Spondyloenchondrodysplasia with immune dysregulation
MONDO:0016763
spondylometaphyseal dysplasia
is_a
MONDO:0023603
hereditary disorder of connective tissue
is_a
MONDO:0957408
type 1 interferonopathy of childhood
is_a
Roifman Immunoskeletal syndrome
exact
SEM
related
SPENCD
exact
SPENCDI
exact
Spondyloenchondrodysplasia with immune dysregulation
exact
combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia
exact
spondyloenchondrodysplasia
exact
spondyloenchondrodysplasia with immune dysregulation
exact
spondyloenchondromatosis
exact
spondylometaphyseal dysplasia with combined immunodeficiency
exact
spondylometaphyseal dysplasia with enchondromatous changes
exact