Details of Disease

General Information of Disease (ID: DISKJI1E)

Disease Name Mesomelic dysplasia
Synonyms Mesomelic dwarf; Mesomelic Dysplasia; Mesomelic dysplasia; mesomelic dysplasia; mesomelic dysplasias
Definition A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae).
Disease Hierarchy
DIS9SPWW: Osteochondrodysplasia
DISKJI1E: Mesomelic dysplasia
Disease Identifiers
MONDO ID
MONDO_0023599
UMLS CUI
C0410536
MedGen ID
593147
SNOMED CT ID
205473008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AFF3 OTR0705Z Strong Biomarker [1]
SHOX OTE0YZJO Strong Biomarker [2]
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References

1 De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation.J Hum Genet. 2019 Oct;64(10):1041-1044. doi: 10.1038/s10038-019-0650-0. Epub 2019 Aug 6.
2 SHOX intragenic microsatellite analysis in patients with short stature.J Pediatr Endocrinol Metab. 2002 Feb;15(2):139-48. doi: 10.1515/jpem.2002.15.2.139.