Details of Disease

General Information of Disease (ID: DIS4TC4I)

Disease Name Hereditary stomatocytosis
Synonyms hereditary stomatocytic disease
Disease Hierarchy
DIS803XQ: Hemolytic anemia
DIS4TC4I: Hereditary stomatocytosis
Disease Identifiers
MONDO ID
MONDO_0020102
UMLS CUI
C1262483
MedGen ID
490161
Orphanet ID
98365
SNOMED CT ID
14087004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
STOML1 OTSIO2QA Definitive Biomarker [1]
STOML3 OTLQGALK Definitive Genetic Variation [1]
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References

1 A novel gene STORP (STOmatin-Related Protein) is localized 2 kb upstream of the promyelocytic gene on chromosome 15q22.Eur J Haematol. 2000 Feb;64(2):104-13. doi: 10.1034/j.1600-0609.2000.90054.x.