Search Ontology:
Human Disease

congenital symmetric circumferential skin creases 1

Term ID
DOID:0112242
Synonyms
  • CSCSC1
Definition
A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the TUBB gene on chromosome 6p21.33. https://pubmed.ncbi.nlm.nih.gov/26637975/
References
Ontology
Human Disease   ( DOID:0112242 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models