Search Ontology:
Human Disease
nonsyndromic congenital nail disorder 4
- Term ID
- DOID:0080082
- Synonyms
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- 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
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- GARD:12930
- MESH:C536377
- MIM:206800
- Ontology
- Human Disease ( DOID:0080082 )
- is a type of
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Genes Involved
Zebrafish Models