Medical Subject Headings

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/MESH/C536246
http://purl.bioontology.org/ontology/MESH/C536246
Preferred Name

Noninsulin-dependent diabetes mellitus with deafness
Synonyms
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
Type http://www.w3.org/2002/07/owl#Class

All Properties

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
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prefLabel
Noninsulin-dependent diabetes mellitus with deafness
TH
OMIM (2013)
GHR (2014)
ORD (2010)
notation
C536246
MMR
20150818
MeSH Frequency
88
Semantic type UMLS property
HM
D003924
D028361
D003638
Inverse of RB
0
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
MDA
20101113
SC
3
type
Mapped to
tui
T047
cui
C0342289
TERMUI
T738725
T841964
T000883558
T738722
T738723
T738720
T738030
T841963
T738724
T738721
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