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DO Term : X-linked spondyloepimetaphyseal dysplasia [DOID:0112150] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28.

synonyms:
GARD:4979,
300106,
MESH:C564714,
NCI:C188996,
SNOMEDCT_US_2023_03_01:770603000,
ORDO:93349,
SEMD X-linked,
OMIM:300106,
SEMDX,
UMLS_CUI:C1848097

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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