Details of Disease

General Information of Disease (ID: DIS3J2EY)

Disease Name Pancytopenia-developmental delay syndrome
Synonyms BMFS2; bone marrow failure syndrome 2; pancytopenia-developmental delay syndrome; bone marrow failure syndrome type 2; Trilineage bone marrow failure-developmental delay syndrome
Disease Hierarchy
DISO9M7N: Inherited aplastic anemia
DISVUY1J: Bone marrow failure syndrome
DIS3J2EY: Pancytopenia-developmental delay syndrome
Disease Identifiers
MONDO ID
MONDO_0014317
UMLS CUI
C3810350
OMIM ID
615715
MedGen ID
816680
Orphanet ID
401764

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
ERCC6L2 OTWFECWG Definitive Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.