Fanconi renotubular syndrome 3

Term ID

DOID:0080759

Synonyms

Definition

A Fanconi syndrome that is characterized by characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria and that has_material_basis_in heterozygous mutation in the EHHADH gene on chromosome 3q27. https://pubmed.ncbi.nlm.nih.gov/24401050/

References

• OMIM:615605

Ontology

Human Disease   ( DOID:0080759 )