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Items: 7

1.

Aging

Progressive damage to mitochondrial DNA (mtDNA) during life is thought to contribute to aging processes. This notion is supported by the observation of an aging-related accumulation in human mtDNA of oxidative and alkylation derivatives of nucleotides, of small deletions and insertions, and of large deletions, although their low frequency raises questions about their functional significance (Michikawa et al., 1999). [from OMIM]

MedGen UID:
1376
Concept ID:
C0001811
Organism Function
2.

Posterior cortical atrophy

Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities. [from ORDO]

MedGen UID:
799015
Concept ID:
CN205270
Disease or Syndrome
3.

Primary localized cutaneous amyloidosis 1

Primary localized cutaneous amyloidosis is characterized clinically by pruritus and skin scratching and histologically by the finding of deposits of amyloid staining on keratinous debris in the papillary dermis (summary by Tanaka et al., 2009). Genetic Heterogeneity of Primary Localized Cutaneous Amyloidosis Primary localized cutaneous amyloidosis-2 (613955) is caused by heterozygous mutation in the IL31RA gene (609510) on chromosome 5q11.2. [from OMIM]

MedGen UID:
75675
Concept ID:
C0268398
Congenital Abnormality; Disease or Syndrome
4.

Choanal atresia, posterior

Absence or abnormal closure of the posterior portion of the choana (the posterior nasal aperture). [from HPO]

MedGen UID:
66321
Concept ID:
C0220723
Finding; Finding
5.

Muscle weakness

Reduced strength of muscles. [from HPO]

MedGen UID:
57735
Concept ID:
C0151786
Finding; Sign or Symptom
6.

Myopathy

Your muscles help you move and help your body work. Different types of muscles have different jobs. There are many problems that can affect muscles. Muscle disorders can cause weakness, pain or even paralysis. . Causes of muscle disorders include. -Injury or overuse, such as sprains or strains, cramps or tendinitis . -A genetic disorder, such as muscular dystrophy. -Some cancers. -Inflammation, such as myositis. -Diseases of nerves that affect muscles. -Infections. -Certain medicines. Sometimes the cause is not known.  [from MedlinePlus]

MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
7.

Decreased size of nerve terminals

A reduction in the size of nerve terminals. [from HPO]

MedGen UID:
505539
Concept ID:
CN003103
Finding
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