congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
MONDO:0009332
congenital hematological disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0015708
immuno-osseous dysplasia
is_a
MONDO:0018234
dysostosis
is_a
MONDO:0019054
congenital limb malformation
is_a
MONDO:0019060
bone neoplasm
is_a
MONDO:0019453
myelodysplastic syndrome with multilineage dysplasia
is_a
MONDO:0023603
hereditary disorder of connective tissue
is_a
MYSM1 deficiency
exact