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Revesz syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.
Uniprot Description A disease characterized by bone marrow hypoplasia, nail dystrophy, fine sparse hair, fine reticulate skin pigmentation, oral leukoplakia, bilateral exudative retinopathy, cerebellar hypoplasia, and growth retardation.
Mondo Term and Equivalent IDs
MONDO:0009990:  Revesz syndrome
GARD:0004695: 
MESH:C538371: 
NCIT:C152064: 
Orphanet:3088: 
SCTID:723512008: 
UMLS:C1327916: