| Concept UI |
CON00078 (Tree)
|
| Name |
Multiple sulfatase deficiency
|
| Aliases |
MSD
Multiple sulfatase deficiency disease
|
| Disease name: Preferred Term |
MULTIPLE SULFATASE DEFICIENCY
|
| Disease name: Preferred Term ABBR |
MSD
|
| Disease name: Synonyms (from OMIM and MeSH) |
MUCOSULFATIDOSIS
SULFATIDOSIS, JUVENILE, AUSTIN TYPE
|
| UMLS CUI |
C0268263
|
| UMLS SAB |
MeSH
|
| UMLS CODE |
D052517
|
| OMIM DATA: Gene |
SUMF1
|
| OMIM DATA: Gene Number |
607939
|
| OMIM DATA: Phenotype Number |
272200
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Brain Diseases, Metabolic
- Brain Diseases, Metabolic, Inborn
- Craniofacial Abnormalities
- Developmental Disabilities
- Hearing Disorders
- Hearing Loss (Hearing impairment)
- Hepatomegaly
- Ichthyosis
- Kyphosis
- Language Disorders
- Liver Diseases
- Lymphatic Diseases
- Maxillofacial Abnormalities
- Mental Disorders Diagnosed in Childhood
- Mobility Limitation
- Musculoskeletal Abnormalities
- Musculoskeletal Diseases
- Signs and Symptoms
- Skin Abnormalities
- Speech Disorders
- Spinal Curvatures
- Splenic Diseases
- Stomatognathic System Abnormalities
|
|
References
|
- Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.2 Defects in glycosaminoglycan degradation - the mucopolysaccharidoses.
- 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 |
98
|