Preferred Name |
Tay-Sachs disease |
|
Synonyms |
Hexosaminidase A-Mangel Hexosaminidase A, deficiência de GM2-Gangliosidose, Varianten B, B1 und AB Hexosaminidase A deficiency |
|
ID |
http://www.limics.org/hrdo/rdfns#pat_id_888 |
|
ageOfOnset |
Variable Variabile Variabel Variable Variable Variável Variable |
|
altLabel |
Hexosaminidase A-Mangel Hexosaminidase A, deficiência de GM2-Gangliosidose, Varianten B, B1 und AB Hexosaminidase A deficiency Déficit de hexosaminidasa A Déficit en hexosaminidase A Deficiência de hexosaminidase A Deficit di esosaminidasi A Gangliosidosis-GM2, B, variante B1 GM2-gangliosidosis, B, B1 variant GM2-gangliosidosi, variante B, B1 Gangliosidose à GM2 variants B, B1 Gangliosidose GM2, variantes B, B1 e AB Morbus Tay-Sachs |
|
id_MedDRA |
10043147 |
|
id_Medline |
http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=tay-sachs+disease%5Bmajr%5D |
|
id_MeSH |
D013661 |
|
id_MIM |
272800 |
|
id_OMS |
E75.0 |
|
id_Orpha |
845 |
|
id_SNOMEDCT |
111385000 |
|
id_UMLS |
C0039373 C1848922 |
|
inheritance |
Autosómico recesivo Autosomal recessive Autossómica recessiva Autosomica recessiva Autosomal recessive Autosomique récessif Autosomal-rezessiv |
|
patType |
disease |
|
prefixIRI |
hrdo:pat_id_888 |
|
prefLabel |
Doença de Tay-Sachs Malattia di Tay-Sachs Tay-Sachs disease Enfermedad de Tay-Sachs Maladie de Tay-Sachs Tay-Sachs-Krankheit |
|
prevalence |
1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 |
|
subClassOf |