Details of Disease

General Information of Disease (ID: DISCHQ9R)

Disease Name Kniest dysplasia
Synonyms Kniest dysplasia
Definition Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).
Disease Hierarchy
DISDTAJK: Spondylometaphyseal dysplasia
DIS8WIDY: Type 2 collagenopathy
DIS1JG9A: Spondyloepiphyseal dysplasia
DISCHQ9R: Kniest dysplasia
Disease Identifiers
MONDO ID
MONDO_0007987
MESH ID
C537207
UMLS CUI
C0265279
OMIM ID
156550
MedGen ID
75559
Orphanet ID
485
SNOMED CT ID
53974002

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
COL2A1 OT5E59C8 Definitive Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.