Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

tyrosinemia

Definitions

OMIM mapping submitted by NeuroDevNet. [LS]. An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine.

ID

http://purl.obolibrary.org/obo/DOID_9275

comment

OMIM mapping submitted by NeuroDevNet. [LS].

database_cross_reference

SNOMEDCT_US_2022_09_01:190694001

ICD10CM:E70.21

UMLS_CUI:C0268483

definition

An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine.

has_obo_namespace

disease_ontology

id

DOID:9275

in_subset

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

label

tyrosinemia

notation

DOID:9275

prefLabel

tyrosinemia

subClassOf

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

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