From HPO
Aminoaciduria- MedGen UID:
- 116067
- •Concept ID:
- C0238621
- •
- Disease or Syndrome
An increased concentration of an amino acid in the urine.
Oroticaciduria- 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.
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.
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.
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.
Protein avoidance- MedGen UID:
- 326521
- •Concept ID:
- C1839531
- •
- Finding
Feeding difficulties in infancy- MedGen UID:
- 436211
- •Concept ID:
- C2674608
- •
- Finding
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
Cerebral edema- MedGen UID:
- 2337
- •Concept ID:
- C0006114
- •
- Pathologic Function
Abnormal accumulation of fluid in the brain.
Cerebellar ataxia- MedGen UID:
- 849
- •Concept ID:
- C0007758
- •
- Disease or Syndrome
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- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Coma- MedGen UID:
- 1054
- •Concept ID:
- C0009421
- •
- Disease or Syndrome
Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli.
Lethargy- MedGen UID:
- 7310
- •Concept ID:
- C0023380
- •
- Sign or Symptom
A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.
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.
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.
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.
Respiratory alkalosis- MedGen UID:
- 1411
- •Concept ID:
- C0002064
- •
- Pathologic Function
Alkalosis due to excess loss of carbon dioxide from the body.
Elevated circulating aspartate aminotransferase concentration- MedGen UID:
- 57497
- •Concept ID:
- C0151904
- •
- Finding
An abnormally high concentration in the circulation of aspartate aminotransferase (AST).
Hyperammonemia- MedGen UID:
- 113136
- •Concept ID:
- C0220994
- •
- Disease or Syndrome
An increased concentration of ammonia in the blood.
Hyperglutaminemia- MedGen UID:
- 326901
- •Concept ID:
- C1839533
- •
- Finding
An increased concentration of glutamine in the blood.
Episodic ammonia intoxication- MedGen UID:
- 333343
- •Concept ID:
- C1839541
- •
- Finding
Hypoargininemia- MedGen UID:
- 892673
- •Concept ID:
- C4025095
- •
- Finding
A decreased concentration of arginine in the blood.
Trichorrhexis nodosa- MedGen UID:
- 82668
- •Concept ID:
- C0263485
- •
- Disease or Syndrome
Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair.
Brittle hair- MedGen UID:
- 120480
- •Concept ID:
- C0263490
- •
- Disease or Syndrome
Fragile, easily breakable hair, i.e., with reduced tensile strength.
Dry hair- MedGen UID:
- 75809
- •Concept ID:
- C0277960
- •
- Finding
Hair that lacks the lustre (shine or gleam) of normal hair.
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the genitourinary system
- Abnormality of the integument
- Abnormality of the nervous system
- Growth abnormality