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Metadata
ID	DOID:0070824
PURL	http://purl.obolibrary.org/obo/DOID_0070824 Copy Copied!
Name	spondyloepimetaphyseal dysplasia with tracheal stenosis and ectodermal dysplasia
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/
Xrefs	MIM:621650
SKOS	exactMatch MIM:621650
Subsets	DO_rare_slim
Synonyms	SEMDTSED [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a spondyloepimetaphyseal dysplasia
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance