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ID DOID:0080759
Name Fanconi renotubular syndrome 3
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/
Xrefs

OMIM:615605

Parent Relationships

is_a Fanconi syndrome

is_a autosomal dominant disease

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