Nail disorder, nonsyndromic congenital, 10

Preferred Label : Nail disorder, nonsyndromic congenital, 10;

Obsolete resource : true;

Moved to : 161050;

Symbol : NDNC10;

CISMeF acronym : NDNC10;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Onychauxis, hyponychia, and onycholysis; Claw-shaped nails;

Description : Nonsyndromic congenital nail disorder-10 is characterized by onychauxis (thick nails), hyponychia, and onycholysis of all nails, with claw-shaped fingernails in some individuals (summary by Frojmark et al., 2011). For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of Drosophila frizzled-6 gene (FZD6, 603409.0001);

Prefixed ID : 614157;

Details

Origin ID

614157;

UMLS CUI

C3279974;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive nail dysplasia [ORDO Disease]
Currated CISMeF NLP mapping
- nonsyndromic congenital nail disorder 10 [Disease (Nov.)]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Onychauxis [HPO term]
- Onycholysis [HPO term]
ORDO concept(s)
- Autosomal recessive nail dysplasia [ORDO Disease]
See also inter- (CISMeF)
- FZD6 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- nonsyndromic congenital nail disorder 10 [DO Concept]
- nonsyndromic congenital nail disorder 10 [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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