PubMed:12480927 / 179-223
Annnotations
NGLY1-deficiency
{"project":"NGLY1-deficiency","denotations":[{"id":"PD-NGLY1-deficiency-B_T5","span":{"begin":0,"end":44},"obj":"omim:615273"}],"namespaces":[{"prefix":"hgnc","uri":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:"},{"prefix":"omim","uri":"https://www.omim.org/entry/"},{"prefix":"chem","uri":"https://pubchem.ncbi.nlm.nih.gov/compound/"}],"text":"type I congenital disorders of glycosylation"}
DisGeNET5_gene_disease
{"project":"DisGeNET5_gene_disease","denotations":[{"id":"12480927-1#32#69#diseaseC0282577","span":{"begin":7,"end":44},"obj":"diseaseC0282577"}],"text":"type I congenital disorders of glycosylation"}
DisGeNET
{"project":"DisGeNET","denotations":[{"id":"T1","span":{"begin":7,"end":44},"obj":"disease:C0282577"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"type I congenital disorders of glycosylation"}
mondo_disease
{"project":"mondo_disease","denotations":[{"id":"T2","span":{"begin":7,"end":44},"obj":"Disease"}],"attributes":[{"id":"A2","pred":"mondo_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/MONDO_0015286"}],"text":"type I congenital disorders of glycosylation"}
CL-cell
{"project":"CL-cell","denotations":[{"id":"T1","span":{"begin":0,"end":6},"obj":"Cell"}],"attributes":[{"id":"A1","pred":"cl_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/CL:0004120"},{"id":"A2","pred":"cl_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/CL:0004138"}],"text":"type I congenital disorders of glycosylation"}