Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/202700 http://purl.bioontology.org/ontology/OMIM/202700
Preferred Name	NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT
Synonyms	SCN1
Type	http://www.w3.org/2002/07/owl#Class

altLabel	SCN1
prefLabel	NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT
Gene Symbol	ELA2 ELANE SCN1
Scope Statement	Onset in infancy [MISCELLANEOUS] Caused by mutation in the neutrophil-expressed elastase gene (ELANE, 130130.0006) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU041697 http://purl.bioontology.org/ontology/OMIM/MTHU041699 http://purl.bioontology.org/ontology/OMIM/MTHU041695 http://purl.bioontology.org/ontology/OMIM/MTHU041696 http://purl.bioontology.org/ontology/OMIM/MTHU041698 http://purl.bioontology.org/ontology/OMIM/MTHU008388 http://purl.bioontology.org/ontology/OMIM/MTHU020418 http://purl.bioontology.org/ontology/OMIM/MTHU041700 http://purl.bioontology.org/ontology/OMIM/MTHU004968 See more See less
tui	T047
Gene Locus	19p13.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	202700
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1859966
OMIM Entry Type	3
OMIM MimType Value	pound

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