Preferred Label : Nail disorder, nonsyndromic congenital, 7;
Symbol : NDNC7;
CISMeF acronym : NDNC7;
Type : Phenotype or locus, molecular basis unknown;
Alternative titles and symbols : Onychodysplasia, isolated congenital;
Description : Isolated congenital onychodysplasia, here referred to as nonsyndromic congenital nail
disorder-7 (NDNC7), is characterized by longitudinal streaks, thinning, and impaired
formation of the nail plates leading to increased vulnerability of the free nail margins.
The most characteristic finding is a conspicuous reddish dome-shaped prominence of
the proximal nail plate from which the longitudinal ridges originate, but this is
present in only about half of patients. In most cases, all fingernails and toenails
are involved, with some accentuation of the changes in the thumb nails and great toe
nails (summary by Hamm et al., 2000 and Krebsova et al., 2000). For a list of other
nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity,
see NDNC1 (161050).;
Inheritance : Autosomal dominant;
Prefixed ID : %605779;
Origin ID : 605779;
UMLS CUI : C5574953;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
