About: Transferase Deficiency Galactosemia

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About: Transferase Deficiency Galactosemia 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	Transferase Deficiency Galactosemia
rdfs:subClassOf	Galactosemias
Has_NICHD_Parent	Metabolism, Inborn Errors
Concept_In_Subset	NICHD Terminology NICHD Newborn Screening Terminology NICHD Pediatric Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Transferase Deficiency Galactosemia
UMLS_CUI	C0268151
Contributing_Source	NICHD
Legacy_Concept_Name	Transferase_Deficient_Galactosemia
FULL_SYN	Transferase-deficient GalactosemiaSYNCI Transferase Deficiency GalactosemiaPTNCI Transferase Deficient GalactosemiaPTNICHD
DEFINITION	A disorder characterized by the body's inability to metabolize galactose. This type of galactosemia is caused by germline mutations in the GALT gene which leads to the inhibition in the activity of the enzyme galactose-1-phosphate uridyl transferase.NCI
code	C81325
http://linked.open...y/mesh/hasConcept	http://linked.opendata.cz/resource/mesh/concept/M0335205

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