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Items: 6

1.

Fatigue

A subjective feeling of tiredness characterized by a lack of energy and motivation. [from HPO]

MedGen UID:
41971
Concept ID:
C0015672
Sign or Symptom
2.

Syndromic disease

A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
3.

Heart and brain malformation syndrome

Heart and brain malformation syndrome (HBMS) is a severe autosomal recessive multiple congenital anomaly syndrome characterized by profoundly delayed psychomotor development, dysmorphic facial features, microphthalmia, cardiac malformations, mainly septal defects, and brain malformations, including Dandy-Walker malformation (summary by Shaheen et al., 2016). Homozygous mutation in the SMG9 gene can also cause neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies (NEDITPDO; 619995), a less severe neurodevelopmental disorder. [from OMIM]

MedGen UID:
934760
Concept ID:
C4310793
Disease or Syndrome
4.

Chronic fatigue

Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer. [from HPO]

MedGen UID:
760077
Concept ID:
C0518656
Finding
5.

Myalgic encephalomeyelitis/chronic fatigue syndrome

A syndrome of unknown etiology. Chronic fatigue syndrome (CFS) is a clinical diagnosis characterized by an unexplained persistent or relapsing chronic fatigue that is of at least six months'' duration, is not the result of ongoing exertion, is not substantially alleviated by rest, and results in substantial reduction of previous levels of occupational, educational, social, or personal activities. Common concurrent symptoms of at least six months duration include impairment of memory or concentration, diffuse pain, sore throat, tender lymph nodes, headaches of a new type, pattern, or severity, and nonrestorative sleep. The etiology of CFS may be viral or immunologic. Neurasthenia and fibromyalgia may represent related disorders. Also known as myalgic encephalomyelitis. [from NCI]

MedGen UID:
5130
Concept ID:
C0015674
Disease or Syndrome
6.

Infectious disease

A disorder resulting from the presence and activity of a microbial, viral, fungal, or parasitic agent. It can be transmitted by direct or indirect contact. [from NCI]

MedGen UID:
1057
Concept ID:
C0009450
Disease or Syndrome
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