From HPO
Abnormality of the hand- MedGen UID:
- 6715
- •Concept ID:
- C0018564
- •
- Anatomical Abnormality
An abnormality affecting one or both hands.
Dislocated radial head- MedGen UID:
- 488814
- •Concept ID:
- C0265563
- •
- Congenital Abnormality
A dislocation of the head of the radius from its socket in the elbow joint.
Talipes equinovalgus- MedGen UID:
- 78567
- •Concept ID:
- C0265642
- •
- Congenital Abnormality
A deformity of foot and ankle in which the foot is bent down and outwards.
Fibular hypoplasia- MedGen UID:
- 316909
- •Concept ID:
- C1832119
- •
- Finding
Underdevelopment of the fibula.
Fibular aplasia- MedGen UID:
- 373034
- •Concept ID:
- C1836186
- •
- Finding
Absence of the fibula.
Short tibia- MedGen UID:
- 338005
- •Concept ID:
- C1850259
- •
- Finding
Underdevelopment (reduced size) of the tibia.
Anterior tibial bowing- MedGen UID:
- 350550
- •Concept ID:
- C1861937
- •
- Finding
An abnormal anterior bending or curvature of the tibia.
Mesomelic leg shortening- MedGen UID:
- 369436
- •Concept ID:
- C1969178
- •
- Finding
Shortening of the middle parts of the leg in relation to the upper and terminal segments.
Absent tibia- MedGen UID:
- 478374
- •Concept ID:
- C3276744
- •
- Finding
Absence of the tibia.
Limited elbow extension and supination- MedGen UID:
- 870670
- •Concept ID:
- C4025124
- •
- Finding
Short forearm- MedGen UID:
- 1632880
- •Concept ID:
- C4551978
- •
- Anatomical Abnormality
Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm.
Abnormal foot morphology- MedGen UID:
- 1762829
- •Concept ID:
- C5399834
- •
- Anatomical Abnormality
An abnormality of the skeleton of foot.
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).
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.
Hip dislocation- MedGen UID:
- 42455
- •Concept ID:
- C0019554
- •
- Injury or Poisoning
Displacement of the femur from its normal location in the hip joint.
Hypoplastic pubic bone- MedGen UID:
- 355894
- •Concept ID:
- C1865030
- •
- Finding
Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone.
Delayed closure of the anterior fontanelle- MedGen UID:
- 825928
- •Concept ID:
- C3840083
- •
- Finding
A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.
Supernumerary nipple- MedGen UID:
- 120564
- •Concept ID:
- C0266011
- •
- Congenital Abnormality
Presence of more than two nipples.
- Abnormality of limbs
- Abnormality of the breast
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Growth abnormality