From HPO
Secondary amenorrhea- MedGen UID:
- 115919
- •Concept ID:
- C0232940
- •
- Disease or Syndrome
The cessation of menstruation for six months or more in a female that is not pregnant, breastfeeding or menopausal.
Brachydactyly- MedGen UID:
- 67454
- •Concept ID:
- C0221357
- •
- Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Lower limb undergrowth- MedGen UID:
- 138016
- •Concept ID:
- C0345371
- •
- Congenital Abnormality
Leg shortening because of underdevelopment of one or more bones of the lower extremity.
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).
Spondyloepimetaphyseal dysplasia- MedGen UID:
- 609408
- •Concept ID:
- C0432211
- •
- Disease or Syndrome
An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis.
Kyphoscoliosis- MedGen UID:
- 154361
- •Concept ID:
- C0575158
- •
- Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Irregular vertebral endplates- MedGen UID:
- 331233
- •Concept ID:
- C1842153
- •
- Finding
An irregular surface of the vertebral end plates, which are normally relatively smooth.
Platyspondyly- MedGen UID:
- 335010
- •Concept ID:
- C1844704
- •
- Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Lumbar scoliosis- MedGen UID:
- 412568
- •Concept ID:
- C2748518
- •
- Finding
Bowing of the legs- MedGen UID:
- 1807399
- •Concept ID:
- C5574706
- •
- Finding
A bending or abnormal curvature affecting a long bone of the leg.
Acne- MedGen UID:
- 152379
- •Concept ID:
- C0702166
- •
- Disease or Syndrome
A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).
Hirsutism- MedGen UID:
- 42461
- •Concept ID:
- C0019572
- •
- Disease or Syndrome
Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).
Premature pubarche- MedGen UID:
- 575093
- •Concept ID:
- C0342541
- •
- Disease or Syndrome
The onset of growth of pubic hair at an earlier age than normal.
- Abnormality of limbs
- Abnormality of the endocrine system
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Growth abnormality