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pyruvate dehydrogenase deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0019169

Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency. [ Orphanet : 765 ]

This is just here as a test because I lose it

Term information

database cross reference
  • OMIMPS:312170 (MONDO:equivalentTo)
  • ICD9:277.89 (MONDO:relatedTo)
  • DOID:3649 (MONDO:equivalentTo)
  • SCTID:46683007 (MONDO:equivalentTo)
  • Orphanet:765 (MONDO:equivalentTo)
  • GARD:0007513 (MONDO:equivalentTo)
  • NCIT:C103968 (MONDO:equivalentTo)
  • EFO:0007459 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
PDHC [ Orphanet : 765 ]
abbreviation
PDH [ Orphanet : 765 ]
conformsTo
  • http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml
definition
  • Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency.
exactMatch
  • http://purl.obolibrary.org/obo/NCIT_C103968
  • http://www.orpha.net/ORDO/Orphanet_765
  • https://omim.org/phenotypicSeries/PS312170
  • http://identifiers.org/snomedct/46683007
  • http://purl.obolibrary.org/obo/DOID_3649
has exact synonym
  • PDHC
  • deficiency of pyruvic dehydrogenase
  • pyruvate decarboxylase deficiency
  • PDH
  • pyruvate dehydrogenase complex deficiency
  • pyruvate dehydrogenase deficiency
  • pyruvate dehydrogenase complex deficiency disease
id
  • MONDO:0019169
should conform to
  • http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml