From HPO
Thyroid adenoma- MedGen UID:
- 56228
- •Concept ID:
- C0151468
- •
- Neoplastic Process
The presence of a adenoma of the thyroid gland.
Transitional cell carcinoma of the bladder- MedGen UID:
- 76013
- •Concept ID:
- C0279680
- •
- Neoplastic Process
The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell.
Subcutaneous lipoma- MedGen UID:
- 234674
- •Concept ID:
- C1403035
- •
- Neoplastic Process
The presence of subcutaneous lipoma.
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.
Ovarian cyst- MedGen UID:
- 14540
- •Concept ID:
- C0029927
- •
- Disease or Syndrome
The presence of one or more cysts of the ovary.
Varicocele- MedGen UID:
- 22619
- •Concept ID:
- C0042341
- •
- Disease or Syndrome
A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum.
Hydrocele testis- MedGen UID:
- 318568
- •Concept ID:
- C1720771
- •
- Congenital Abnormality
Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.
Palmoplantar keratosis- MedGen UID:
- 44017
- •Concept ID:
- C0022596
- •
- Disease or Syndrome
Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.
Abnormality of the cardiovascular system- MedGen UID:
- 116727
- •Concept ID:
- C0243050
- •
- Congenital Abnormality
Any abnormality of the cardiovascular system.
Colonic diverticula- MedGen UID:
- 3878
- •Concept ID:
- C0012819
- •
- Disease or Syndrome
The presence of multiple diverticula of the colon.
Hearing impairment- MedGen UID:
- 235586
- •Concept ID:
- C1384666
- •
- Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Meningioma- MedGen UID:
- 7532
- •Concept ID:
- C0025286
- •
- Neoplastic Process
The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.
Intellectual disability, mild- MedGen UID:
- 10044
- •Concept ID:
- C0026106
- •
- Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
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.
Intention tremor- MedGen UID:
- 1642960
- •Concept ID:
- C4551520
- •
- Sign or Symptom
A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).
Kyphosis- MedGen UID:
- 44042
- •Concept ID:
- C0022821
- •
- Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
Micrognathia- MedGen UID:
- 44428
- •Concept ID:
- C0025990
- •
- Congenital Abnormality
Developmental hypoplasia of the mandible.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Hypoplasia of the maxilla- MedGen UID:
- 66804
- •Concept ID:
- C0240310
- •
- Congenital Abnormality
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
Progressive macrocephaly- MedGen UID:
- 395368
- •Concept ID:
- C1859896
- •
- Finding
The progressive development of an abnormally large skull.
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.
Thyroiditis- MedGen UID:
- 21548
- •Concept ID:
- C0040147
- •
- Disease or Syndrome
Inflammation of the thyroid gland.
Narrow mouth- MedGen UID:
- 44435
- •Concept ID:
- C0026034
- •
- Congenital Abnormality
Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
Furrowed tongue- MedGen UID:
- 21583
- •Concept ID:
- C0040412
- •
- Anatomical Abnormality
Accentuation of the grooves on the dorsal surface of the tongue.
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).
Skin tags- MedGen UID:
- 11452
- •Concept ID:
- C0037293
- •
- Neoplastic Process
Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region.
Goiter- MedGen UID:
- 42270
- •Concept ID:
- C0018021
- •
- Disease or Syndrome
An enlargement of the thyroid gland.
Hyperthyroidism- MedGen UID:
- 6972
- •Concept ID:
- C0020550
- •
- Disease or Syndrome
An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).
Hypothyroidism- MedGen UID:
- 6991
- •Concept ID:
- C0020676
- •
- Disease or Syndrome
Deficiency of thyroid hormone.
Gynecomastia- MedGen UID:
- 6694
- •Concept ID:
- C0018418
- •
- Disease or Syndrome
Abnormal development of large mammary glands in males resulting in breast enlargement.
Fibroadenoma of the breast- MedGen UID:
- 64231
- •Concept ID:
- C0178421
- •
- Neoplastic Process
A benign biphasic tumor of the breast with epithelial and stromal components.
Breast carcinoma- MedGen UID:
- 146260
- •Concept ID:
- C0678222
- •
- Neoplastic Process
The presence of a carcinoma of the breast.
Angioid streaks- MedGen UID:
- 1541
- •Concept ID:
- C0002982
- •
- Disease or Syndrome
Angioid streaks are irregular tapering linear breaks in the Bruch membrane that typically emanate from the optic disk (summary by Karacorlu et al., 2002).
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.
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 head or neck
- Abnormality of limbs
- Abnormality of the breast
- 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
- Ear malformation
- Neoplasm