Nonsyndromic congenital nail disorder 3- MedGen UID:
- 107463
- •Concept ID:
- C0544855
- •
- Congenital Abnormality
Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the PLCD1 gene.
Tooth agenesis, selective, 3- MedGen UID:
- 410035
- •Concept ID:
- C1970291
- •
- Disease or Syndrome
Selective tooth agenesis-3 (STHAG3) is an autosomal dominant disorder characterized mostly by agenesis of any or all molars, particularly the second molars. Teeth in the premolar, canine, and incisor regions may also be affected. There may be a history of missing primary teeth (Lammi et al., 2003, Kim et al., 2006).
For a general phenotypic description and a discussion of genetic heterogeneity of selective tooth agenesis, see STHAG1 (106600).
Hypotrichosis 13- MedGen UID:
- 863053
- •Concept ID:
- C4014616
- •
- Disease or Syndrome
Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene.