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DOID:0080082 - nonsyndromic congenital nail disorder 4
Disease Ontology 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.
Synonyms: anonychia congenita, HYPONYCHIA CONGENITA
Xenbase Genes :
MONDO:0008798 - nonsyndromic congenital nail disorder 4 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
nail disease (is_a),
nonsyndromic congenital nail disorder (is_a)