Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/300299 http://purl.bioontology.org/ontology/OMIM/300299
Preferred Name	NEUTROPENIA, SEVERE CONGENITAL, X-LINKED
Synonyms	SCNX XLN
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SCNX XLN
prefLabel	NEUTROPENIA, SEVERE CONGENITAL, X-LINKED
Gene Symbol	SCNX WAS IMD2 THC1
Scope Statement	Caused by mutation in the WASP actin nucleation promoting factor gene (WAS, 300392.0012) [MOLECULAR BASIS] Allelic to Wiskott-Aldrich syndrome (301000) and X-linked thrombocytopenia (313900) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU032722 http://purl.bioontology.org/ontology/OMIM/MTHU008417 http://purl.bioontology.org/ontology/OMIM/MTHU008420 http://purl.bioontology.org/ontology/OMIM/MTHU008415 http://purl.bioontology.org/ontology/OMIM/MTHU032723 http://purl.bioontology.org/ontology/OMIM/MTHU008414 http://purl.bioontology.org/ontology/OMIM/MTHU032724 http://purl.bioontology.org/ontology/OMIM/MTHU008419 http://purl.bioontology.org/ontology/OMIM/MTHU008416 See more See less
tui	T047
Gene Locus	Xp11.23-p11.22
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	300299
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU006805
cui	C1845987
OMIM Entry Type	3
OMIM MimType Value	pound

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