From HPO
Intellectual disability, mild- MedGen UID:
- 10044
- •Concept ID:
- C0026106
- •
- Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
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.
Lymphocytosis- MedGen UID:
- 9834
- •Concept ID:
- C0024282
- •
- Disease or Syndrome
Increase in the number or proportion of lymphocytes in the blood.
Recurrent infections- MedGen UID:
- 65998
- •Concept ID:
- C0239998
- •
- Finding
Increased susceptibility to infections.
Chronic neutropenia- MedGen UID:
- 1671095
- •Concept ID:
- C0746882
- •
- Disease or Syndrome
Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months.
Neutropenia- MedGen UID:
- 163121
- •Concept ID:
- C0853697
- •
- Finding
An abnormally low number of neutrophils in the peripheral blood.
Chronic irritative conjunctivitis- MedGen UID:
- 870366
- •Concept ID:
- C4024810
- •
- Disease or Syndrome
A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes.
Concave nail- MedGen UID:
- 66369
- •Concept ID:
- C0221261
- •
- Finding
The natural longitudinal (posterodistal) convex arch is not present or is inverted.
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.
Curly hair- MedGen UID:
- 488919
- •Concept ID:
- C0558165
- •
- Finding
Hypoplastic fingernail- MedGen UID:
- 347304
- •Concept ID:
- C1856786
- •
- Finding
Underdevelopment of a fingernail.
Sparse pubic hair- MedGen UID:
- 388095
- •Concept ID:
- C1858573
- •
- Finding
Reduced number or density of pubic hair.
Curly eyelashes- MedGen UID:
- 382159
- •Concept ID:
- C2673670
- •
- Finding
Abnormally curly or curved eyelashes.
Short eyelashes- MedGen UID:
- 411272
- •Concept ID:
- C2748682
- •
- Finding
Decreased length of the eyelashes (subjective).
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the nervous system