Combined oxidative phosphorylation deficiency 21

Preferred Label : Combined oxidative phosphorylation deficiency 21;

Symbol : COXPD21;

CISMeF acronym : COXPD21;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the threonyl-tRNA synthetase 2 gene (TARS2, 612805.0001);

Laboratory abnormalities : Increased serum lactate;

Prefixed ID : #615918;

Details

Origin ID

615918;

UMLS CUI

C4706316;

CISMeF manual mappings
- Combined oxidative phosphorylation defect type 21 [ORDO Disease]
Currated CISMeF NLP mapping
- Combined oxidative phosphorylation defect type 21 (disorder) [SNOMED CT concept]
- combined oxidative phosphorylation deficiency 21 [DO Concept]
DO Cross reference
- combined oxidative phosphorylation deficiency 21 [DO Concept]
Genes related to phenotype
- Threonyl-trna synthetase 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Congenital onset [HPO term]
- Global developmental delay [HPO term]
- Hepatic steatosis [HPO term]
- Hyperalaninemia [HPO term]
- Hyperprolinemia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Increased cerebral lipofuscin [HPO term]
- Increased serum lactate [HPO term]
- Infantile onset [HPO term]
- Limb hypertonia [HPO term]
- Neonatal death [HPO term]
- Poor eye contact [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Combined oxidative phosphorylation defect type 21 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined oxidative phosphorylation defect type 21 [ORDO Disease]
- Combined oxidative phosphorylation defect type 21 (disorder) [SNOMED CT concept]

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