ZFIN Human Disease: GRACILE syndrome

OBO ID: DOID:0111455

Term Name:	GRACILE syndrome		Search Ontology:
Synonyms:	Fellman disease Finnish lactic acidosis with hepatic hemosiderosis Finnish lethal neonatal metabolic syndrome FLNMS growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death
Definition:	A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. (2)
References:	GARD:1 MESH:C537934 OMIM:603358 ORDO:53693 SNOMEDCT_US_2023_03_01:703388005 UMLS_CUI:C1864002
Ontology:	Human Disease ( DOID:0111455 )

Relationships

is a type of:	autosomal recessive disease mitochondrial metabolism disease autosomal recessive disease mitochondrial metabolism disease Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
BCS1L	bcs1l	GRACILE syndrome	603358

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None