National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
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Preferred Name

Homocystinuria
Synonyms

Homocystinuria
Definitions

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.
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84765
code

C84765
Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147
Contributing_Source

Cellosaurus

NICHD
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.
FULL_SYN

Homocystinuria
label

Homocystinuria
Preferred_Name

Homocystinuria
prefixIRI

Thesaurus:C84765
Related_To_Genetic_Biomarker

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C105126

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C104946

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18500

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C129049
Semantic_Type

Disease or Syndrome
UMLS_CUI

C3806789
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97090

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543
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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://www.owl-ontologies.com/Ontology1358660052.owl#Homocystinuria PEDTERM 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
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http://purl.obolibrary.org/obo/DERMO_0000533 DERMO LOOM
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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
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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://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