Term Name:	spondyloepimetaphyseal dysplasia with tracheal stenosis and ectodermal dysplasia
Synonyms:	SEMDTSED
Definition:	A spondyloepimetaphyseal dysplasia characterized by short stature, a general delay in bone maturation and epiphyseal ossification, and features suggestive of ectodermal dysplasia, including conical teeth and/or early tooth decay and sparse hair, that has_material_basis_in homozygous or compound heterozygous mutation in the MIMS1 gene on chromosome 18p11.
Ontology:	Human Disease [DOID:0070824]   ( DOID:0070824 )