spondyloepimetaphyseal dysplasia with tracheal stenosis and ectodermal dysplasia

Term ID

DOID:0070824

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. https://pubmed.ncbi.nlm.nih.gov/42410297/

References

• MIM:621650

Ontology

Human Disease   ( DOID:0070824 )