ZFIN Human Disease: congenital symmetric circumferential skin creases 1

OBO ID: DOID:0112242

Term Name:	congenital symmetric circumferential skin creases 1		Search Ontology:
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:	OMIM:156610
Ontology:	Human Disease ( DOID:0112242 )

Relationships

is a type of:	autosomal dominant disease multiple benign circumferential skin creases on limbs autosomal dominant disease multiple benign circumferential skin creases on limbs Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TUBB	tubb5	Symmetric circumferential skin creases, congenital, 1	156610

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None