Experimental Factor Ontology

Last uploaded: June 18, 2024
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Preferred Name

GNPTAB-mucolipidosis
Synonyms

GNPTAB-related disorder

UDP-N-acetylglucosamine-1-phosphotransferase subunit alpha/beta deficiency
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
creator

https://orcid.org/0000-0001-5208-3432
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.
has_exact_synonym

GNPTAB-related disorder

UDP-N-acetylglucosamine-1-phosphotransferase subunit alpha/beta deficiency
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/5565

https://github.com/monarch-initiative/mondo/issues/6020
id

MONDO:0100122
in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare
label

GNPTAB-mucolipidosis
notation

MONDO:0100122
prefLabel

GNPTAB-mucolipidosis
subClassOf

http://purl.obolibrary.org/obo/MONDO_0019248
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