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nonsyndromic congenital nail disorder 4
Summary
- Synonym
-
- HYPONYCHIA CONGENITA
- 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.
- Super Class
- autosomal recessive disease nonsyndromic congenital nail disorder
External Links
- Disease Ontology
- DOID:0080082
- Mondo Disease Ontology
- MeSH
- GARD
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q2I0M5 | R-spondin-4 |
