Term Name: nonsyndromic congenital nail disorder 4
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.
Ontology: Human Disease [DOID:0080082]   ( DOID:0080082 )

Relationships
is a type of: autosomal recessive disease nonsyndromic congenital nail disorder