Cigarette Smoke Exposure Ontology

Last uploaded: July 10, 2014
Preferred Name

Galactosemia

Synonyms
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Galactosemia

DEFINITION

An autosomal recessive inherited metabolic disorder caused by mutations in the GALE, GALK1, and GALT genes. It is characterized by deficiency of the enzymes responsible for the metabolism of galactose. Signs and symptoms include intellectual disability, hepatomegaly, hepatic failure, and renal failure.

isDefinedBy

An autosomal recessive inherited metabolic disorder caused by mutations in the GALE, GALK1, and GALT genes. It is characterized by deficiency of the enzymes responsible for the metabolism of galactose. Signs and symptoms include intellectual disability, hepatomegaly, hepatic failure, and renal failure.

label

Galactosemia

prefixIRI

Thesaurus:Galactosemia

prefLabel

Galactosemia

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Carbohydrate_Metabolism_Disorder

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Inborn_Errors_of_Metabolism

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
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 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://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