From HPO
Osteolytic defects of the distal phalanges of the hand- MedGen UID:
- 341480
- •Concept ID:
- C1849547
- •
- Finding
Limited elbow movement- MedGen UID:
- 337930
- •Concept ID:
- C1849955
- •
- Finding
Atherosclerosis- MedGen UID:
- 13948
- •Concept ID:
- C0004153
- •
- Disease or Syndrome
A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow.
Hypertensive disorder- MedGen UID:
- 6969
- •Concept ID:
- C0020538
- •
- Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Mitral regurgitation- MedGen UID:
- 7670
- •Concept ID:
- C0026266
- •
- Disease or Syndrome
An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.
Sinus tachycardia- MedGen UID:
- 11700
- •Concept ID:
- C0039239
- •
- Disease or Syndrome
Heart rate of greater than 100 beats per minute.
Right bundle branch block- MedGen UID:
- 88445
- •Concept ID:
- C0085615
- •
- Disease or Syndrome
A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.
Left atrial enlargement- MedGen UID:
- 536845
- •Concept ID:
- C0238705
- •
- Finding
Increase in size of the left atrium.
Right atrial enlargement- MedGen UID:
- 677114
- •Concept ID:
- C0748427
- •
- Disease or Syndrome
Increase in size of the right atrium.
Pulmonary arterial hypertension- MedGen UID:
- 425404
- •Concept ID:
- C2973725
- •
- Disease or Syndrome
Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
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).
Growth delay- MedGen UID:
- 99124
- •Concept ID:
- C0456070
- •
- Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Failure to thrive- MedGen UID:
- 746019
- •Concept ID:
- C2315100
- •
- Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Cavum septum pellucidum- MedGen UID:
- 327087
- •Concept ID:
- C1840380
- •
- Finding
If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space.
Pathologic fracture- MedGen UID:
- 42095
- •Concept ID:
- C0016663
- •
- Pathologic Function
A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.
Micrognathia- MedGen UID:
- 44428
- •Concept ID:
- C0025990
- •
- Congenital Abnormality
Developmental hypoplasia of the mandible.
Osteoporosis- MedGen UID:
- 14535
- •Concept ID:
- C0029456
- •
- Disease or Syndrome
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Joint stiffness- MedGen UID:
- 56403
- •Concept ID:
- C0162298
- •
- Sign or Symptom
Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.
Flexion contracture- MedGen UID:
- 83069
- •Concept ID:
- C0333068
- •
- Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Wide cranial sutures- MedGen UID:
- 140825
- •Concept ID:
- C0410935
- •
- Finding
An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure).
Thin ribs- MedGen UID:
- 98095
- •Concept ID:
- C0426818
- •
- Finding
Ribs with a reduced diameter.
Lipoatrophy- MedGen UID:
- 488959
- •Concept ID:
- C1280433
- •
- Disease or Syndrome
Localized loss of fat tissue.
Progressive clavicular acroosteolysis- MedGen UID:
- 324869
- •Concept ID:
- C1837757
- •
- Finding
Progressive bone resorption in the distal part of the clavicle.
Microretrognathia- MedGen UID:
- 326907
- •Concept ID:
- C1839546
- •
- Finding
A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.
Enlarged cisterna magna- MedGen UID:
- 344031
- •Concept ID:
- C1853377
- •
- Finding
Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata.
Rib osteolysis- MedGen UID:
- 462799
- •Concept ID:
- C3151449
- •
- Finding
Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to a rib.
Mandibular osteolysis- MedGen UID:
- 462800
- •Concept ID:
- C3151450
- •
- Finding
Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to the mandible.
Delayed closure of the anterior fontanelle- MedGen UID:
- 825928
- •Concept ID:
- C3840083
- •
- Finding
A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.
Osteolysis- MedGen UID:
- 1648424
- •Concept ID:
- C4721411
- •
- Pathologic Function
Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.
Dyspnea- MedGen UID:
- 3938
- •Concept ID:
- C0013404
- •
- Sign or Symptom
Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.
Dental malocclusion- MedGen UID:
- 9869
- •Concept ID:
- C0024636
- •
- Anatomical Abnormality
Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.
Dental crowding- MedGen UID:
- 11850
- •Concept ID:
- C0040433
- •
- Finding
Changes in alignment of teeth in the dental arch
Convex nasal ridge- MedGen UID:
- 66809
- •Concept ID:
- C0240538
- •
- Finding
Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.
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).
Sparse eyebrow- MedGen UID:
- 371332
- •Concept ID:
- C1832446
- •
- Finding
Decreased density/number of eyebrow hairs.
Midface retrusion- MedGen UID:
- 339938
- •Concept ID:
- C1853242
- •
- Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Sparse scalp hair- MedGen UID:
- 346499
- •Concept ID:
- C1857042
- •
- Finding
Decreased number of hairs per unit area of skin of the scalp.
Alopecia- MedGen UID:
- 7982
- •Concept ID:
- C0002170
- •
- Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Dry skin- MedGen UID:
- 56250
- •Concept ID:
- C0151908
- •
- Sign or Symptom
Skin characterized by the lack of natural or normal moisture.
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.
Prominent superficial veins- MedGen UID:
- 324870
- •Concept ID:
- C1837785
- •
- Finding
A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal.
Sparse eyelashes- MedGen UID:
- 375151
- •Concept ID:
- C1843300
- •
- Finding
Decreased density/number of eyelashes.
Progeroid facial appearance- MedGen UID:
- 341830
- •Concept ID:
- C1857710
- •
- Finding
A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance.
Spotty hyperpigmentation- MedGen UID:
- 812509
- •Concept ID:
- C3806179
- •
- Finding
Decreased serum leptin- MedGen UID:
- 373413
- •Concept ID:
- C1837802
- •
- Finding
A decreased concentration of leptin in the blood.
Proptosis- MedGen UID:
- 41917
- •Concept ID:
- C0015300
- •
- Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the cardiovascular system
- Abnormality of the endocrine system
- Abnormality of the eye
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Growth abnormality