| Concept UI |
CON00008 (Tree)
|
| Name |
Alpha-mannosidosis
|
| Aliases |
Alpha-mannosidase B deficiency
|
| Disease name: Preferred Term |
MANNOSIDOSIS, ALPHA B, LYSOSOMAL
|
| Disease name: Preferred Term ABBR |
MANSA
|
| Disease name: Synonyms (from OMIM and MeSH) |
LYSOSOMAL ALPHA-D-MANNOSIDASE DEFICIENCY
ALPHA-MANNOSIDOSIS
ALPHA-MANNOSIDASE B DEFICIENCY
|
| UMLS CUI |
C0024748
|
| UMLS SAB |
MeSH
|
| UMLS CODE |
D008363
|
| OMIM DATA: Gene |
MAN2B1
|
| OMIM DATA: Gene Number |
609458
|
| OMIM DATA: Phenotype Number |
248500
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Anxiety, Separation
- Ataxia
- Behavior
- Behavioral Symptoms
- Bone Diseases
- Bone Diseases, Developmental
- Bone Diseases, Metabolic
- Brain Diseases
- Cataract
- Child Behavior Disorders
- Communication Disorders
- Craniofacial Abnormalities
- Depression
- Dyskinesias
- Dysostoses (Dysostosis multiplex)
- Ear Diseases
- Gingival Hyperplasia
- Gingival Overgrowth
- Hallucinations
- Hearing Disorders
- Hearing Loss (Hearing impairment)
- Hepatomegaly
- Hydrocephalus
- Intellectual Disability (Mental Retardation)
- Intracranial Hypertension
- Joint Diseases
- Language Disorders
- Learning Disorders
- Lens Diseases
- Liver Diseases
- Lymphatic Diseases
- Macroglossia
- Maxillofacial Abnormalities
- Mental Disorders Diagnosed in Childhood
- Mobility Limitation
- Motor Skills Disorders
- Muscle Weakness
- Muscular Diseases
- Musculoskeletal Abnormalities
- Musculoskeletal Diseases
- Neurobehavioral Manifestations
- Neuromuscular Manifestations
- Osteoporosis
- Otitis
- Perceptual Disorders
- Respiratory Tract Diseases
- Respiratory Tract Infections
- Signs and Symptoms
- Speech Disorders
- Spinal Diseases
- Splenic Diseases
- Stomatognathic System Abnormalities
- Tongue Diseases
|
|
References
|
- Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.1 Defects in glycoprotein degradation.
- Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583.
|
GDGDB (ID)
Link to the Glyco-Disease Genes Database |
117
|