Details of Disease

General Information of Disease (ID: DISHW9OU)

Disease Name Microcephaly, short stature, and limb abnormalities
Synonyms MISSLA; microcephaly, short stature, and limb abnormalities
Disease Hierarchy
DISYKSRF: Genetic disease
DISHW9OU: Microcephaly, short stature, and limb abnormalities
Disease Identifiers
MONDO ID
MONDO_0060533
UMLS CUI
C4539873
OMIM ID
617604
MedGen ID
1613834
Orphanet ID
572773

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
DONSON OTN5HE0W Strong Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.