dyskeratosis congenita
Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.
MONDO:0001713
inherited aplastic anemia
excluded_subClassOf
MONDO:0016382
hereditary poikiloderma
excluded_subClassOf
MONDO:0018035
obsolete syndrome with combined immunodeficiency (obsolete MONDO:0018035)
excluded_subClassOf
MONDO:0019289
hyperpigmentation of the skin
excluded_subClassOf
MONDO:0020063
obsolete malformation syndrome with hamartosis (obsolete MONDO:0020063)
excluded_subClassOf
MONDO:0020119
X-linked syndromic intellectual disability
excluded_subClassOf
MONDO:0020195
obsolete excretory apparatus of the lacrimal system anomaly (obsolete MONDO:0020195)
excluded_subClassOf
MONDO:0020204
conjunctival tumor
excluded_subClassOf
MONDO:0015356
hereditary neoplastic syndrome
is_a
MONDO:0019287
ectodermal dysplasia syndrome
is_a
DC
exact
DKC
exact
Hoyeraal-Hreidarsson syndrome
related
Zinsser Cole Engman syndrome
related
Zinsser-Engman-Cole syndrome
exact
dyskeratosis congenita
exact
SPAC1782.10c SPAC19G12.13c SPBC29A10.09c SPBC29A3.14c SPNCRNA.214 SPAC6F6.16c SPAP27G11.13c SPAC29A4.04c SPCC1020.09 SPAC15E1.04