Human Disease Ontology

Last uploaded: November 27, 2024
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Preferred Name

homocystinuria
Synonyms

cystathionine beta synthase deficiency

CBS deficiency

cystathionine synthase deficiency
Definitions

An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. Xref MGI.
ID

http://purl.obolibrary.org/obo/DOID_9263
comment

Xref MGI.
database_cross_reference

ICD10CM:E72.11

SNOMEDCT_US_2023_03_01:190709008

MESH:D006712

UMLS_CUI:C0019880

GARD:10770

MIM:236200

MIM:236250

NCI:C84765

ORDO:394
definition

An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine.
has exact synonym

cystathionine beta synthase deficiency

CBS deficiency

cystathionine synthase deficiency
has_obo_namespace

disease_ontology
id

DOID:9263
in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim
label

homocystinuria
notation

DOID:9263
prefLabel

homocystinuria
subClassOf

http://purl.obolibrary.org/obo/DOID_9252
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_9263 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_9263 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_9263 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_9263 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_9263 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_9263 FNS-H SAME_URI
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
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 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
http://www.gamuts.net/entity#homocystinuria GAMUTS REST