Details of Disease | DrugMAP

General Information of Disease (ID: DIS7WG29)

Disease Name	Short-rib thoracic dysplasia 14 with polydactyly
Synonyms	SRTD14; short-rib thoracic dysplasia 14 with polydactyly
Definition	An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23.
Disease Hierarchy	DISLC357: Jeune syndrome DIS0AZCT: Joubert syndrome with Jeune asphyxiating thoracic dystrophy DIS7WG29: Short-rib thoracic dysplasia 14 with polydactyly
Disease Identifiers	MONDO ID MONDO_0014688 UMLS CUI C4225286 OMIM ID 616546 MedGen ID 901479

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KIAA0586	OTOZRC1U	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.