mucolipidosis
MONDO:0019248Mondo
Findings
No curated finding names mucolipidosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations.
Definition from the Mondo Disease Ontology (MONDO:0019248), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GNPTABHGNC:29670
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
Where it sits
- Narrower terms (2)