ZFIN Human Disease: Fanconi renotubular syndrome 3

OBO ID: DOID:0080759

Term Name:	Fanconi renotubular syndrome 3		Search Ontology:
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 )

Relationships

is a type of:	autosomal dominant disease Fanconi syndrome autosomal dominant disease Fanconi syndrome Show first 5 Terms

OTHER Fanconi renotubular syndrome 3 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
EHHADH	ehhadh	?Fanconi renotubular syndrome 3	615605

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None