From HPO
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.
Abnormal epiphysis morphology of the phalanges of the hand- MedGen UID:
- 867253
- •Concept ID:
- C4021613
- •
- Anatomical Abnormality
Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).
Osteoarthritis of hip- MedGen UID:
- 14530
- •Concept ID:
- C0029410
- •
- Disease or Syndrome
Osteoarthritis of the hip joint.
Lattice retinal degeneration- MedGen UID:
- 102321
- •Concept ID:
- C0154856
- •
- Disease or Syndrome
Rhegmatogenous retinal detachment- MedGen UID:
- 489829
- •Concept ID:
- C0271055
- •
- Finding
A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium.
- Abnormality of limbs
- Abnormality of the eye
- Abnormality of the musculoskeletal system