Preferred Name |
Keratosis palmoplantaris with periodontopathia and onychogryposis |
|
Synonyms |
Haim-Munk syndrome |
|
ID |
http://purl.bioontology.org/ontology/MESH/C537627 |
|
altLabel |
Haim-Munk syndrome Cochin Jewish disorder |
|
cui |
C1855627 |
|
HM |
D010214 D030981 |
|
Inverse of RB |
0 |
|
Mapped to | ||
MDA |
20100825 |
|
MeSH Frequency |
4 |
|
MMR |
20121105 |
|
notation |
C537627 |
|
prefLabel |
Keratosis palmoplantaris with periodontopathia and onychogryposis |
|
SC |
3 |
|
Scope Statement |
Rare autosomal recessive disorder characterized by congenital PALMOPLANTAR KERATOSIS, flatfoot, onychogryphosis, PERIODONTITIS, ARACHNODACTYLY, and ACROOSTEOLYSIS. |
|
TERMUI |
T743210 T743211 T743212 |
|
TH |
OMIM (2013) ORD (2010) |
|
tui |
T047 |
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