Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Fechtner syndrome
Synonyms	Alport syndrome with leukocyte inclusions and macrothrombocytopenia
ID	http://www.limics.org/hrdo/rdfns#pat_id_1924
ageOfDeath	No data available
ageOfOnset	Childhood
altLabel	Alport syndrome with leukocyte inclusions and macrothrombocytopenia
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22Fechtner+syndrome%22+OR+((thrombocytopenia+OR+macrothrombocytopenia)+(inclusion*%5Bti%5D+OR+MYH9))
id_MeSH	C537078
id_MIM	153640
id_OMS	D69.4
id_Orpha	1984
id_SNOMEDCT	236422008
id_UMLS	C0403445
inheritance	Autosomal dominant
patType	clinical subtype
prefixIRI	hrdo:pat_id_1924
prefLabel	Fechtner syndrome
prevalence	Unknown
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_2

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://www.orpha.net/ORDO/Orphanet_1984	ORDO	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	GEXO	LOOM
http://identifiers.org/omim/153640	RETO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C131642	NCIT	LOOM