From HPO
Neoplasm- MedGen UID:
- 10294
- •Concept ID:
- C0027651
- •
- Neoplastic Process
An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).
Thymoma- MedGen UID:
- 52743
- •Concept ID:
- C0040100
- •
- Neoplastic Process
A tumor originating from the epithelial cells of the thymus.
Fatigable weakness- MedGen UID:
- 451076
- •Concept ID:
- C0947912
- •
- Disease or Syndrome
A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.
Proximal amyotrophy- MedGen UID:
- 342591
- •Concept ID:
- C1850794
- •
- Disease or Syndrome
Amyotrophy (muscular atrophy) affecting the proximal musculature.
Type 2 muscle fiber atrophy- MedGen UID:
- 355249
- •Concept ID:
- C1864580
- •
- Pathologic Function
Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy.
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation- MedGen UID:
- 892749
- •Concept ID:
- C4021728
- •
- Finding
A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation.
Systemic lupus erythematosus- MedGen UID:
- 6146
- •Concept ID:
- C0024141
- •
- Disease or Syndrome
Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008).
Genetic Heterogeneity of Systemic Lupus Erythematosus
An autosomal recessive form of systemic lupus erythematosus (SLEB16; 614420) is caused by mutation in the DNASE1L3 gene (602244) on chromosome 3p14.3. An X-linked dominant form of SLE (SLEB17; 301080) is caused by heterozygous mutation in the TLR7 gene (300365) on chromosome Xp22.
See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.
Hashimoto thyroiditis- MedGen UID:
- 151769
- •Concept ID:
- C0677607
- •
- Disease or Syndrome
Hashimoto thyroiditis (HT) is a chronic autoimmune thyroiditis characterized by diffuse lymphocytic infiltration, thyroid follicles of reduced size containing sparse colloid, and fibrosis replacing the thyroid parenchyma (summary by Klintschar et al., 2001).
Mildly elevated creatine kinase- MedGen UID:
- 342469
- •Concept ID:
- C1850309
- •
- Finding
Ptosis- MedGen UID:
- 2287
- •Concept ID:
- C0005745
- •
- Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Ophthalmoparesis- MedGen UID:
- 155551
- •Concept ID:
- C0751401
- •
- Sign or Symptom
Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.
- Abnormality of metabolism/homeostasis
- Abnormality of the eye
- Abnormality of the immune system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Neoplasm