loading...| Preferred Name | INSULINOMATOSIS AND DIABETES MELLITUS | |
| Synonyms |
ISLET CELL ADENOMATOSIS INSDM |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/147630 |
|
| altLabel |
ISLET CELL ADENOMATOSIS INSDM |
|
| cui |
C1578917 |
|
| Gene Locus |
8q24 |
|
| Gene Symbol |
INSDM RIPE3B1 MAFA |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU003880 http://purl.bioontology.org/ontology/OMIM/MTHU036798 http://purl.bioontology.org/ontology/OMIM/MTHU067217 http://purl.bioontology.org/ontology/OMIM/MTHU000368 http://purl.bioontology.org/ontology/OMIM/MTHU060072 http://purl.bioontology.org/ontology/OMIM/MTHU011903 http://purl.bioontology.org/ontology/OMIM/MTHU067216 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
147630 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
INSULINOMATOSIS AND DIABETES MELLITUS |
|
| Scope Statement |
Caused by mutation in the MAF bZIP transcription factor A gene (MAFA, 610303.0001) [MOLECULAR BASIS] Onset in third to fifth decade of life in most patients [MISCELLANEOUS] |
|
| tui |
T191 |