Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	THROMBOCYTOPENIA 1
Synonyms	XLT
ID	http://purl.bioontology.org/ontology/OMIM/313900
altLabel	XLT THROMBOCYTOPENIA, X-LINKED, INTERMITTENT THC1 THC THROMBOCYTOPENIA, X-LINKED THROMBOCYTOPENIA, X-LINKED, 1
cui	C1839163 C1839164
Gene Locus	Xp11.23-p11.22
Gene Symbol	THC1 IMD2 WAS SCNX
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU028970 http://purl.bioontology.org/ontology/OMIM/MTHU036919 http://purl.bioontology.org/ontology/OMIM/MTHU006825 http://purl.bioontology.org/ontology/OMIM/MTHU036809 http://purl.bioontology.org/ontology/OMIM/MTHU006829 http://purl.bioontology.org/ontology/OMIM/MTHU006827 http://purl.bioontology.org/ontology/OMIM/MTHU006823 http://purl.bioontology.org/ontology/OMIM/MTHU006821 http://purl.bioontology.org/ontology/OMIM/MTHU028969 http://purl.bioontology.org/ontology/OMIM/MTHU038337 http://purl.bioontology.org/ontology/OMIM/MTHU000449 http://purl.bioontology.org/ontology/OMIM/MTHU006822 http://purl.bioontology.org/ontology/OMIM/MTHU006828 http://purl.bioontology.org/ontology/OMIM/MTHU006824
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	313900
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	THROMBOCYTOPENIA 1
tui	T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C564053	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C564052	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C564052	Medical Subject Headings	LOOM