From HPO
Glycosuria- MedGen UID:
- 42267
- •Concept ID:
- C0017979
- •
- Finding
An increased concentration of glucose in the urine.
Hematuria- MedGen UID:
- 5488
- •Concept ID:
- C0018965
- •
- Disease or Syndrome
The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
Male infertility- MedGen UID:
- 5796
- •Concept ID:
- C0021364
- •
- Disease or Syndrome
The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.
Polyuria- MedGen UID:
- 19404
- •Concept ID:
- C0032617
- •
- Sign or Symptom
An increased rate of urine production.
Proteinuria- MedGen UID:
- 10976
- •Concept ID:
- C0033687
- •
- Finding
Increased levels of protein in the urine.
Aminoaciduria- MedGen UID:
- 116067
- •Concept ID:
- C0238621
- •
- Disease or Syndrome
An increased concentration of an amino acid in the urine.
Microscopic hematuria- MedGen UID:
- 65997
- •Concept ID:
- C0239937
- •
- Finding
Microscopic hematuria detected by dipstick or microscopic examination of the urine.
Hyperphosphaturia- MedGen UID:
- 78638
- •Concept ID:
- C0268079
- •
- Disease or Syndrome
An increased excretion of phosphates in the urine.
Nephrolithiasis- MedGen UID:
- 98227
- •Concept ID:
- C0392525
- •
- Disease or Syndrome
The presence of calculi (stones) in the kidneys.
Medullary nephrocalcinosis- MedGen UID:
- 588418
- •Concept ID:
- C0403477
- •
- Disease or Syndrome
The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney).
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.
Low-molecular-weight proteinuria- MedGen UID:
- 333360
- •Concept ID:
- C1839606
- •
- Finding
Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD).
Generalized aminoaciduria- MedGen UID:
- 339863
- •Concept ID:
- C1847868
- •
- Finding
An increased concentration of all types of amino acid in the urine.
Primary Fanconi syndrome- MedGen UID:
- 341765
- •Concept ID:
- C1857395
- •
- Disease or Syndrome
An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.
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.
Cystine nephrolithiasis- MedGen UID:
- 1054715
- •Concept ID:
- CN378382
- •
- Finding
Deposition of cystine crystals in kidney tissue. Cystine crystals display a pathognomic hexagonal shape.
Genu valgum- MedGen UID:
- 154364
- •Concept ID:
- C0576093
- •
- Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
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.
Weight loss- MedGen UID:
- 853198
- •Concept ID:
- C1262477
- •
- Finding
Reduction of total body weight.
Failure to thrive in infancy- MedGen UID:
- 358083
- •Concept ID:
- C1867873
- •
- Finding
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.
Dysphagia- MedGen UID:
- 41440
- •Concept ID:
- C0011168
- •
- Disease or Syndrome
Difficulty in swallowing.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Exocrine pancreatic insufficiency- MedGen UID:
- 75647
- •Concept ID:
- C0267963
- •
- Disease or Syndrome
Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.
Hepatic cystine accumulation- MedGen UID:
- 1053354
- •Concept ID:
- CN378383
- •
- Finding
Accumulation of cystine in the liver.
Polydipsia- MedGen UID:
- 43214
- •Concept ID:
- C0085602
- •
- Sign or Symptom
Excessive thirst manifested by excessive fluid intake.
Photophobia- MedGen UID:
- 43220
- •Concept ID:
- C0085636
- •
- Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Cerebral atrophy- MedGen UID:
- 116012
- •Concept ID:
- C0235946
- •
- Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
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.
Progressive neurologic deterioration- MedGen UID:
- 381506
- •Concept ID:
- C1854838
- •
- Finding
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.
Bone marrow cystine accumulation- MedGen UID:
- 1054126
- •Concept ID:
- CN378384
- •
- Finding
The presence of cystine crystals in bone marrow cells as demonstrated in a fresh bone marrow aspiration sample.
Myopathy- MedGen UID:
- 10135
- •Concept ID:
- C0026848
- •
- Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Rickets- MedGen UID:
- 48470
- •Concept ID:
- C0035579
- •
- Disease or Syndrome
Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.
Frontal bossing- MedGen UID:
- 67453
- •Concept ID:
- C0221354
- •
- Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Cerebral calcification- MedGen UID:
- 124360
- •Concept ID:
- C0270685
- •
- Finding
The presence of calcium deposition within the cerebrum.
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.
Muscular atrophy- MedGen UID:
- 892680
- •Concept ID:
- C0541794
- •
- Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Hypophosphatemic rickets- MedGen UID:
- 309957
- •Concept ID:
- C1704375
- •
- Disease or Syndrome
Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D.
Metaphyseal widening- MedGen UID:
- 341364
- •Concept ID:
- C1849039
- •
- Finding
Abnormal widening of the metaphyseal regions of long bones.
Oral motor hypotonia- MedGen UID:
- 868200
- •Concept ID:
- C4022592
- •
- Finding
Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior.
Rachitic rosary- MedGen UID:
- 1642285
- •Concept ID:
- C4551565
- •
- Disease or Syndrome
A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib.
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Dehydration- MedGen UID:
- 8273
- •Concept ID:
- C0011175
- •
- Disease or Syndrome
A condition resulting from the excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis.
Diabetes mellitus- MedGen UID:
- 8350
- •Concept ID:
- C0011849
- •
- Disease or Syndrome
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Hypokalemia- MedGen UID:
- 5712
- •Concept ID:
- C0020621
- •
- Finding
An abnormally decreased potassium concentration in the blood.
Hyponatremia- MedGen UID:
- 6984
- •Concept ID:
- C0020625
- •
- Finding
An abnormally decreased sodium concentration in the blood.
Hypophosphatemia- MedGen UID:
- 39327
- •Concept ID:
- C0085682
- •
- Disease or Syndrome
An abnormally decreased phosphate concentration in the blood.
Hypomagnesemia- MedGen UID:
- 57481
- •Concept ID:
- C0151723
- •
- Disease or Syndrome
An abnormally decreased magnesium concentration in the blood.
Metabolic acidosis- MedGen UID:
- 65117
- •Concept ID:
- C0220981
- •
- Pathologic Function
Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.
Episodic metabolic acidosis- MedGen UID:
- 349179
- •Concept ID:
- C1859516
- •
- Finding
Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids.
Reduced blood urea nitrogen- MedGen UID:
- 1670959
- •Concept ID:
- C4732780
- •
- Finding
An abnormally low concentration of urea nitrogen in the blood.
Decreased circulating carnitine concentration- MedGen UID:
- 1850526
- •Concept ID:
- C5848230
- •
- Finding
Concentration of carnitine in the blood circulation below the lower limit of normal.
Hypohidrosis- MedGen UID:
- 43796
- •Concept ID:
- C0020620
- •
- Disease or Syndrome
Abnormally diminished capacity to sweat.
Hypopigmentation of the skin- MedGen UID:
- 102477
- •Concept ID:
- C0162835
- •
- Disease or Syndrome
A reduction of skin color related to a decrease in melanin production and deposition.
Hypopigmentation of hair- MedGen UID:
- 480031
- •Concept ID:
- C3278401
- •
- Finding
Delayed puberty- MedGen UID:
- 46203
- •Concept ID:
- C0034012
- •
- Pathologic Function
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
Male hypogonadism- MedGen UID:
- 57480
- •Concept ID:
- C0151721
- •
- Disease or Syndrome
Familial male hypogonadism is a highly heterogeneous category from which some disorders such as Reifenstein syndrome (312300), Kallmann syndrome (see 308700), isolated gonadotropin deficiency, and some other entities can be separated. The presence of an autosomal recessive form is suggested by the occurrence of parental consanguinity (Nowakowski and Lenz, 1961).
Primary hypothyroidism- MedGen UID:
- 1389835
- •Concept ID:
- C4316995
- •
- Disease or Syndrome
A type of hypothyroidism that results from a defect in the thyroid gland.
Retinal disorder- MedGen UID:
- 11209
- •Concept ID:
- C0035309
- •
- Disease or Syndrome
Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.
Recurrent corneal erosions- MedGen UID:
- 56353
- •Concept ID:
- C0155119
- •
- Disease or Syndrome
The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations.
Reduced visual acuity- MedGen UID:
- 65889
- •Concept ID:
- C0234632
- •
- Finding
Diminished clarity of vision.
Blindness- MedGen UID:
- 99138
- •Concept ID:
- C0456909
- •
- Disease or Syndrome
Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.
Corneal crystals- MedGen UID:
- 853135
- •Concept ID:
- C1096610
- •
- Pathologic Function
Retinal pigment epithelial mottling- MedGen UID:
- 347513
- •Concept ID:
- C1857644
- •
- Finding
Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium.
Visual impairment- MedGen UID:
- 777085
- •Concept ID:
- C3665347
- •
- Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Pigmentary retinopathy- MedGen UID:
- 1643295
- •Concept ID:
- C4551715
- •
- Disease or Syndrome
An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.
Elevated intracellular cystine- MedGen UID:
- 871150
- •Concept ID:
- C4025623
- •
- Finding
An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells.
Elevated leukocyte cystine- MedGen UID:
- 1709721
- •Concept ID:
- C5397656
- •
- Finding
An increased concentration of cystine within white blood cells.
- Abnormal cellular phenotype
- Abnormality of blood and blood-forming tissues
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- 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
- Growth abnormality