About: Biotinidase Deficiency

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An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

Attributes	Values
rdf:type	Class
rdfs:label	Biotinidase Deficiency
rdfs:subClassOf	Metabolism, Inborn Errors Rare Non-Neoplastic Disorder
Has_NICHD_Parent	Enzyme Deficiency Autosomal Recessive Inherited Disorder
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Biotinidase Deficiency
UMLS_CUI	C0220754
Contributing_Source	NICHD
FULL_SYN	Biotinidase DeficiencyPTNCI Biotinidase DeficiencyPTNICHD
DEFINITION	A genetic disorder caused by mutations in the BTD gene. It is characterized by reduced or absent activity of the enzyme biotinidase which is responsible for the recycling of the vitamin biotin. Signs and symptoms appear in childhood and include seizures, hypotonia and developmental delays. If left untreated, it leads to vision and hearing loss, infections, alopecia and ataxia.NCI
code	C84598
http://linked.open...y/mesh/hasConcept	http://linked.opendata.cz/resource/mesh/concept/M0381891
is sameAs of	Biotinidase Deficiency

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