Details of Disease | DrugMAP

General Information of Disease (ID: DISB31NE)

Disease Name	Tibial hemimelia
Synonyms	Thm; tibia, absence of; absence of tibia; bilateral absence of the tibia; tibial hemimelia; congenital longitudinal deficiency of the tibia; congenital absence of tibia; congenital aplasia and dysplasia of the tibia with intact fibula; tibial longitudinal meromelia
Definition	Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula.
Disease Hierarchy	DIS6GPFJ: Hemimelia DISB31NE: Tibial hemimelia
Disease Identifiers	MONDO ID MONDO_0010144 MESH ID C535563 UMLS CUI C0265633 OMIM ID 275220 MedGen ID 120551 Orphanet ID 93322 SNOMED CT ID 1003515004

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
GLI3	OTKDOE94	Supportive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	Tibial hemimelia associated with GLI3 truncation. J Hum Genet. 2016 May;61(5):443-6. doi: 10.1038/jhg.2015.161. Epub 2016 Jan 21.