Genetic Glyco-Diseases Ontology (GGDonto)

Concept UI	CON00023 (Tree)
Name	Galactosialidosis
Aliases	Combined deficiency of sialidase AND beta galactosidase
Disease name:　Preferred Term	GALACTOSIALIDOSIS
Disease name:　Preferred Term ABBR	GSL
Disease name:　Synonyms (from OMIM and MeSH)	CATHEPSIN A DEFICIENCY NGBE PROTECTIVE PROTEIN/CATHEPSIN A DEFICIENCY LYSOSOMAL PROTECTIVE PROTEIN DEFICIENCY NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY NEURAMINIDASE/BETA-GALACTOSIDASE EXPRESSION GOLDBERG SYNDROME PPCA DEFICIENCY
UMLS CUI	C0268233
UMLS SAB	MeSH (SCR)
UMLS CODE	C536411
OMIM DATA:　Gene	CTSA
OMIM DATA:　Gene Number	613111
OMIM DATA:　Phenotype Number	256540
Symptoms, signs and abnormal clinical and laboratory findings	Angiokeratoma Ataxia Blindness (Vision loss) Bone Diseases Bone Diseases, Developmental Cardiomegaly Craniofacial Abnormalities Dwarfism (Short stature disorder) Dyskinesias Dysostoses (Dysostosis multiplex) Edema Hearing Disorders Hearing Loss (Hearing impairment) Heart Diseases Heart Valve Diseases Hepatomegaly Hernia, Abdominal Hernia, Inguinal Hydrops Fetalis Intellectual Disability (Mental Retardation) Kidney Diseases Liver Diseases Lymphatic Diseases Maxillofacial Abnormalities Mental Disorders Diagnosed in Childhood Myoclonus Neoplasms, Vascular Tissue Neurobehavioral Manifestations Neurologic Manifestations Renal Insufficiency (Kidney failure) Retinal Degeneration Retinal Diseases Seizures Spinal Diseases Splenic Diseases Stomatognathic System Abnormalities Urologic Diseases Vision Disorders Epilepsy
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	114