Details of Disease

General Information of Disease (ID: DISCXLXP)

Disease Name Hemoglobinopathy Toms River
Synonyms transient neonatal cyanosis and anaemia due to Toms River Haemoglobin; transient neonatal cyanosis and anemia due to Toms River Hemoglobin
Disease Hierarchy
DISI8W45: Anaemia
DISJ9H0Z: Cyanosis, transient neonatal
DISGK35P: Inherited hemoglobinopathy
DISCXLXP: Hemoglobinopathy Toms River
Disease Identifiers
MONDO ID
MONDO_0017238
UMLS CUI
C5190689
MedGen ID
1683555
Orphanet ID
280615
SNOMED CT ID
782880001

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
HBG2 OT4J48JJ Supportive Autosomal dominant [1]
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References

1 A hemoglobin variant associated with neonatal cyanosis and anemia. N Engl J Med. 2011 May 12;364(19):1837-43. doi: 10.1056/NEJMoa1013579.