Online Mendelian Inheritance in Man - THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Details
Visualization
Notes ( 0 )
Class Mappings ( )

Preferred Name	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
Synonyms	THROMBOTIC MICROANGIOPATHY, FAMILIAL
ID	http://purl.bioontology.org/ontology/OMIM/274150
altLabel	THROMBOTIC MICROANGIOPATHY, FAMILIAL THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL MICROANGIOPATHIC HEMOLYTIC ANEMIA USS MICROANGIOPATHIC HEMOLYTIC ANEMIA, CONGENITAL UPSHAW-SCHULMAN SYNDROME SCHULMAN-UPSHAW SYNDROME TTP UPSHAW FACTOR, DEFICIENCY OF
cui	C1268935 C1956258
Gene Locus	9q34
Gene Symbol	VWFCP TTP ADAMTS13
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU009066 http://purl.bioontology.org/ontology/OMIM/MTHU009070 http://purl.bioontology.org/ontology/OMIM/MTHU009072 http://purl.bioontology.org/ontology/OMIM/MTHU009074 http://purl.bioontology.org/ontology/OMIM/MTHU025741 http://purl.bioontology.org/ontology/OMIM/MTHU012768 http://purl.bioontology.org/ontology/OMIM/MTHU001096 http://purl.bioontology.org/ontology/OMIM/MTHU009069 http://purl.bioontology.org/ontology/OMIM/MTHU009067 http://purl.bioontology.org/ontology/OMIM/MTHU009065 http://purl.bioontology.org/ontology/OMIM/MTHU000212 http://purl.bioontology.org/ontology/OMIM/MTHU009063 http://purl.bioontology.org/ontology/OMIM/MTHU036802 http://purl.bioontology.org/ontology/OMIM/MTHU005439 http://purl.bioontology.org/ontology/OMIM/MTHU009061 http://purl.bioontology.org/ontology/OMIM/MTHU009075 http://purl.bioontology.org/ontology/OMIM/MTHU009073 http://purl.bioontology.org/ontology/OMIM/MTHU009071 http://purl.bioontology.org/ontology/OMIM/MTHU009077 http://purl.bioontology.org/ontology/OMIM/MTHU001772 http://purl.bioontology.org/ontology/OMIM/MTHU028649 http://purl.bioontology.org/ontology/OMIM/MTHU028650 http://purl.bioontology.org/ontology/OMIM/MTHU032649 http://purl.bioontology.org/ontology/OMIM/MTHU000013 http://purl.bioontology.org/ontology/OMIM/MTHU025742 http://purl.bioontology.org/ontology/OMIM/MTHU009062 http://purl.bioontology.org/ontology/OMIM/MTHU009068 http://purl.bioontology.org/ontology/OMIM/MTHU005420
MIMTYPEMEANING	Phenotype description, molecular basis known.
Moved from	276850
notation	274150
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL
tui	T047

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display

Create New Mapping

Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/D011697	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/D011697	Medical Subject Headings	CUI