loading...| Preferred Name |
Noninsulin-dependent diabetes mellitus with deafness |
|
| Synonyms |
Diabetes mellitus, type 2, with deafness |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C536246 |
|
| altLabel |
Diabetes mellitus, type 2, with deafness Maternally Transmitted Diabetes-Deafness Syndrome Mitochondrial Inherited Diabetes and Deafness Maternally inherited diabetes and deafness Diabetes-deafness syndrome, maternally transmitted Diabetes and deafness, maternally inherited Diabetes Mellitus, Type II, With Deafness NIDDM with deafness Ballinger-Wallace Syndrome |
|
| cui |
C0342289 |
|
| HM |
D003924 D028361 D003638 |
|
| Inverse of RB |
0 |
|
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D003924 |
|
| MDA |
20101113 |
|
| MeSH Frequency |
88 |
|
| MMR |
20150818 |
|
| notation |
C536246 |
|
| prefLabel |
Noninsulin-dependent diabetes mellitus with deafness |
|
| SC |
3 |
|
| Scope Statement |
A mitochondrial disorder characterized by onset of SENSORINEURAL HEARING LOSS and diabetes in adulthood. Some patients may have additional features observed in mitochondrial disorders, including RETINITIS PIGMENTOSA; PTOSIS; CARDIOMYOPATHY; MUSCULAR DISEASES; KIDNEY DISEASES, and neuropsychiatric symptoms. Mutations in the MITOCHONDRIAL GENES MTTL1, MTTE, and MTTK have been identified. OMIM: 520000 |
|
| TERMUI |
T738725 T841964 T000883558 T738722 T738723 T738720 T738030 T841963 T738724 T738721 |
|
| TH |
OMIM (2013) GHR (2014) ORD (2010) |
|
| tui |
T047 |