Preferred Name |
Scheie syndrome |
|
Synonyms |
mucopolysaccharidosis type V |
|
Definitions |
WD former synonym. A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan. |
|
ID |
http://purl.obolibrary.org/obo/DOID_0060222 |
|
comment |
WD former synonym. |
|
created by |
emitraka |
|
creation_date |
2014-11-26T11:32:20Z |
|
database_cross_reference |
OMIM:607016 ICD10CM:E76.0 GARD:12561 ORDO:93474 |
|
definition |
A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan. |
|
has exact synonym |
mucopolysaccharidosis type V mucopolysaccharidosis type 1S mucopolysaccharidosis type IS |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:0060222 |
|
in_subset | ||
label |
Scheie syndrome |
|
notation |
DOID:0060222 |
|
prefLabel |
Scheie syndrome |
|
subClassOf |
Create mapping