Preferred Name |
Hereditary Spherocytosis |
|
Synonyms |
|
|
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://purl.obolibrary.org/obo/NCIT_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 |
|
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. |
|
in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 |
|
label |
Hereditary Spherocytosis |
|
Preferred_Name |
Hereditary Spherocytosis |
|
prefixIRI |
NCIT:C97074 |
|
prefLabel |
Hereditary Spherocytosis |
|
Semantic_Type |
Disease or Syndrome |
|
UMLS_CUI |
C0037889 |
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subClassOf |