loading...| Preferred Name | PACHYONYCHIA CONGENITA 2 | |
| Synonyms |
PC2 PACHYONYCHIA CONGENITA, JACKSON-LAWLER TYPE, FORMERLY |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/167210 |
|
| altLabel |
PC2 PACHYONYCHIA CONGENITA, JACKSON-LAWLER TYPE, FORMERLY |
|
| cui |
C1721007 |
|
| Gene Locus |
17q12-q21 |
|
| Gene Symbol |
PC2 KRT17 PCHC1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU036684 http://purl.bioontology.org/ontology/OMIM/MTHU016420 http://purl.bioontology.org/ontology/OMIM/MTHU016416 http://purl.bioontology.org/ontology/OMIM/MTHU016421 http://purl.bioontology.org/ontology/OMIM/MTHU016419 http://purl.bioontology.org/ontology/OMIM/MTHU004144 http://purl.bioontology.org/ontology/OMIM/MTHU002945 http://purl.bioontology.org/ontology/OMIM/MTHU013230 http://purl.bioontology.org/ontology/OMIM/MTHU016415 http://purl.bioontology.org/ontology/OMIM/MTHU016418 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
167210 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
PACHYONYCHIA CONGENITA 2 |
|
| Scope Statement |
Caused by mutations in the keratin 6B gene (KRT6B, 148042.0001) [MOLECULAR BASIS] Genetic heterogeneity [MISCELLANEOUS] Caused by mutations in the keratin 17 gene (KRT17, 148069.0001) [MOLECULAR BASIS] |
|
| tui |
T047 |