Health_ontology

Last uploaded: July 4, 2024
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Preferred Name

galactosemia
Synonyms

Galactosaemia

Galactose intolerance
Definitions

A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. OMIM mapping by NeuroDevNet. [LS].
ID

http://purl.obolibrary.org/obo/DOID_9870
comment

OMIM mapping by NeuroDevNet. [LS].
alternative label

Galactosaemia

Galactose intolerance
database_cross_reference

ICD9CM:271.1

ICD10CM:E74.21

UMLS_CUI:C0016952

MESH:D005693

SNOMEDCT_US_2023_03_01:38177000

GARD:2424

NCI:C84723
definition

A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.
has exact synonym

Galactosaemia

Galactose intolerance
has_obo_namespace

disease_ontology
id

DOID:9870
in_subset

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

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

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

galactosemia
notation

DOID:9870
prefLabel

galactosemia
subClassOf

http://purl.obolibrary.org/obo/DOID_2978
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_9870 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_9870 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_9870 DOID SAME_URI
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http://purl.obolibrary.org/obo/DOID_9870 NIFSTD SAME_URI
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http://purl.bioontology.org/ontology/ICD10CM/E74.21 NLMVS LOOM
http://purl.bioontology.org/ontology/ICD10CM/E74.21 ICD10CM LOOM
http://www.limics.org/hrdo/rdfns#pat_id_355 HRDO LOOM
http://www.orpha.net/ORDO/Orphanet_352 ORDO LOOM
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http://sbmi.uth.tmc.edu/ontology/ochv#C0016952 OCHV LOOM
http://purl.bioontology.org/ontology/MEDDRA/10017610 MEDDRA LOOM
http://pat.nichd.nih.gov/maternalconditions/C0016952 PATMHC LOOM
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http://purl.obolibrary.org/obo/MONDO_0018116 EFO LOOM
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http://purl.obolibrary.org/obo/MONDO_0018116 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0018116 KTAO LOOM
http://purl.jp/bio/4/id/200906026969270736 IOBC LOOM
http://identifiers.org/omim/230400 REXO LOOM
http://identifiers.org/omim/230400 GEXO LOOM
http://identifiers.org/omim/230400 RETO LOOM
http://purl.bioontology.org/ontology/ICD9CM/271.1 ICD9CM LOOM
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rgo:01889 GAMUTS LOOM
http://localhost/plosthes.2017-1#10029 PLOSTHES LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_9870 NATPRO LOOM