Gene Expression Ontology

Last uploaded: December 16, 2015

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

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://identifiers.org/omim/153640	REXO	SAME_URI
http://identifiers.org/omim/153640	RETO	SAME_URI
http://www.orpha.net/ORDO/Orphanet_1984	ORDO	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_1924	HRDO	LOOM
http://purl.bioontology.org/ontology/RCD/X30Ik	RCD	LOOM
http://www.orpha.net/ORDO/Orphanet_1984	ORDO	LOOM
http://purl.obolibrary.org/obo/HIO_0000045	HIO	LOOM
http://purl.obolibrary.org/obo/OMIM_153640	CCO	LOOM
http://purl.obolibrary.org/obo/NCIT_C131642	BERO	LOOM
http://identifiers.org/omim/153640	REXO	LOOM
http://identifiers.org/omim/153640	RETO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C131642	NCIT	LOOM