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Browse result for congenital symmetric circumferential skin creases 1

※ introduction

    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.

Reference
DiseaseOntology: congenital symmetric circumferential skin creases 1



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD03833P0743720306
TUBB
Tubulin beta chain
Homo sapiens
PTMD06987Q1555510982
MAPRE2
Microtubule-associated protein RP/EB family member 2
Homo sapiens