loading...| Preferred Name |
Anonychia congenita |
| Synonyms |
Anonychia |
| ID |
http://purl.bioontology.org/ontology/MESH/C536377 |
| altLabel |
Anonychia Hyponychia congenita |
| cui |
C0265998 |
| Has mapping qualifier | |
| HM |
D009264/Q000151 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20101113 |
| MeSH Frequency |
27 |
| MMR |
20160929 |
| notation |
C536377 |
| prefLabel |
Anonychia congenita |
| SC |
3 |
| Scope Statement |
The absence of fingernails and toenails (anonychia) and its milder phenotypic variant (hyponychia), are usually associated with other skeletal and limb abnormalities in genetic syndromes. Isolated nonsyndromic cases are less common and may show autosomal recessive inheritance and variable expression within a given family. The nail phenotypes can vary from no nail field to a nail field of reduced size with an absent or rudimentary nail. Nonsyndromic cases are associated with mutations in the R-spondin 4 (RSPO4) gene. OMIM: 610573 |
| TERMUI |
T739141 T739140 T739142 |
| TH |
ORD (2010) OMIM (2013) |
| tui |
T019 |