| Concept UI |
CON00062 (Tree)
|
| Name |
GM2-gangliosidosis, AB variant
|
| Aliases |
GM2 activator deficiency
Tay-Sachs disease, AB variant
|
| Disease name: Preferred Term |
GM2-GANGLIOSIDOSIS, AB VARIANT
|
| Disease name: Synonyms (from OMIM and MeSH) |
GM2 ACTIVATOR DEFICIENCY
HEXOSAMINIDASE ACTIVATOR DEFICIENCY
TAY-SACHS DISEASE, AB VARIANT
AB VARIANT GM2-GANGLIOSIDOSIS
|
| UMLS CUI |
C0268275
|
| UMLS SAB |
MeSH
|
| UMLS CODE |
D049290
|
| OMIM DATA: Gene |
GM2A
|
| OMIM DATA: Gene Number |
613109
|
| OMIM DATA: Phenotype Number |
272750
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Blindness (Vision loss)
- Brain Diseases, Metabolic
- Brain Diseases, Metabolic, Inborn
- Developmental Disabilities
- Hearing Disorders
- Hearing Loss (Hearing impairment)
- Mental Disorders Diagnosed in Childhood
- Mobility Limitation
- Motor Skills Disorders
- Muscle Weakness
- Muscular Diseases
- Neurologic Manifestations
- Neuromuscular Manifestations
- Paralysis
- Retinal Degeneration
- Retinal Diseases
- Seizures
- Signs and Symptoms
- Vision Disorders
- Epilepsy
|
GDGDB (ID)
Link to the Glyco-Disease Genes Database |
56
|