Details of Disease

General Information of Disease (ID: DISOTYGN)

Disease Name ACCES syndrome
Synonyms aplasia cutis congenita with ectrodactyly skeletal syndrome
Disease Hierarchy
DISYKSRF: Genetic disease
DISOTYGN: ACCES syndrome
Disease Identifiers
MONDO ID
MONDO_0859262
UMLS CUI
C5677019
OMIM ID
619959
MedGen ID
1804308

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
UBA2 OTXJ39JG Strong Autosomal dominant [1]
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References

1 Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion: the possible role for UBA2 gene. Mol Cytogenet. 2015 Mar 26;8:21. doi: 10.1186/s13039-015-0123-x. eCollection 2015.