Search Ontology:
Human Disease

Schimke immuno-osseous dysplasia

Term ID
DOID:0060490
Synonyms
  • immunoosseous dysplasia Schimke type
  • Schimke immunoosseous dysplasia
  • Schimke syndrome
  • spondyloepiphyseal dysplasia - nephrotic syndrome
Definition
A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene. (3)
References
Ontology
Human Disease   ( DOID:0060490 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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