Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

Preferred Name	UDP-N-acetylglucosamine-1-phosphotransferase subunit alpha/beta deficiency
Synonyms	GNPTAB-related disorder
Definitions	An autosomal recessive mucolipidosis disorder caused by bi-allelic variants in the GNPTAB gene. Symptoms of this condition occur across a clinical spectrum including mucolipidosis type II (ML II) and mucolipidosis type III alpha/beta (ML IIIα/β), and phenotypes intermediate between ML II and ML IIIα/β.
ID	http://purl.obolibrary.org/obo/MONDO_0100122
created_by	http://orcid.org/0000-0001-5208-3432
has_exact_synonym	GNPTAB-related disorder
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/5565
label	UDP-N-acetylglucosamine-1-phosphotransferase subunit alpha/beta deficiency
prefixIRI	MONDO:0100122
prefLabel	UDP-N-acetylglucosamine-1-phosphotransferase subunit alpha/beta deficiency
textual definition	An autosomal recessive mucolipidosis disorder caused by bi-allelic variants in the GNPTAB gene. Symptoms of this condition occur across a clinical spectrum including mucolipidosis type II (ML II) and mucolipidosis type III alpha/beta (ML IIIα/β), and phenotypes intermediate between ML II and ML IIIα/β.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0019248

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Delete	Mapping To	Ontology	Source
	http://purl.obolibrary.org/obo/MONDO_0100122	MONDO	SAME_URI
	http://purl.obolibrary.org/obo/MONDO_0100122	EFO	SAME_URI