spondyloepimetaphyseal dysplasia, sponastrime type
A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation.
MONDO:0016761
spondyloepiphyseal dysplasia
excluded_subClassOf
MONDO:0100510
spondyloepimetaphyseal dysplasia
is_a
short limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation
related
sponastrime dysplasia
exact
spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia
exact
spondylar and nasal changes with triations of the metaphyses (SPONASTRIME) dysplasia
exact
spondyloepimetaphyseal dysplasia Sponastrime type
related
spondyloepimetaphyseal dysplasia, Sponastrime type
exact
spondyloepimetaphyseal dysplasia, sponastrime type
exact