About: S-Beta Thalassemia

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About: S-Beta Thalassemia Goto Sponge NotDistinct Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	Class
rdfs:label	S-Beta Thalassemia
rdfs:subClassOf	Thalassemia nodeID://b709510
Has_NICHD_Parent	Thalassemia
Concept_In_Subset	NICHD Terminology NICHD Newborn Screening Terminology NICHD Pediatric Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	S-Beta Thalassemia
UMLS_CUI	C2825560
Contributing_Source	NICHD
Legacy_Concept_Name	S-Beta_Thalassemia
FULL_SYN	S-Beta ThalassemiaPTNCI S-Beta ThalassemiaPTNICHD
DEFINITION	A disorder characterized by the body's inability to synthesize beta-globin chains, leading to the formation of abnormal hemoglobin and anemia. This inherited autosomal recessive blood disorder is caused by germline mutation of the HBB gene.NCI
code	C81288
is someValuesFrom of	nodeID://b677883 nodeID://b677888 nodeID://b677893 nodeID://b677895

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