loading...| Preferred Name |
Pachyonychia Congenita |
|
| Synonyms |
Jackson-Lawler Syndrome (Pc-2) Jadassohn Lewandowski Syndrome (Pc 1) |
|
| Definitions |
A subtype of pachyonychia congenita that is associated with mutations in the gene for KERATIN-16 and the gene for KERATIN-6A. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D053549 |
|
| altLabel |
Jackson-Lawler Syndrome (Pc-2) Pachyonychia Congenita Type 1 Pachyonychia, Congenital Congenital Pachyonychia Pachyonychia Congenita, Jackson Lawler Type Pachyonychia Congenita, Jadassohn-Lewandowsky Type Jadassohn-Lewandowsky Syndrome Pachyonychia Congenita, Type 2 Jackson Lawler Syndrome (Pc 2) Pachyonychia Congenita Syndrome Pachyonychia Congenita Jackson Lawler Type Type 1 Pachyonychia Congenita Pachyonychia Congenita, Type 1 Syndrome, Jadassohn-Lewandowski (Pc-1) Jackson-Lawler Type Pachyonychia Congenita Type 2 Pachyonychia Congenita Syndrome, Jackson-Lawler (Pc-2) Jadassohn-Lewandowski Syndrome (Pc-1) Pachyonychia Congenita, Jadassohn Lewandowsky Type Jadassohn Lewandowsky Syndrome Pachyonychia Congenita Tarda, Type 1 Pachyonychia Congenita, Jackson-Lawler Type Jackson Lawler Type Pachyonychia Congenita Jadassohn Lewandowski Syndrome (Pc 1) |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0265334 C1721007 C1706595 |
|
| DC |
1 |
|
| definition |
A subtype of pachyonychia congenita that is associated with mutations in the gene for KERATIN-16 and the gene for KERATIN-6A. A subtype of pachyonychia congenita that is associated with mutations in the genes for KERATIN-17 or KERATIN-6B. A group of inherited ectodermal dysplasias whose most prominent clinical feature is hypertrophic nail dystrophy resulting in PACHYONYCHIA. Several specific subtypes of pachyonychia congenita have been associated with mutations in genes that encode KERATINS. |
|
| DX |
20070101 |
|
| FX |
D053553 D009264 D053537 |
|
| HN |
2007 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO |
http://purl.bioontology.org/ontology/MESH/D053537 |
|
| Machine permutation |
2007 |
|
| Mapped from | ||
| MDA |
20060705 |
|
| MMR |
20180614 |
|
| MN |
C16.131.831.350.856 C16.320.850.250.856 C17.800.804.350.856 C16.131.077.350.856 C17.800.827.250.856 C17.800.529.594 |
|
| notation |
D053549 |
|
| prefLabel |
Pachyonychia Congenita |
|
| TERMUI |
T665436 T665434 T665435 T665437 T665385 T665441 T665439 T842224 T746557 T842225 T842223 T834011 T665438 T665440 T842226 T665433 |
|
| TH |
OMIM (2013) NLM (2010) GHR (2014) NLM (2007) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |