ZFIN Human Disease: nonsyndromic congenital nail disorder 4

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:	GARD:12930 MESH:C536377 OMIM:206800
Ontology:	Human Disease ( DOID:0080082 )

Relationships

is a type of:	autosomal recessive disease nonsyndromic congenital nail disorder autosomal recessive disease nonsyndromic congenital nail disorder Show first 5 Terms

OTHER nonsyndromic congenital nail disorder 4 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
RSPO4	rspo4	Anonychia congenita	206800

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None