obsolete glycogen storage disease due to phosphorylase kinase deficiency

http://purl.obolibrary.org/obo/MONDO_0018251

This term is obsolete

Consider

MONDO:0002412

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. [ Orphanet:370 ]

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Term history

Term info

database cross reference

SCTID:235908005 (MONDO:obsoleteEquivalent)
MESH:C580130 (MONDO:obsoleteEquivalent)
Orphanet:370 (MONDO:obsoleteEquivalent)
SCTID:40191005 (MONDO:obsoleteEquivalent)
UMLS:C0268147 (Orphanet:370/e)
NCIT:C122662 (MONDO:obsoleteEquivalent)
DOID:0050594 (MONDO:obsoleteEquivalent)

Subsets

ordo_group_of_disorders

abbreviation

GSDIX [ https://www.ncbi.nlm.nih.gov/books/NBK55061/ ]

IAO 0000231

out of scope

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/3886

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'

consider

MONDO:0002412

definition

exactMatch

http://purl.obolibrary.org/obo/NCIT_C122662, http://identifiers.org/mesh/C580130, http://identifiers.org/snomedct/40191005, http://purl.obolibrary.org/obo/DOID_0050594, http://purl.obolibrary.org/obo/Orphanet_370, http://linkedlifedata.com/resource/umls/id/C0268147, http://identifiers.org/snomedct/235908005

has exact synonym

phosphorylase kinase deficiency, glycogen storage disease due to PhK deficiency, GSD due to phosphorylase kinase deficiency, glycogen storage disease type 9, GSDIX, glycogen storage disease IX, GSD type 9, GSD IX, glycogenosis type IX, gycogenosis due to PhK deficiency, glycogen storage disease type IX, GSD type IX, glycogenosis type 9, glycogenosis due to phosphorylase kinase deficiency

MONDO:0018251

Term relations

Subclass of:

Thing