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.
Chest pain- MedGen UID:
- 2992
- •Concept ID:
- C0008031
- •
- Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.
Constipation- MedGen UID:
- 1101
- •Concept ID:
- C0009806
- •
- Sign or Symptom
Infrequent or difficult evacuation of feces.
Dysphagia- MedGen UID:
- 41440
- •Concept ID:
- C0011168
- •
- Disease or Syndrome
Difficulty in swallowing.
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.
Colonic diverticula- MedGen UID:
- 3878
- •Concept ID:
- C0012819
- •
- Disease or Syndrome
The presence of multiple diverticula of the colon.
Duodenal ulcer- MedGen UID:
- 41670
- •Concept ID:
- C0013295
- •
- Disease or Syndrome
An erosion of the mucous membrane in a portion of the duodenum.
Esophageal diverticulum- MedGen UID:
- 5025
- •Concept ID:
- C0014854
- •
- Anatomical Abnormality
The presence of a diverticulum of the esophagus.
Intestinal perforation- MedGen UID:
- 9525
- •Concept ID:
- C0021845
- •
- Disease or Syndrome
A hole (perforation) in the wall of the intestine.
Nausea- MedGen UID:
- 10196
- •Concept ID:
- C0027497
- •
- Sign or Symptom
A sensation of unease in the stomach together with an urge to vomit.
Rectal prolapse- MedGen UID:
- 11151
- •Concept ID:
- C0034888
- •
- Disease or Syndrome
Protrusion of the rectal mucous membrane through the anus.
Gastric ulcer- MedGen UID:
- 21330
- •Concept ID:
- C0038358
- •
- Disease or Syndrome
An ulcer, that is, an erosion of an area of the gastric mucous membrane.
Esophageal ulceration- MedGen UID:
- 56254
- •Concept ID:
- C0151970
- •
- Disease or Syndrome
Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus.
Odynophagia- MedGen UID:
- 526172
- •Concept ID:
- C0221150
- •
- Sign or Symptom
Pain experienced with swallowing.
Early satiety- MedGen UID:
- 536892
- •Concept ID:
- C0239233
- •
- Sign or Symptom
The condition of being unable to eat a full meal because of a feeling of fullness (satiety), or or feeling very full after eating only a small amount of food.
Eosinophilic gastritis- MedGen UID:
- 120598
- •Concept ID:
- C0267154
- •
- Disease or Syndrome
Infiltration of eosinophils in the stomach mucosa, that is diagnosed by an upper endoscopy and microscopy that shows more than 20 eosinophils per high-power field in association with peripheral eosinophilia and the absence of secondary cause of eosinophilia.
Esophageal food impaction- MedGen UID:
- 1651762
- •Concept ID:
- C1695984
- •
- Finding
A piece of food that has gotten stuck in the esophagus and prevents further swallowing.
Gastroesophageal reflux- MedGen UID:
- 1368658
- •Concept ID:
- C4317146
- •
- Finding
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
Increased hepatic echogenicity- MedGen UID:
- 1382460
- •Concept ID:
- C4477000
- •
- Finding
Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device.
Esophageal stricture- MedGen UID:
- 1637009
- •Concept ID:
- C4551650
- •
- Disease or Syndrome
A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen.
Esophageal furrows- MedGen UID:
- 1647993
- •Concept ID:
- C4703578
- •
- Finding
Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus).
Eosinophilic infiltration of the esophagus- MedGen UID:
- 1637185
- •Concept ID:
- C4703646
- •
- Finding
Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus.
Craniosynostosis syndrome- MedGen UID:
- 1163
- •Concept ID:
- C0010278
- •
- Disease or Syndrome
Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.
Recurrent fractures- MedGen UID:
- 42094
- •Concept ID:
- C0016655
- •
- Injury or Poisoning
The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).
Osteopenia- MedGen UID:
- 18222
- •Concept ID:
- C0029453
- •
- Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Frontal bossing- MedGen UID:
- 67453
- •Concept ID:
- C0221354
- •
- Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Joint hypermobility- MedGen UID:
- 336793
- •Concept ID:
- C1844820
- •
- Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Pleural empyema- MedGen UID:
- 4928
- •Concept ID:
- C0014013
- •
- Disease or Syndrome
Accumulation of pus in the pleural cavity.
Pulmonary cyst- MedGen UID:
- 107790
- •Concept ID:
- C0546483
- •
- Anatomical Abnormality
A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid.
Recurrent upper respiratory tract infections- MedGen UID:
- 154380
- •Concept ID:
- C0581381
- •
- Disease or Syndrome
An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
Recurrent pneumonia- MedGen UID:
- 195802
- •Concept ID:
- C0694550
- •
- Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Recurrent sinopulmonary infections- MedGen UID:
- 339549
- •Concept ID:
- C1846546
- •
- Finding
An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.
Chronic mucocutaneous candidiasis- MedGen UID:
- 2426
- •Concept ID:
- C0006845
- •
- Disease or Syndrome
Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails.
Eczematoid dermatitis- MedGen UID:
- 3968
- •Concept ID:
- C0013595
- •
- Disease or Syndrome
Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.
Eosinophilia- MedGen UID:
- 41824
- •Concept ID:
- C0014457
- •
- Disease or Syndrome
Increased count of eosinophils in the blood.
Cutaneous abscess- MedGen UID:
- 450991
- •Concept ID:
- C0149777
- •
- Pathologic Function
A circumscribed area of pus or necrotic debris in the skin.
Increased circulating IgE concentration- MedGen UID:
- 116018
- •Concept ID:
- C0236175
- •
- Finding
An abnormally increased overall level of immunoglobulin E in blood.
Esophageal candidiasis- MedGen UID:
- 66784
- •Concept ID:
- C0239295
- •
- Disease or Syndrome
Candida infections of the esophagus are considered opportunistic infections and are seen most commonly in immunosuppressed patients, the most common symptoms being dysphagia, odynophagia, and retrosternal pain.
Recurrent fungal infections- MedGen UID:
- 336166
- •Concept ID:
- C1844384
- •
- Disease or Syndrome
Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.
Recurrent Staphylococcus aureus infections- MedGen UID:
- 392925
- •Concept ID:
- C2673462
- •
- Finding
Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection.
Recurrent cutaneous abscess formation- MedGen UID:
- 867572
- •Concept ID:
- C4021957
- •
- Finding
An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses.
Chronic oral candidiasis- MedGen UID:
- 870166
- •Concept ID:
- C4024599
- •
- Disease or Syndrome
Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx.
Skin rash- MedGen UID:
- 1830322
- •Concept ID:
- C5779628
- •
- Sign or Symptom
A red eruption of the skin.
High palate- MedGen UID:
- 66814
- •Concept ID:
- C0240635
- •
- Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Persistence of primary teeth- MedGen UID:
- 75597
- •Concept ID:
- C0266050
- •
- Disease or Syndrome
Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth.
Wide nose- MedGen UID:
- 140869
- •Concept ID:
- C0426421
- •
- Finding
Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.
Prominent forehead- MedGen UID:
- 373291
- •Concept ID:
- C1837260
- •
- Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Coarse facial features- MedGen UID:
- 335284
- •Concept ID:
- C1845847
- •
- Finding
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Erythema- MedGen UID:
- 11999
- •Concept ID:
- C0041834
- •
- Disease or Syndrome
Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.
Hypertelorism- MedGen UID:
- 9373
- •Concept ID:
- C0020534
- •
- Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
- Abnormality of head or neck
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the respiratory system
- Constitutional symptom