About: Propionic Acidemia

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

Attributes	Values
rdf:type	Class
rdfs:label	Propionic Acidemia
rdfs:subClassOf	Organic Acid Metabolism Disorder
Has_NICHD_Parent	Organic Acid Metabolism Disorder Autosomal Recessive Inherited Disorder
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Propionic Acidemia
UMLS_CUI	C0268579
Contributing_Source	NICHD
FULL_SYN	Propionic AcidemiaPTNCI Propionic AcidemiaPTNICHD
DEFINITION	A rare autosomal inherited organic acid disorder caused by mutations in the PCCA and PCCB genes. It results in the accumulation of harmful organic acids in the blood and urine. Signs and symptoms appear in infancy and include vomiting, poor feeding, loss of appetite, hypotonia, and lethargy.NCI
code	C85030
http://linked.open...y/mesh/hasConcept	http://linked.opendata.cz/resource/mesh/concept/M0528609
is sameAs of	Propionic Acidemia

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