loading...| Preferred Name |
JUVENILE ARTHRITIS |
|
| Synonyms |
JUVAR |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/618795 |
|
| altLabel |
JUVAR |
|
| cui |
C3495559 |
|
| Gene Locus |
13q14.11 |
|
| Gene Symbol |
C13orf31 JUVAR LACC1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU070894 http://purl.bioontology.org/ontology/OMIM/MTHU070888 http://purl.bioontology.org/ontology/OMIM/MTHU070892 http://purl.bioontology.org/ontology/OMIM/MTHU070891 http://purl.bioontology.org/ontology/OMIM/MTHU070887 http://purl.bioontology.org/ontology/OMIM/MTHU070886 http://purl.bioontology.org/ontology/OMIM/MTHU008388 http://purl.bioontology.org/ontology/OMIM/MTHU070889 http://purl.bioontology.org/ontology/OMIM/MTHU024815 http://purl.bioontology.org/ontology/OMIM/MTHU007362 http://purl.bioontology.org/ontology/OMIM/MTHU011706 http://purl.bioontology.org/ontology/OMIM/MTHU070890 http://purl.bioontology.org/ontology/OMIM/MTHU070893 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
618795 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
JUVENILE ARTHRITIS |
|
| Scope Statement |
Caused by mutation in the laccase (multicopper reductase) domain-containing protein-1 gene (LACC1, 613409.0001) [MOLECULAR BASIS] Remission may be difficult to achieve [MISCELLANEOUS] Clinical variability, inter- and intrafamilial [MISCELLANEOUS] Organomegaly (hepatomegaly/splenomegaly, in some patients) [MISCELLANEOUS] Arthritis may be episodic in some patients [MISCELLANEOUS] Intermittent fever persists in some patients [MISCELLANEOUS] Patients may develop contractures in affected joints [MISCELLANEOUS] |
|
| tui |
T047 |