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Short-rib thoracic dysplasia 14 with polydactyly

MONDO:0014688

An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23.

Also known as: SRTD14, short-rib thoracic dysplasia 14 with polydactyly

81 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Kidney disorder (202) Musculoskeletal system disorder (196) Hereditary disease (172) Neurodegenerative disease (155) Respiratory system disorder (127) Brain disorder (110) Central nervous system disorder (97) Movement disorder (89)

Trials to join now! 39 Not yet recruiting 13 Not yet finished but already full! 11 Completed 17 Terminated 1

Scientists gather leftover surgical tissue to unlock secrets of bone disease

Knowledge-focused Terminated

This study collected bone, cartilage, skin, and fat tissue from 50 patients undergoing surgery at Children's National Medical Center. The goal was to grow cells from these tissues in the lab and analyze them to better understand bone and connective tissue diseases. The study was …

Sponsor: National Institute of Dental and Craniofacial Research (NIDCR) • Aim: Knowledge-focused

Last updated Jun 27, 2026 07:52 UTC