loading...| Preferred Name |
Noninsulin-dependent diabetes mellitus with deafness |
| Synonyms |
Maternally Transmitted Diabetes-Deafness Syndrome |
| ID |
http://purl.bioontology.org/ontology/MESH/C536246 |
| altLabel |
Maternally Transmitted Diabetes-Deafness Syndrome Mitochondrial Inherited Diabetes and Deafness Maternally inherited diabetes and deafness Diabetes and deafness, maternally inherited Ballinger-Wallace Syndrome Diabetes-deafness syndrome, maternally transmitted NIDDM with deafness Diabetes Mellitus, Type II, With Deafness Diabetes mellitus, type 2, with deafness |
| cui |
C0342289 |
| HM |
D003924 D028361 D003638 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D028361 |
| MDA |
20101113 |
| MeSH Frequency |
41 |
| 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 |
T738724 T738722 T738720 T841963 T738030 T738721 T738725 T738723 T841964 T000883558 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |