Shwachman-Diamond syndrome
Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.
MONDO:0000841
obsolete metaphyseal dysplasia (obsolete MONDO:0000841)
excluded_subClassOf
MONDO:0001713
inherited aplastic anemia
excluded_subClassOf
MONDO:0002356
pancreas disorder
excluded_subClassOf
MONDO:0015945
obsolete polymalformative genetic syndrome with increased risk of developing cancer (obsolete MONDO:0015945)
excluded_subClassOf
MONDO:0015978
functional neutrophil defect
excluded_subClassOf
MONDO:0019693
obsolete multiple metaphyseal dysplasia (obsolete MONDO:0019693)
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0006025
autosomal recessive disease
is_a
SDS
exact
Schwachman-Diamond syndrome
exact
Schwachmann-Diamond syndrome
exact
Shwachman Diamond Syndrome
exact
Shwachman syndrome
exact
Shwachman-Bodian-Diamond syndrome
exact
Shwachman-Diamond syndrome
exact
congenital lipomatosis of pancreas
related
pancreatic insufficiency and bone marrow dysfunction
exact
SPBC21C3.19 SPCC553.08c SPAC4F8.03