Human Disease Ontology

Last uploaded: June 2, 2024
Jump to:
loading...
Preferred Name

hyperlysinemia
Synonyms
Definitions

OMIM mapping confirmed by DO. [SN].
ID

http://purl.obolibrary.org/obo/DOID_9274
comment

OMIM mapping confirmed by DO. [SN].
database_cross_reference

MESH:D020167

ICD10CM:E72.3

UMLS_CUI:C0268553

SNOMEDCT_US_2023_03_01:58558003

NCI:C123433

GARD:2828

MIM:238700

MIM:238710

ORDO:2203
definition

An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood.
has_obo_namespace

disease_ontology
id

DOID:9274
in_subset

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

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

hyperlysinemia
notation

DOID:9274
prefLabel

hyperlysinemia
subClassOf

http://purl.obolibrary.org/obo/DOID_9252
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_9274 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_9274 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_9274 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_9274 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_9274 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_9274 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009388 EFO LOOM
http://purl.obolibrary.org/obo/HP_0002161 MAXO LOOM
http://purl.obolibrary.org/obo/HP_0002161 OBA LOOM
http://purl.obolibrary.org/obo/MONDO_0009388 MONDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_3353 HRDO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10081312 MEDDRA LOOM
http://purl.obolibrary.org/obo/DOID_9274 CLO LOOM
http://purl.obolibrary.org/obo/DOID_9274 DTO LOOM
http://purl.obolibrary.org/obo/DOID_9274 BAO LOOM
http://purl.obolibrary.org/obo/DOID_9274 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_9274 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_9274 FNS-H LOOM
http://purl.obolibrary.org/obo/NCIT_C123433 BERO LOOM
http://www.gamuts.net/entity#hyperlysinemia GAMUTS LOOM
http://www.phoc.org.cn/pmo/class/PMO_00003782 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/LNC/LA12501-5 LOINC LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15089 DERMLEX LOOM
http://www.orpha.net/ORDO/Orphanet_2203 ORDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/58558003 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/OMIM_238700 CCO LOOM
http://purl.obolibrary.org/obo/HP_0002161 HP LOOM
http://purl.obolibrary.org/obo/HP_0002161 UPHENO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_9274 NATPRO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU047634 OMIM LOOM
http://purl.obolibrary.org/obo/MONDO_0009388 DOVES LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123433 NCIT LOOM
http://www.gamuts.net/entity#hyperlysinemia GAMUTS REST