loading...| Preferred Name |
PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE |
| Synonyms |
PAPA SYNDROME |
| ID |
http://purl.bioontology.org/ontology/OMIM/604416 |
| altLabel |
PAPA SYNDROME PAPAS FAMILIAL RECURRENT ARTHRITIS FRA |
| cui |
C1858361 |
| Gene Locus |
15q24-q25.1 |
| Gene Symbol |
PAPAS CD2BP1 PSTPIP PSTPIP1 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU038674 http://purl.bioontology.org/ontology/OMIM/MTHU004718 http://purl.bioontology.org/ontology/OMIM/MTHU038673 http://purl.bioontology.org/ontology/OMIM/MTHU042684 http://purl.bioontology.org/ontology/OMIM/MTHU042683 |
| 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 arthritis in early childhood [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] |
| tui |
T047 |