From HPO
Orotic aciduria- MedGen UID:
- 78642
- •Concept ID:
- C0268128
- •
- Finding
Orotic aciduria is a rare autosomal recessive disorder characterized by megaloblastic anemia and orotic acid crystalluria that is frequently associated with some degree of physical and mental retardation. These features respond to appropriate pyrimidine replacement therapy, and most cases appear to have a good prognosis. A minority of cases have additional features, particularly congenital malformations and immune deficiencies, which may adversely affect this prognosis (summary by Webster et al., 2001).
Bailey (2009) stated that only 2 cases of orotic aciduria without megaloblastic anemia (OAWA) had been reported.
Diaminoaciduria- MedGen UID:
- 870260
- •Concept ID:
- C4024698
- •
- Disease or Syndrome
An increased urine level of any amino acid carrying two amino groups (Asparagine, glutamine and lysine, cystine, ornithine).
Postnatal growth retardation- MedGen UID:
- 395343
- •Concept ID:
- C1859778
- •
- Finding
Slow or limited growth after birth.
Anorexia- MedGen UID:
- 315
- •Concept ID:
- C0003123
- •
- Disease or Syndrome
A lack or loss of appetite for food (as a medical condition).
Cholestasis- MedGen UID:
- 925
- •Concept ID:
- C0008370
- •
- Disease or Syndrome
Impairment of bile flow due to obstruction in bile ducts.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Vomiting- MedGen UID:
- 12124
- •Concept ID:
- C0042963
- •
- Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Micronodular cirrhosis- MedGen UID:
- 75640
- •Concept ID:
- C0267812
- •
- Disease or Syndrome
A type of cirrhosis characterized by the presence of small regenerative nodules.
Episodic vomiting- MedGen UID:
- 333228
- •Concept ID:
- C1838993
- •
- Finding
Paroxysmal, recurrent episodes of vomiting.
Portal fibrosis- MedGen UID:
- 893107
- •Concept ID:
- C3805083
- •
- Disease or Syndrome
Fibroblast proliferation and fiber expansion from the portal areas to the lobule.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Spastic paraparesis- MedGen UID:
- 52432
- •Concept ID:
- C0037771
- •
- Sign or Symptom
Mild or moderate loss of motor function accompanied by spasticity in the lower extremities. This condition is a manifestation of CENTRAL NERVOUS SYSTEM DISEASES that cause injury to the motor cortex or descending motor pathways.
Spastic gait- MedGen UID:
- 115907
- •Concept ID:
- C0231687
- •
- Finding
Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.
Hyperactivity- MedGen UID:
- 98406
- •Concept ID:
- C0424295
- •
- Finding
Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate.
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.
Cerebellar atrophy- MedGen UID:
- 196624
- •Concept ID:
- C0740279
- •
- Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Progressive spastic quadriplegia- MedGen UID:
- 347944
- •Concept ID:
- C1859736
- •
- Finding
Irritability- MedGen UID:
- 397841
- •Concept ID:
- C2700617
- •
- Mental Process
A proneness to anger, i.e., a condition of being easily bothered or annoyed.
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
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.
Frequent falls- MedGen UID:
- 163408
- •Concept ID:
- C0850703
- •
- Finding
Hyperammonemia- MedGen UID:
- 113136
- •Concept ID:
- C0220994
- •
- Disease or Syndrome
An increased concentration of ammonia in the blood.
Hyperargininemia- MedGen UID:
- 1733308
- •Concept ID:
- C5399765
- •
- Finding
An increased amount of arginine levels in the blood.
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Growth abnormality