From HPO
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.
Cervical insufficiency- MedGen UID:
- 2972
- •Concept ID:
- C0007871
- •
- Pathologic Function
A cervix that shows a painless dilation and shortening during the second trimester of pregnancy with resultant recurrent pregnancy loss or delivery is considered incompetent
Cryptorchidism- MedGen UID:
- 8192
- •Concept ID:
- C0010417
- •
- Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Uterine rupture- MedGen UID:
- 22592
- •Concept ID:
- C0042143
- •
- Finding
The complete, nonsurgical disruption of all layers of the uterus.
Clubfoot- MedGen UID:
- 3130
- •Concept ID:
- C0009081
- •
- Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Acroosteolysis- MedGen UID:
- 183017
- •Concept ID:
- C0917990
- •
- Disease or Syndrome
Dissolution or degeneration of bone tissue of the phalanges of the hand.
Metacarpophalangeal joint hyperextensibility- MedGen UID:
- 870640
- •Concept ID:
- C4025092
- •
- Anatomical Abnormality
Increased mobility of one ore more metacarpophalangeal joint.
Foot acroosteolysis- MedGen UID:
- 871259
- •Concept ID:
- C4025744
- •
- Pathologic Function
Mitral valve prolapse- MedGen UID:
- 7671
- •Concept ID:
- C0026267
- •
- Disease or Syndrome
One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.
Varicose disease- MedGen UID:
- 21827
- •Concept ID:
- C0042345
- •
- Disease or Syndrome
Enlarged and tortuous veins.
Arterial rupture- MedGen UID:
- 102341
- •Concept ID:
- C0155760
- •
- Disease or Syndrome
Sudden breakage of an artery leading to leakage of blood from the circulation.
Carotid cavernous fistula- MedGen UID:
- 116040
- •Concept ID:
- C0238045
- •
- Anatomical Abnormality
An abnormal connection between a carotid artery and the cavernous sinus.
Ascending aortic dissection- MedGen UID:
- 322966
- •Concept ID:
- C1836653
- •
- Disease or Syndrome
A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.
Recurrent intrapulmonary hemorrhage- MedGen UID:
- 812249
- •Concept ID:
- C3805919
- •
- Finding
A recurrent hemorrhage occurring within the lung.
Descending aortic dissection- MedGen UID:
- 868484
- •Concept ID:
- C4022878
- •
- Disease or Syndrome
A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.
Dilatation of the cerebral artery- MedGen UID:
- 1386760
- •Concept ID:
- C4476540
- •
- Anatomical Abnormality
The presence of a localized dilatation or ballooning of a cerebral artery.
Diffuse alveolar hemorrhage- MedGen UID:
- 1381751
- •Concept ID:
- C4476767
- •
- Pathologic Function
A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen.
Short stature- MedGen UID:
- 87607
- •Concept ID:
- C0349588
- •
- Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Absent earlobe- MedGen UID:
- 341440
- •Concept ID:
- C1849364
- •
- Anatomical Abnormality
Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura.
Anemia- MedGen UID:
- 1526
- •Concept ID:
- C0002871
- •
- Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Inguinal hernia- MedGen UID:
- 6817
- •Concept ID:
- C0019294
- •
- Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Uterine prolapse- MedGen UID:
- 22591
- •Concept ID:
- C0042140
- •
- Finding
The presence of prolapse of the uterus.
Finger joint hypermobility- MedGen UID:
- 154359
- •Concept ID:
- C0574974
- •
- Finding
Cystocele- MedGen UID:
- 730551
- •Concept ID:
- C1394494
- •
- Disease or Syndrome
Anterior vaginal wall prolapse with bulging of the bladder into the vagina.
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.
Hypermobility of distal interphalangeal joints- MedGen UID:
- 338783
- •Concept ID:
- C1851811
- •
- Finding
Pectus excavatum- MedGen UID:
- 781174
- •Concept ID:
- C2051831
- •
- Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Hypermobility of interphalangeal joints- MedGen UID:
- 870718
- •Concept ID:
- C4025172
- •
- Anatomical Abnormality
The ability of the interphalangeal joints to move beyond their normal range of motion.
Hemoptysis- MedGen UID:
- 5502
- •Concept ID:
- C0019079
- •
- Sign or Symptom
Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.
Hemothorax- MedGen UID:
- 5510
- •Concept ID:
- C0019123
- •
- Pathologic Function
The presence of blood in the pleural space.
Pneumothorax- MedGen UID:
- 19365
- •Concept ID:
- C0032326
- •
- Disease or Syndrome
Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung.
Emphysema- MedGen UID:
- 18764
- •Concept ID:
- C0034067
- •
- Disease or Syndrome
A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing.
Spontaneous pneumothorax- MedGen UID:
- 57701
- •Concept ID:
- C0149781
- •
- Disease or Syndrome
Pneumothorax occurring without traumatic injury to the chest or lung.
Pulmonary bulla- MedGen UID:
- 537120
- •Concept ID:
- C0241982
- •
- Anatomical Abnormality
Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema.
Pulmonary bleb- MedGen UID:
- 341774
- •Concept ID:
- C1857434
- •
- Anatomical Abnormality
A bleb is a small gas-containing space within the visceral pleura or in the subpleural lung, not larger than 1 cm in diameter. CT findings show a bleb as a thin-walled cystic air space contiguous with the pleura.
Repeated pneumothoraces- MedGen UID:
- 870578
- •Concept ID:
- C4025027
- •
- Disease or Syndrome
Nodular pattern on pulmonary HRCT- MedGen UID:
- 1380219
- •Concept ID:
- C4476750
- •
- Finding
A nodular pattern is characterized on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter.
Combined cystic and ground-glass pattern on pulmonary HRCT- MedGen UID:
- 1380516
- •Concept ID:
- C4476753
- •
- Finding
Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography,
Periodontitis- MedGen UID:
- 45815
- •Concept ID:
- C0031099
- •
- Disease or Syndrome
Inflammation of the periodontium.
Premature loss of teeth- MedGen UID:
- 66678
- •Concept ID:
- C0232513
- •
- Finding
Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal.
Alopecia of scalp- MedGen UID:
- 658454
- •Concept ID:
- C0574769
- •
- Finding
Thin vermilion border- MedGen UID:
- 108294
- •Concept ID:
- C0578038
- •
- Finding
Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).
Narrow nasal ridge- MedGen UID:
- 373404
- •Concept ID:
- C1837761
- •
- Finding
Decreased width of the nasal ridge.
Ecchymosis- MedGen UID:
- 8524
- •Concept ID:
- C0013491
- •
- Finding
A purpuric lesion that is larger than 1 cm in diameter.
Hyperextensible skin- MedGen UID:
- 66023
- •Concept ID:
- C0241074
- •
- Finding
A condition in which the skin can be stretched beyond normal, and then returns to its initial position.
Fragile skin- MedGen UID:
- 66826
- •Concept ID:
- C0241181
- •
- Finding
Skin that splits easily with minimal injury.
Bruising susceptibility- MedGen UID:
- 140849
- •Concept ID:
- C0423798
- •
- Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Dermal translucency- MedGen UID:
- 373141
- •Concept ID:
- C1836646
- •
- Finding
An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility.
Molluscoid pseudotumors- MedGen UID:
- 375465
- •Concept ID:
- C1844597
- •
- Disease or Syndrome
Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees.
Cigarette-paper scars- MedGen UID:
- 342099
- •Concept ID:
- C1851828
- •
- Finding
Thin (atrophic) and wide scars.
Premature delivery because of cervical insufficiency or membrane fragility- MedGen UID:
- 377529
- •Concept ID:
- C1851808
- •
- Finding
Keratoconus- MedGen UID:
- 44015
- •Concept ID:
- C0022578
- •
- Disease or Syndrome
A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex.
- Abnormality of blood and blood-forming tissues
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of prenatal development or birth
- Abnormality of the cardiovascular system
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the respiratory system
- Constitutional symptom
- Ear malformation
- Growth abnormality