From HPO
Heparan sulfate excretion in urine- MedGen UID:
- 340721
- •Concept ID:
- C1854827
- •
- Finding
An increased concentration of heparan sulfates in the urine.
Cardiomegaly- MedGen UID:
- 5459
- •Concept ID:
- C0018800
- •
- Finding
Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.
Asymmetric septal hypertrophy- MedGen UID:
- 104705
- •Concept ID:
- C0205700
- •
- Disease or Syndrome
Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray.
Diarrhea- MedGen UID:
- 8360
- •Concept ID:
- C0011991
- •
- Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Hearing impairment- MedGen UID:
- 235586
- •Concept ID:
- C1384666
- •
- Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Aggressive behavior- MedGen UID:
- 1375
- •Concept ID:
- C0001807
- •
- Individual Behavior
Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Sleep abnormality- MedGen UID:
- 52372
- •Concept ID:
- C0037317
- •
- Sign or Symptom
An abnormal pattern in the quality, quantity, or characteristics of sleep.
Hyperactivity- MedGen UID:
- 98406
- •Concept ID:
- C0424295
- •
- Finding
Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.
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.
Hurler syndrome- MedGen UID:
- 39698
- •Concept ID:
- C0086795
- •
- Disease or Syndrome
Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap. Affected individuals are best described as having either a phenotype consistent with either severe (Hurler syndrome) or attenuated MPS I, a distinction that influences therapeutic options. Severe MPS I. Infants appear normal at birth. Typical early manifestations are nonspecific (e.g., umbilical or inguinal hernia, frequent upper respiratory tract infections before age 1 year). Coarsening of the facial features may not become apparent until after age one year. Gibbus deformity of the lower spine is common and often noted within the first year. Progressive skeletal dysplasia (dysostosis multiplex) involving all bones is universal, as is progressive arthropathy involving most joints. By age three years, linear growth decreases. Intellectual disability is progressive and profound but may not be readily apparent in the first year of life. Progressive cardiorespiratory involvement, hearing loss, and corneal clouding are common. Without treatment, death (typically from cardiorespiratory failure) usually occurs within the first ten years of life. Attenuated MPS I. Clinical onset is usually between ages three and ten years. The severity and rate of disease progression range from serious life-threatening complications leading to death in the second to third decade, to a normal life span complicated by significant disability from progressive joint manifestations and cardiorespiratory disease. While some individuals have no neurologic involvement and psychomotor development may be normal in early childhood, learning disabilities and psychiatric manifestations can be present later in life. Hearing loss, cardiac valvular disease, respiratory involvement, and corneal clouding are common.
Joint stiffness- MedGen UID:
- 56403
- •Concept ID:
- C0162298
- •
- Sign or Symptom
Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.
Thickened ribs- MedGen UID:
- 98096
- •Concept ID:
- C0426820
- •
- Finding
Increased thickness (diameter) of ribs.
Dense calvaria- MedGen UID:
- 343213
- •Concept ID:
- C1854834
- •
- Finding
An abnormal increase of density of the bones making up the calvaria.
Ovoid thoracolumbar vertebrae- MedGen UID:
- 401469
- •Concept ID:
- C1868556
- •
- Finding
Recurrent upper respiratory tract infections- MedGen UID:
- 154380
- •Concept ID:
- C0581381
- •
- Disease or Syndrome
An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Reduced tissue alpha-N-acetylglucosaminidase activity- MedGen UID:
- 1053762
- •Concept ID:
- CN376956
- •
- Finding
Concentration or activity of alpha-N-acetylglucosaminidase (EC 3.2.1.50) below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. It is also known as alpha-acetylglucosaminidase, N-acetyl-alpha-D-glucosaminidase, N-acetyl-alpha-glucosaminidase, and alpha-D-2-acetamido-2-deoxyglucosidase.
Coarse facial features- MedGen UID:
- 335284
- •Concept ID:
- C1845847
- •
- Finding
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Hirsutism- MedGen UID:
- 42461
- •Concept ID:
- C0019572
- •
- Disease or Syndrome
Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).
Coarse hair- MedGen UID:
- 124454
- •Concept ID:
- C0277959
- •
- Finding
Hair shafts are rough in texture.
Synophrys- MedGen UID:
- 98132
- •Concept ID:
- C0431447
- •
- Congenital Abnormality
Meeting of the medial eyebrows in the midline.
- Abnormality of head or neck
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Ear malformation