BioAssay Ontology

Last uploaded: February 21, 2024
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

SNOMEDCT_US_2020_03_01:124302001

UMLS_CUI:C0268155

NCI:C114767

MESH:D005693

ICD10CM:E74.29

OMIM:230200

GARD:2422

has exact synonym

Galactosemia II

has_obo_namespace

disease_ontology

id

DOID:14695

imported from

http://purl.obolibrary.org/obo/doid.owl

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

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

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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 HHEAR 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 HHEAR 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

The BioAssay Ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.

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Suggested term name. If a term can be described with multiple synonyms, only list the preferred name here.
Example: tissue-based format

Term description (required)
A brief definition, description, or usage of your suggested term. Additional term synonyms may be listed in this section.
Example: Involves the use of a tissue derived from a living organism and is a heterogeneous assay type.

Superclass (required)
The parent term of the suggested term. The parent term should be an existing entry of the current ontology. The superclass can be selected directly from the 'Classes' viewer on Bioportal's left tree navigation.
Example: assay format

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Justification (optional)
Provide any additional information about the requested term here.

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