Human Health Exposure Analysis Resource

Last uploaded: February 2, 2024
Jump to:
loading...
Preferred Name

galactokinase deficiency
Synonyms

Galactosemia II
Definitions

OMIM mapping confirmed by DO. [SN]. A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.
ID

http://purl.obolibrary.org/obo/DOID_14695
comment

OMIM mapping confirmed by DO. [SN].
database_cross_reference

UMLS_CUI:C0268155

SNOMEDCT_US_2023_03_01:124302001

NCI:C114767

MESH:D005693

ICD10CM:E74.29

OMIM:230200

GARD:2422
has exact synonym

Galactosemia II
has_obo_namespace

disease_ontology
id

DOID:14695
in_subset

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

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

galactokinase deficiency
notation

DOID:14695
prefLabel

galactokinase deficiency
textual definition

A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.
subClassOf

http://purl.obolibrary.org/obo/DOID_9870
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_14695 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_14695 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_14695 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_14695 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_14695 FNS-H SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009255 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0009255 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_14695 DOID LOOM
http://nanbyodata.jp/ontology/NANDO_2200533 NANDO LOOM
http://purl.jp/bio/4/id/200906068510046137 IOBC LOOM
http://purl.obolibrary.org/obo/NCIT_C114767 BERO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_11263 HRDO LOOM
http://www.orpha.net/ORDO/Orphanet_79237 ORDO LOOM
http://purl.bioontology.org/ontology/RCTV2/C311100 RCTV2 LOOM
http://purl.bioontology.org/ontology/RCD/C3111 RCD LOOM
http://purl.obolibrary.org/obo/DOID_14695 CLO LOOM
http://purl.obolibrary.org/obo/DOID_14695 BAO LOOM
http://purl.obolibrary.org/obo/DOID_14695 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14695 FNS-H LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14695 NATPRO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0268155 OCHV LOOM
http://purl.bioontology.org/ontology/LNC/LA12542-9 LOINC LOOM
http://purl.bioontology.org/ontology/LNC/LP56782-3 LOINC LOOM
http://purl.obolibrary.org/obo/MONDO_0009255 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0009255 KTAO LOOM
http://www.gamuts.net/entity#galactokinase_deficiency GAMUTS LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C114767 NCIT LOOM
http://purl.bioontology.org/ontology/LNC/MTHU021612 LOINC LOOM