About: GRACILE syndrome

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal recessive disease mitochondrial metabolism disease nodeID://b50944843
label	GRACILE syndrome
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111455
database_cross_reference	GARD:1 MESH:C537934 OMIM:603358 ORDO:53693 SNOMEDCT_US_2021_09_01:703388005 UMLS_CUI:C1864002
has_exact_synonym	growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death (en) growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome (en) FLNMS (en) Fellman disease (en) Finnish lactic acidosis with hepatic hemosiderosis (en) Finnish lethal neonatal metabolic syndrome (en) growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	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 BCS1L on chromosome 2q35.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50944844

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