| General Information | |||
|---|---|---|---|
| Term | nonsyndromic congenital nail disorder 4 | ID (Ontology) | DOID:0080082 (Human Disease) |
| 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. | ||
| Also Known As | "anonychia congenita" ; "HYPONYCHIA CONGENITA" | ||
| Comment | |||
| Links to External Ontologies | |||
| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
|||
|
No relevant statements available
|
|||
|
||||||
autosomal genetic disease |__autosomal recessive disease____________ physical disorder | |__nonsyndromic congenital nail disorder__| nail disease | |__nonsyndromic congenital nail disorder__| nonsyndromic congenital nail disorder 4 |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a |
autosomal recessive disease nonsyndromic congenital nail disorder |
||
| Part of | |||
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
External Crossreferences & Linkouts
|
|||
|
GARD:12930 MESH:C536377 MIM:206800 |
|||