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Jansen's metaphyseal chondrodysplasia

Jansen's metaphyseal chondrodysplasia

Rare genetic disorder involving dwarfism and endocrine symptoms.

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    One gene variant masking the effect of another in the other copy of the gene.

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  3. Stenosis

    Medical condition.

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    Openings from the nasal cavity to the throat.

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  5. Metaphysis

    Neck portion of a long bone between the epiphysis and the diaphysis.

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  6. Rickets

    Childhood weak bone disorder.

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  1. Parathyroid hormone 1 receptor

    Protein-coding gene in the species Homo sapiens.

    34%