BioAssay Ontology / 生物活性分析本体

Last uploaded: September 7, 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

MESH:D020167

NCI:C123433

ORDO:2203

OMIM:238700

SNOMEDCT_US_2020_03_01:58558003

UMLS_CUI:C0268553

ICD10CM:E72.3

id

DOID:9274

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_rare_slim

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

label

hyperlysinemia

notation

DOID:9274

prefLabel

hyperlysinemia

textual definition

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

引自

http://purl.obolibrary.org/obo/doid.owl

有_obo_命名空间

disease_ontology

subClassOf

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

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