Nail disorder, nonsyndromic congenital, 6

Preferred Label : Nail disorder, nonsyndromic congenital, 6;

Symbol : NDNC6;

CISMeF acronym : NDNC6;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Anonychia, partial; Anonychia/hyponychia and onychodystrophy;

Description : Congenital absence of the nails is a rare condition. Some pedigrees display complete congenital absence of the nails (see, e.g., NDNC4, 206800), whereas in other pedigrees there is only partial congenital anonychia, with the thumbs and great toes most severely affected and progressively less severe changes in the more lateral digits (summary by Charteris, 1918). This form of nail disorder is referred to here as nonsyndromic congenital nail disorder-6 (NDNC6). For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050).;

Inheritance : Autosomal dominant;

Prefixed ID : %107000;

Details

Origin ID

107000;

UMLS CUI

C3275544;

Broader ORDO disease(s)
- Isolated congenital anonychia [ORDO Disease]
Currated CISMeF NLP mapping
- Anonychia onychodystrophy [MeSH concept]
- Anonychia-onychodystrophy syndrome [ORDO Disease]
- anonychia onychodystrophy [MeSH Supplementary Concept]
- nonsyndromic congenital nail disorder 6 [DO Concept]
DO Cross reference
- nonsyndromic congenital nail disorder 6 [DO Concept]
HPO term(s)
- Anonychia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Congenital hip dislocation [HPO term]
- Nail dysplasia [HPO term]
- Nail dystrophy [HPO term]
- Tapered distal phalanges of finger [HPO term]
ORDO concept(s)
- Anonychia-onychodystrophy syndrome [ORDO Disease]
- Isolated congenital anonychia [ORDO Disease]
See also inter- (CISMeF)
- Isolated congenital anonychia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- nonsyndromic congenital nail disorder 6 [DO Concept]

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