OBO ID: DOID:0080082
Term Name: nonsyndromic congenital nail disorder 4 Search Ontology:
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:
Ontology: Human Disease   (DOID:0080082)
OTHER nonsyndromic congenital nail disorder 4 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RSPO4 Anonychia congenita 206800
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None