| Metadata | |
|---|---|
| ID | DOID:0080082 |
| Name | nonsyndromic congenital nail disorder 4 |
| 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. https://pubmed.ncbi.nlm.nih.gov/26149975/, https://ghr.nlm.nih.gov/condition/anonychia-congenita |
| Xrefs | |
| Alternateids |
DOID:0050643 |
| Subsets |
DO_rare_slim |
| Synonyms |
anonychia congenita [EXACT] HYPONYCHIA CONGENITA [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |