Matches in Ubergraph for { <http://purl.obolibrary.org/obo/MONDO_0018251> ?p ?o ?g. }
Showing items 1 to 46 of
46
with 100 items per page.
- MONDO_0018251 IAO_0000115 "OBSOLETE. A group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency." @default.
- MONDO_0018251 IAO_0000231 OMO_0001000 @default.
- MONDO_0018251 IAO_0000233 "https://github.com/monarch-initiative/mondo/issues/3886" @default.
- MONDO_0018251 normalizedInformationContent "100" @default.
- MONDO_0018251 referenceCount "1" @default.
- MONDO_0018251 consider "MONDO:0002412" @default.
- MONDO_0018251 hasDbXref "DOID:0050594" @default.
- MONDO_0018251 hasDbXref "GARD:18691" @default.
- MONDO_0018251 hasDbXref "MESH:C580130" @default.
- MONDO_0018251 hasDbXref "NCIT:C122662" @default.
- MONDO_0018251 hasDbXref "Orphanet:370" @default.
- MONDO_0018251 hasDbXref "SCTID:235908005" @default.
- MONDO_0018251 hasDbXref "SCTID:40191005" @default.
- MONDO_0018251 hasDbXref "UMLS:C0268147" @default.
- MONDO_0018251 hasExactSynonym "GSD IX" @default.
- MONDO_0018251 hasExactSynonym "GSD due to phosphorylase kinase deficiency" @default.
- MONDO_0018251 hasExactSynonym "GSD type 9" @default.
- MONDO_0018251 hasExactSynonym "GSD type IX" @default.
- MONDO_0018251 hasExactSynonym "GSDIX" @default.
- MONDO_0018251 hasExactSynonym "glycogen storage disease IX" @default.
- MONDO_0018251 hasExactSynonym "glycogen storage disease due to PhK deficiency" @default.
- MONDO_0018251 hasExactSynonym "glycogen storage disease type 9" @default.
- MONDO_0018251 hasExactSynonym "glycogen storage disease type IX" @default.
- MONDO_0018251 hasExactSynonym "glycogenosis due to phosphorylase kinase deficiency" @default.
- MONDO_0018251 hasExactSynonym "glycogenosis type 9" @default.
- MONDO_0018251 hasExactSynonym "glycogenosis type IX" @default.
- MONDO_0018251 hasExactSynonym "gycogenosis due to PhK deficiency" @default.
- MONDO_0018251 hasExactSynonym "phosphorylase kinase deficiency" @default.
- MONDO_0018251 id "MONDO:0018251" @default.
- MONDO_0018251 inSubset gard_rare @default.
- MONDO_0018251 inSubset ordo_group_of_disorders @default.
- MONDO_0018251 inSubset rare @default.
- MONDO_0018251 type Class @default.
- MONDO_0018251 comment "Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Term to consider: glycogen storage disease'" @default.
- MONDO_0018251 isDefinedBy mondo.owl @default.
- MONDO_0018251 label "obsolete glycogen storage disease due to phosphorylase kinase deficiency" @default.
- MONDO_0018251 subClassOf MONDO_0018251 @default.
- MONDO_0018251 subClassOf Thing @default.
- MONDO_0018251 deprecated "true" @default.
- MONDO_0018251 exactMatch NCIT_C122662 @default.
- MONDO_0018251 exactMatch C580130 @default.
- MONDO_0018251 exactMatch 235908005 @default.
- MONDO_0018251 exactMatch 40191005 @default.
- MONDO_0018251 exactMatch C0268147 @default.
- MONDO_0018251 exactMatch DOID_0050594 @default.
- MONDO_0018251 exactMatch Orphanet_370 @default.