You are using an outdated browser. Please upgrade your browser to improve your experience.

nonsyndromic congenital nail disorder 4

Disease Summary
Associated Targets (2)
Tbio

2


Mondo Description Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene.
Uniprot Description A nail disorder characterized by congenital anonychia or its milder phenotypic variant hyponychia. Anonychia/hyponychia is the absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies.
Disease Ontology Description A nail disease that is characterized by absence of fingernails and toenails, has_material_basis_in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13.
Mondo Term and Equivalent IDs
MONDO:0008798:  nonsyndromic congenital nail disorder 4
MESH:C536377: 
Orphanet:94150: