loading...| Preferred Name | BLAU SYNDROME | |
| Synonyms |
GRANULOMATOUS INFLAMMATORY ARTHRITIS, DERMATITIS, AND UVEITIS, FAMILIAL BLAUS GRANULOMATOSIS, FAMILIAL JUVENILE SYSTEMIC JABS SYNDROME EOS GRANULOMATOSIS, FAMILIAL, BLAU TYPE ARTHROCUTANEOUVEAL GRANULOMATOSIS ACUG SARCOIDOSIS, EARLY-ONSET |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/186580 |
|
| altLabel |
GRANULOMATOUS INFLAMMATORY ARTHRITIS, DERMATITIS, AND UVEITIS, FAMILIAL BLAUS GRANULOMATOSIS, FAMILIAL JUVENILE SYSTEMIC JABS SYNDROME EOS GRANULOMATOSIS, FAMILIAL, BLAU TYPE ARTHROCUTANEOUVEAL GRANULOMATOSIS ACUG SARCOIDOSIS, EARLY-ONSET |
|
| cui |
C5201146 C1861303 C1836122 |
|
| Gene Locus |
16q12 |
|
| Gene Symbol |
CD NOD2 BLAUS CARD15 IBD1 YAOS |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU007399 http://purl.bioontology.org/ontology/OMIM/MTHU026373 http://purl.bioontology.org/ontology/OMIM/MTHU004639 http://purl.bioontology.org/ontology/OMIM/MTHU026376 http://purl.bioontology.org/ontology/OMIM/MTHU005931 http://purl.bioontology.org/ontology/OMIM/MTHU026379 http://purl.bioontology.org/ontology/OMIM/MTHU026380 http://purl.bioontology.org/ontology/OMIM/MTHU014378 http://purl.bioontology.org/ontology/OMIM/MTHU026375 http://purl.bioontology.org/ontology/OMIM/MTHU004894 http://purl.bioontology.org/ontology/OMIM/MTHU000155 http://purl.bioontology.org/ontology/OMIM/MTHU026377 http://purl.bioontology.org/ontology/OMIM/MTHU005934 http://purl.bioontology.org/ontology/OMIM/MTHU000680 http://purl.bioontology.org/ontology/OMIM/MTHU026372 http://purl.bioontology.org/ontology/OMIM/MTHU026371 http://purl.bioontology.org/ontology/OMIM/MTHU026370 http://purl.bioontology.org/ontology/OMIM/MTHU026381 http://purl.bioontology.org/ontology/OMIM/MTHU000189 http://purl.bioontology.org/ontology/OMIM/MTHU026378 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| Moved from |
609464 |
|
| notation |
186580 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
BLAU SYNDROME |
|
| Scope Statement |
Variable manifestation of features [MISCELLANEOUS] Onset in first 2 decades of life [MISCELLANEOUS] Caused by mutation in the nucleotide-binding oligomerization domain protein 2 gene (NOD2, 605956.0004). [MOLECULAR BASIS] Favorable response to intermittent, low-dose steroid therapy [MISCELLANEOUS] |
|
| tui |
T047 |