Preferred Name | Polydactyly, Postaxial | |
Synonyms |
Postaxial Polydactyly, Type A Polydactyly, Postaxial, Type A1 Postaxial Polydactyly, Type B |
|
ID |
http://purl.bioontology.org/ontology/MESH/C562429 |
|
altLabel |
Postaxial Polydactyly, Type A Polydactyly, Postaxial, Type A1 Postaxial Polydactyly, Type B |
|
cui |
C3887487 C4282400 C1868120 C0220697 |
|
Has mapping qualifier | ||
HM |
D005385/Q000002 D014034/Q000002 D017689 |
|
Inverse of RB |
0 |
|
Mapped to |
http://purl.bioontology.org/ontology/MESH/D017689 |
|
MDA |
20121105 |
|
MeSH Frequency |
75 |
|
MMR |
20160929 |
|
notation |
C562429 |
|
prefLabel |
Polydactyly, Postaxial |
|
SC |
3 |
|
Scope Statement |
Polydactyly characterized by a well-formed extra digit that articulates with the fifth or a sixth metacarpal (Type A); or by a poorly developed extra digit (Type B). Both types occur at significantly higher frequency in African and African-American populations and are caused by mutations in the GLI3 gene. OMIM: 174200 |
|
TERMUI |
T800675 T809128 T800672 T800673 |
|
TH |
OMIM (2013) |
|
tui |
T047 T019 |