| Concept UI |
CON00090 (Tree)
|
| Name |
Niemann-Pick disease, type C2
|
| Disease name: Preferred Term |
NIEMANN-PICK DISEASE, TYPE C2
|
| UMLS CUI |
C1843366
|
| UMLS SAB |
MeSH (SCR)
|
| UMLS CODE |
C536119
|
| OMIM DATA: Gene |
NPC2
|
| OMIM DATA: Gene Number |
601015
|
| OMIM DATA: Phenotype Number |
607625
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Ataxia
- Behavior
- Behavioral Symptoms
- Brain Diseases
- Brain Diseases, Metabolic
- Brain Diseases, Metabolic, Inborn
- Central Nervous System Diseases
- Communication Disorders
- Deglutition Disorders (Swallowing difficulty)
- Dementia
- Developmental Disabilities
- Digestive System Diseases
- Dyskinesias
- Dyspnea
- Dystonia
- Eye Diseases
- Facial Paralysis
- Feeding and Eating Disorders of Childhood
- Hepatomegaly
- Hyperbilirubinemia
- Intellectual Disability (Mental Retardation)
- Language Disorders
- Learning Disorders
- Liver Diseases
- Lung Diseases
- Lymphatic Diseases
- Mental Disorders Diagnosed in Childhood
- Mobility Limitation
- Motor Skills Disorders
- Movement Disorders
- Neurobehavioral Manifestations
- Neurologic Manifestations
- Ocular Motility Disorders
- Paralysis
- Pharyngeal Diseases
- Respiration Disorders
- Respiratory Tract Diseases
- Respiratory Tract Infections
- Seizures
- Signs and Symptoms
- Speech Disorders
- Splenic Diseases
- Tremor
- Cranial Nerve Diseases
- Jaundice
- Epilepsy
- Esophageal Diseases
|
GDGDB (ID)
Link to the Glyco-Disease Genes Database |
71
|