Preferred Name |
Knuckle pads, leuconychia and sensorineural deafness |
Synonyms |
Knuckle Pads, Leukonychia, and Sensorineural Deafness |
ID |
http://purl.bioontology.org/ontology/MESH/C537210 |
altLabel |
Knuckle Pads, Leukonychia, and Sensorineural Deafness Bart Pumphrey syndrome Bart-Pumphrey Syndrome Knuckle pads, leukonychia, deafness, and keratosis palmoplantaris |
cui |
C0266004 |
HM |
D000015 D006319 D007645 |
Inverse of RB |
0 |
Mapped to |
http://purl.bioontology.org/ontology/MESH/D006319 |
MDA |
20100825 |
MeSH Frequency |
1 |
MMR |
20131024 |
notation |
C537210 |
prefLabel |
Knuckle pads, leuconychia and sensorineural deafness |
SC |
3 |
TERMUI |
T827451 T800933 T827450 T741823 T741822 |
TH |
ORD (2010) OMIM (2013) GHR (2014) |
tui |
T019 |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.bioontology.org/ontology/OMIM/149200 | Online Mendelian Inheritance in Man | CUI | |
http://purl.bioontology.org/ontology/OMIM/121011 | Online Mendelian Inheritance in Man | CUI |