From HPO
Short thumb- MedGen UID:
- 98469
- •Concept ID:
- C0431890
- •
- Congenital Abnormality
Hypoplasia (congenital reduction in size) of the thumb.
Short stature- MedGen UID:
- 87607
- •Concept ID:
- C0349588
- •
- Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
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.
Solitary median maxillary central incisor syndrome- MedGen UID:
- 326686
- •Concept ID:
- C1840235
- •
- Congenital Abnormality
A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors.
Alopecia- MedGen UID:
- 7982
- •Concept ID:
- C0002170
- •
- Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Increased groin pigmentation with raindrop depigmentation- MedGen UID:
- 870429
- •Concept ID:
- C4024875
- •
- Disease or Syndrome
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the integument
- Abnormality of the nervous system
- Growth abnormality