Metadata | |
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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://ghr.nlm.nih.gov/condition/anonychia-congenita, https://pubmed.ncbi.nlm.nih.gov/26149975/ |
Xrefs | |
Alternateids |
DOID:0050643 |
Subsets |
DO_rare_slim |
Synonyms |
anonychia congenita [EXACT] HYPONYCHIA CONGENITA [EXACT] |
Parent Relationships |