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loading...| Preferred Name |
Witkop syndrome |
| Synonyms |
Dysplasia of nails with hypodontia |
| ID |
http://purl.bioontology.org/ontology/MESH/C536736 |
| altLabel |
Dysplasia of nails with hypodontia Tooth and nail syndrome Nail Dysplasia With Hypodontia Tooth-And-Nail Syndrome |
| cui |
C0406735 |
| HM |
D000848 D009264 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
3 |
| MMR |
20120824 |
| notation |
C536736 |
| prefLabel |
Witkop syndrome |
| SC |
3 |
| Scope Statement |
Autosomal dominant disorder characterized by nail dysplasia and congenitally missing permanent teeth; associated with mutations in the MSX1 gene |
| TERMUI |
T740270 T801818 T801817 T740272 T740271 |
| TH |
ORD (2010) OMIM (2013) |
| tui |
T047 |
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