From HPO
Split foot- MedGen UID:
- 140919
- •Concept ID:
- C0432028
- •
- Congenital Abnormality
A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.
Split hand- MedGen UID:
- 397570
- •Concept ID:
- C2699510
- •
- Congenital Abnormality
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.
Hand monodactyly- MedGen UID:
- 870952
- •Concept ID:
- C4025415
- •
- Congenital Abnormality
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.
Retinopathy- MedGen UID:
- 11209
- •Concept ID:
- C0035309
- •
- Disease or Syndrome
Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.
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.
Cataract- MedGen UID:
- 39462
- •Concept ID:
- C0086543
- •
- Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Congenital nystagmus- MedGen UID:
- 195995
- •Concept ID:
- C0700501
- •
- Congenital Abnormality
Nystagmus dating from or present at birth.
- Abnormality of limbs
- Abnormality of the eye