From HPO
Foot dorsiflexor weakness- MedGen UID:
- 356163
- •Concept ID:
- C1866141
- •
- Finding
Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Jaundice- MedGen UID:
- 43987
- •Concept ID:
- C0022346
- •
- Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
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).
Neurodegeneration- MedGen UID:
- 17999
- •Concept ID:
- C0027746
- •
- Cell or Molecular Dysfunction
Progressive loss of neural cells and tissue.
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.
Tremor- MedGen UID:
- 21635
- •Concept ID:
- C0040822
- •
- Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
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.
Cranial nerve paralysis- MedGen UID:
- 57717
- •Concept ID:
- C0151311
- •
- Disease or Syndrome
Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness.
Gait disturbance- MedGen UID:
- 107895
- •Concept ID:
- C0575081
- •
- Finding
The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
Hyporeflexia- MedGen UID:
- 195967
- •Concept ID:
- C0700078
- •
- Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Decreased nerve conduction velocity- MedGen UID:
- 347509
- •Concept ID:
- C1857640
- •
- Finding
A reduction in the speed at which electrical signals propagate along the axon of a neuron.
Progressive peripheral neuropathy- MedGen UID:
- 347816
- •Concept ID:
- C1859178
- •
- 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.
Anemia- MedGen UID:
- 1526
- •Concept ID:
- C0002871
- •
- Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Thrombocytopenia- MedGen UID:
- 52737
- •Concept ID:
- C0040034
- •
- Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Spontaneous, recurrent epistaxis- MedGen UID:
- 816045
- •Concept ID:
- C3809715
- •
- Finding
Abnormal dense granules- MedGen UID:
- 868491
- •Concept ID:
- C4022885
- •
- Anatomical Abnormality
Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin.
Muscle weakness- MedGen UID:
- 57735
- •Concept ID:
- C0151786
- •
- Finding
Reduced strength of muscles.
Leukopenia- MedGen UID:
- 6073
- •Concept ID:
- C0023530
- •
- Disease or Syndrome
An abnormal decreased number of leukocytes in the blood.
Periodontitis- MedGen UID:
- 45815
- •Concept ID:
- C0031099
- •
- Disease or Syndrome
Inflammation of the periodontium.
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Recurrent infections- MedGen UID:
- 65998
- •Concept ID:
- C0239998
- •
- Finding
Increased susceptibility to infections.
Lymphadenopathy- MedGen UID:
- 96929
- •Concept ID:
- C0497156
- •
- Disease or Syndrome
Enlargement (swelling) of a lymph node.
Neutropenia- MedGen UID:
- 163121
- •Concept ID:
- C0853697
- •
- Finding
An abnormally low number of neutrophils in the peripheral blood.
Hemophagocytosis- MedGen UID:
- 163750
- •Concept ID:
- C0876991
- •
- Disease or Syndrome
Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues.
Recurrent bacterial skin infections- MedGen UID:
- 322727
- •Concept ID:
- C1835686
- •
- Finding
Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.
Impaired neutrophil bactericidal activity- MedGen UID:
- 868687
- •Concept ID:
- C4023090
- •
- Finding
A reduction in the ability of neutrophils to kill bacteria.
Recurrent systemic pyogenic infections- MedGen UID:
- 870741
- •Concept ID:
- C4025196
- •
- Disease or Syndrome
Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections.
Giant neutrophil granules- MedGen UID:
- 1693344
- •Concept ID:
- C5139386
- •
- Finding
The presence of abnormally large granules in neutrophils. This finding can be appreciated on a peripheral blood smear. The finding is characteristic of Chediak Higashi syndrome. The giant granules are derived from azurophil granules, whereas peroxidase-negative granules are not involved in their formation.
Gingivitis- MedGen UID:
- 4895
- •Concept ID:
- C0017574
- •
- Disease or Syndrome
Inflammation of the gingiva.
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.
Bruising susceptibility- MedGen UID:
- 140849
- •Concept ID:
- C0423798
- •
- Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
Silver-gray hair- MedGen UID:
- 322949
- •Concept ID:
- C1836576
- •
- Finding
Hypopigmented hair that appears silver-gray.
Hypopigmentation of hair- MedGen UID:
- 480031
- •Concept ID:
- C3278401
- •
- Finding
Giant melanosomes in melanocytes- MedGen UID:
- 812551
- •Concept ID:
- C3806221
- •
- Finding
The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes.
Nystagmus- MedGen UID:
- 45166
- •Concept ID:
- C0028738
- •
- Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Strabismus- MedGen UID:
- 21337
- •Concept ID:
- C0038379
- •
- Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Ocular albinism- MedGen UID:
- 38147
- •Concept ID:
- C0078917
- •
- Congenital Abnormality
An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.
Iris hypopigmentation- MedGen UID:
- 509721
- •Concept ID:
- C0154920
- •
- Finding
An abnormal reduction in the amount of pigmentation of the iris.
Reduced visual acuity- MedGen UID:
- 65889
- •Concept ID:
- C0234632
- •
- Finding
Diminished clarity of vision.
Macular hypoplasia- MedGen UID:
- 340322
- •Concept ID:
- C1849412
- •
- Finding
Underdevelopment of the macula lutea.
- Abnormality of blood and blood-forming tissues
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system