Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	NEUTROPENIA, SEVERE CONGENITAL, X-LINKED
Synonyms	XLN
ID	http://purl.bioontology.org/ontology/OMIM/300299
altLabel	XLN SCNX
cui	C1845987
Gene Locus	Xp11.23-p11.22
Gene Symbol	THC1 IMD2 WAS SCNX
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU008415 http://purl.bioontology.org/ontology/OMIM/MTHU028773 http://purl.bioontology.org/ontology/OMIM/MTHU032723 http://purl.bioontology.org/ontology/OMIM/MTHU008419 http://purl.bioontology.org/ontology/OMIM/MTHU008417 http://purl.bioontology.org/ontology/OMIM/MTHU008420 http://purl.bioontology.org/ontology/OMIM/MTHU028772 http://purl.bioontology.org/ontology/OMIM/MTHU032722 http://purl.bioontology.org/ontology/OMIM/MTHU008416 http://purl.bioontology.org/ontology/OMIM/MTHU008414 http://purl.bioontology.org/ontology/OMIM/MTHU032724
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	300299
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	NEUTROPENIA, SEVERE CONGENITAL, X-LINKED
tui	T047

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C564539	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/C564539	Medical Subject Headings	LOOM