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DO Term : congenital symmetric circumferential skin creases 2 [DOID:0112243] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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 MAPRE2 gene on chromosome 18q12.1-q12.2.
  • synonyms:
  • CSCSC2,
  • 616734,
  • OMIM:616734
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents