| Concept UI |
CON00091 (Tree)
|
| Name |
Farber Lipogranulomatosis
|
| Aliases |
Acid Ceramidase Deficiency
|
| Disease name: Preferred Term |
FARBER LIPOGRANULOMATOSIS
|
| Disease name: Synonyms (from OMIM and MeSH) |
FARBER DISEASE
CERAMIDASE DEFICIENCY
N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY
ACID CERAMIDASE DEFICIENCY
AC DEFICIENCY
|
| UMLS CUI |
C0268255
|
| UMLS SAB |
MeSH
|
| UMLS CODE |
D055577
|
| OMIM DATA: Gene |
ASAH1
|
| OMIM DATA: Gene Number |
613468
|
| OMIM DATA: Phenotype Number |
228000
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Arthritis
- Brain Diseases, Metabolic
- Brain Diseases, Metabolic, Inborn
- Contracture
- Dyskinesias
- Dyspnea
- Hepatomegaly
- Hoarseness
- Intellectual Disability (Mental Retardation)
- Joint Diseases
- Language Disorders
- Liver Diseases
- Lung Diseases
- Lymphatic Diseases
- Mental Disorders Diagnosed in Childhood
- Mobility Limitation
- Musculoskeletal Pain
- Myoclonus
- Neurobehavioral Manifestations
- Neurologic Manifestations
- Pain
- Paralysis
- Respiration Disorders
- Respiratory Tract Diseases
- Retinal Degeneration
- Retinal Diseases
- Seizures
- Signs and Symptoms
- Speech Disorders
- Splenic Diseases
- Epilepsy
|
GDGDB (ID)
Link to the Glyco-Disease Genes Database |
72
|