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Results: 4

1.

Spondylometaepiphyseal dysplasia short limb-hand type

MedGen UID:
338595
Concept ID:
C1849011
Disease or Syndrome
2.

Inhibition

MedGen UID:
5809
Concept ID:
C0021469
Molecular Function
3.

Centrally nucleated skeletal muscle fibers

An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells). [from HPO]

MedGen UID:
505572
Concept ID:
CN003333
Finding
4.

Myotubular myopathy

MedGen UID:
104495
Concept ID:
C0175709
Disease or Syndrome

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