| D003241 |
Consanguinity |
The magnitude of INBREEDING in humans. |
Inbreeding, Human,Consanguineous Marriage,Consanguinous Mating,Consanguineous Marriages,Consanguinities,Consanguinous Matings,Human Inbreeding,Human Inbreedings,Inbreedings, Human,Marriage, Consanguineous,Marriages, Consanguineous,Mating, Consanguinous,Matings, Consanguinous |
|
| D012497 |
Sandhoff Disease |
An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE. |
G(M2) Gangliosidosis, Type II,Gangliosidosis G(M2), Type II,Hexosaminidase A and B Deficiency Disease,Adult Sandhoff Disease,Deficiency Disease, Hexosaminidase A and B,GM2 Gangliosidosis, Type 2,GM2 Gangliosidosis, Type II,GM2-Gangliosidosis, Type II,Gangliosidosis GM2, Type II,Hexosaminidases A And B Deficiency,Infantile Sandhoff Disease,Juvenile Sandhoff Disease,Sandhoff Disease, Adult,Sandhoff Disease, Adult Type,Sandhoff Disease, Infantile,Sandhoff Disease, Infantile Type,Sandhoff Disease, Juvenile,Sandhoff Disease, Juvenile Type,Sandhoff's Disease,Sandhoff-Jatzkewitz-Pilz Disease,Total Hexosaminidase Deficiency,beta-Hexosaminidase-beta-Subunit Deficiency,Deficiency, Total Hexosaminidase,Deficiency, beta-Hexosaminidase-beta-Subunit,Disease, Sandhoff-Jatzkewitz-Pilz,GM2-Gangliosidoses, Type II,Hexosaminidase Deficiency, Total,Sandhoff Jatzkewitz Pilz Disease,Sandhoffs Disease,Total Hexosaminidase Deficiencies,Type II GM2-Gangliosidoses,Type II GM2-Gangliosidosis,beta Hexosaminidase beta Subunit Deficiency,beta-Hexosaminidase-beta-Subunit Deficiencies |
|