Preferred Name |
Fucosidosis |
|
Synonyms |
FUCA1D |
|
Definitions |
(FUCA1D) - An autosomal recessive lysosomal storage disease characterized by accumulation of fucose- containing glycolipids and glycoproteins in various tissues. Clinical signs include facial dysmorphism, dysostosis multiplex, moderate hepatomegaly, severe intellectual deficit, deafness, and according to age, angiokeratomas. |
|
ID |
http://identifiers.org/omim/230000 |
|
altLabel |
FUCA1D |
|
definition |
(FUCA1D) - An autosomal recessive lysosomal storage disease characterized by accumulation of fucose- containing glycolipids and glycoproteins in various tissues. Clinical signs include facial dysmorphism, dysostosis multiplex, moderate hepatomegaly, severe intellectual deficit, deafness, and according to age, angiokeratomas. |
|
id |
OMIM:230000 |
|
notation |
OMIM:230000 |
|
prefLabel |
Fucosidosis |
|
subClassOf |
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