General Information of Disease (ID: DISFF0HG)

Disease Name Familial monosomy 7 syndrome
Synonyms monosomy 7 myelodysplasia and leukemia syndrome; monosomy 7 myelodysplasia and leukaemia syndrome
Definition
A rare neoplastic disease characterized by infantile to childhood onset of evidence of bone marrow insufficiency/failure associated with increased risk for myelodysplastic syndrome or acute myeloid leukemia. Most patients present with petechiae, easy bruising, or anemia. Rapid progression is common, and prognosis is generally poor.
Disease Hierarchy
DIS2NCLN: Myeloproliferative syndrome
DISYKSRF: Genetic disease
DISFF0HG: Familial monosomy 7 syndrome
Disease Identifiers
MONDO ID
MONDO_0044645
UMLS CUI
C5681220
MedGen ID
1826116
Orphanet ID
495930