Pediatric Terminology

Last uploaded: January 25, 2013
Jump to:
loading...
Preferred Name

Homocystinuria
Synonyms
ID

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

C84765
NCI_Definition

An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems.
NCI_PT

Homocystinuria
NICHD_Definition

_
prefixIRI

Homocystinuria
prefLabel

Homocystinuria
Subset_Association1

NICHD Pediatric Terminology

Subset_Association2

Neonatal Research Network Terminology
SYN

subClassOf

http://www.owl-ontologies.com/Ontology1358660052.owl#Amino_Acid_Metabolism_Disorder
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_9263 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0004737 OBA LOOM
http://purl.obolibrary.org/obo/MONDO_0004737 MONDO LOOM
http://purl.jp/bio/4/id/200906068614086270 IOBC LOOM
http://pat.nichd.nih.gov/maternalconditions/C0019880 PATMHC LOOM
http://purl.bioontology.org/ontology/MEDDRA/10020365 MEDDRA LOOM
http://www.ustb.edu.cn/thesauri/tocr/v1/data#C571342296272859282 ACVD_ONTOLOGY LOOM
http://purl.bioontology.org/ontology/ICPC2P/T99073 ICPC2P LOOM
http://purl.obolibrary.org/obo/MONDO_0004737 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0004737 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0004737 DOVES LOOM
http://purl.obolibrary.org/obo/NCIT_C84765 BERO LOOM
http://purl.bioontology.org/ontology/RCD/C3043 RCD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.365 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.300.428 RH-MESH LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_9263 NATPRO LOOM
http://purl.obolibrary.org/obo/DERMO_0000533 DERMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.100.480.500 RH-MESH LOOM
http://purl.bioontology.org/ontology/CSP/1849-0835 CRISP LOOM
http://purl.bioontology.org/ontology/MESH/D006712 MESH LOOM
http://purl.obolibrary.org/obo/HP_0002156 CCONT LOOM
http://purl.obolibrary.org/obo/HP_0002156 EFO LOOM
http://purl.obolibrary.org/obo/HP_0002156 HP LOOM
http://purl.obolibrary.org/obo/HP_0002156 UPHENO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.365 RH-MESH LOOM
rgo:09479 GAMUTS LOOM
http://purl.bioontology.org/ontology/RCTV2/C304300 RCTV2 LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0019880 OCHV LOOM
http://purl.obolibrary.org/obo/DOID_9263 CLO LOOM
http://purl.obolibrary.org/obo/DOID_9263 DOID LOOM
http://purl.obolibrary.org/obo/DOID_9263 BAO LOOM
http://purl.obolibrary.org/obo/DOID_9263 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_9263 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_9263 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_9263 FNS-H LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84765 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.365 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.100.480.500 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D006712 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU037510 OMIM LOOM
http://purl.bioontology.org/ontology/LNC/LA12496-8 LOINC LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_0329a272_4a4f_47c1_9837_e7257dde0b42 STO-DRAFT LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_0329a272_4a4f_47c1_9837_e7257dde0b42 CVAO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/11282001 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/OMIT_0007857 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.365 RH-MESH LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15087 DERMLEX LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Homocystinuria CSEO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#6228 OCHV LOOM
http://nanbyodata.jp/ontology/NANDO_1201038 NANDO LOOM
http://purl.bioontology.org/ontology/ICD10CM/E72.11 ICD10CM LOOM
http://nanbyodata.jp/ontology/NANDO_2200474 NANDO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00085276 PMAPP-PMO LOOM