Search Ontology:
Human Disease

Schinzel Giedion syndrome

Term ID
DOID:0070509
Synonyms
  • Schinzel-Giedion midface retraction syndrome
  • SGS
Definition
An ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that has_material_basis_in heterozygous mutation in the SETBP1 gene on chromosome 18q12.3. (2)
References
Ontology
Human Disease   ( DOID:0070509 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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