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Items: 2

1.

Spondylometaphyseal dysplasia

The Strudwick type of spondyloepimetaphyseal dysplasia (SEMD) is characterized by disproportionate short stature, pectus carinatum, and scoliosis, as well as dappled metaphyses (summary by Tiller et al., 1995). [from OMIM]

MedGen UID:
147134
Concept ID:
C0700635
Disease or Syndrome; Finding
2.

Cone/cone-rod dystrophy

MedGen UID:
676499
Concept ID:
C0730290
Disease or Syndrome

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