Term Name: | geleophysic dysplasia |
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Synonyms: | geleophysic dwarfism, GPHYSD |
Definition: | A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis. |
Ontology: | Human Disease [DOID:0111724] ( DOID:0111724 ) |