Details of Disease

General Information of Disease (ID: DISSL827)

Disease Name Neutropenia, severe congenital, 9, autosomal dominant
Synonyms neutropenia, severe congenital, 9, autosomal dominant; SCN9
Disease Hierarchy
DISES99N: Severe congenital neutropenia
DISSL827: Neutropenia, severe congenital, 9, autosomal dominant
Disease Identifiers
MONDO ID
MONDO_0030726
UMLS CUI
C5676954
OMIM ID
619813
MedGen ID
1802793

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CLPB OT1I0IBK Strong Autosomal dominant [1]
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References

1 Heterozygous variants of CLPB are a cause of severe congenital neutropenia. Blood. 2022 Feb 3;139(5):779-791. doi: 10.1182/blood.2021010762.