Search Ontology:
Human Disease

Malan syndrome

Term ID
DOID:0112102
Synonyms
  • MALNS
  • Sotos syndrome 2
  • SOTOS2
Definition
A bone development disease that is characterized by overgrowth, advanced bone age, macrocephaly, and dysmorphic facial features and that has_material_basis_in heterozygous mutation in the NFIX gene on chromosome 19p13.13. https://pubmed.ncbi.nlm.nih.gov/20673863/
References
Ontology
Human Disease   ( DOID:0112102 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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