| Concept UI |
CON00087 (Tree)
|
| Name |
Niemann-Pick disease, type B
|
| Aliases |
non-neurological type
|
| Disease name: INCLUDED |
NIEMANN-PICK DISEASE, TYPE E, INCLUDED
NIEMANN-PICK DISEASE, INTERMEDIATE, WITH VISCERAL INVOLVEMENT AND RAPID PROGRESSION, INCLUDED
NIEMANN-PICK DISEASE, TYPE F, INCLUDED
|
| Disease name: Preferred Term |
NIEMANN-PICK DISEASE, TYPE B
|
| UMLS CUI |
C0268243
|
| UMLS SAB |
MeSH
|
| UMLS CODE |
D052537
|
| OMIM DATA: Gene |
SMPD1
|
| OMIM DATA: Gene Number |
607608
|
| OMIM DATA: Phenotype Number |
607616
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Blood Platelet Disorders
- Bone Diseases, Developmental
- Coronary Artery Disease
- Coronary Disease
- Dwarfism (Short stature disorder)
- Growth Disorders
- Hepatomegaly
- Histiocytosis
- Liver Diseases
- Lung Diseases
- Lymphatic Diseases
- Pathologic Processes
- Respiratory Tract Diseases
- Respiratory Tract Infections
- Splenic Diseases
- Thrombocytopenia
|
GDGDB (ID)
Link to the Glyco-Disease Genes Database |
69
|