Details of Disease

General Information of Disease (ID: DIS6GPFJ)

Disease Name Hemimelia
Synonyms longitudinal meromelia
Definition
Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia. Hemimelia ranges in severity.
Disease Hierarchy
DIS5M94B: Non-syndromic limb reduction defect
DISHPNVX: Dysplasia
DIS6GPFJ: Hemimelia
Disease Identifiers
MONDO ID
MONDO_0016240
MESH ID
D004480
UMLS CUI
C0018987
MedGen ID
9194
Orphanet ID
2130

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
BHLHA9 OT80XOJB Strong Genetic Variation [1]
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References

1 Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. J Med Genet. 2012 Feb;49(2):119-25. doi: 10.1136/jmedgenet-2011-100409. Epub 2011 Dec 6.