FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

X-linked spondyloepiphyseal dysplasia tarda
Synonyms
Definitions

A spondyloepiphyseal 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.

ID

http://purl.obolibrary.org/obo/DOID_0080362

definition

A spondyloepiphyseal 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.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

X-linked spondyloepiphyseal dysplasia tarda

prefixIRI

DOID:0080362

prefLabel

X-linked spondyloepiphyseal dysplasia tarda

subClassOf

http://purl.obolibrary.org/obo/DOID_0112284

http://purl.obolibrary.org/obo/DOID_0080012

http://purl.obolibrary.org/obo/DOID_0060564

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