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Items: 1 to 20 of 22

1.

Hepatic failure

severe inability of the liver to function normally, as evidenced by severe jaundice and abnormal levels of ammonia, bilirubin, alkaline phosphatase, glutamic oxaloacetic transaminase, lactic dehydrogenase, and reversal of the albumin/globulin ratio. [from CRISP]

MedGen UID:
88444
Concept ID:
C0085605
Disease or Syndrome
2.

Rickets

Rickets causes soft, weak bones in children. It usually occurs when they do not get enough vitamin D, which helps growing bones absorb the minerals calcium and phosphorous. It can also happen when calcium or phosphorus levels are too low. Your child might not get enough vitamin D if he or she. -Has dark skin. -Spends too little time outside. -Has on sunscreen all the time when out of doors. -Doesn't eat foods containing vitamin D because of lactose intolerance or a strict vegetarian diet. -Is breastfed without receiving vitamin D supplements. -Can't make or use vitamin D because of a medical disorder such as celiac disease. In addition to dietary rickets, children can get an inherited form of the disease. Symptoms include bone pain or tenderness, impaired growth, and deformities of the bones and teeth. Your child's doctor uses lab and imaging tests to make the diagnosis. Treatment is replacing the calcium, phosphorus, or vitamin D that are lacking in the diet. Rickets is rare in the United States.  [from MedlinePlus]

MedGen UID:
48470
Concept ID:
C0035579
Disease or Syndrome
3.

Ataxia

A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts. [from HPO]

MedGen UID:
13945
Concept ID:
C0004134
Sign or Symptom
4.

Neurologic

MedGen UID:
880863
Concept ID:
CN236425
Finding
5.

Tyrosinemia type 2

Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit. [from ORDO]

MedGen UID:
798364
Concept ID:
CN202833
Disease or Syndrome
6.

Hypertyrosinemia

An increased concentration of tyrosine in the blood. [from HPO]

MedGen UID:
742296
Concept ID:
C1879362
Disease or Syndrome
7.

Hypertyrosinemia

An increased concentration of tyrosine in the blood. [from HPO]

MedGen UID:
505490
Concept ID:
CN002918
Finding
8.

Rickets

MedGen UID:
505342
Concept ID:
CN002493
Finding
9.

Hepatic failure

MedGen UID:
504829
Concept ID:
CN001280
Finding
10.

Ataxia

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). [from HPO]

MedGen UID:
504767
Concept ID:
CN001146
Finding
11.

Photophobia

Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. [from HPO]

MedGen UID:
504524
Concept ID:
CN000575
Finding
12.

Intellectual disability

MedGen UID:
334384
Concept ID:
C1843367
Finding
13.

Mild

Mild; asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated. [from SNOMEDCT_US]

MedGen UID:
268697
Concept ID:
C1513302
Finding
14.

4-Hydroxyphenylpyruvate dioxygenase deficiency

Tyrosinemia type III is an autosomal recessive disorder caused by a deficiency in the activity of 4-hydroxyphenylpyruvate dioxygenase (HPD) and is characterized by elevated levels of blood tyrosine and massive excretion of its derivatives into urine. Patients with this disorder have mild mental retardation and/or convulsions, with the absence of liver damage (summary by Tomoeda et al., 2000). [from OMIM]

MedGen UID:
78694
Concept ID:
C0268623
Disease or Syndrome
15.

Tyrosinemia type I

Untreated tyrosinemia type I usually presents either in young infants with severe liver involvement or later in the first year with liver dysfunction and renal tubular dysfunction associated with growth failure and rickets. Untreated children may have repeated, often unrecognized, neurologic crises lasting one to seven days that can include change in mental status, abdominal pain, peripheral neuropathy, and/or respiratory failure requiring mechanical ventilation. Death in the untreated child usually occurs before age ten years, typically from liver failure, neurologic crisis, or hepatocellular carcinoma. Combined treatment with nitisinone and a low-tyrosine diet has resulted in a greater than 90% survival rate, normal growth, improved liver function, prevention of cirrhosis, correction of renal tubular acidosis, and improvement in secondary rickets. [from GeneReviews]

MedGen UID:
75688
Concept ID:
C0268490
Disease or Syndrome
16.

Tyrosinemia type 2

Tyrosinemia type II is an autosomal recessive disorder characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. The disorder is caused by deficiency of hepatic tyrosine aminotransferase (Natt et al., 1992). [from OMIM]

MedGen UID:
75687
Concept ID:
C0268487
Disease or Syndrome
17.

Mild mental retardation (I.Q. 50-70)

Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69. [from HPO]

MedGen UID:
10044
Concept ID:
C0026106
Finding; Mental or Behavioral Dysfunction
18.

Intellectual functioning disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. [from HPO]

MedGen UID:
7544
Concept ID:
C0025362
Mental or Behavioral Dysfunction
19.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
20.

Metabolic disease

Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat. A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. . You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example. .  [from MedlinePlus]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
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