loading...| Preferred Name |
Dyschromatosis symmetrica hereditaria 1 |
|
| Synonyms |
Symmetric dyschromatosis of the extremities |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C535729 |
|
| altLabel |
Symmetric dyschromatosis of the extremities Familial reticulate acropigmentation of Dohi Reticulate acropigmentation of Dohi Dyschromatosis symmetrica hereditaria |
|
| cui |
C0406775 |
|
| Has mapping qualifier | ||
| HM |
D010859/Q000151 |
|
| Inverse of RB |
0 |
|
| Mapped to | ||
| MDA |
20100825 |
|
| MeSH Frequency |
78 |
|
| MMR |
20150818 |
|
| notation |
C535729 |
|
| prefLabel |
Dyschromatosis symmetrica hereditaria 1 |
|
| SC |
3 |
|
| Scope Statement |
A hereditary autosomal dominant condition primarily observed in persons of Chinese or Japanese descent. It is characterized by hyperpigmented and hypopigmented macules on the face and dorsal aspects of the extremities that appear in infancy or early childhood. Mutations in the ADAR gene have been identified. OMIM: 127400 |
|
| TERMUI |
T737012 T737008 T737013 T737011 T737007 |
|
| TH |
OMIM (2013) ORD (2010) |
|
| tui |
T019 |