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PedAM

Pediatric Disease Annotations & Medicines




Disease dwarfism
Phenotype C0265294|metaphyseal dysplasia
Sentences 2
PubMedID- 20538026 Although its most constant feature is metaphyseal dysplasia with short stature, chh is associated with extraskeletal defects such as thin hair, anemia, immunodeficiency, and increased incidence of lymphomas.
PubMedID- 24300288 It is characterized by progressive spondyloepimetaphyseal dysplasia leading to disproportionate short stature, microcephaly, and coarse facies.

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