nonsyndromic congenital nail disorder 4

Term ID

DOID:0080082

Synonyms

• anonychia congenita

Definition

A nonsyndromic congenital nail disorder that is characterized by complete absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies, and that has_material_basis_in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13. (2)

References

• GARD:12930
• MESH:C536377
• OMIM:206800

Ontology

Human Disease   ( DOID:0080082 )