loading...| Preferred Name |
DIABETES AND DEAFNESS, MATERNALLY INHERITED |
|
| Synonyms |
NIDDM WITH DEAFNESS |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/520000 |
|
| altLabel |
NIDDM WITH DEAFNESS DIABETES MELLITUS, TYPE II, WITH DEAFNESS DIABETES-DEAFNESS SYNDROME, MATERNALLY TRANSMITTED BALLINGER-WALLACE SYNDROME NONINSULIN-DEPENDENT DIABETES MELLITUS WITH DEAFNESS MIDD |
|
| cui |
C0342289 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU036444 http://purl.bioontology.org/ontology/OMIM/MTHU002042 http://purl.bioontology.org/ontology/OMIM/MTHU016550 http://purl.bioontology.org/ontology/OMIM/MTHU028982 http://purl.bioontology.org/ontology/OMIM/MTHU038352 http://purl.bioontology.org/ontology/OMIM/MTHU028985 http://purl.bioontology.org/ontology/OMIM/MTHU036362 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU002478 http://purl.bioontology.org/ontology/OMIM/MTHU028986 http://purl.bioontology.org/ontology/OMIM/MTHU000509 http://purl.bioontology.org/ontology/OMIM/MTHU018247 http://purl.bioontology.org/ontology/OMIM/MTHU028984 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
520000 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
DIABETES AND DEAFNESS, MATERNALLY INHERITED |
|
| Scope Statement |
Onset of deafness and diabetes in adulthood [MISCELLANEOUS] Caused by mutation in the mitochondrial tRNA-lysine gene (MTTK, 590060.0005) [MOLECULAR BASIS] Caused by mutation in the mitochondrial tRNA-glutamic acid gene (MTTE, 590025.0001) [MOLECULAR BASIS] Variable features [MISCELLANEOUS] Caused by mutation in the mitochondrial tRNA-leucine 1 gene (MTTL1, 590050.0001) [MOLECULAR BASIS] |
|
| tui |
T047 |