About: autosomal recessive pyridoxine-refractory sideroblastic anemia 2

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About: autosomal recessive pyridoxine-refractory sideroblastic anemia 2 Goto Sponge NotDistinct Permalink

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

OMIM mapping confirmed by DO. [LS].

Attributes	Values
type	Class
subClassOf	autosomal recessive disease sideroblastic anemia nodeID://b50938175
label	autosomal recessive pyridoxine-refractory sideroblastic anemia 2
comment	OMIM mapping confirmed by DO. [LS].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060065
database_cross_reference	OMIM:205950
has_exact_synonym	pyridoxine-refractory autosomal recessive sideroblastic anaemia (en) autosomal recessive pyridoxine-refractory sideroblastic anaemia 2 (en) pyridoxine-refractory autosomal recessive sideroblastic anemia (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A sideroblastic anemia that is characterized by microcytic hypochromic anemia and iron overload, and has_material_basis_in autosomal recessive inheritance of mutation in the SLC25A38 gene.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50938176

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