BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

galactosemia

Synonyms

Galactosaemia

Galactose intolerance

Definitions

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

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_2020_03_01:38177000

GARD:2424

NCI:C84723

has exact synonym

Galactosaemia

Galactose intolerance

has_obo_namespace

disease_ontology

id

DOID:9870

imported from

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

in_subset

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

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

label

galactosemia

notation

DOID:9870

prefLabel

galactosemia

textual definition

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

subClassOf

http://purl.obolibrary.org/obo/DOID_2978

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_9870 DOID SAME_URI
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 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 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018116 EFO LOOM
http://purl.obolibrary.org/obo/DOID_9870 DOID 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 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

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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Example: tissue-based format

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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.
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