Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

hyperlysinemia

Definitions

An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood. OMIM mapping confirmed by DO. [SN].

ID

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

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

OMIM:238710

GARD:2828

SNOMEDCT_US_2022_09_01:58558003

MESH:D020167

NCI:C123433

ORDO:2203

OMIM:238700

UMLS_CUI:C0268553

ICD10CM:E72.3

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#DO_rare_slim

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

label

hyperlysinemia

notation

DOID:9274

prefLabel

hyperlysinemia

subClassOf

http://purl.obolibrary.org/obo/DOID_9252

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/MTHU047634 Online Mendelian Inheritance in Man LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123433 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/LNC/LA12501-5 Logical Observation Identifier Names and Codes LOOM