Preferred Label : YARSopathy;
NCIt definition : An autosomal recessive condition caused by mutation(s) in the YARS gene encoding tyrosine-tRNA
ligase. It is characterized by a variable phenotype which may include poor growth,
developmental delay, abnormal brain white matter, hearing loss, involuntary eye movements,
progressive cholestatic liver disease, pancreatic insufficiency, hypoglycemia, anemia,
intermittent excess of protein in urine, recurrent bloodstream infections, and chronic
pulmonary disease.;
NCI Metathesaurus CUI : CL1642682;
Origin ID : C176704;
UMLS CUI : C5447388;
Semantic type(s)
- concept_is_in_subset
- disease_has_finding
- related_to_genetic_biomarker
