Preferred Name |
Hereditary Spherocytosis |
|
Synonyms |
Hereditary Spherocytosis |
|
Definitions |
An autosomal dominant inherited disorder characterized by the presence of smaller than normal, sphere-shaped erythrocytes. It results in hemolytic anemia and splenomegaly. |
|
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97074 |
|
ALT_DEFINITION |
An autosomal dominant inherited disorder characterized by the presence of smaller than normal, sphere-shaped erythrocytes, resulting in hemolytic anemia and splenomegaly. Mutations in ANK1 account for over half of the cases. |
|
code |
C97074 |
|
Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 |
|
Contributing_Source |
Cellosaurus NICHD |
|
DEFINITION |
An autosomal dominant inherited disorder characterized by the presence of smaller than normal, sphere-shaped erythrocytes. It results in hemolytic anemia and splenomegaly. |
|
FULL_SYN |
Hereditary Spherocytosis |
|
label |
Hereditary Spherocytosis |
|
Preferred_Name |
Hereditary Spherocytosis |
|
prefixIRI |
Thesaurus:C97074 |
|
Semantic_Type |
Disease or Syndrome |
|
UMLS_CUI |
C0037889 |
|
subClassOf |