Details of Disease

General Information of Disease (ID: DIS0VDXA)

Disease Name Hypochondrogenesis
Disease Hierarchy
DIS8WIDY: Type 2 collagenopathy
DISCBQB8: Achondrogenesis
DIS0VDXA: Hypochondrogenesis
Disease Identifiers
MONDO ID
MONDO_0019669
MESH ID
C563007
UMLS CUI
C0542428
MedGen ID
107448
Orphanet ID
93297
SNOMED CT ID
205483007

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 Supportive Autosomal dominant [1]
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References

1 Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. Am J Med Genet. 2000 May 15;92(2):95-100. doi: 10.1002/(sici)1096-8628(20000515)92:2<95::aid-ajmg3>3.0.co;2-9.