Pediatric Terminology

Last uploaded: January 25, 2013
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Preferred Name

Biotinidase_Deficiency
Synonyms
ID

http://www.owl-ontologies.com/Ontology1358660052.owl#Biotinidase_Deficiency
ID

C84598
NCI_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_PT

Biotinidase Deficiency
NICHD_Definition

_
prefixIRI

Biotinidase_Deficiency
prefLabel

Biotinidase_Deficiency
Subset_Association1

NICHD Pediatric Terminology

Subset_Association2

Neonatal Research Network Terminology
SYN

subClassOf

http://www.owl-ontologies.com/Ontology1358660052.owl#Autosomal_Recessive_Hereditary_Disorder
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http://identifiers.org/omim/253260 REXO LOOM
http://identifiers.org/omim/253260 GEXO LOOM
http://identifiers.org/omim/253260 RETO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.100.620.100 RH-MESH LOOM
http://id.nlm.nih.gov/mesh/D028921 MDM LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_856 NATPRO LOOM
http://purl.obolibrary.org/obo/DERMO_0000520 DERMO LOOM
http://purl.obolibrary.org/obo/OMIM_253260 CCO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#21183 OCHV LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D028921 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_11267 HRDO LOOM
http://purl.bioontology.org/ontology/SNMI/D6-B2230 SNMI LOOM
http://purl.bioontology.org/ontology/OMIM/253260 OMIM LOOM
http://purl.obolibrary.org/obo/NCIT_C84598 BERO LOOM
http://purl.bioontology.org/ontology/LNC/LA12532-0 LOINC LOOM
http://purl.bioontology.org/ontology/ICD10CM/D81.810 ICD10CM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.202.720.100 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU011117 OMIM LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15069 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.100.620.100 RH-MESH LOOM
http://purl.jp/bio/4/id/200906064227205932 IOBC LOOM
rgo:26325 GAMUTS LOOM
http://purl.bioontology.org/ontology/MEDDRA/10071434 MEDDRA LOOM
http://nanbyodata.jp/ontology/NANDO_1200822 NANDO LOOM
http://purl.bioontology.org/ontology/LNC/LP56771-6 LOINC LOOM
http://purl.bioontology.org/ontology/MESH/D028921 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.202.720.100 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84598 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Biotinidase_Deficiency CSEO LOOM
http://purl.obolibrary.org/obo/DOID_856 CLO LOOM
http://purl.obolibrary.org/obo/DOID_856 DOID LOOM
http://purl.obolibrary.org/obo/DOID_856 BAO LOOM
http://purl.obolibrary.org/obo/DOID_856 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_856 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_856 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_856 FNS-H LOOM
http://purl.obolibrary.org/obo/MONDO_0009665 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0009665 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0009665 DOVES LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/8808004 SNOMEDCT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0220754 OCHV LOOM
http://purl.bioontology.org/ontology/RCD/X40TG RCD LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036671 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/LNC/MTHU021599 LOINC LOOM
http://www.orpha.net/ORDO/Orphanet_79241 ORDO LOOM
http://purl.obolibrary.org/obo/OMIT_0021476 OMIT LOOM