043410"},{"relation_name":"is_a","term_name":"positive regulation of stress-activated protein kinase signaling cascade","termid":"GO:0070304"},{"relation_name":"positively_regulates","term_name":"stress-activated MAPK cascade","termid":"GO:0051403"}],"gene_count":6,"genes_by_uniquename":{"SJAG_00424":null,"SJAG_00610":null,"SJAG_01787":null,"SJAG_03705":null,"SJAG_03969":null,"SJAG_04666":null},"genotype_count":0,"interesting_parent_details":[{"rel_name":"positively_regulates","termid":"GO:0023052"},{"rel_name":"regulates","termid":"GO:0023052"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150","GO:0023052"],"is_obsolete":false,"name":"positive regulation of stress-activated MAPK cascade","references_by_uniquename":{"GO_REF:0000107":null,"GO_REF:0000117":null},"synonyms":[{"name":"activation of stress-activated MAPK cascade","type":"narrow"},{"name":"positive regulation of p38 MAPK signaling","type":"exact"},{"name":"positive regulation of p38 MAPK signalling","type":"exact"},{"name":"positive regulation of stress-activated MAPK signaling pathway","type":"exact"},{"name":"positive regulation of stress-activated MAPK signalling pathway","type":"exact"},{"name":"positive regulation of stress-activated MAPKKK cascade","type":"exact"},{"name":"positive regulation of stress-activated MAPKKK signaling pathway","type":"exact"},{"name":"positive regulation of stress-activated MAPKKK signalling pathway","type":"exact"},{"name":"stimulation of stress-activated MAPK cascade","type":"narrow"},{"name":"up regulation of stress-activated MAPK cascade","type":"exact"},{"name":"up-regulation of stress-activated MAPK cascade","type":"exact"},{"name":"upregulation of stress-activated MAPK cascade","type":"exact"}],"termid":"GO:0032874","terms_by_termid":{"GO:1903139":null}}


id: PATO:0002409
data:
  {"annotation_feature_type":"gene","cv_name":"quality","definition":"Bounded structure filled with fluid.","definition_xrefs":["PATOC:MPATH"],"direct_ancestors":[{"relation_name":"is_a","term_name":"structure, cavities","termid":"PATO:0002014"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"fluid-filled","termid":"PATO:0002409"}


id: PBO:0050089
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"high mobility group AT-hook 2","termid":"PBO:0050089"}


id: PBO:0034283
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-in_convergence_relationship_with","termid":"PBO:0034283"}


id: GO:0048263
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Determination of the identity of part of an organism or organ where those parts are of the type that occur in the dorsal region. Identity is considered to be the aggregate of characteristics by which a structure is recognized.","definition_xrefs":["GOC:jid"],"direct_ancestors":[{"relation_name":"is_a","term_name":"dorsal/ventral pattern formation","termid":"GO:0009953"},{"relation_name":"part_of","term_name":"determination of dorsal/ventral asymmetry","termid":"GO:0048262"}],"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":"determination of dorsal identity","synonyms":[{"name":"determination of adaxial identity","type":"related"}],"termid":"GO:0048263"}


id: PBO:0056638
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"MED14 opposite strand","termid":"PBO:0056638"}


id: PBO:0066493
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"ret finger protein like 4A pseudogene 4","termid":"PBO:0066493"}


id: PBO:0066743
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RN7SK pseudogene 40","termid":"PBO:0066743"}


id: MONDO:0009952
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).","definition_xrefs":["Orphanet:3270"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"syndromic intellectual disability","termid":"MONDO:0000508"},{"relation_name":"is_a","term_name":"congenital nervous system disorder","termid":"MONDO:0002320"},{"relation_name":"is_a","term_name":"developmental disability","termid":"MONDO:0005287"},{"relation_name":"is_a","term_name":"multiple congenital anomalies/dysmorphic syndrome-intellectual disability","termid":"MONDO:0015159"},{"relation_name":"is_a","term_name":"congenital radioulnar synostosis","termid":"MONDO:0017985"},{"relation_name":"is_a","term_name":"congenital limb malformation","termid":"MONDO:0019054"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0002320"},{"rel_name":"is_a","termid":"MONDO:0005497"}],"interesting_parent_ids":["MONDO:0002320","MONDO:0005497"],"is_obsolete":false,"name":"radioulnar synostosis-developmental delay-hypotonia syndrome","secondary_identifiers":["SCTID:721883006","MEDGEN:341460","GARD:1810","MESH:C538217","MESH:C564856","UMLS:C1849470","OMIM:266255"],"synonyms":[{"name":"Der Kaloustian-McIntosh-Silver syndrome","type":"exact"},{"name":"der Kaloustian mcintosh silver syndrome","type":"related"},{"name":"radioulnar synostosis with developmental delay and hypotonia syndrome","type":"exact"},{"name":"radioulnar synostosis, unilateral, with developintellectual disability and hypotonia","type":"related"},{"name":"radioulnar synostosis, unilateral, with developmental retardation and hypotonia","type":"related"},{"name":"unilateral radio-ulnar synostosis, generalised hypotonia, developintellectual disability, and a characteristic facial appearance","type":"related"},{"name":"unilateral radio-ulnar synostosis, generalised hypotonia, developmental retardation, and a characteristic facial appearance","type":"related"},{"name":"unilateral radio-ulnar synostosis, generalized hypotonia, developintellectual disability, and a characteristic facial appearance","type":"related"},{"name":"unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance","type":"related"}],"termid":"MONDO:0009952","xrefs":{"Monarch":{"xref_id":"0009952"}}}


id: GO:0021961
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Generation of a long process of a CNS neuron, that carries efferent (outgoing) action potentials from the cell body in the midbrain towards target cells in the diencephalon.","definition_xrefs":["GO_REF:0000021","GOC:dgh","GOC:dph","GOC:cls","GOC:jid"],"direct_ancestors":[{"relation_name":"is_a","term_name":"central nervous system projection neuron axonogenesis","termid":"GO:0021952"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"posterior commissure morphogenesis","termid":"GO:0021961"}


id: MONDO:0004046
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A brain meningioma that occurs during childhood.","definition_xrefs":["NCIT:P378"],"direct_ancestors":[{"relation_name":"is_a","term_name":"pediatric meningioma","termid":"MONDO:0003057"},{"relation_name":"is_a","term_name":"brain neoplasm","termid":"MONDO:0021211"},{"relation_name":"is_a","term_name":"intracranial meningioma","termid":"MONDO:0850302"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"childhood brain meningioma","secondary_identifiers":["UMLS:C1332949","DOID:6939","NCIT:C6253","MEDGEN:234122"],"synonyms":[{"name":"Brain meningioma","type":"exact"},{"name":"brain paediatric meningioma","type":"exact"},{"name":"brain pediatric meningioma","type":"exact"},{"name":"childhood meningioma of brain","type":"exact"},{"name":"childhood meningioma of the brain","type":"exact"},{"name":"paediatric brain meningioma","type":"exact"},{"name":"paediatric meningioma of brain","type":"exact"},{"name":"paediatric meningioma of the brain","type":"exact"},{"name":"pediatric brain meningioma","type":"exact"},{"name":"pediatric meningioma of brain","type":"exact"},{"name":"pediatric meningioma of the brain","type":"exact"}],"termid":"MONDO:0004046","xrefs":{"Monarch":{"xref_id":"0004046"}}}


id: GO:0003269
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 a receptor on the surface of a target cell, which contributes to the modulation of the frequency, rate or extent of cardioblast proliferation in the secondary heart field. A cardioblast is a cardiac precursor cell. It is a cell that has been committed to a cardiac fate, but will undergo more cell division rather than terminally differentiating.","definition_xrefs":["GOC:mtg_heart"],"gene_count":0,"genotype_count":0,"name":"obsolete BMP signaling pathway involved in regulation of secondary heart field cardioblast proliferation (obsolete GO:0003269)","synonyms":[{"name":"BMP signaling pathway involved in regulation of second heart field cardioblast proliferation","type":"exact"},{"name":"BMP signalling pathway involved in regulation of secondary heart field cardioblast proliferation","type":"exact"}],"termid":"GO:0003269"}


id: PR:Q9P7P8
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- SPAC186.07c gene.","definition_xrefs":["UniProtKB:Q9P7P8","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":"2-hydroxyacid dehydrogenase homolog 1 (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAC186.07c","synonyms":[{"name":"Spom972h-SPAC186.07c","type":"exact"}],"termid":"PR:Q9P7P8"}


id: MOD:00008
data:
  {"annotation_feature_type":"gene","cv_name":"PSI-MOD","definition":"Entry from Unimod representing one or more entries in RESID. OBSOLETE because organizational use is no longer required.","definition_xrefs":["PubMed:18688235"],"gene_count":0,"genotype_count":0,"name":"OBSOLETE MOD:00008 common (obsolete MOD:00008)","termid":"MOD:00008"}


id: PBO:0069312
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"RNA, U6 small nuclear 570, pseudogene","termid":"PBO:0069312"}


id: PR:Q9UT84
data:
  {"annotation_feature_type":"gene","cv_name":"protein","definition":"A protein that is a translation product of the Schizosaccharomyces pombe 972h- SPAC343.06c gene.","definition_xrefs":["PRO:DNx","UniProtKB:Q9UT84"],"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 scramblase family protein C343.06c (Schizosaccharomyces pombe 972h-)","pombase_gene_id":"SPAC343.06c","synonyms":[{"name":"Spom972h-SPAC343.06c","type":"exact"}],"termid":"PR:Q9UT84"}


id: PBO:0057559
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"microRNA 708","termid":"PBO:0057559"}


id: FYPO:0002431
data:
  {"annotation_feature_type":"genotype","cv_name":"fission_yeast_phenotype","definition":"OBSOLETE. A mixed population phenotype in which all cells in a population are inviable, and the population includes a mixture of germinated spores of abnormal shape and vegetative cells of abnormal shape. The vegetative cells arise from division of some of the germinated spores, and may form a microcolony of up to 64 cells.","definition_xrefs":["PomBase:vw","PomBase:mah"],"gene_count":0,"genotype_count":0,"name":"obsolete inviable mixed population including germinated spores with abnormal shape and cells with abnormal shape (obsolete FYPO:0002431)","termid":"FYPO:0002431"}


id: MONDO:0013308
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"CBL-related disorder is a genetic condition caused by pathogenic variants in the Cbl ubiquitin ligase gene, (CBL; HGNC:1541). Due to the proposed mechanism indicating the CBL gene's relationship to the RAS-MAPK pathway and the phenotypic presentation similar to that of the RASopathies, CBL-related disorder should be considered a RASopathy disorder. Though there is a wide spectrum of phenotypic variability, broadly, patients with CBL-related disorder have presented with developmental delay, intellectual disability, neurodevelopmental alterations, prenatal lymphatic anomalies, cardiac malformations as well as vascular anomalies particularly affecting the brain (e.g. Moya-moya arteriopathies), craniofacial features indicative of a RASopathy, hypotonia, feeding difficulties, edema of the legs, musculoskeletal and respiratory thorax abnormalities, ectodermal features including cafe-au-lait spots, immunological and hematological disorders and susceptibility to tumors diagnosed as juvenile myelomonocytic leukemia (JMML) that is usually self-remitting. Note tumor risk beyond JMML has not yet been thoroughly assessed. Due to the clinical presentation of a broad spectrum of these and other phenotypes in patients with variants in CBL, these conditions are currently defined by experts in reference to the causal gene, CBL.","definition_xrefs":["PMID:21901340","PMID:25358541","PMID:26911351","PMID:24458550","PMID:25952305","PMID:20619386","PMID:28343148","PMID:29259247","PMID:28414188","PMID:25283271","PMID:28589114"],"direct_ancestors":[{"relation_name":"is_a","term_name":"RASopathy","termid":"MONDO:0021060"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"CBL-related disorder","secondary_identifiers":["OMIM:613563","Orphanet:363972","GARD:17577","MEDGEN:462153","UMLS:C3150803"],"synonyms":[{"name":"CBL-related disorder","type":"exact"},{"name":"Cbl mutation-associated syndrome","type":"related"},{"name":"Cbl syndrome","type":"exact"},{"name":"NSLL","type":"related"},{"name":"Noonan syndrome-like disorder with JMML","type":"exact"},{"name":"Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia","type":"exact"},{"name":"Noonan syndrome-like disorder with juvenile myelomonocytic leukemia","type":"exact"},{"name":"Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia","type":"related"},{"name":"Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia","type":"related"},{"name":"Noonan-like syndrome","type":"exact"}],"termid":"MONDO:0013308","xrefs":{"Monarch":{"xref_id":"0013308"}}}


id: PBO:0044711
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"DEAD-box helicase 10 pseudogene 2","termid":"PBO:0044711"}


id: MONDO:0008666
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction.","definition_xrefs":["NCIT:C98961"],"direct_ancestors":[{"relation_name":"is_a","term_name":"hereditary disease","termid":"MONDO:0003847"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"volvulus of midgut","secondary_identifiers":["OMIM:193250","MEDGEN:113153","SCTID:458422009","MESH:C562456","UMLS:C0221210"],"synonyms":[{"name":"congenital malrotation of intestine","type":"exact"},{"name":"intestinal malrotation","type":"exact"},{"name":"intestinal malrotation, familial","type":"related"},{"name":"volvulus of midgut","type":"exact"}],"termid":"MONDO:0008666","xrefs":{"Monarch":{"xref_id":"0008666"}}}


id: MONDO:0004483
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A thyroid gland adenoma composed of large cells with abundant granular eosinophilic cytoplasm and large nuclei with prominent nucleoli.","definition_xrefs":["NCIT:C6042"],"direct_ancestors":[{"relation_name":"is_a","term_name":"oncocytic adenoma","termid":"MONDO:0003424"},{"relation_name":"is_a","term_name":"follicular thyroid adenoma","termid":"MONDO:0005032"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"thyroid gland oncocytic adenoma","secondary_identifiers":["UMLS:C1336750","MEDGEN:237009","DOID:8162","ONCOTREE:OAT"],"synonyms":[{"name":"Hurthle cell adenoma","type":"related"},{"name":"Hurthle cell adenoma of the thyroid","type":"related"},{"name":"Hurthle cell adenoma of the thyroid gland","type":"related"},{"name":"Hurthle cell adenoma of thyroid","type":"related"},{"name":"Hurthle cell adenoma of thyroid gland","type":"related"},{"name":"OAT","type":"broad"},{"name":"benign oncocytoma of the thyroid","type":"exact"},{"name":"benign oncocytoma of the thyroid gland","type":"related"},{"name":"benign oncocytoma of thyroid","type":"related"},{"name":"benign oncocytoma of thyroid gland","type":"related"},{"name":"benign thyroid gland oncocytoma","type":"related"},{"name":"benign thyroid oncocytoma","type":"related"},{"name":"follicular adenoma of the thyroid gland of the oxyphilic cell type","type":"related"},{"name":"follicular adenoma of the thyroid of the oxyphilic cell type","type":"related"},{"name":"follicular adenoma of thyroid gland of oxyphilic cell type","type":"related"},{"name":"follicular adenoma of thyroid of oxyphilic cell type","type":"related"},{"name":"oncocytic adenoma of the thyroid","type":"related"},{"name":"oncocytic adenoma of the thyroid gland","type":"related"},{"name":"oncocytic adenoma of thyroid","type":"related"},{"name":"oncocytic adenoma of thyroid gland","type":"related"},{"name":"thyroid Hurthle cell adenoma","type":"related"},{"name":"thyroid follicular adenoma of oxyphilic cell type","type":"related"},{"name":"thyroid follicular adenoma of the oxyphilic cell type","type":"related"},{"name":"thyroid gland Hurthle cell adenoma","type":"related"},{"name":"thyroid gland follicular adenoma of oxyphilic cell type","type":"related"},{"name":"thyroid gland follicular adenoma of the oxyphilic cell type","type":"related"},{"name":"thyroid gland oncocytic adenoma","type":"exact"},{"name":"thyroid oncocytic adenoma","type":"related"}],"termid":"MONDO:0004483","xrefs":{"Monarch":{"xref_id":"0004483"}}}


id: PBO:0083437
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Dubious open reading frame; unlikely to encode a functional protein, based on available experimental and comparative sequence data; partially overlaps the uncharacterized ORF YOL036W","termid":"PBO:0083437"}


id: PBO:0042660
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"CEA cell adhesion molecule 16, tectorial membrane component","termid":"PBO:0042660"}


id: MONDO:0044271
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete bone mineral density quantitative trait locus 1 (obsolete MONDO:0044271)","secondary_identifiers":["OMIM:601884"],"synonyms":[{"name":"BMND1","type":"related"},{"name":"bone mineral density quantitative trait locus 1","type":"related"},{"name":"bone mineral density variability 1","type":"exact"},{"name":"high bone Mass","type":"related"},{"name":"osteoporosis, susceptibility to","type":"related"}],"termid":"MONDO:0044271","xrefs":{"Monarch":{"xref_id":"0044271"}}}


id: GO:2000355
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that stops, prevents or reduces the frequency, rate or extent of ovarian follicle development.","definition_xrefs":["GOC:obol"],"direct_ancestors":[{"relation_name":"is_a","term_name":"negative regulation of developmental process","termid":"GO:0051093"},{"relation_name":"is_a","term_name":"regulation of ovarian follicle development","termid":"GO:2000354"},{"relation_name":"negatively_regulates","term_name":"ovarian follicle development","termid":"GO:0001541"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0008150"],"is_obsolete":false,"name":"negative regulation of ovarian follicle development","synonyms":[{"name":"negative regulation of follicular phase","type":"related"}],"termid":"GO:2000355"}


id: PBO:0026660
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-increased_viability_upon_inositol_starvation","termid":"PBO:0026660"}


id: MONDO:0017617
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"A acquired immunodeficiency that occurs in an adult.","definition_xrefs":["MONDO:patterns/adult"],"direct_ancestors":[{"relation_name":"is_a","term_name":"acquired immunodeficiency","termid":"MONDO:0017769"}],"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":"acquired adult-onset immunodeficiency","secondary_identifiers":["MEDGEN:1684214","Orphanet:306431","UMLS:C5191336","GARD:11992"],"synonyms":[{"name":"acquired immunodeficiency of adults","type":"exact"},{"name":"adult acquired immunodeficiency","type":"exact"},{"name":"adult onset immunodeficiency syndrome","type":"related"},{"name":"adult-onset immunodeficiency due to anti-interferon-gamma autoantibody","type":"related"},{"name":"adult-onset immunodeficiency with acquired Anti-interferon-gamma autoantibodies","type":"related"},{"name":"adult-onset immunodeficiency with anti-interferon-gamma autoantibodies","type":"exact"},{"name":"anti-IFN-gamma autoantibody syndrome","type":"related"}],"termid":"MONDO:0017617","xrefs":{"Monarch":{"xref_id":"0017617"}}}


id: PBO:0088853
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"plasma membrane TRP-like calcium ion channel Trp1322","termid":"PBO:0088853"}


id: PATO:0001376
data:
  {"annotation_feature_type":"gene","cv_name":"quality","definition":"A ploidy quality inhering in a bearer by virtue of the bearer's containing a single set of unique homologous chromosomes.","definition_xrefs":["Wikipedia:http://en.wikipedia.org/wiki/Monoploid"],"direct_ancestors":[{"relation_name":"is_a","term_name":"euploid","termid":"PATO:0001393"}],"gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"monoploid","termid":"PATO:0001376"}


id: PBO:0027549
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-normal_growth_on_non-fermentable_carbon_source","termid":"PBO:0027549"}


id: PBO:0006196
data:
  {"annotation_feature_type":"gene","cv_name":"cvterm_property_type","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"annotation_extension_relation-condition","termid":"PBO:0006196"}


id: GO:1904026
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"Any process that modulates the frequency, rate or extent of collagen fibril organization.","definition_xrefs":["GOC:TermGenie","PMID:25451920","GO_REF:0000058"],"direct_ancestors":[{"relation_name":"is_a","term_name":"regulation of extracellular matrix organization","termid":"GO:1903053"},{"relation_name":"regulates","term_name":"collagen fibril organization","termid":"GO:0030199"}],"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 collagen fibril organization","synonyms":[{"name":"regulation of collagen fibril organisation","type":"exact"},{"name":"regulation of collagen fibrillogenesis","type":"related"},{"name":"regulation of fibrillar collagen organization","type":"exact"}],"termid":"GO:1904026"}


id: PBO:0084590
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"Merged open reading frame; does not encode a discrete protein; YFL006W was originally annotated as an independent ORF, but as a result of a sequence change, it was merged with an adjacent ORF into a single reading frame, designated YFL007W","termid":"PBO:0084590"}


id: PBO:0088026
data:
  {"annotation_feature_type":"gene","cv_name":"PomBase gene products","gene_count":0,"genotype_count":0,"is_obsolete":false,"name":"U2-snRNP associated splicing factor; forms extensive associations with the branch site-3' splice site-3' exon region upon prespliceosome formation; similarity to the mammalian U2 snRNP-associated splicing factor SAP155","termid":"PBO:0088026"}


id: MONDO:0000560
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","gene_count":0,"genotype_count":0,"name":"obsolete spinocerebellar ataxia type 4 (obsolete MONDO:0000560)","termid":"MONDO:0000560","xrefs":{"Monarch":{"xref_id":"0000560"}}}


id: GO:0033512
data:
  {"annotation_feature_type":"gene","cv_name":"biological_process","definition":"The chemical reactions and pathways resulting in the breakdown of L-lysine into other compounds, including acetyl-CoA, via the intermediate saccharopine.","definition_xrefs":["MetaCyc:LYSINE-DEG1-PWY","GOC:mah"],"direct_ancestors":[{"relation_name":"is_a","term_name":"L-lysine catabolic process to acetyl-CoA","termid":"GO:0019474"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"GO:0044281"},{"rel_name":"is_a","termid":"GO:0006520"},{"rel_name":"is_a","termid":"GO:0006790"},{"rel_name":"is_a","termid":"GO:0055086"},{"rel_name":"is_a","termid":"GO:0008150"}],"interesting_parent_ids":["GO:0006520","GO:0044281","GO:0006790","GO:0055086","GO:0008150"],"is_obsolete":false,"name":"L-lysine catabolic process to acetyl-CoA via saccharopine","synonyms":[{"name":"L-lysine breakdown to acetyl-CoA via saccharopine","type":"exact"},{"name":"L-lysine degradation to acetyl-CoA via saccharopine","type":"exact"}],"termid":"GO:0033512"}


id: MONDO:0007564
data:
  {"annotation_feature_type":"gene","cv_name":"mondo","definition":"Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome.","definition_xrefs":["Orphanet:91414"],"direct_ancestors":[{"relation_name":"excluded_subClassOf","term_name":"obsolete rare skin tumor or hamartoma (obsolete MONDO:0019300)","termid":"MONDO:0019300"},{"relation_name":"is_a","term_name":"hair follicle neoplasm","termid":"MONDO:0003413"},{"relation_name":"is_a","term_name":"hereditary skin disorder","termid":"MONDO:0100118"}],"gene_count":0,"genotype_count":0,"interesting_parent_details":[{"rel_name":"is_a","termid":"MONDO:0005093"}],"interesting_parent_ids":["MONDO:0005093"],"is_obsolete":false,"name":"pilomatrixoma","secondary_identifiers":["EFO:0009082","UMLS:C0206711","icd11.foundation:378820295","DOID:5374","NCIT:C7368","OMIM:132600","MedDRA:10035040","MESH:D018296","MEDGEN:61666","SCTID:274901004","ICDO:8110/0","GARD:9452"],"synonyms":[{"name":"PTR","type":"related"},{"name":"benign hair follicle neoplasm","type":"narrow"},{"name":"benign pilomatricoma","type":"narrow"},{"name":"benign pilomatrixoma","type":"narrow"},{"name":"calcifying Epitherlioma of Malherbe","type":"exact"},{"name":"calcifying epithelioma of Malherbe","type":"related"},{"name":"epithelioma calcificans of Malherbe","type":"exact"},{"name":"pilomatricoma","type":"exact"},{"name":"pilomatricoma, somatic","type":"exact"},{"name":"pilomatrixoma","type":"exact"},{"name":"pilomatrixoma, benign","type":"exact"}],"termid":"MONDO:0007564","xrefs":{"Monarch":{"xref_id":"0007564"}}}


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


