Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

Homocystinuria
Synonyms
ID

http://purl.bioontology.org/ontology/OMIM/MTHU037510
cui

C0019880
Manifestation of

http://purl.bioontology.org/ontology/OMIM/250940

http://purl.bioontology.org/ontology/OMIM/277410

http://purl.bioontology.org/ontology/OMIM/236250

http://purl.bioontology.org/ontology/OMIM/614857

http://purl.bioontology.org/ontology/OMIM/277400

http://purl.bioontology.org/ontology/OMIM/236270

http://purl.bioontology.org/ontology/OMIM/236200

http://purl.bioontology.org/ontology/OMIM/309541

http://purl.bioontology.org/ontology/OMIM/277380
notation

MTHU037510
prefLabel

Homocystinuria
tui

T047
subClassOf

http://purl.bioontology.org/ontology/OMIM/MTHU000012
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Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRFRE/10020365 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10020365 MEDDRA CUI
http://purl.bioontology.org/ontology/ICPC2P/T99073 ICPC2P CUI
http://purl.bioontology.org/ontology/RCD/C3043 RCD CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001552 NDFRT CUI
http://purl.bioontology.org/ontology/CSP/1849-0835 CRISP CUI
http://purl.bioontology.org/ontology/MSHFRE/D006712 MSHFRE CUI
http://purl.bioontology.org/ontology/MESH/D006712 MESH CUI
http://purl.bioontology.org/ontology/LNC/LA12496-8 LOINC CUI
http://purl.bioontology.org/ontology/SNOMEDCT/11282001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D6-B4100 SNMI CUI
http://purl.bioontology.org/ontology/MDRGER/10020365 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/11282001 SCTSPA CUI
http://purl.bioontology.org/ontology/ICD10CM/E72.11 ICD10CM CUI
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
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/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