Human Disease Ontology 123

Last uploaded: September 28, 2023
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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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http://purl.bioontology.org/ontology/ICD10CM/E70.21 International Classification of Diseases, Version 10 - Clinical Modification LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C98640 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU037988 Online Mendelian Inheritance in Man LOOM