From HPO
Abdominal pain- MedGen UID:
- 7803
- •Concept ID:
- C0000737
- •
- Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Hamartomatous polyposis- MedGen UID:
- 474435
- •Concept ID:
- C3272802
- •
- Disease or Syndrome
Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture.
Clubbing of fingers- MedGen UID:
- 3129
- •Concept ID:
- C0009080
- •
- Finding
Terminal broadening of the fingers (distal phalanges of the fingers).
Clubbing- MedGen UID:
- 57692
- •Concept ID:
- C0149651
- •
- Anatomical Abnormality
Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.
Cachexia- MedGen UID:
- 2773
- •Concept ID:
- C0006625
- •
- Sign or Symptom
Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.
Diarrhea- MedGen UID:
- 8360
- •Concept ID:
- C0011991
- •
- Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Hematochezia- MedGen UID:
- 5481
- •Concept ID:
- C0018932
- •
- Disease or Syndrome
The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.
Protein-losing enteropathy- MedGen UID:
- 19522
- •Concept ID:
- C0033680
- •
- Disease or Syndrome
Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE) is characterized by abdominal pain and diarrhea, primary intestinal lymphangiectasia, hypoproteinemic edema, and malabsorption. Some patients also exhibit bowel inflammation, recurrent infections associated with hypogammaglobulinemia, and/or angiopathic thromboembolic disease. Patient T lymphocytes show increased complement activation, causing surface deposition of complement and generating soluble C5a (Ozen et al., 2017).
Vomiting- MedGen UID:
- 12124
- •Concept ID:
- C0042963
- •
- Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Gastrointestinal carcinoma- MedGen UID:
- 57467
- •Concept ID:
- C0151544
- •
- Neoplastic Process
A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma.
Malabsorption- MedGen UID:
- 811453
- •Concept ID:
- C3714745
- •
- Finding
Impaired ability to absorb one or more nutrients from the intestine.
Anorexia- MedGen UID:
- 315
- •Concept ID:
- C0003123
- •
- Disease or Syndrome
Anorexia, or the loss of appetite for food, is a medical condition.
Paresthesia- MedGen UID:
- 14619
- •Concept ID:
- C0030554
- •
- Disease or Syndrome
Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.
Anemia- MedGen UID:
- 1526
- •Concept ID:
- C0002871
- •
- Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Thromboembolism- MedGen UID:
- 21532
- •Concept ID:
- C0040038
- •
- Pathologic Function
The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.
Muscle weakness- MedGen UID:
- 57735
- •Concept ID:
- C0151786
- •
- Finding
Reduced strength of muscles.
Hypocalcemia- MedGen UID:
- 5705
- •Concept ID:
- C0020598
- •
- Disease or Syndrome
An abnormally decreased calcium concentration in the blood.
Hypokalemia- MedGen UID:
- 5712
- •Concept ID:
- C0020621
- •
- Finding
An abnormally decreased potassium concentration in the blood.
Hypomagnesemia- MedGen UID:
- 57481
- •Concept ID:
- C0151723
- •
- Disease or Syndrome
An abnormally decreased magnesium concentration in the blood.
Glossitis- MedGen UID:
- 6618
- •Concept ID:
- C0017675
- •
- Disease or Syndrome
Inflammation of the tongue.
Xerostomia- MedGen UID:
- 22735
- •Concept ID:
- C0043352
- •
- Disease or Syndrome
Dryness of the mouth due to salivary gland dysfunction.
Alopecia- MedGen UID:
- 7982
- •Concept ID:
- C0002170
- •
- Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Hyperpigmentation of the skin- MedGen UID:
- 57992
- •Concept ID:
- C0162834
- •
- Pathologic Function
A darkening of the skin related to an increase in melanin production and deposition.
Nail dystrophy- MedGen UID:
- 66368
- •Concept ID:
- C0221260
- •
- Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Nail dysplasia- MedGen UID:
- 331737
- •Concept ID:
- C1834405
- •
- Congenital Abnormality
The presence of developmental dysplasia of the nail.
Cataract- MedGen UID:
- 39462
- •Concept ID:
- C0086543
- •
- Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
- Abnormality of blood and blood-forming tissues
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Constitutional symptom
- Growth abnormality
- Neoplasm