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- Beedd4e082146bb6c62d4c4097fae5cc7 hasDbXref "Orphanet:1040" @default.
- Beedd4e082146bb6c62d4c4097fae5cc7 type Axiom @default.
- Beedd4e082146bb6c62d4c4097fae5cc7 annotatedProperty IAO_0000115 @default.
- Beedd4e082146bb6c62d4c4097fae5cc7 annotatedSource MONDO_0015177 @default.
- Beedd4e082146bb6c62d4c4097fae5cc7 annotatedTarget "Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed." @default.