Term Name: | nonsyndromic congenital nail disorder 4 |
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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 ) |