loading...| Preferred Name | PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE | |
| Synonyms |
FAMILIAL RECURRENT ARTHRITIS PAPAS PAPA SYNDROME FRA |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/604416 |
|
| altLabel |
FAMILIAL RECURRENT ARTHRITIS PAPAS PAPA SYNDROME FRA |
|
| cui |
C1858361 |
|
| Gene Locus |
15q24-q25.1 |
|
| Gene Symbol |
PSTPIP1 CD2BP1 PAPAS PSTPIP |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU042683 http://purl.bioontology.org/ontology/OMIM/MTHU004717 http://purl.bioontology.org/ontology/OMIM/MTHU042684 http://purl.bioontology.org/ontology/OMIM/MTHU004718 http://purl.bioontology.org/ontology/OMIM/MTHU004715 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
604416 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE |
|
| Scope Statement |
PAPA syndrome is an acronym for Pyogenic sterile Arthritis, Pyoderma gangrenosum, Acne [MISCELLANEOUS] Onset of acne in adolescence, persists into adulthood [MISCELLANEOUS] Caused by mutation in the proline/serine/threonine phosphatase-interacting protein 1 (PSTPIP1, 606347.0001) [MOLECULAR BASIS] Onset of arthritis in early childhood [MISCELLANEOUS] |
|
| tui |
T047 |