| Concept UI |
CON00020 (Tree)
|
| Name |
Schindler disease, type I
|
| Aliases |
infantile type
|
| Disease name: INCLUDED |
NAGA DEFICIENCY, TYPE III, INCLUDED
ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE III, INCLUDED
SCHINDLER DISEASE, TYPE III, INCLUDED
|
| Disease name: Preferred Term |
SCHINDLER DISEASE, TYPE I
|
| Disease name: Synonyms (from OMIM and MeSH) |
NEUROAXONAL DYSTROPHY, SCHINDLER TYPE
NAGA DEFICIENCY, TYPE I
ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE I
|
| UMLS CUI |
C1836544
|
| UMLS SAB |
MeSH (SCR)
|
| UMLS CODE |
C536631
|
| OMIM DATA: Gene |
NAGA
|
| OMIM DATA: Gene Number |
104170
|
| OMIM DATA: Phenotype Number |
609241
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Blindness (Vision loss)
- Communication Disorders
- Developmental Disabilities
- Heredodegenerative Disorders, Nervous System
- Intellectual Disability (Mental Retardation)
- Learning Disorders
- Mental Disorders Diagnosed in Childhood
- Neurobehavioral Manifestations
- Neurodegenerative Diseases
- Neurologic Manifestations
- Seizures
- Vision Disorders
- Epilepsy
|
GDGDB (ID)
Link to the Glyco-Disease Genes Database |
80
|