ZFIN Human Disease: Fanconi renotubular syndrome 5

OBO ID: DOID:0080761

Term Name:	Fanconi renotubular syndrome 5		Search Ontology:
Synonyms:	Acadian-variant Fanconi syndrome
Definition:	A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has_material_basis_in homozygous mutation in the NDUFAF6 gene on chromosome 8q22. https://pubmed.ncbi.nlm.nih.gov/27466185/
References:	OMIM:618913
Ontology:	Human Disease ( DOID:0080761 )

Relationships

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

OTHER Fanconi renotubular syndrome 5 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NDUFAF6	ndufaf6	Fanconi renotubular syndrome 5	618913

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None