Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.
Synonyms: I-cell disease N-acetylglucosamine 1-phosphotransferase deficiency Mucolipidosis type II alpha/beta
This is just here as a test because I lose it
Term information
database cross reference
- UMLS:C2931894 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:E77.0 (NTBT (ORPHA code's Narrower Term maps to a Broader Term))
- UMLS:C0020725 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:E77.0 (Inclusion term (The ORPHA code is included under a ICD10 category and has not its own code))
- OMIM:252500 (E (Exact mapping: the two concepts are equivalent))
- MeSH:C538602 (E (Exact mapping: the two concepts are equivalent))
Term relations
Subclass of:
- disease
- present_in some Ireland and has_birth_prevalence_range some 1-9 / 100 000 and has_birth_prevalence_average_value value 1.56
- present_in some Japan and has_birth_prevalence_range some 1-9 / 1 000 000 and has_birth_prevalence_average_value value 0.4
- present_in some Sweden and has_birth_prevalence_range some <1 / 1 000 000 and has_birth_prevalence_average_value value 0.05
- has_inheritance some autosomal recessive
- part_of some Mucolipidosis
- present_in some Specific population and has_birth_prevalence_range some 1-5 / 10 000 and has_birth_prevalence_average_value value 16.2
- part_of some Lysosomal storage disease with skeletal involvement
- present_in some Europe and has_point_prevalence_range some <1 / 1 000 000
- has_age_of_onset some neonatal
- present_in some Europe and has_birth_prevalence_range some 1-9 / 1 000 000 and has_birth_prevalence_average_value value 0.84
- present_in some Netherlands and has_birth_prevalence_range some 1-9 / 1 000 000 and has_birth_prevalence_average_value value 0.16
- present_in some Portugal and has_birth_prevalence_range some 1-9 / 1 000 000 and has_birth_prevalence_average_value value 0.81