OBO ID: DOID:0080362
Term Name: X-linked spondyloepiphyseal dysplasia tarda Search Ontology:
Synonyms:
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. https://ghr.nlm.nih.gov/condition/x-linked-spondyloepiphyseal-dysplasia-tarda
References:
Ontology: Human Disease   ( DOID:0080362 )
Relationships
is a type of:
OTHER X-linked spondyloepiphyseal dysplasia tarda PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TRAPPC2 Spondyloepiphyseal dysplasia tarda 313400
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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