loading...| Preferred Name |
Neuropathy ataxia and retinitis pigmentosa |
| Synonyms |
Neuropathy, Ataxia, and Retinitis Pigmentosa |
| ID |
http://purl.bioontology.org/ontology/MESH/C537396 |
| altLabel |
Neuropathy, Ataxia, and Retinitis Pigmentosa NARP syndrome Neurogenic Muscle Weakness, Ataxia, and Retinitis Pigmentosa Neuropathy, Ataxia, Retinitis Pigmentosa syndrome |
| cui |
C1328349 |
| HM |
D012174 D017240 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
18 |
| MMR |
20150818 |
| notation |
C537396 |
| prefLabel |
Neuropathy ataxia and retinitis pigmentosa |
| SC |
3 |
| Scope Statement |
A mitochondrial myopathy characterized by sensory neuropathy (pain, numbness, or tingling) in the arms and legs beginning in childhood or early adulthood, MUSCLE WEAKNESS, ATAXIA, and vision loss due to retinitis pigmentosa. Affected children may also present with LEARNING DISABILITIES and older adults may experience DEMENTIA. Mutations in the MTATP6 gene have been identified. OMIM: 551500 |
| TERMUI |
T000884704 T742458 T842138 T742457 T000884699 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |