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Metadata
ID DOID:0080362
Name spondyloepiphyseal dysplasia tarda
Definition A spondyloepimetaphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the SEDL gene on chromosome Xp22.
https://ghr.nlm.nih.gov/condition/x-linked-spondyloepiphyseal-dysplasia-tarda
Xrefs

OMIM:313400

ORDO:93284

Synonyms

X-linked spondyloepiphyseal dysplasia tarda [EXACT]

Parent Relationships

is_a spondyloepimetaphyseal dysplasia

is_a X-linked recessive disease

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