spondyloepimetaphyseal dysplasia with tracheal stenosis and ectodermal dysplasia Disease Ontology Browser

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Disease Ontology Browser

spondyloepimetaphyseal dysplasia with tracheal stenosis and ectodermal dysplasia (DOID:0070824)
Alliance: disease page
Synonyms: SEMDTSED
Alt IDs: OMIM:621650
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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