From HPO
Focal segmental glomerulosclerosis- MedGen UID:
- 4904
- •Concept ID:
- C0017668
- •
- Disease or Syndrome
Segmental accumulation of scar tissue in individual (but not all) glomeruli.
Nephrotic syndrome- MedGen UID:
- 10308
- •Concept ID:
- C0027726
- •
- Disease or Syndrome
Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.
Proteinuria- MedGen UID:
- 10976
- •Concept ID:
- C0033687
- •
- Finding
Increased levels of protein in the urine.
Bilateral cryptorchidism- MedGen UID:
- 96568
- •Concept ID:
- C0431663
- •
- Congenital Abnormality
Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
Renal insufficiency- MedGen UID:
- 332529
- •Concept ID:
- C1565489
- •
- Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Stage 5 chronic kidney disease- MedGen UID:
- 384526
- •Concept ID:
- C2316810
- •
- Disease or Syndrome
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
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).
Shallow acetabular fossae- MedGen UID:
- 344384
- •Concept ID:
- C1854910
- •
- Finding
Lateral displacement of the femoral head- MedGen UID:
- 340954
- •Concept ID:
- C1855758
- •
- Finding
A developmental anomaly with lateral displacement of the femoral head.
Arteriosclerosis disorder- MedGen UID:
- 2076
- •Concept ID:
- C0003850
- •
- Disease or Syndrome
Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity.
Transient ischemic attack- MedGen UID:
- 853
- •Concept ID:
- C0007787
- •
- Disease or Syndrome
A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit.
Hypertensive disorder- MedGen UID:
- 6969
- •Concept ID:
- C0020538
- •
- Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Stroke disorder- MedGen UID:
- 52522
- •Concept ID:
- C0038454
- •
- Disease or Syndrome
Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.
Cerebral ischemia- MedGen UID:
- 182975
- •Concept ID:
- C0917798
- •
- Pathologic Function
Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue.
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.
Fetal growth restriction- MedGen UID:
- 4693
- •Concept ID:
- C0015934
- •
- Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Small for gestational age- MedGen UID:
- 65920
- •Concept ID:
- C0235991
- •
- Finding
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
Growth delay- MedGen UID:
- 99124
- •Concept ID:
- C0456070
- •
- Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Protuberant abdomen- MedGen UID:
- 340750
- •Concept ID:
- C1854928
- •
- Finding
A thrusting or bulging out of the abdomen.
Migraine- MedGen UID:
- 57451
- •Concept ID:
- C0149931
- •
- Disease or Syndrome
Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.
Waddling gait- MedGen UID:
- 66667
- •Concept ID:
- C0231712
- •
- Finding
Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.
Abnormally high-pitched voice- MedGen UID:
- 66836
- •Concept ID:
- C0241703
- •
- Finding
A persistent (minutes to hours) abnormal increase in the pitch (frequency) of the voice for the context or social situation or significantly different from baseline of the individual.
Global developmental delay- MedGen UID:
- 107838
- •Concept ID:
- C0557874
- •
- Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Motor delay- MedGen UID:
- 381392
- •Concept ID:
- C1854301
- •
- Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Anemia- MedGen UID:
- 1526
- •Concept ID:
- C0002871
- •
- Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Pancytopenia- MedGen UID:
- 18281
- •Concept ID:
- C0030312
- •
- Disease or Syndrome
An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
Thrombocytopenia- MedGen UID:
- 52737
- •Concept ID:
- C0040034
- •
- Disease or Syndrome
A reduction in the number of circulating thrombocytes.
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.
Spondyloepiphyseal dysplasia- MedGen UID:
- 20916
- •Concept ID:
- C0038015
- •
- Finding
A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).
Thoracic kyphosis- MedGen UID:
- 263148
- •Concept ID:
- C1184919
- •
- Finding
Over curvature of the thoracic region, leading to a round back or if sever to a hump.
Lumbar hyperlordosis- MedGen UID:
- 263149
- •Concept ID:
- C1184923
- •
- Finding
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Hypoplasia of the capital femoral epiphysis- MedGen UID:
- 374176
- •Concept ID:
- C1839254
- •
- Finding
Underdevelopment of the proximal epiphysis of the femur.
Platyspondyly- MedGen UID:
- 335010
- •Concept ID:
- C1844704
- •
- Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Disproportionate short-trunk short stature- MedGen UID:
- 337580
- •Concept ID:
- C1846435
- •
- Finding
A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.
Ovoid vertebral bodies- MedGen UID:
- 344549
- •Concept ID:
- C1855665
- •
- Finding
When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval.
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.
Lymphopenia- MedGen UID:
- 7418
- •Concept ID:
- C0024312
- •
- Disease or Syndrome
A reduced number of lymphocytes in the blood.
Recurrent infections- MedGen UID:
- 65998
- •Concept ID:
- C0239998
- •
- Finding
Increased susceptibility to infections.
Neutropenia- MedGen UID:
- 163121
- •Concept ID:
- C0853697
- •
- Finding
An abnormally low number of neutrophils in the peripheral blood.
Abnormal T cell morphology- MedGen UID:
- 343416
- •Concept ID:
- C1855752
- •
- Finding
An abnormality of T cells.
Abnormal circulating immunoglobulin concentration- MedGen UID:
- 340953
- •Concept ID:
- C1855755
- •
- Finding
An abnormal deviation from normal levels of immunoglobulins in blood.
Decreased circulating antibody concentration- MedGen UID:
- 892481
- •Concept ID:
- C4048270
- •
- Finding
An abnormally decreased level of immunoglobulin in blood.
Fever- MedGen UID:
- 5169
- •Concept ID:
- C0015967
- •
- Sign or Symptom
Body temperature elevated above the normal range.
Microdontia- MedGen UID:
- 66008
- •Concept ID:
- C0240340
- •
- Congenital Abnormality
Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.
Bulbous nose- MedGen UID:
- 66013
- •Concept ID:
- C0240543
- •
- Finding
Increased volume and globular shape of the anteroinferior aspect of the nose.
Short neck- MedGen UID:
- 99267
- •Concept ID:
- C0521525
- •
- Finding
Diminished length of the neck.
Triangular face- MedGen UID:
- 324383
- •Concept ID:
- C1835884
- •
- Finding
Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.
Depressed nasal bridge- MedGen UID:
- 373112
- •Concept ID:
- C1836542
- •
- Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Wide nasal bridge- MedGen UID:
- 341441
- •Concept ID:
- C1849367
- •
- Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Coarse hair- MedGen UID:
- 124454
- •Concept ID:
- C0277959
- •
- Finding
Hair shafts are rough in texture.
Macule- MedGen UID:
- 451035
- •Concept ID:
- C0332573
- •
- Sign or Symptom
A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin.
Fine hair- MedGen UID:
- 98401
- •Concept ID:
- C0423867
- •
- Finding
Hair that is fine or thin to the touch.
Hypermelanotic macule- MedGen UID:
- 375013
- •Concept ID:
- C1842774
- •
- Finding
A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.
Elevated circulating thyroid-stimulating hormone concentration- MedGen UID:
- 108325
- •Concept ID:
- C0586553
- •
- Finding
Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation.
Astigmatism- MedGen UID:
- 2473
- •Concept ID:
- C0004106
- •
- Disease or Syndrome
Astigmatism (from the Greek 'a' meaning absence and 'stigma' meaning point) is a condition in which the parallel rays of light entering the eye through the refractive media are not focused on a single point. Both corneal and noncorneal factors contribute to refractive astigmatism. Corneal astigmatism is mainly the result of an aspheric anterior surface of the cornea, which can be measured readily by means of a keratometer; in a small fraction of cases (approximately 1 in 10) the effect is neutralized by the back surface. The curvature of the back surface of the cornea is not considered in most studies, because it is more difficult to measure; moreover, in the case of severe corneal astigmatism, there is evidence that both surfaces have the same configuration. Noncorneal factors are errors in the curvature of the 2 surfaces of the crystalline lens, irregularity in the refractive index of the lens, and an eccentric lens position. Since the cornea is the dominant component of the eye's refracting system, a highly astigmatic cornea is likely to result in a similarly astigmatic ocular refraction (summary by Clementi et al., 1998).
Myopia- MedGen UID:
- 44558
- •Concept ID:
- C0027092
- •
- Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.
Opacification of the corneal stroma- MedGen UID:
- 602191
- •Concept ID:
- C0423250
- •
- Finding
Reduced transparency of the stroma of cornea.
- Abnormality of blood and blood-forming tissues
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the endocrine 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 nervous system
- Abnormality of the respiratory system
- Growth abnormality