- Onycholysis of distal fingernails (HP:0008400): Detachment of the distal fingernails from the nail bed. Evidence: PCS. (PMID:15200512)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:15200512)
- Absent toenail (HP:0001802): Congenital absence of the toenail. Evidence: PCS. (PMID:15200512)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: PCS. (PMID:15200512)
These phenotypes are associated with the disease nonsyndromic congenital nail disorder 9 (OMIM:614149).