OBO ID: DOID:0060490
Term Name: Schimke immuno-osseous dysplasia Search Ontology:
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)
OTHER Schimke immuno-osseous dysplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SMARCAL1 Schimke immunoosseous dysplasia 242900
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None