Cell Cycle Ontology

Last uploaded: June 26, 2014
Preferred Name

Fechtner syndrome
Synonyms
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://purl.obolibrary.org/obo/OMIM_153640

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.

has_obo_namespace

cell_cycle_ontology

id

OMIM:153640

label

Fechtner syndrome

notation

OMIM:153640

prefLabel

Fechtner syndrome

treeView

http://purl.obolibrary.org/obo/OGMS_0000031

subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031

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