Human Disease Ontology

Last uploaded: June 2, 2024
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Preferred Name

galactosemia
Synonyms

Galactosaemia

Galactose intolerance
Definitions

OMIM mapping by NeuroDevNet. [LS].
ID

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

OMIM mapping by NeuroDevNet. [LS].
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 GAMUTS SAME_URI
http://purl.obolibrary.org/obo/DOID_9870 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_9870 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_9870 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_9870 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_9870 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018116 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018116 MONDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/190745006 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/DOID_9870 CLO LOOM
http://purl.obolibrary.org/obo/DOID_9870 DTO LOOM
http://purl.obolibrary.org/obo/DOID_9870 BAO LOOM
http://purl.obolibrary.org/obo/DOID_9870 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_9870 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_9870 FNS-H LOOM
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
http://purl.obolibrary.org/obo/NCIT_C84723 BERO LOOM
http://purl.bioontology.org/ontology/NLMVS/2.16.840.1.113883.3.117.1.7.1.35 NLMVS LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU012915 OMIM LOOM
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
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84723 NCIT LOOM
http://purl.obolibrary.org/obo/OMIM_230400 CCO LOOM
http://www.gamuts.net/entity#galactosemia GAMUTS LOOM
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
http://purl.bioontology.org/ontology/ICD9CM/271.1 NLMVS LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Galactosemia PEDTERM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Galactosemia CSEO LOOM
http://purl.jp/bio/4/id/200906032813311416 IOBC LOOM
http://purl.bioontology.org/ontology/CSP/1849-3608 CRISP LOOM
http://localhost/plosthes.2017-1#10029 PLOSTHES LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_9870 NATPRO LOOM
http://www.gamuts.net/entity#galactosemia GAMUTS REST