From HPO
Ovarian cyst- MedGen UID:
- 14540
- •Concept ID:
- C0029927
- •
- Disease or Syndrome
The presence of one or more cysts of the ovary.
Clitoral hypertrophy- MedGen UID:
- 57848
- •Concept ID:
- C0156394
- •
- Finding
Hypertrophy of the clitoris.
Long penis- MedGen UID:
- 82837
- •Concept ID:
- C0269011
- •
- Finding
Penile length more than 2 SD above the mean for age.
Large hands- MedGen UID:
- 98097
- •Concept ID:
- C0426870
- •
- Finding
Long foot- MedGen UID:
- 154365
- •Concept ID:
- C0576225
- •
- Finding
Increased back to front length of the foot.
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.
Severe failure to thrive- MedGen UID:
- 343373
- •Concept ID:
- C1855514
- •
- Finding
Postnatal growth retardation- MedGen UID:
- 395343
- •Concept ID:
- C1859778
- •
- Finding
Slow or limited growth after birth.
Abdominal distention- MedGen UID:
- 34
- •Concept ID:
- C0000731
- •
- Finding
Distention of the abdomen.
Cholestasis- MedGen UID:
- 925
- •Concept ID:
- C0008370
- •
- Disease or Syndrome
Impairment of bile flow due to obstruction in bile ducts.
Hepatic fibrosis- MedGen UID:
- 116093
- •Concept ID:
- C0239946
- •
- Disease or Syndrome
The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.
Pancreatic islet-cell hyperplasia- MedGen UID:
- 108598
- •Concept ID:
- C0597167
- •
- Finding
Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells.
Abnormality of the abdominal wall- MedGen UID:
- 867301
- •Concept ID:
- C4021664
- •
- Anatomical Abnormality
The presence of any abnormality affecting the abdominal wall.
Macrotia- MedGen UID:
- 488785
- •Concept ID:
- C0152421
- •
- Congenital Abnormality
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Low-set ears- MedGen UID:
- 65980
- •Concept ID:
- C0239234
- •
- Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Delayed skeletal maturation- MedGen UID:
- 108148
- •Concept ID:
- C0541764
- •
- Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Skeletal muscle atrophy- MedGen UID:
- 892680
- •Concept ID:
- C0541794
- •
- Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Adipose tissue loss- MedGen UID:
- 870181
- •Concept ID:
- C4024615
- •
- Finding
A loss of adipose tissue.
Recurrent infections- MedGen UID:
- 65998
- •Concept ID:
- C0239998
- •
- Finding
Increased susceptibility to infections.
Hyperglycemia- MedGen UID:
- 5689
- •Concept ID:
- C0020456
- •
- Disease or Syndrome
An increased concentration of glucose in the blood.
Fasting hypoglycemia- MedGen UID:
- 75765
- •Concept ID:
- C0271708
- •
- Disease or Syndrome
HYPOGLYCEMIA expressed in the postabsorptive state, after prolonged FASTING, or an overnight fast.
Postprandial hyperglycemia- MedGen UID:
- 383702
- •Concept ID:
- C1855520
- •
- Finding
An increased concentration of glucose in the blood following a meal.
Wide mouth- MedGen UID:
- 44238
- •Concept ID:
- C0024433
- •
- Congenital Abnormality
Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
Elfin facies- MedGen UID:
- 87157
- •Concept ID:
- C0332606
- •
- Sign or Symptom
This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations.
Gingival overgrowth- MedGen UID:
- 87712
- •Concept ID:
- C0376480
- •
- Finding
Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.
Thick lower lip vermilion- MedGen UID:
- 326567
- •Concept ID:
- C1839739
- •
- Finding
Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).
Small face- MedGen UID:
- 343376
- •Concept ID:
- C1855538
- •
- Finding
A face that is short and narrow.
Acanthosis nigricans- MedGen UID:
- 54
- •Concept ID:
- C0000889
- •
- Disease or Syndrome
A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.
Hypertrichosis- MedGen UID:
- 43787
- •Concept ID:
- C0020555
- •
- Disease or Syndrome
Hypertrichosis is increased hair growth that is abnormal in quantity or location.
Hyperkeratosis- MedGen UID:
- 209030
- •Concept ID:
- C0870082
- •
- Disease or Syndrome
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
Nail dysplasia- MedGen UID:
- 331737
- •Concept ID:
- C1834405
- •
- Congenital Abnormality
The presence of developmental dysplasia of the nail.
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.
Hyperinsulinemia- MedGen UID:
- 43779
- •Concept ID:
- C0020459
- •
- Disease or Syndrome
An increased concentration of insulin in the blood.
Precocious puberty- MedGen UID:
- 18752
- •Concept ID:
- C0034013
- •
- Disease or Syndrome
The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.
Prominent nipples- MedGen UID:
- 343372
- •Concept ID:
- C1855513
- •
- Finding
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 metabolism/homeostasis
- Abnormality of the breast
- Abnormality of the digestive system
- Abnormality of the ear
- 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
- Growth abnormality