Preferred Name |
Fechtner syndrome |
|
Synonyms |
FTNS |
|
Definitions |
(FTNS) - Autosomal dominant macrothrombocytopenia characterized by thrombocytopenia, giant platelets and leukocyte inclusions that are small and poorly organized. Additionally, FTNS is distinguished by Alport-like clinical features of sensorineural deafness, cataracts and nephritis. |
|
ID |
http://identifiers.org/omim/153640 |
|
altLabel |
FTNS |
|
definition |
(FTNS) - Autosomal dominant macrothrombocytopenia characterized by thrombocytopenia, giant platelets and leukocyte inclusions that are small and poorly organized. Additionally, FTNS is distinguished by Alport-like clinical features of sensorineural deafness, cataracts and nephritis. |
|
id |
OMIM:153640 |
|
notation |
OMIM:153640 |
|
prefLabel |
Fechtner syndrome |
|
subClassOf |
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