| Concept UI |
CON00026 (Tree)
|
| Name |
Mucolipidosis III (alpha/beta)
|
| Aliases |
ML-III
Pseudo-Hurler Polydystrophy
|
| Disease name: INCLUDED |
MUCOLIPIDOSIS III ALPHA/BETA, ATYPICAL, INCLUDED
|
| Disease name: Preferred Term |
MUCOLIPIDOSIS III ALPHA/BETA
|
| Disease name: Synonyms (from OMIM and MeSH) |
ML III ALPHA/BETA
MUCOLIPIDOSIS III
PSEUDO-HURLER POLYDYSTROPHY
ML IIIA
ML III
MUCOLIPIDOSIS IIIA
|
| UMLS CUI |
C0033788
|
| UMLS SAB |
MeSH
|
| UMLS CODE |
D009081
|
| OMIM DATA: Gene |
GNPTAB
|
| OMIM DATA: Gene Number |
607840
|
| OMIM DATA: Phenotype Number |
252600
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Bone Diseases, Developmental
- Bone Diseases, Metabolic
- Brain Diseases, Metabolic
- Brain Diseases, Metabolic, Inborn
- Communication Disorders
- Corneal Diseases
- Corneal Opacity (Corneal clouding)
- Craniofacial Abnormalities
- Dwarfism (Short stature disorder)
- Dysostoses (Dysostosis multiplex)
- Ear Diseases
- Heart Diseases
- Heart Valve Diseases
- Intellectual Disability (Mental Retardation)
- Joint Diseases
- Learning Disorders
- Maxillofacial Abnormalities
- Mental Disorders Diagnosed in Childhood
- Mobility Limitation
- Mucolipidoses
- Musculoskeletal Diseases
- Musculoskeletal Pain
- Neurobehavioral Manifestations
- Osteoporosis
- Otitis
- Pain
- Respiratory Tract Diseases
- Respiratory Tract Infections
- Signs and Symptoms
- Stomatognathic System Abnormalities
|
|
References
|
- Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551.
- Freeze HH, Schachter H (2009) Genetic Disorders of Glycosylation. pp 585-600. Table 42.1 Genetic defects of glycan synthesis in humans.
- Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551. Table 2 Human diseases caused by genetic defects in N-glycosylation pathways.
|
GDGDB (ID)
Link to the Glyco-Disease Genes Database |
96
|