pyruvate carboxylase deficiency disease
http://purl.obolibrary.org/obo/MONDO_0009949
Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients. [ Orphanet:3008 ]
Term info
- GARD:0007512 (MONDO:equivalentTo)
- SCTID:87694001 (MONDO:equivalentTo)
- DOID:3651 (MONDO:equivalentTo)
- ICD9:277.89 (MONDO:relatedTo)
- UMLS:CN203409 (MONDO:equivalentTo)
- OMIM:266150 (Orphanet:3008/e)
- NCIT:C85040 (MONDO:equivalentTo)
- UMLS:C0034341 (Orphanet:3008/e)
- EFO:1001142 (MONDO:equivalentTo)
- Orphanet:3008 (OMIM:266150)
- UMLS:C2931141 (Orphanet:3008)
- MESH:D015324 (Orphanet:3008/e)
ordo_disease
https://github.com/monarch-initiative/mondo/issues/4985
Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.
http://identifiers.org/snomedct/87694001, http://identifiers.org/mesh/D015324, http://linkedlifedata.com/resource/umls/id/CN203409, http://linkedlifedata.com/resource/umls/id/C0034341, http://purl.obolibrary.org/obo/DOID_3651, http://purl.obolibrary.org/obo/Orphanet_3008, http://purl.obolibrary.org/obo/NCIT_C85040, http://linkedlifedata.com/resource/umls/id/C2931141, https://omim.org/entry/266150
Leigh syndrome due to pyruvate carboxylase deficiency, Leigh syndrome due to PC deficiency, ataxia with lactic acidosis type 2, pyruvate carboxylase deficiency disease, Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency, ataxia with lactic acidosis type II, deficiency of pyruvic carboxylase
ataxia with lactic acidosis 2, pyruvate carboxylase deficiency, Pc deficiency
MONDO:0009949